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Sonja Rasmussen is pictured with her brother, Mark, who has Down syndrome
Fifty-two years old, employed, living independently, an active member of his community -- it would have been hard to imagine that these words would ever describe my brother Mark when he was born with Down syndrome in 1960. The doctor’s advice at the time was typical of the era. "Institutionalize him,” he said. “It's best for your family." My parents ignored that advice, took Mark home -- and found a new doctor.
Our family is justifiably proud of all that Mark has accomplished since then, often confounding the experts of the day. Our small town in Minnesota didn’t have any educational opportunities to offer Mark, so initially he was transported to a distant town for school. Over time, our local school system was able to accommodate him. At first only segregated classes for the "mentally retarded" (a term now considered to be offensive) were offered – and kids were divided into classes based on whether they were labeled as "educable" or "trainable" (also now obsolete terms). But by the time Mark reached high school, he was included in some regular classes and participated in extracurricular activities, even serving as manager for the wrestling team – something that was practically unheard of at the time for a student with an intellectual disability. After high school, Mark moved into a brand new group home in our town. Three years later, he moved into his own apartment. He’s been living independently ever since, and working steadily at a local fast-food restaurant.
Mark has enriched my life in countless ways, including guiding my career path. When I was in high school, I was alarmed when my biology teacher said the average survival for persons with Down syndrome was 16 years (Mark was 14 at the time). My first goal was to become a genetic counselor; then I went back for training to become a pediatrician and clinical geneticist. After joining the Birth Defects Branch at CDC, one of my first projects was to examine survival among persons with Down syndrome -- our study, published in Lancet in 2002, showed that survival was 49 years in 1997 (as estimated by median age of death from US death certificates).
While I’m delighted with Mark’s many personal triumphs, I’m also aware that there are lots of challenges ahead. I know, for example, that a significant proportion of people with Down syndrome develop Alzheimer’s disease. Thankfully, Mark doesn’t show any signs of it, but we monitor him closely – a task that might be easier if there were more health care providers in rural Minnesota knowledgeable about adults with Down syndrome. And Mark’s work situation always feels a little bit shaky. Even though he’s been a loyal employee for many years, he’s often the first to have his hours cut when college students come home for the summer or when the economy struggles. It’s not easy.
Yet Mark takes all this in stride. He leads a happy and worthwhile life, proud of his work and secure in the love of his family and friends. Every day, he tries to do his best in everything he does – which, of course, inspires everyone around him to try to do the same. Mark’s quite a guy -- I’m lucky to be his sister!
Learn more about birth defects:
Disclaimer: Linking to a non-federal site does not constitute an endorsement by CDC, HHS, or any of its employees of the sponsors or the information and products presented on the site.
I feel like I should change the title to “Being Diabetic with Pregnancy”, because it seemed like I was a diabetic first and foremost who just happened to be pregnant. I knew less about my pregnancy than I did about my numbers.
I was diagnosed diabetic three months before becoming pregnant and was just learning about diabetes and how it affected my body when I found out I was pregnant. I was ecstatic! I was overjoyed! Until I went to the fertility doctor who told me, “You need to be in control of your diabetes. Your numbers need to be better or your child will have birth defects.” I was in shock. I had been trying to have a baby for three years and was hoping to enjoy the happy news for a little while.
Shortly after, I visited my OB and realized I would have to work hard to manage my diabetes during pregnancy. I gave myself insulin four times a day and checked my sugar four times a day. I tracked these numbers and called the OB’s office every day with the information. If I got busy or forgot, the office called me.
With all the stress, I finally felt I was doing right by my baby when my initial appointment for an ultrasound of the baby’s heart had to be rescheduled. They could not get me in for several weeks so I asked if I really needed the test being nearly full term. The doctor said that because I kept my diabetes under control, I was at the same risk as any other pregnant women. I was finally able to take a deep breath and know that I did the best I could for my baby.
My beautiful, healthy baby boy was delivered at 39 weeks. There were no problems. He was perfect! But what I learned is that diabetes is not a joke; it is a disease that you have to think about every minute of every day. And when you are pregnant, you have to worry what it’s now doing to you and to your baby. For me, it didn’t go away after the baby was born, so now I have to think about my diabetes every minute of every day so I can raise my baby, teach him a healthy lifestyle in hopes he does not get diabetes, and, most of all, I want to be here when he has children.
Learn more about being pregnant with diabetes here: www.cdc.gov/NCBDDD/pregnancy_gateway/diabetes.html
Diethyl-Stilbestrol(DES) is a synthetic estrogen mimic discovered in 1938, and used in pregnant women with a history of miscarriage. In the mid 60s, studies concluded that it did not, in fact, reduce the risk of miscarriage in pregnant women.
What it did do, is much, much worse. See, this shit won't just fuck you up, it will fuck up your children, and your children's children. Women who took it have an increased risk of breast cancer. Children exposed in utero have a significantly increased risk of genital birth defects, and genital cancers. Women were susceptible to vaginal tumors, cancers, and t-shaped uteruses. In males, it causes testicular cancer, infertility, cryptorchidism, hypospadia.
That's not all though, there's evidence of an increased risk of birth defects, and infertility in a third generation. You, your kids, and your kids kids.
Needless to say, it's pretty bad stuff, and nobody uses it anymore.
Jerry Allred
Jerry Allred was hit by a drunk driver in 1976, his senior year of high school. The accident paralyzed both of his legs. But Jerry does not define his life by his disability. He lives life just like anyone without a disability would live their life.
Jerry has devoted himself to fitness, and today he is a competitive road-racer, basketball player and marathoner, and coach to a teenage basketball team. Formerly a professional computer programmer, Jerry retired three years ago to spend more time with his wife and kids.
More information about living with disabilities:
•CDC’s work in Disability and Health www.cdc.gov/ncbddd/disabilityandhealth/index.html
•Lakeshore Foundation www.lakeshore.org
•United Nations International Day of Persons with Disabilities (December 3) www.un.org/disabilities/default.asp?id=111
•CDC Video: Bernard Baker - “What’s Disability to Me?” www.cdc.gov/NCBDDD/video/bernard/index.html
•CDC Feature Article: “People with Disabilities: Living Healthy” www.cdc.gov/Features/Disabilities/
•CDC Feature Article: “Twentieth Anniversary of the Americans with Disabilities Act (ADA)” www.cdc.gov/Features/ADAAnniversary/
Ian’s Story – Written by his mom Jessica
Ian was born at 32 weeks with a condition called gastroschisis, a birth defect where his intestines stick outside of his body through a hole beside the belly button. At some point in my pregnancy, the defect in the abdominal wall closed itself around the intestines outside of his body, killing all the intestines that were outside. We did not know this during the pregnancy. When he was born, we found out that he lost ½ of his colon, 2/3 of his small intestine, the valve between his small and large intestine, and his appendix. I didn't get to see my son until the next morning and was crushed. During Ian’s 9 month stay in the neonatal intensive care unit, he endured numerous feeding issues and multiple surgeries to lengthen his bowels, remove obstructions, and save him from a perforation. It was the scariest time when we were told that our baby had a 50-50 chance to pull through the next 24 hours (which happened more than one time).
After an intestinal transplant in California, we finally went home on March 3, 2008. But, it was not easy at home. Ian was in and out of the hospital with infections in his line, the tube that carried nutrients and medicine to his body, almost every 6 weeks. We almost lost Ian to one major infection in September 2008. He got a mutated form of a blood bug called Klebsiella, and he went into cardiac arrest in the pediatric intensive care unit (PICU). He then got a clot in his heart, his lungs collapsed with double pneumonia, and his kidneys went into failure. Everything looked as though we were losing him, but with a miracle, his blood clot went away overnight and he started to pee hours before having dialysis. He spent the entire month of September in the PICU, but when we did come home, everything just started to click. Eventually, doctors removed his line on December 31, 2008.
Since then, Ian has been receiving a monthly blood transfusion and injections to help with his severe anemia, which was caused by him having to be on heavy duty antibiotics for three years. Ian will need to have more intestine removed this summer to try to stop the bleeding inside. This leaves us very uncertain of the future. We do not know if Ian will need to go back on a feeding tube or have his line reinserted after this surgery. Ian is currently in Kindergarten and receives special services for speech and development because of his long term hospitalizations. He loves school, his dance club, and his friends. Despite everything he has been through, he continues to endure with a smile—he is a true Warrior!
Learn more about birth defects:
Disclaimer: Linking to a non-federal site does not constitute an endorsement by CDC, HHS, or any of its employees of the sponsors or the information and products presented on the site.
Shandler’s Story – Written by his mom, Tricia
Our twins, a boy and girl, were born 6 weeks premature in 2002. Our son, Shandler, was born with two congenital heart defects: coarctation of the aorta and bicuspid aortic valve. Coarctation of the aorta is a narrowing of part of the aorta (the major artery that supplies oxygenated blood to the entire body). Bicuspid aortic valve is an aortic valve that has two leaflets, instead of three. Shandler was fairly small, weighing only 4 pounds. At four days old, he began to have difficulty breathing. The doctors detected a heart murmur, and diminished pulses in his legs and feet. Through echocardiography (ultrasound of the heart), the congenital heart defects were found. Three days later, the heart surgeon repaired the coarctation. There is no intervention for his bicuspid aortic valve.
Our family was absolutely terrified that he wouldn’t survive major heart surgery because of how tiny he was. He did well for about two weeks after surgery, and then he developed complications (a risk with any surgical procedure). Fluid collected around his lungs, making it difficult for him to breathe. He required a ventilator to assist with breathing and chest tubes placed to drain the fluid. After six weeks of no improvement in his condition, as well as developing bacterial meningitis (which almost took his life), he was taken back into surgery. Within 24 hours, he was able to breathe on his own again. After 11 weeks in the newborn intensive care unit, Shandler was finally able to come home, to be reunited with his twin sister and live with our family. However, he was discharged with a feeding tube. This was necessary because his heart condition caused fatigue during feedings, and he was not able to take the full amount necessary by mouth.
The past 10 years have had their ups and downs for our family. Shortly after coming home, Shandler developed a condition called dysphagia, due to severe acid reflux. Dysphagia is a problem with swallowing. Shandler started refusing to eat. He later had a feeding tube surgically placed, which was how he received his nutrition for several years. Just before turning 4, he was finally eating and drinking enough to have the tube removed.
His heart condition made him extremely fragile the first few years of life. As an infant, he was hospitalized for several weeks (in critical condition) in the pediatric intensive care unit, with complications from flu. At age 2, he contracted respiratory syncytial virus (RSV) and was hospitalized for 1 week due to breathing difficulty.
Seeing Shandler today, you wouldn’t know he had such a rough start in life. Although he is small for his age, he is able to run and play with his peers, and eats everything in sight!! However, he does require yearly follow-up by a cardiologist. Through echocardiography, they look for any signs of aortic narrowing again, as well as checking the function of his bicuspid aortic valve. Complications of bicuspid aortic valve include: congestive heart failure, leakage of blood through the valve back into the heart, and narrowing of the valve’s opening. The valve will require repair or replacement if this occurs. Shandler is never allowed to participate in contact sports (football, hockey and wrestling). Despite this restriction, he is a bright, happy 5th grader, who loves to play jokes on others (especially his sisters). He enjoys building things, reading Harry Potter books, and is a whiz in math and other school subjects. He will always have his “battle scar”, although he jokes that it “makes him look tough”!! We have been truly blessed to have Shandler in our family.
Learn more about birth defects:
Disclaimer: Linking to a non-federal site does not constitute an endorsement by CDC, HHS, or any of its employees of the sponsors or the information and products presented on the site.
Hannah’s Story—Written by her mom, Leslie
My husband, Nick, and I were ecstatic when we learned that we were pregnant with our first child last February. The excitement grew when we found out that we were having identical twins, but it was short lived. The doctors diagnosed our girls as Monoamniotic-Monochorionic, or “mono mono,” meaning they shared the same sac with no dividing membrane and the same placenta. This type of pregnancy is extremely rare and very high risk, due to cord entanglement issues. We were given a poor prognosis and told that 80 percent of people in our situation would terminate the pregnancy. Nick and I plunged forward, hoping and praying for the best for our babies.
Unfortunately the stress did not end there. At five months of pregnancy one of our girls, Hannah, was diagnosed with Heterotaxy Syndrome causing several complex congenital heart defects, two of which were known as Total Anomalous Pulmonary Venous Return (TAPVR) and Pulmonary Atresia. We began seeing a pediatric cardiologist who informed us that Hannah’s condition was very precarious and would require a series of three open heart surgeries over the course of the first five years of life, the first of which would most likely be performed the day of birth. To complicate matters, Hannah would be premature and underweight, as she and Elizabeth had to be delivered via C section at 32 weeks gestation in order to increase their chance of survival due to their mono mono diagnosis. As a result, I had to spend the last two months of my pregnancy on the bed rest at the hospital for daily fetal monitoring.
Hannah and Elizabeth were born at three pounds nine ounces and three pounds fifteen ounces, respectively. They were immediately whisked away and after hours of echocardiograms, it was determined that it was in Hannah’s best interest to prolong surgery for several weeks in order to let her gain weight and increase the chance of a successful surgery. Nick and I were cautiously optimistic but painfully aware that a favorable outcome was not guaranteed.
Just three weeks later, Hannah underwent open heart surgery. After almost 12 hours of anguished waiting, we were told that the surgery had been a success but that the next 48 to 72 hours were critical. Literally as we were preparing to leave the hospital to go home that same night, Hannah’s heart stopped beating. The doctors were able to revive her and aggressively monitored her condition overnight.
Early the next morning, Hannah passed in our arms. Her surgeon assured us that we had done everything possible to save her but unfortunately her lungs could not support her heart condition. We are saddened beyond belief at our loss, but we believe Hannah is in a better place and we are comforted that she is no longer in pain or suffering. She was a fighter until the end and we will forever be grateful for the three weeks we were able to spend with our little angel.
Learn more about birth defects:
Disclaimer: Linking to a non-federal site does not constitute an endorsement by CDC, HHS, or any of its employees of the sponsors or the information and products presented on the site.
A new report suggests that a staggering 12.9 million babies are born premature every year and 7.9 million are born with serious defects. Infographic taken from Executive Healthcare Management online.
Fenix and Bryton’s Story—Written by their mom, Janalyn:
I am a proud mother of four beautiful children: two boys and two girls. Both of my sons were born with birth defects. Fenix, the older of the 2 boys, has Down syndrome.
Things were rough when we first found out. My husband and I had little to no experience with Down syndrome. We were so scared about his future. He was hospitalized multiple times as a baby because of respiratory illnesses. Now he is a very energetic 9 year old who loves sports and music. He loves life. His future is very bright.
My youngest child, Bryton, was born with anophthalmia (missing eye) on his left side and micropthalmia (small eye) on his right side. Because of this, he is completely blind. Once again, our family was in a state of disbelief. Once the shock wore off and we were able to get Bryton the medical care and help he needed to succeed, we were able to come together as a family once again. Bryton is now 4 years old—he gives the greatest hugs and is always happy. We still have some challenges. His speech is delayed and he is just learning to walk. His laugh could brighten anyone’s day. We face many challenges as a family, but we face each challenge head on, not willing to give up or be knocked down. All my children deserve the best that life can give and that is what I am here for—to ensure that their lives are grand.
Learn more about birth defects:
Disclaimer: Linking to a non-federal site does not constitute an endorsement by CDC, HHS, or any of its employees of the sponsors or the information and products presented on the site.
Anna’s Story—Written by her mom, Brooke:
When I was 5 months pregnant, my husband (shown in the photo with Anna) and I went in for our ultrasound. We were about to learn the sex of our little baby, and our hearts raced in anticipation and excitement as we patiently waited. Finally, the tech told us, “It’s a girl…” I smiled and looked at my husband for his reaction, which was also an elated smile. “…but it looks as though she may have some issues.” At first glance, she thought it may be an omphalocele, but she wasn’t sure. We were given the name of a local specialist who would be able to diagnose her defect correctly.
Two weeks later, we met with the specialist. He proceeded to tell us that the defect was not, in fact, an omphalocele, rather a gastroschisis, put us in touch with his colleague that specialized in this defect. The new specialist explained that gastroschisis is a birth defect in which an infant's intestines stick out of the body on one side of the umbilical cord. She made us feel as though this was a fairly common condition, and procedures that our baby would need were fairly simple. It was the recovery time that took the longest.
Eventually we were meeting with the specialist regularly. We also met with the doctor who would perform her surgery. He gave us a rough estimate of 6 weeks to 3 months before our baby would be well enough to be home with us.
Just as we were coming to terms with the upcoming events, I had a regular scheduled prenatal visit, and my doctor asked me if I was feeling the contractions I was having. I replied that I was, but they weren’t painful, so I wasn’t too concerned about them. I was put on bed rest at the hospital for the remainder of my pregnancy. As the long days passed, I received around the clock care from nurses, interns, on-call doctors, specialists and technicians. Finally, after about 3 weeks, our doctor informed me that our baby girl needed to come out. She scheduled my Caesarean-section exactly 30 days prior to my due date. We were so nervous and excited at the same time. We’d finally be able to meet our precious little girl, but we still felt helpless and unprepared for what would happen after her birth.
In the early afternoon of a February day, Anna was born. The doctor showed her to us briefly before handing her to the appropriate staff. We were told all of her large intestine was outside of her body, as well as a fallopian tube. Anna was bandaged carefully before being wheeled through the hallways of the hospital and over to the children’s medical center. Once there, her intestines were placed in a protective "silo." This “silo” was supposed to gently push her intestines back into her abdominal wall with the help of gravity.
After 3 days, the surgeon informed us that Anna was progressing quickly and was ready for her final surgery. They’d gently push the remaining intestines back into her stomach and stitch up her abdomen. Sitting in the waiting room while Anna was undergoing her surgery will remain to be one of the most nerve-wracking moments of my life. Luckily, it was over fairly quickly. Now came the waiting part. We had to see if she could tolerate the pressure of the intestines in her body, then work on being able to digest breast milk or formula. It was about a week before they attempted giving her my pumped breast milk through a bottle. She took to it quickly but would soon fall asleep or lose interest. Eventually she was eating a decent amount, and the doctors and nurses were pleasantly surprised with her very rapid progress. After only 17 days in the NICU, our little Anna was released and sent home with us. It was as if a great weight had been lifted off our hearts and shoulders. We no longer had to drive an hour to see her, no longer had to get updates from nurses, and we were no longer worried about when we’d finally all get to be together. Our little girl was home!
Learn more about birth defects:
Disclaimer: Linking to a non-federal site does not constitute an endorsement by CDC, HHS, or any of its employees of the sponsors or the information and products presented on the site.
Zach’s Story – Written by his mom, Amanda
I had two very active boys, two years and eight months old, when I found out I was four months pregnant, and that I was having another boy. It took me a long time to be happy about the pregnancy. I was 32 weeks along when we found out that our baby would be born with spina bifida. We were told that it was a very serious condition, that he would not walk, that he would have many other problems, and that he would have a “poor quality of life.” We left feeling unsure and afraid, yet we also felt hope and knew that somehow, everything would be okay.
Zachary was delivered at 37 weeks, as soon as his lungs were ready. Within 24 hours, he had surgery to close the hole on his back and two days later, he had surgery to have a shunt, or tube, placed in his brain to drain the excess fluid into his abdominal cavity. He did very well and was only in the hospital five days. At ten months old, he had to have his shunt replaced. He recently had surgery to stretch the muscles and tendons in his hips and ankles, allowing his legs to straighten out all the way. Zachary can’t walk, but thanks to amazing therapists, he is very strong and mobile in his own way. He likes to show-off in his wheelchair and “run” as fast as he can in it. He has had and will have many challenges and disappointments, but that is part of life for all of us. He has a strong spirit and by no means has a “poor quality of life.” He is our hero and our inspiration and we love him and his brothers so much.
Learn more about birth defects:
Disclaimer: Linking to a non-federal site does not constitute an endorsement by CDC, HHS, or any of its employees of the sponsors or the information and products presented on the site.
Pablo’s Story—Written by his mom, Belen
Pablo is a bundle of energy. He can spend hours with his Legos, and he is a proud Cub Scout. He loves video games, bike riding, and taking care of his dog. In school, his favorite classes are P.E. and math. He has a really fun personality—at the start of the new school year he said he was only going to speak Spanish in class so that the teacher would not give him homework. As you can guess, that did not work. He can be mischievous, too. Once he brought a book from the school’s library titled How to Drive your Sister Crazy. And even though he teases his big sister, he believes she knows everything and is always asking her to explain things to him.
As much as he is like any other boy, Pablo is also different. He was born with a cleft lip and palate. During my pregnancy, I had a hunch the baby in my belly was a boy and that he had a disability. Still, it was hard to hear that news. While still pregnant, I had to see many specialists and received so much information that overwhelmed and depressed me.
Many people believe that kids like Pablo only need plastic surgeries to be okay. Depending on the severity of the cleft, these kids see other specialists too. In Pablo’s case, we started with an occupational therapist and a speech therapist (who he still sees weekly). We also meet with a speech pathologist regularly as well as an ear, nose, and throat doctor, a dentist, an orthodontist, and a plastic surgeon. By the age of 5, Pablo had multiple ear tube surgeries and dental procedures that required him to be put asleep. When he was younger, it was his constant earaches that worried me the most, but now it is the orthodontic work. He is brave and strong, but at his age, he does not accept all medical procedures and treatments well. And when he feels frustrated and in pain, he often blames me. But, he is also starting to understand that all of his wonderful doctors want the best for him. That part makes me happy. He is starting to ask doctors questions, and he is starting to ask about options. I know that one day he will be a wonderful role model for other kids with cleft lip and palate. And I love watching him grow and foreseeing the man he will become.
Learn more about birth defects:
Disclaimer: Linking to a non-federal site does not constitute an endorsement by CDC, HHS, or any of its employees of the sponsors or the information and products presented on the site.
W.D. Foster
W.D. Foster is a former police officer and member of the United States National Guard. His injury occurred while exercising. He felt a sharp pain in his back and tried to shrug it off, but he collapsed as soon as he tried to stand up. W.D. was rushed to a local hospital where the doctor diagnosed him with muscle spasms. As the nurse was preparing him for discharge, she realized that he could barely walk. Nearly 10 hours after the injury, both of W.D.’s legs were paralyzed. The Mayo Clinic later confirmed that he experienced a spinal stroke.
W.D. lives just outside of Birmingham, Alabama, with his wife of more than 20 years. They have two children. His son is a senior at Auburn University, and his daughter works with the Birmingham police department.
More information about living with disabilities:
•CDC’s work in Disability and Health www.cdc.gov/ncbddd/disabilityandhealth/index.html
•Lakeshore Foundation www.lakeshore.org
•United Nations International Day of Persons with Disabilities (December 3) www.un.org/disabilities/default.asp?id=111
•CDC Video: Bernard Baker - “What’s Disability to Me?” www.cdc.gov/NCBDDD/video/bernard/index.html
•CDC Feature Article: “People with Disabilities: Living Healthy” www.cdc.gov/Features/Disabilities/
•CDC Feature Article: “Twentieth Anniversary of the Americans with Disabilities Act (ADA)” www.cdc.gov/Features/ADAAnniversary/
Teagan’s Story– Written by his mom, Brytten
In March of 2008, I gave birth to my second son, a big, beautiful, healthy baby boy, Teagan. Four days later, I found out that my big, beautiful, healthy baby boy was not so healthy. Teagan was diagnosed with a congenital heart defect (CHD)—hypoplastic left heart syndrome (HLHS)—basically, half a heart. My life as I knew it was over and my life as a Heart Mom began.
It is not the life I dreamed of while he grew in my belly for nine months, but it is my life nonetheless. Teagan's first year was the hardest year of my life to date. He had his first of three planned open heart surgeries at 7 days of age. We stayed at the hospital for eight weeks. When I finally brought him home again he was very fragile, on several medications, needed shots twice a day, was on oxygen, and had a feeding tube. We were home for a few months and by the end of July 2008, he was in desperate need of his second planned open heart surgery and some other procedures. We had a six week hospital stay this time and returned home shortly after his 5 month birthday. Our days were full of medications and tube feeds, oxygen saturation checks, lots of doctors, home health care specialists, and Early Intervention. We had to do all we could to stay healthy, so we had to miss out on a lot of family functions and stayed home a lot. Slowly but surely, I got used to my new normal and life as a Heart Mom.
Today Teagan is four years old and likes to tell people, "My heart is happy and strong!" He goes to preschool, loves to play with (healthy) friends, wrestle with his big brother, play super heroes, watch his shows, sing the current hits, swim, go on family vacations and ride his scooter. We are currently waiting for his heart to need a third planned open heart surgery, and we anticipate an eventual need of a full heart transplant. Teagan is currently on three medications a day. He is fed through his g-tube twice a day and the rest of his food he eats by mouth. We still try really hard to not get sick and we are extra aware of the germs around us. Teagan's first year of life was about keeping him alive, and now it's about letting him live! I feel so blessed to be the mother of such an incredible boy, he is truly a miracle! My life is richer than I ever could have dreamed of since the day I became a Heart Mom!
Learn more about birth defects:
Disclaimer: Linking to a non-federal site does not constitute an endorsement by CDC, HHS, or any of its employees of the sponsors or the information and products presented on the site.
William “Bill” Cawley
Bill Cawley is a 42-year-old father of four active children, all under the age of nine. He and his wife, Lizzie, were an instant match. They met and married almost two years after a diving accident left him paralyzed from the chest down.
Bill was a successful finance executive and philanthropist in Delaware before accepting a position with the Christopher and Dana Reeve Foundation three years ago. He recently relocated from Delaware to Pennsylvania with his wife and children.
More information about living with disabilities:
•CDC’s work in Disability and Health www.cdc.gov/ncbddd/disabilityandhealth/index.html
•Christopher and Dana Reeve Foundation www.christopherreeve.org
•United Nations International Day of Persons with Disabilities (December 3) www.un.org/disabilities/default.asp?id=111
•CDC Video: Bernard Baker - “What’s Disability to Me?” www.cdc.gov/NCBDDD/video/bernard/index.html
•CDC Feature Article: “People with Disabilities: Living Healthy” www.cdc.gov/Features/Disabilities/
•CDC Feature Article: “Twentieth Anniversary of the Americans with Disabilities Act (ADA)” www.cdc.gov/Features/ADAAnniversary/
Nicholas’s Story– Written by his mom, Amy
"Are you sitting down? Your baby has a serious heart defect." This phone call was supposed to be my mother, congratulating us as we brought our baby home for the first time. Instead, it marked the beginning of a whirlwind, which resulted in three hospitals, a helicopter ride and heart surgery, all in the first four days of Nicholas' life. Nicholas was born with a serious heart defect called critical coarctation of the aorta, a severe narrowing in his aorta cutting off blood flow to the lower half of his body.
The first couple of years of Nick's life were filled with caution, fear and anxiety, and they were consumed by doctors’ visits. This was compounded by the fact that there were always two other siblings in tow. The inside of my minivan was decorated with the hundreds of "good patient" stickers the three of them had collected. These stickers meant Nicholas had made it another day.
Truthfully, Nicholas is a poster child for successful surgery. He has done so well that the doctors’ visits have tapered off to a bi-annual cardiology visit. He is able to participate in sports with soccer and swimming topping his list, although hip-hop dancing is his favorite. Most days, it's easy to forget that he has a serious defect. Yet, occasionally, I catch myself wondering what his future holds. Until recently, children with severe heart defects didn't survive and there is a huge gap of information about adults with heart defects.
There are still questions: How? Why? What's next? No one really knows. I do know, that I will do everything I can to make sure he lives a long and healthy life.
Learn more about birth defects:
Disclaimer: Linking to a non-federal site does not constitute an endorsement by CDC, HHS, or any of its employees of the sponsors or the information and products presented on the site.
John Benedetto
John Benedetto is a three-time hand-cycle marathoner from Staten Island, New York. He’s 27 years old, and has lived with a spinal cord injury since 2009. He suffered the injury while body surfing on the New Jersey coast.
At the time, John was training for the New York City Marathon. His nurse suggested that John take a look at hand cycling as an alternate form of exercise. His first time on the bike was all John needed. The same year of his injury, John competed in the marathon as a hand cyclist. The bike has been a major part of his life ever since.
John finished his third New York City Marathon this year. His next goal is to complete the entire marathon, including the five daunting hills, without any assistance. When John isn’t racing, he is studying for his master’s degree in finance or spending time with his father and younger brother.
More information about living with disabilities:
•CDC’s work in Disability and Health www.cdc.gov/ncbddd/disabilityandhealth/index.html
•Christopher and Dana Reeve Foundation www.christopherreeve.org
•United Nations International Day of Persons with Disabilities (December 3) www.un.org/disabilities/default.asp?id=111
•CDC Video: Bernard Baker - “What’s Disability to Me?” www.cdc.gov/NCBDDD/video/bernard/index.html
•CDC Feature Article: “People with Disabilities: Living Healthy” www.cdc.gov/Features/Disabilities/
•CDC Feature Article: “Twentieth Anniversary of the Americans with Disabilities Act (ADA)” www.cdc.gov/Features/ADAAnniversary/
Jake’s Story—Written by his mom, Kate:
When the ultrasound technician said, “Well, I see something that we need to discuss,” my husband squeezed my hand. This is what we’d been dreading. A congenital heart defect had shown up in the last several generations of his family, taking the lives of his uncle and brother. So when the technician said “it looks like you son has a cleft lip,“ we actually laughed out loud. This was clearly not the reaction she was used to. Once the initial relief wore off, the reality began to sink in. Our son was different. His condition wasn’t life threatening, but his young life would be filled with surgery and pain, therapy and frustration, bullying and exclusion. I grieved. And then I prepared to care for him. I should have prepared to care for myself too.
When Jake was born, the doctor held him up briefly, and then he and his twin sister were whisked away to the NICU. Everyone told me once I saw him I’d instantly fall in love with that tiny wide smile. But that’s not the way it happened. Jake was a difficult newborn who would arch, scream and fight. I began to panic before every feeding. I don’t know if it was because I didn’t get to hold them for the first two days, or because I wasn’t breastfeeding, or because of a million other factors, but I wouldn’t bond with my son for another two months. Whatever the real reason I had trouble bonding with Jake, I felt it must be because he was different, and I was a horrible person for not being able to love him. He deserved so much better than me. For the first few months, I lived in a haze of guilt, shame and anger. I felt I had to hide these awful feelings and pretend like I was the strong, loving mother I was supposed to be. There was so much help available for my son. I didn’t even know to look for help for myself.
Now, I have a fantastic support network of online forums, a local cleft parents’ group, and several close friends I’ve met through this experience. But it took me a long time to find them all. I had to work through the confusion of emotions on my own. To ease my feelings of guilt, I wrote and illustrated a picture book about a young bear who wonders if his mama bear loved him before his lip was repaired, or if she loves him now. I also started a doll clinic where we make dolls with clefts and repair scars. I’ve found peace in helping other parents through the difficult first year of the cleft journey. There is a clear treatment path for children born with clefts. Their needs are obvious to see. But the needs of their parents can get pushed aside as unimportant, often by the parents themselves. As I’ve told many struggling parents “to care for your child, you need to care for yourself first.” That’s easy to say, but difficult to do. It feels selfish. Over the last two years, I’ve had to learn how.
Learn more about birth defects:
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Eli’s Story—Written by his mom, Jodie
After 4 years of marriage, we thought we had it all figured out. We had finished college, bought a new home, and we began to start our family. But due to reasons unknown, that served to be quite the challenge for us. Our first pregnancy resulted in painful miscarriage. Then we experienced fertility problems. We assumed adoption would be our fate.
With our last fertility treatment, we achieved success! Several weeks later, our doctor found two healthy beating hearts on the ultrasound screen. However, complications arose very quickly. About midway through, we were given devastating news. We were told that we were having twin boys, but that Twin A had been diagnosed with spina bifida, a neural tube defect. We left our doctor’s office in shock. But after a few days, we began to prepare a place for a special needs twin and his healthy brother. On August 3rd we delivered: Elijah “Eli” Cole 6lbs 3oz & Walker Daniel 5lb 7oz.
As planned, Eli (Twin A) was rushed to the local children’s hospital upon birth for observation by their Spina Bifida Team, and Walker remained with me. Eli’s MRI results were worse than we thought, and he had multiple problems associated with his spina bifida. We learned that if he survived, our baby would never know how to eat, how to speak, or how to breathe on his own for the rest of his life. He would never know us, his parents. We immediately felt a rush of strength that God was preparing us for what was to come. We met with an organ donation organization so Eli might be able to give the gift of life. A representative informed us that Eli’s heart valves could save possibly two other babies. We planned the removal of his ventilator and prepared our entire family to say their goodbyes.
On August 6th, we watched as his ventilator & monitor wires were removed. We were told to only expect minutes with him. But against all odds, Eli kept breathing for fourteen hours. Our doctors encouraged us to transport Eli from the local children’s hospital to the hospital where his twin brother was so that they could be together. Once Eli's hand was placed onto Walker’s little body, Eli's color began to return and a slight smirk came across his face. We saw proof of the power of twins. And for the first time, we were finally able to enjoy our Eli, celebrate his life, and mourn peacefully, as a family.
Eli passed away in our arms later that evening, after an amazing 31 hours after his ventilator was removed. Those 31 hours gave us a lifetime of peace. Throughout this journey, we witnessed unbelievable strength, compassion, and the good deeds of friends, family, and medical personnel. We cherish each day we have with Walker and remain in constant awe of God's plan for our lives.
On August 8th of this year, as we were mourning the 1-year anniversary of Eli’s death that day, we found out we are expecting again. We found out that this miracle baby is a baby girl, whom we have named “Ellie”.
We can’t wait to share Eli’s life with Walker & Ellie. I want them to know firsthand in the power of prayer, the attribute of hope, and the Gift of Life. And I want them to know that their big brother was a “lifesaver”.
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Jude’s Story—Written by his mom, Nicola
We were overcome with relief and joy when Jude arrived in 2004. A few weeks earlier, we had learned of the loss of his twin sister Holly and that Jude himself was suffering from a birth defect called an omphalocele, a condition where abdominal organs stick out of the belly button –in Jude’s case, his liver. At 10 hours old and weighing only 4.5 pounds, his tiny body was operated on to put his liver back inside his tummy. It is impossible to describe the anxiety and helplessness we felt as parents watching him being wheeled into that operating room. A couple of hours later, we heard it was a success, and his recovery thereafter was amazing. Within 24 hours, the doctors had stopped all pain-killers because he wasn’t complaining! In the NICU we watched him slowly graduate from intravenous feeding to feeding tubes to being able to drink from a bottle, and he’s never looked back. He has had additional surgeries for other minor abdominal wall problems and remains smaller than his peers. Nevertheless, his resilience to life’s challenges remains. Nothing keeps him down! For us, he is a constant reminder to us of how precious and wonderful life is.
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Ashley’s Story—Written by her mom, Kayte
Ashley was born in 2005 with a condition called gastroschisis, which caused her intestines to be outside of her body. The beginning of her life was filled with surgeries and tests, setbacks and worry. She caught an infection in her central line that nearly killed her, and she needed a special transfusion and lots of strong antibiotics to keep her alive. It seemed so unfair that such a tiny person would have to endure so much, but she was a fighter and soon was able to come home. I will never forget the way she looked at the sky with silent awe the first day she finally left the neonatal intensive care unit, or how scary it was at first to have her home without the constant beeping of machines to monitor her. She has always held a sense of wonder and curiosity about the world, and Ashley has a resiliency that other kids her age don’t possess.
Seven years and a few more surgeries later, Ashley is doing really well. She is smaller than other children, which is normal for gastroschisis survivors. She will always be at risk of intestinal kinks and blockages, which makes every stomach bug or tummy ache a worry. She is also hearing impaired from an additional birth defect called microtia. Although her life was initially filled with challenges, Ashley is blossoming into a remarkable young girl who has inspired countless other gastroschisis families with her story.
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"I'm honored to share my family's experience with hearing loss. I am the mother of twins, David and Elyssa, who were born extremely early. One of the consequences of their prematurity is that both my children have permanent hearing loss.
"Emotionally, it was like being knocked back to right after their birth at 24 weeks. It was just so unfair! They had already been through so much! And this was entirely different than anything they had been through up to this point—this was permanent, not something that they would eventually outgrow.
"And while hearing loss is actually a disability I am familiar with, since my Dad is hard of hearing, I still could literally feel the track of my life shift beneath me after hearing that news. I knew in that moment that wherever I thought my life was going before, I was now headed someplace entirely different.
"We learned about the all-important 'speech-language acquisition window' and began to research cochlear implants. At the same time, I also began to learn sign language. Our goal was to give our children access to language in as many forms as possible. As much as possible, we wanted to put off forcing them into any path that would narrow their options. Don't misunderstand, I do want my children to be able to hear and speak so that they are not isolated from the larger culture we live in. I also felt though, that it was not entirely up to me… our children should have input into the decision of how they would communicate, too.
"As our preemies continued to grow and develop, we started to notice that they were hearing more than their tests would have predicted. The hearing tests showed that David's hearing had improved—in some ranges to a moderate hearing loss level—A miracle! Elyssa however, still tested as profoundly deaf.
"The time had finally come to get Elyssa a cochlear implant. It wasn't easy to go through for any of us but we are so glad that we did! Elyssa has done fabulous with her "cochlear elephant" as she called it at first, quickly catching up to where she was with her hearing aids and then surpassing that point. She had a hearing test at one year post-activation. I cannot describe the feeling of joy and pride I felt, sitting behind my "deaf" daughter, watching her respond to sounds I could barely hear. For David, hearing loss is not his major issue anymore, although it is still there. We certainly are in a different place than I expected six years ago, but it is also most definitely a good place."
CDC would like to thank Amy and The Rhode Island Assessment Program for sharing this personal story.
Josh’s Story—Written by his mom, Krista
As a family of three, we decided to adopt a child from China. During the adoption process, we agreed to adopt a child with special health care needs, and shortly thereafter, we were matched with Josh, a little boy with cleft lip and palate. His condition was surgically repaired while he was still in China, when he was about 2 years old. He was reexamined after we brought him home, and the doctors were impressed with his repair. He shouldn’t need another procedure until he’s between 8 and 10 years old.
Josh is doing beautifully so far. At first, he needed some speech therapy to make sure he was on track, but he no longer needs these services because his skills are age appropriate. He also did wonderful at picking up his new English language. Josh is getting ready to turn 4 years old soon, and he’s becoming quite the entertainer. He loves to make people laugh and tease his older brother. We are so lucky to have him.
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Joshua’s Story—Written by his mom, Candy
Joshua Aiden, 3, was born with a cleft lip and palate. Other than the fact that he looked a little different, he was just like any other healthy baby. He had his first surgery at only 3 months old. Surgeons repaired his lip and after the surgery, it looked so good. But, after only three days, the sutures starting coming out and his lip reopened. Joshua had over 14 heartbreaking surgeries over the next three years. His palate repair healed as planned, but not his lip.
Our miracle started at the mall, while taking Joshua’s birthday pictures. A professional baseball player named Mike Adams approached us about Joshua and asked why his lip had not been repaired. When we explained our situation, he asked if he could help us. Because of this, Joshua received a special surgery using a technique that had not been used on Joshua before, and this time the lip did not come apart. This has completely changed Joshua’s life and ours. As parents and grandparents, it was hard to watch Joshua undergo so many surgeries and procedures. We only wanted Joshua to be healed and start living his life without being stared or laughed at. The first time Joshua was able to drink from a straw or even blow bubbles came just a couple of months ago. And yes, I cried tears of joy, because he was so excited that he could drink from a straw. He said “Look NaNa, I can do it. I can really do it. I am drinking from my straw.” These are just a couple of things you would not consider important until you see all of your friends and classmates doing it and knowing that you can’t. Today Joshua can drink from a straw, blow bubbles, kiss and most of all – smile. Joshua will have a few more surgeries in his future, but this was the one that has changed him forever.
Babies are born with cleft every day, here and around the world. I know how hard it is to see your child be treated differently just because of the way they look. I do not let a day pass that I don’t share our story. It is my prayer that each and every baby born around the world with any form of cleft will have a chance to smile just like Joshua has.
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Cade’s Story – Written by his mom
My son Cade was born April of 2000 with a severe case of cleft lip and palate. I didn’t learn about Cade’s cleft during my pregnancy, and after his birth, I had a lot to absorb and learn very quickly. Even though at first we were devastated and scared, my husband and I immediately embraced the challenges we knew we faced, and we were just as proud of our new son as if he had been born without a birth defect. We knew that God had given Cade to us for a reason, and we spent the first few months of Cade’s life educating ourselves about his condition and things we could do to make Cade's life as normal as possible. Although there were things we had to do differently, we tried very hard to treat Cade as though there was nothing different about him. Before his first corrective surgery, we proudly showed him off, took pictures of him, and sent him to daycare as though there was nothing different about him. We focused on educating everyone we came in contact with, rather than sheltering him at home.
When Cade began school, sometimes the other children would tease him. As much as it broke my heart when he was bullied, we explained that everyone gets made fun of and that we all have insecurities. We asked our family and close friends to share their own experiences and insecurities, and encouraged Cade to address his differences. When he was the star of the week in school, he would take in pictures from infancy and educate his classmates and teachers about his condition. Before each surgery, I would join him at school to talk about the surgery in front of his class. As a result, the other children became supportive and protective of Cade, rather than teasing him, once they knew more about what he was going through.
Today, at age twelve, Cade has had five reconstructive surgeries, five sets of ear tubes, and has many more surgeries to come. I admire Cade for his determination, confidence, and his caring and outgoing personality. He has learned to define his disability, not let it define him, and to use it to help others by telling his story.
From Cade:
God has made me this way for a reason, and I feel his reason was for me to help show other kids and adults that it’s ok to have a disability. It shouldn't hold you back. It has never stopped me from doing anything. Sure there are things I don't like about myself, but overall I am happy with the way I look. My goals are to continue to make people feel better about themselves and strive to become a professional baseball player. If I had message it would be to say “look at me, not my disability!” God made you this way for a reason too, you have a gift not a disability so hold your head high and go for your dreams.
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Genevieve's Story--Written by her mom, Tiffany
Genevieve is a twin, born early with gastroschisis. She spent 3 months in the neonatal intensive care unit (NICU) and needed several surgeries and countless procedures to keep her alive. Unexpectedly, she got a massive infection in her gut, which destroyed her remaining intestine. It poisoned her blood and she almost didn’t survive. Her birth defect led to problems for many organs inside of her body, and she’s needed several treatments during her life to be able to thrive on her own. Through this journey, we’ve learned that gastroschisis can range from a short stay in the NICU to a lifetime of complications. Each baby's story is different and there is no way of knowing that path until you are already on it.
Genevieve is now almost 3 years old and has continued to have a few complications due to her birth defect. She will continue to struggle with things like hydration and nutrition. And, we will always have to watch her for signs of problems. But, this little girl doesn’t let any of that bother her. She is strong and beautiful and inspiring to those who know her story.
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Avery’s Story—Written by his mom, Meghan
Avery was born at 6lbs 7oz with gastroschisis. We knew of his defect at 12 weeks into my pregnancy, after a blood test came back with concerning hormone levels. An ultrasound confirmed that he had exposed bowel. Avery’s birth defect affects one out of 2,229 babies in the US.
Prepped for the remaining 25 weeks that the condition was treatable, we met him with rosy expectations. After being wheeled away for surgery immediately following birth, his intestines were placed back inside his body. He spent 107 days in the hospital and under went multiple surgeries and procedures to attempt to get his affected bowel working. Avery spent 13 weeks fully awake and with a single central line providing his nutritional needs. After a surgery, he had some unanticipated complications. After more surgeries and procedures, it was discovered he was 100% brain dead. Surrounded by our loved ones, we released him to the angels after 107 beautiful days of life.
Fueled by the loneliness following the prognosis at 12 weeks, I began blogging to seek support from families affected by gastroschisis and to promote research and awareness. I helped found a support organization for children and families affected by gastroschisis.
Avery was the greatest joy and hope in my life. I advocate for his life as any other mother would, and to further that joy and love that he was and is in my life.
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Josh’s Story—Written by his mom, Megan
At 18 weeks pregnant, I was told that my baby had gastroschisis, a birth defect where the baby’s intestines stick outside of the baby’s body. At 34 weeks into my pregnancy, I was induced into labor, due to worrying ultrasounds. Joshua was born at 6lbs and 10 ½ oz. Because of his gastroschisis, he lost 2/3 of his small intestine, a small portion of his large intestine, and his appendix. Because of this, he was diagnosed with short-bowel syndrome. He had to have surgery a couple days after birth to connect parts of his intestine back together, and he has had multiple other surgeries since then.
Josh is now in 4th grade, and so far is enjoying it. I can't believe he's almost 10! Double digits—where has the time gone? He has flourished in school, but he has also had some difficulty. As we’d been warned, he has a weaker immune system. He seems to catch everything that comes his way. Through this journey, we’ve learned that every day is different. One day he’ll be doing so great, and the next he will have taken three steps back.
He’s such a strong, sensitive, little boy. I know he has a bright future ahead of him, and we look forward to every moment. I can only hope that reading his story can give other parents hope.
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Nick
As Susan welcomed the birth of her son Nick, she thought everything seemed normal. However, as she asked, “Is my baby fine?” the initial smiles surrounding her quickly changed to whispers and concerned looks. Soon, Nick was whisked away to specialists in a large children’s hospital while Susan was left behind. Shortly afterward, she was released, leaving with a balloon that read “It’s a boy!” but she held no baby boy in her arms. Susan did not realize then that the adventure had only begun as tests soon revealed that her baby had a congenital heart defect.
After Nick had three difficult open heart surgeries, his doctors decided that he could survive only with a heart transplant. Just before his second birthday, Nick received his new heart. Although Nick is 23 years old now and doing well, he and his parents still worry about transplant rejection and the future. “I think about the pain and frustration we have been through, and my hope for other families is that we can find out what causes congenital heart defects so that we can prevent them,” added Susan.
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Ryan’s Story – Written by his mom Laura:
The night after my son, Ryan, was born, I felt like something wasn’t right. He did not cry. He had a hard time feeding. He felt cold. When the pediatrician found nothing wrong and cleared him to go home, I had an uneasy feeling. But it wasn’t until that first night home, when his legs were bluish in color and his breathing was labored, that we knew for sure that something was wrong. We called the paramedics, and when we got to the hospital, the doctors recognized that something was wrong with his heart. After some more testing, the doctor came in and very bluntly told us that our beautiful son had a very grave heart condition called hypoplastic left heart syndrome. Without immediate intervention, he would die. Suddenly, the room was swirling, and I crumpled to the floor. All I could think about was how our older son might not see his little brother again.
Since that day, Ryan has had a number of surgeries, his first one at only five days old. He slowly got better, but at two years old, he took a turn for the worse, and we decided to put him on the heart transplant list. While Ryan was in the intensive care unit (ICU) getting more and more sick, we finally heard the doctor say those magic words, “We have a potential heart.” On the day of his transplant, my husband happened to get in the elevator with the man transporting the heart. All he could muster to say was “Take care of my son’s heart.”
Ryan is now eight years old and is doing awesome. He is such a blessing to our family—we cherish every day with him. It hasn’t been easy. There have been many challenges, like getting insurance to help with all the bills and getting Ryan the support he needs to reach his milestones. But I would not change a thing. I want the world for him. I want him to be able to do whatever he wants. And, he does. He wakes up every day, the happiest kid with no fear.
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William
I was born with a heart defect, tetralogy of Fallot, in 1954. My parents were told that I would not survive even a year. At that time, the option of surgery was new and very few doctors were skilled in this type of procedure. In 1966, at the age of eleven, I had corrective surgery. The medical care had advanced and I was very lucky. I was doing well until May of 1969, when we discovered that my heart rate was dangerously low: less than 30 beats per minute. So, on May 21, 1969, I got my first pacemaker. Again, because of new developments in medical care, I was lucky. Advances in pacemaker technology have continually improved my quality of life. Today, I am 58 years old and have an implanted cardiac defibrillator.
Due to the advances in medical care, today, children can get the care they need within the first few weeks of life. If I was born today with the same heart defect, the surgery would be done at 4-8 weeks of age. As the medical community learns and moves forward, people with heart defects have and will benefit as a result. Now, we live longer, healthier lives. However, our surgery is not a total cure, and, as we age, we still suffer effects of these conditions. Continued medical care and ongoing research is vitally important to each of our lives.
Thank you for supporting research in congenital heart defects.
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“When I was 17 years old, I lost all of my hearing in one ear. I learned that I had a genetic syndrome that caused tumors to grow on my hearing nerves. And I learned that someday I would become completely deaf in the other ear. I was devastated and frightened. I grew up with full hearing and didn't know anyone who was deaf. I couldn't imagine the world without sound. A few years later, a friend told me about a remarkable new technology called an alpha pager, a pager that could receive a message sent via a live operator. I was excited to think that someday this technology could help me.
“Soon my world got quieter, but I didn't really notice because it happened so slowly. After much urging from my frustrated family, friends, and coworkers, I got my first hearing aid. I can remember turning my hearing aid on for the first time and immediately hearing a soft, low-pitched noise. My eyes scanned the room looking for the source. My audiologist smiled and said, ‘That's the air conditioner.’ I went for my usual run that evening and was surprised to hear the gravel crunch beneath my feet and the croak of a bullfrog. I had forgotten that frogs make noise!
“But the sounds around me continued to soften. I began using captioning on TV only a year after a federal law was enacted requiring most new television sets to include a closed captioning feature. And I became unable to use the telephone only a few years after emailing became the norm.
“I'm completely deaf now. In addition to closed captions and email, I rely on technologies such as text messaging, IM (instant messaging), and CART (communication access realtime translation). Recent changes in technology, as well as other recent positive changes such as the passage of the Americans with Disabilities Act, have provided opportunities for people with disabilities that were not available 20 years ago. I sometimes think back to the excitement I felt when I learned that I might someday use an alpha pager, and I smile.”
CDC would like to thank Krista for sharing her personal story.
Daniel and Jacob’s story—Written by their mom, Kristin:
I have a vivid memory of hearing the doctor say to me “Your son will have a cleft lip and palate.” Time stopped temporarily, and I felt suspended on the exam table. Cleft lip and palate? Me? My baby? As we anxiously awaited the birth of this special son, I played over the scenarios in my mind. Would he eat like other babies, would he look too very different? The wait was agony. When the baby came he looked up at me with his steel blue eyes and cherubic cheeks. Then, he nuzzled me softly, and I knew we would be alright. I would buoy him up and help him thrive, and he would do the same for me.
Three years later, it was like a bad movie stuck in replay, “Your son will be born with a cleft lip and palate.” Wait a minute, I thought, I have already done this. I already paid my medical bills; we completed the surgeries. We have to do this again? Six months later my third son was born like his older brother, with a cleft lip and palate. This baby would suffer more with a more complicated condition. But it didn’t matter, I knew how to do it now, and any difficulties we experienced were swallowed up in our family’s love. Both children are resilient and active. My boys are strong and healthy. We have endured much and are grateful and stronger for it.
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“My name is Mike Higgins and I am a father, a pastor, a husband, a dean of students of a seminary, a minister, a full colonel in the United States Army, and I have Tourette syndrome.
“The first time I heard the word, ‘Tourette syndrome,’ from the doctor I had no idea what he was talking about. I had never heard of it. I didn’t know anybody who had ever heard of it before. There were a lot of days as a 12 year-old when I would lay in bed and think about what was happening to me that I could not control. It caused me to wonder, ‘Why was I born like this?’
“I think that I was not diagnosed until I was 28 years old because our family doctors didn’t know about Tourette syndrome. I had been training for three weeks in Death Valley, California, and I was really hot, really dirty, really tired, and my tics were all over the place. My battalion commander noticed and ordered me to get checked out. Finally, I met a neurologist who asked me if anybody in my family had ever had this. I told him that my grandfather did. And he said, ‘I think I know what you have.’
“I didn’t think that I was ever going to be married because it seemed like it was hard enough to just be single with Tourette syndrome. But in my family life now, it’s just who I am. I think that my wife Renee is such a spiritually mature woman and I still look up to her because she’s been my champion in all of this, helping me along, and has really been there by my side. She has never treated me as a victim and refuses to let me be a victim.
“The churches that I’ve been in have very celebratory worship styles. When I’m preaching, I don’t tic a lot; sometimes not at all. It seems like there’s a grace period I get when I’m focused on something that I’m passionate about. If we can educate the ministers, pastors, and religious leaders about Tourette’s, then they can go on to educate folks in their congregations, families of children with Tourette’s, and also folks who don’t understand Tourette’s.
“I don’t think Tourette’s takes away your dreams. I just think that it may put an extra wall or two between you and accomplishing your dreams. But you can get over the walls. As I say, ‘You may have Tourette syndrome, but it doesn’t have to have you.’”
CDC would like to thank Mike Higgins and the National Tourette Syndrome Association (TSA) for sharing this personal story.
Josh and Alissa’s Story—Written by their mom, Susan:
Our experience with cleft lip and palate has expanded over the years through the experiences of 2 of our 3 Chinese-born, adopted children: Emily, Alissa, and Joshua. Alissa, 11, was adopted at 18 months. She had a minor cleft palate that was easily repaired in the United States with the help of a cleft lip and palate team. She has experienced no issues since her repair. Joshua, 6, on the other hand, was adopted at age 2, and he has had multiple surgeries with the expectation of many more throughout his childhood. His first 2 surgeries to repair his lip and palate were completed in China. Since coming to the United States, Josh has had 2 more surgeries to repair his birth defect. He receives specialized care through a cleft lip and palate team. We travel over 2 hours each way to ensure that he has the best care possible. Because kids with clefts need a variety of special services, cleft teams help provide this specialized care in a coordinated manner. Even though we know there are multiple surgeries in his future, we are so pleased with the efforts of specialists and national associations in this country to provide exceptional care for children like Alissa and Josh so that they can have the best possible future.
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FDA medical officer Dr. Frances Kelsey’s refusal to approve the application to market thalidomide in the early 1960s attracted national attention, invoked even in this recruitment poster for the U. S. Civil Service.
For more information about FDA history visit www.fda.gov/AboutFDA/WhatWeDo/History/default.htm
“My story started when a young man met a young lady on the campus of Florida A&M University. On their first date he asked the young woman if she carried the sickle cell trait! That young man became my dad and the young lady is my mother. My dad carries the sickle cell trait and was well aware that if he married someone who also carries the trait, their kids had a 50% chance of being born with full blown sickle cell disease. He discovered that my mother is not a carrier of the sickle cell trait. The rest is history.
“I am the oldest of three children and the only one with sickle cell trait. The first time I learned I carry the sickle cell trait was as a freshman at the University of Georgia. I called home and my mother said, “Your dad has the trait, but I don’t recall the doctor saying you had the trait when you were born.” All newborns are tested for the trait in Florida, yet I had gone my whole life without knowing.
“Once I learned I had the trait I researched as much as I could and talked with the football training staff. They assured me that the trait would not affect my ability to play. There were four freshmen who tested positive for the trait along with me and we were assigned a trainer who watched us closely during practice sessions and on game day. I was not treated differently by my teammates and went about my life just as I had before. One day I learned that a football player had died from complications of sickle cell trait while participating in spring practice at another university. That’s when I realized that this is a serious issue and I should not take any chances with my health. I played at the highest level in college and it earned me a spot in the NFL.
“I knew from my research that it would not be good for me to play in high altitude, so I prayed I wouldn’t get drafted by Denver, which is at a high altitude. I ended up in Cincinnati and have played at a very high level without any adverse affects of the sickle cell trait. During the 2011 season we did travel to Denver to play the Broncos and that was the first time I can truly say I felt the effects of the trait. I could not breathe after a 10-play series and had to be given oxygen on the sideline.
“Some of the changes I’ve made in my life include eating healthy, avoiding drugs and alcohol, not smoking, and most importantly getting a lot of rest. Everyone in my family knows that I have to take my daily nap. I drink more water, sports drinks, and coconut water than ever before because it is important to stay well hydrated before and after activities.
“Having the sickle cell trait does not exclude an athlete from participating in sports, however, the training staff and coaches need to take precautions to ensure the athlete is not put in dangerous situations. In high school my coaches would get on me because I was always in the back during running drills and I often got very tired. I think back now and realize that it could have been a dangerous situation for me if over-zealous coaches or I had pushed too much during those hot days in south Florida.
“Each year I am saddened to learn of another young athlete dying from complications of the trait while participating in sports. This vicious cycle lets me know that not enough information, education, and spotlight are given to this issue. My goal is to start a foundation, with the primary focus on offering testing for athletes at the high school level and getting education for trainers and coaches on how to help the athletes be the best they can be.”
CDC would like to thank Geno Atkins for sharing his personal story.
"Leland has hemophilia. At 15 months old, Leland developed a complication called an inhibitor. This means that his body, his immune system, fights off the medicine – the infused factor VIII. That, quite honestly, pulled the rug out from underneath us, when the preferred methods of tr eatment were no longer options for us. The alternative clotting factors that we use to control bleeding are much less effective. His treatment more closely resembles that which was done a generation ago; he doesn't benefit from a lot of the advances in treatment that help his peers who don't have an inhibitor.
“The complications of long-term damage to his joints, the unrelenting pain, just general quality of life, that's been by far the biggest challenge. Another big challenge for us as a family and, for my husband in particular, is the high cost of hemophilia in general and treating an inhibitor in particular. My husband has had to make career choices based on maintaining good health insurance.
“Having a son with hemophilia and then, the added challenge of an inhibitor, is not always easy. As a parent, I would love to fix things and make everything better. The inhibitor has taken away a lot of the control that parents have in effectively managing hemophilia. We don't really have a proactive management of the bleeding; we have to wait until bleeds happen, and then deal with them from there. I've watched him sit out and miss a lot of important life experiences, including most of high school. It's not what I envisioned when he was a baby and first diagnosed.
“Fortunately, there have been many other positive life experiences that have come from having hemophilia. He's been in Washington advocating to his legislators, he's a regular guest speaker at Harvard Medical School, and he's traveled around the country for community events. How many teenagers get to do that? Hopefully these experiences help maintain some balance, for both Leland and our family as a whole."
CDC would like to thank Jane and her family for sharing this personal story.
Anifa is an 18 month old girl who lives in Nigeria. Anifa was born with spina bifida. Like most children with spina bifida, Anifa has no movement of her legs (she is paralyzed) and she has no bowel and bladder control. She works very hard just trying to crawl on her chest.
Anifa lives with her family in a village where there is no primary health center. Her mother does not own a stroller and cannot buy diapers. She has to use leaves and paper to keep her clean. She and her husband are doing everything they can for their child, but without proper care, the reality is that Anifa's future is uncertain.
Anifa had to wait until she was nine months old before she had her first back surgery to close the opening in his spine. Imagine that for nine months her spinal cord was exposed, without protection. In the United States, the first surgery for a baby born with spina bifida usually takes place within the first 24 hours of life to avoid infection, other complications, or death. But Anifa had no choice but to wait.
Anifa will likely face lifelong medical challenges associated with her spina bifida, and the financial and emotional impacts that her family will endure are overwhelming. In the United States, children born with spina bifida often live long and productive lives, even though they face many challenges. But, in many other countries, the outlook for children like Anifa is not as positive.
CDC would like to thank Anifa for sharing her personal story.
Cherise Taylor
(pictured left to right: Cherise Taylor and Dr. Paula Stewart)
Cherise Taylor has spondylitis in her spinal cord and has been paralyzed for nearly 10 years. The degenerative disease progressed slowly; first she used a cane to walk, then a walker and now a wheelchair. Cherise likes to work out at least three times a week lifting weights and participating in a ‘crank’ class.
A native of Columbus, Georgia, she and her husband relocated to Birmingham, Alabama for his position in the military. One of her favorite things to talk about is her son, a 22-year-old enlisted member of the United States Marine Corps, who recently returned home after a two-year assignment in Japan.
More information about living with disabilities:
•CDC’s work in Disability and Health www.cdc.gov/ncbddd/disabilityandhealth/index.html
•Lakeshore Foundation www.lakeshore.org
•United Nations International Day of Persons with Disabilities (December 3) www.un.org/disabilities/default.asp?id=111
•CDC Video: Bernard Baker - “What’s Disability to Me?” www.cdc.gov/NCBDDD/video/bernard/index.html
•CDC Feature Article: “People with Disabilities: Living Healthy” www.cdc.gov/Features/Disabilities/
•CDC Feature Article: “Twentieth Anniversary of the Americans with Disabilities Act (ADA)” www.cdc.gov/Features/ADAAnniversary/
Daily
My name is Daily, and I am currently 19 years old. I was born with spina bifida. I have had so many surgeries that I have lost count myself. I am currently in a wheelchair. I really don't consider myself any different than anyone else. I can do everything a walking person can do, just in my own way. When I was born, my mom was told that I wouldn't make it. And boy, did I prove them wrong. I just recently graduated high school, and I am getting ready to start college. I am so excited. My major is Early Childhood Education.
Learn more about birth defects:
Disclaimer: Linking to a non-federal site does not constitute an endorsement by CDC, HHS, or any of its employees of the sponsors or the information and products presented on the site.
“Our personal journey into this world of autism began just over eight years ago with the birth of our son, Perry. Since the beginning, he struggled immensely. The first thing we noticed was that he seemed very restless. He was always unsettled. He had a lack of recognition in his eye. He didn’t eat. He didn’t sleep. As each day passed, we recognized more ‘red flag’ characteristics of autism with repetitive behaviors, speech/sound delays and more.
“I put Perry’s name on the waiting list of every developmental pediatrician in and around Atlanta. I was told there would be a minimum 6 month wait time. Meanwhile, at 12 months of age, he was found to be eligible for the Babies Can’t Wait program (Georgia’s early intervention system) due to his developmental delays and he began a steady course of daily therapies. When Perry was 15 months old, we finally got an appointment with a Developmental Pediatrician. The doctor confirmed what I already knew: Perry has autism.
“I cried all the way home. I cried for 2 days, hoping and praying that I would be able to provide this child everything he needed. My research recommended 40 hours of ABA (applied behavior analysis) therapy, which insurance would not cover. I also found thousands of pages of different treatment approaches, all of which claimed to be effective in treating autism. I could not afford to make the wrong choice. My son’s future depended on it.
“In addition, I was 7 months pregnant with our daughter. Margeaux was born blue and immediately faced feeding and sleeping problems of her own. Margeaux’s health struggles continued, one after the other. She was also restless, but in a different way than Perry had been. When Margeaux was 12 months old, we found ourselves undergoing our second Babies Can’t Wait (Georgia’s early intervention system) evaluation. Margeaux’s therapy began and Perry’s therapy continued. Now there were two therapy schedules to juggle. Her ‘official’ Asperger’s diagnosis came at age 5. It was a long road.
“While typical children are scheduling play dates and extracurricular activities, our children’s lives are about therapies, day after day, year after year, usually 7 days a week. People on the outside cannot grasp the necessary skills that our children require help with.
“My incredibly special children have been a true gift. Of course, like any mother, I would take away their struggles if I could. I strive every day to be the kind of parent they deserve. I hope I am as much a gift to them as they are to me. They are a bright spark in so many lives.
My ultimate hope is that one day soon my children will live in a world where they will be accepted and appreciated, despite their differences. As long as I am here, I try to surround them with people who love and accept them as they navigate this world, because autism never takes a day off.”
CDC would like to thank Mary Elizabeth and her family for sharing her personal story.
"Is this hopeless?" Cynthia Frisina Gray asked upon learning about her daughter's diagnosis of cerebral palsy in 2001. Cynthia knew there was a possibility that Cathryn could have problems—she was born prematurely—but she never imagined the difficulties that lay ahead.
Though she seemed fine at first, after several months, Cynthia began to notice that sometimes Cathryn seemed very floppy, almost like a rag doll. Other times, she seemed to stiffen. "I knew she wasn't hitting the same growth and motor milestones like my older daughter," said Cynthia.
Several doctor's appointments later, she finally received a diagnosis of cerebral palsy. Cynthia immediately went to the Internet searching for anything and everything about cerebral palsy. She felt frustrated by the limited information she could find that specifically addressed the needs of parents.
Cynthia expressed her frustrations to Cathryn's orthopedic surgeon, who connected Cynthia with another parent of a child with cerebral palsy: Anna Marie Champion. Cynthia and Anna Marie set out to understand how they could help educate other families about prevention and treatment. But they weren't sure where to start. They read about spina bifida, a disabling birth defect of the spine, and about the discovery that folic acid can help reduce it. "That's what we want—our 'folic acid'—something that could help prevent cerebral palsy," Cynthia said. "We found out that we can't prevent and treat cerebral palsy without understanding the root causes of it." Tracking the number of children with cerebral palsy is the first step to understanding the characteristics and finding the root causes.
"Watching Cathryn go through the pain of two major orthopedic surgeries at such a young age is hard, but we know it's necessary to help her walk," said Cynthia. Today, Cathryn is thriving but her mother knows there will be many challenges ahead. "Like all parents, I hope and dream about my daughter going to college and having a fulfilling life," said Cynthia. "I also hope that one day we know what causes cerebral palsy so that we can help others."
CDC would like to thank Cynthia and Reaching for the Stars for sharing this personal story.
"FASD has affected my life in many ways. I was born six weeks early and weighed three pounds, eleven ounces. As a child, I never knew what it was but it was hard for me to make friends and I found myself feeling afraid of others. School was very hard for me, especially math and English. I couldn't comprehend them. I completed high school and tried college, but it didn't go well. Then I got a job.
“Working was hard. I didn't know what I wanted to do and I went from job to job. I couldn't hold on to a job. It was hard for me because I developed anxiety, depression and an eating disorder. I still deal with that today. I see a therapist often and take medication. It's still a struggle.
“I do a lot of writing to express my feelings. It helps me. I also watch people very carefully to learn how to do certain things. I tend to read everything twice to comprehend what I am reading. For my anxiety, I avoid loud and crowded places. I always surround myself with people that I feel comfortable and safe with.
“I got involved with an organization called Al-Anon because I grew up in an alcoholic family. I do share my FASD story at the Al-Anon meetings. I always tell myself if there is one young woman who is thinking about having a child and who is drinking, if I share my story and that one person hears me, it's worth it.
“I want people to know that there is hope. I keep telling myself, if I can survive, others can too. FASD comes with a lot of shame and challenges. I always tell people to stop and think before taking that drink. Pregnant women should remember that they are not drinking alone."
CDC would like to thank Frances and the National Organization on Fetal Alcohol Syndrome (NOFAS) for sharing this personal story.
The newest, and possibly best specimen in my ever growing cavalcade of freak animal specimens. This is a real two-faced cat, which I have named Prof. Harvey Whiskers. This kitten lived for four days before finally passing away. This is the 13th specimen in the collection, and my favorite!
All images were downloaded from:
archive.org/details/vlyssisaldrouan00aldra/page/n45/mode/2up
This masterpiece was actually published posthumously in 1642
On average each cigarette smoked shortens lifespan by 11 minutes
Each pack of cigarettes shortens life by 3.5 hours.
Smokers who die of tobacco-related disease lose, on average, 14 years of life. [Ref]