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Williams Syndrome

Williams Syndrome Poster Child
Paige Noll

Williams Syndrome Poster Child
Blair McLaren

Introduction

Williams syndrome (WS), which was first described in 1961, is a rare genetic disorder that causes medical and developmental problems. It is not a familial condition (it does not run in families) and is not a result of medical, environmental, or psychosocial factors; it is a random happening and the risk of parents having another child with WS is no greater than the original risk. WS is estimated to occur in 1 out of 20,000 births and it affects males and females equally. WS can occur in all ethnic groups. 

 

Features and Characteristics

Children with WS typically walk at a later age than would be expected. This is due to a combination of lack of muscle strength, poor coordination, and a difficulty with balance. Cognitively, children can range anywhere from having average intelligence to severe retardation. However, according to the Williams Syndrome Foundation, in a recent study, it was determined that 55% of the children examined were found to be severely mentally handicapped, 41% were moderately mentally handicapped, and only 4% of the children had average ranges of ability. Children with WS also talk later than would be expected, however, by 18 months of age, they begin speaking single words and sometimes even phrases. Many times, by age 3 years, they begin talking in sentences and by age 4 to 5 years, language becomes one of their strengths.

Children with WS also have behavioral issues, which make them quite challenging in a classroom setting. Some of the behaviors include short attention span; difficulty with emotions; sensitive hearing (which can cause over-excitement or fear); repetitiously speaking about a favorite topic; difficulty with changes in schedules or routines; rocking, nail biting, or skin picking; and difficulty building friendships.

There are common strengths that are seen in children with WS. They include excellent expressive vocabulary (vocabulary is often at a higher level than their actual level of understanding, leading to artificial expectations of mental ability); ability to retain information; reading skills (phonetic approaches are successful due to sensitive hearing); ability to learn from pictures, photographs, and videos; ability to learn from hands-on experiences; extraordinary ability to learn through music; sensitivity to others’ emotions; and the ability to initiate conversations.

There are also common problems that children with WS seem to encounter such as difficulty with fine-motor or visual-motor integration skills (i.e., tying shoes); learning to distinguish letters ("b" vs. "d"); word finding or thinking of a needed word; and some math skills.

 

Diagnosis

WS can be diagnosed by a blood test. The laboratory uses a special technique, called FISH, which looks for an elastin gene on each chromosome #7. If one of the genes is absent (the gene is found on one chromosome 7, but not the other), then WS is confirmed. The elastin deletion is found in 95% to 98% of individuals with WS.

 

Treatment

There is no cure for Williams syndrome, however, therapies and an appropriate education can tremendously benefit the individual with WS. In almost all children with WS, individual speech therapy, occupational therapy, and physical therapy is beneficial.

In terms of classroom settings, some children will do well in a regular education class with curriculum adaptations and possibly an aide. Children with more significant learning or behavioral issues may be in a special education classroom setting for children who have learning disabilities or mental retardation. Regardless of where the child is placed, some amount of integration is recommended, particularly during structured activities.

Individuals with WS need regular monitoring for potential medical problems by a physician familiar with the syndrome. It may be necessary for individuals to receive exams from the following specialties: ophthalmology for strabismus and/or farsightedness; otolaryngology (ENT) for recurrent ear infections; dentistry for routine dental care; cardiology for cardiac monitoring; gastroenterology for reflux and chronic constipation; neurology for changes in muscle tone; and psychiatry for ADHD. Other areas of concern, that can be addressed by the individual’s primary physician, is thyroid and kidney function, growth (height, weight, and head circumference), and hypercalcemia.

 

What to Expect

Most individuals with WS master self help skills and complete academic and/or vocational schools. They are employed in many types of settings and while many individuals with WS live with their parents, some are able to live in supervised housing or on their own.

The pleasure found in talking is considerably less as the individual reaches adulthood. Hypotonia (found in most children with WS) tends to be replaced by increased muscle tension in adolescence. In adulthood, stiffness, reduced mobility of joints, weak hips and knees, and round shoulders are often found. In addition, adults with WS often acquire grey hair early (age 20-30 years). The life expectancy of an individual with WS is normal unless there is a serious heart defect.

 

Personal Stories

Our first child was born 16 weeks premature, weighing less than 1 pounds. Today, she is a healthy active 4-year-old. My husband and I were blessed with a second child, Blair, who is now 2 years old. We didn't know what it was like to have a "NORMAL" child and were concerned about her development during her infancy. I had been on total bed rest for the last 4 months of pregnancy. Blair was born 3 weeks early and weighed 5.25 pounds. The first sign of the trouble to come came at the 2 week check-up, when the pediatrician informed us that the blood tests taken at birth came back abnormal for her thyroid stimulating hormone (TSH). He also said that she had a minor peripheral pulmonary stenosis (PPS) heart murmur.

Blair was an extremely fussy and constipated baby that rarely slept. After many futile attempts with a lactation specialist, she was never able to nurse. The pediatrician prescribed reflux medication for colic symptoms. When she was 3 months old, she got her first ear infection and the pediatrician suspected that her murmur was more serious and recommended a cardiologist.

We learned from the cardiologist that Blair has a moderately large arterial septal defect (ASD) or hole, as well as minor pulmonary stenosis. She has since outgrown the pulmonary stenosis and will most likely require corrective surgery for the ASD. The ear infections continued, as did our concerns for her lagging development. She started rocking like she was going to crawl at 7 months, but waited until she was a little over one year old before she actually crawled (she didn't walk until 20 months). At her 1 year checkup, she was still not crawling or trying to use any words. The pediatrician assured us that she was just on the outer edge of where she should be, but would catch up. At that time, we requested to see an endocrinologist to follow up on her thyroid.

The endocrinologist found that Blair’s thyroid levels were within normal range, although she had an elevated thyroid stimulating hormone (TSH) level, which should be monitored. The ear infections continued and we were referred to an otolaryngologist for tubes. During this time, we switched pediatricians. The new pediatrician listened to our daughter's history and asked if we had ever been referred for genetic counseling. He suspected Williams syndrome because of her congenital heart defects and chronic ear infections, as well as some subtle facial features, including a long philtrum, wide mouth, full lips, small chin, and a "starburst" pattern in her eyes. We were shocked. At 15 months, all of our uncertainties about her development were answered. The geneticist ordered a FISH test and it came back positive - she has Williams syndrome. What did that mean? We had no idea. Our pediatrician had given us some outdated data from his medical school days, which was terrifying to us.

We were referred to a neuro-developmental specialist who told us that our daughter was definitely not retarded. He referred to her as developmentally delayed and also gave us the number of another parent in our area whose child also has WS. It was comforting to talk with another parent who had been through similar experiences. It was discovered shortly afterwards that she had elevated calcium levels and had vesicoureteral (urinary track) reflux.

We immediately started early intervention services, where she received speech and physical therapy. When Blair turned 2 years old, she was enrolled in an early childhood development program through our public school system. She currently attends school 5 days a week and receives physical therapy, speech therapy and occupational therapy. Once we gained control of her calcium, we discovered that Blair is an extraordinarily happy and loving child. She is a joy and brings smiles to everyone that she meets. A silver lining to having a child with Williams syndrome is their loving and gregarious disposition.

We have met other families and people with Williams syndrome and discovered that all of these children have many similarities. A wonderful support team is available on the Internet as is the Williams Syndrome Association and the Williams Syndrome Foundation. - Christine McLaren


While pregnant with Paige (our 3rd child), toward the end of the pregnancy we noticed I had stopped growing. Stress tests and ultrasounds all were normal, so the doctor decided to induce me just 2 days early because of her poor growth in utero.

During the birth, I had a placenta abruption, and Paige had to be delivered by the nurse! She only weighed 5 lbs. 7 oz. but was otherwise healthy. From the first night in the hospital, she was a demanding little baby! She would only sleep on my chest, and was quite fussy. The first few months continued to be hard. She would cry if I ever tried to put her down, and had "colicky" symptoms at night. She didn't sleep well at night, and would also vomit frequently. She gained weight, but very slowly.

I noticed her eyes crossed, especially her left one, and she didn't smile much, or coo or babble. She was late meeting all milestones, like rolling over, reaching for toys, mouthing, etc. When she was 6 months old, we saw a pediatric ophthalmologist who prescribed a patch to be worn on her eye during half of her waking hours.

By nine months of age, the doctor agreed there was cause for concern and so began the battery of tests including an MRI, neurological screening, metabolic screening, and kidney and thyroid tests. All came back normal. At that time, the neurologist said he did not feel that genetic testing was necessary. In the meantime, we got Paige involved in Kentucky’s Early Intervention Program, First Steps.

She made steady but slow progress, had eye muscle surgery, and by age 2, the pediatrician suggested getting genetic screening. A week before the appointment, I found Williams syndrome on the Internet, and knew we had an answer. The geneticist used the FISH test to diagnose her, which came back positive. Now every piece of the puzzle finally fit together. While she did not have the classic heart problems of WS, she had many, many of the characteristics, including the social, friendly personality. She had changed from a colicky, unhappy baby into a delightful, happy, outgoing little girl.

Subsequent check-ups at the cardiologist have shown only a slight heart murmur. Paige is now enrolled in a special needs pre-school and is continuing to make progress. She is such a delight to be around, I have almost forgotten those horrible first few months (but not quite!) - Brenda Noll


After 10 years of marriage, planning, remodeling a house to build the perfect nest for our little one, and waiting, we became pregnant with our first child. After a very wonderful, healthy pregnancy (which included a full genetic screening and many ultrasounds), we were expecting to have a very healthy baby girl. To ensure that she was healthy, we even canceled our first trip to Europe, which we’d booked before the pregnancy. Our due date came and went. About one week later at the gynecologist’s office, they detected that our daughter wasn’t moving around much in the womb, so they sent me to the hospital for monitoring. Everything was fine for 3 hours, but then as they were preparing to release me, she went into fetal distress. I called my husband and he got there in 20 minutes just as they were wheeling me into the O.R. for an emergency cesarean section. When they pulled Rachel out of my womb, she cried and it sounded normal at first until she made a strong gasping sound at the end. They immediately placed her on a table, put a tube down her throat, quickly showed me her face, and ran her up to the neonatal ICU. They finished the C-section and I went to recovery.

Over the next 4 days, we visited her in the NICU. They kept trying to pull the tube from her throat… her chest would sink until it seemed like it touched her spine because she couldn’t breath, so they’d put the tube back in. On day 3, they informed us that they would have to transfer her to a children’s hospital about 30 miles away because her problems needed their expertise. On day 4, the hospital released me and we followed the ambulance to Children’s Hospital Los Angeles (CHLA). At CHLA, my husband and I felt like we’d entered the twilight zone: seriously sick and disfigured children everywhere; we’d left our comfortable local hospital for a big, scary one downtown; a jack hammer outside my daughter’s room; and an admitting nurse who took 4 hours to fill out the admissions forms and looked like a walking corpse. It felt like the world was crashing down around us.

They told us that Rachel would have surgery the next day to identify what was preventing her from breathing. The ENT surgeon said there were several possible causes, one being very serious, but he felt that it would be something like an extra flap they could easily cut off and send her home. During the surgery, the doctor came out looking shaken… he said she had the most serious problem: her vocal cords were completely paralyzed and she needed a tracheostomy. She spent the next 3 weeks in the neonatal ICU at CHLA. I spent every day with her at the hospital; nights I would desperately search the Internet for information on her condition. We had to learn how to care for a baby on oxygen with a tracheostomy plus how to use the 5 pieces of equipment they were going to send home with her that she would be hooked up to 24 hours a day. Plus, we’d have to accommodate having nurses in our home 16 hours a day to care for her.

Every day at the hospital they would tell us a little more about her condition: heart problems, lung problems, apnea, desaturation, reflux, hypertonia, advanced bone age, dysmorphic facial features, curved fingers, puffy ear, droopy eye lid, genetic syndrome. They thought at first she had Marshall-Smith syndrome which comes with an average life span of 18 months, so we went through the devastation of thinking our baby would die at an early age. But in reading information on the Internet about Williams syndrome, I saw pictures of babies and children that looked like my Rachel. Call it mother’s intuition, but when I saw those pictures, I knew this was what she had. They wanted us to wait until she was 6 months old to see if she was developmentally delayed before they would diagnose her. I insisted they run the FISH probe immediately. Rachel was already home from CHLA when they called me to say she tested positive. It again felt like our world was crashing down. This certainly was not the experience we expected when we were pregnant. I didn’t want a "special child" with a tracheostomy who was retarded... I wanted my "fantasy child" with the 140 IQ who was going to graduate from Stanford with a Ph.D.

The next six months have been spent taking her from one specialist to another to identify all the physical problems not detected during her first month in the hospital and to treat her ongoing conditions. Her nurse and I spend 3 full days a week taking her (with all her equipment!) to see her doctors, which currently include a pediatrician, gastroenterologist, cardiologist, ophthalmologist, orthopedist, pulmonologist, ENT (ear, nose, throat) physician, geneticist (on occasion), neurologist and developmental specialist. She also has physical and occupational therapy sessions twice a week, to which I’m trying to add eating, speech, and sensory integration therapy.

Just recently, they discovered that her heart condition (which was very mild when she was released from CHLA) has become serious and she will need open heart surgery in the next few months. She’ll have at least two throat surgeries this year to keep the tracheostomy tube sized correctly and to see if the vocal cords have started moving on their own. Additionally, there is a very slight chance of two other surgeries this year, depending on what they find wrong with her lungs and her constant gastrointestinal problems. She’s 7 months old and she’s already been in 4 separate hospitals plus the occasional ER visit for severe gastrointestinal problems.

Rachel’s care needs continue to be overwhelming both physically and financially. There’s always supplies to be bought, laundry to be done (especially with a baby that throws up several times every day), hoses and tubes to be sterilized, prescriptions to be filled, appointments to attend, paperwork to be completed, bills to be paid, and nurses to be trained (assuming they show up for their shift!). Our entire existence now revolves around her because of her substantial care needs.

Financially, the cost of her care is staggering. Our current estimate for 1999 is $750,000, half of which is not covered by our private medical insurance. We’ve had to find a patchwork of government programs to pick up different pieces of her care needs (one program pays for equipment, one supplies, one nursing, etc.). Even with the private medical insurance and government programs, however, we’re still left with tens of thousands of dollars in bills we must pay ourselves each year.

During the first 5 months, I cried every day and I felt like I was going to lose my mind adjusting to the disappointment of what will never be. Now I stay pretty focused on the moment because I am so busy and because it helps to not look too far into the future. I try to make Rachel as healthy and happy as possible because I love her so much. My entire being is committed to providing her with the best possible environment and to put plans in place that will ensure she has the most comfortable and happy life possible.

By talking to parents on the Internet listserv (which has saved my sanity, since I am pretty much housebound and unable to go to therapy sessions!), I have become aware of how severe Rachel’s medical issues are compared to the average Williams syndrome child. Plus, we also have all of the developmental issues and therapies that most WS children have. Rachel’s ENT physician researched bilateral vocal cord paralysis with Williams syndrome and found two cases in the medical literature... one in Ireland and one in Japan. So our daughter is quite "non-typical" for Williams syndrome. - Kathy Rowe

 

Resources

If you are interested in meeting other parents and individuals who are involved in raising a child with Williams syndrome, the following listserv is available:

Williams Syndrome List - Send an e-mail to majordomo@lists.win.net, leave the subject field blank, and in the body of the e-mail type the words "SUBSCRIBE WILLIAMSSYNDROME" (without the quotes). You will then receive a confirmation.

For more information on Williams syndrome, visit these helpful sites:

 

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