James

I would like to share my story of having a child with BWS. First, I had a beautiful daughter, Lisa, after a seven years of infertility and the use of Clomid. The pregnancy was difficult as I went into pre-term labor at 27 weeks and delivered by C-section at 37 weeks on Aug. 3, 1988. She weighed 6 lbs 1 oz and was 19 1/4" long. She is now 18 yrs old and off to college. Deciding to have another child I again used Clomid. I had another difficult pregnancy resulting in being on bedrest for 16 weeks due to pre-term labor again and delivering twin boys via C-section at 33 weeks on Aug. 1, 1990. James weighed 5 lbs 8 oz and was 18 1/2" long. I noticed immediately that he had a very large tongue and stork bites on his forehead, both sides of his nose and above his top lip. Joseph weighed 4 lbs 7 oz and was 18" long. Joseph appeared to be perfect. I questioned my OB/GYN about the large tongue on James and the doctor said he did not have Down's Syndrome as he had no other clinical features to support it but could not explain the enlarged tongue. I then asked the pediatrician and the neonatologist about the tongue and neither of them seemed to be concerned about it or had an explanation for it. I was told that he would "probably grow into it". I told them that I never heard of a child having to grow into a body part! I was blown off.

James had some fluid in one lung and was put on oxygen for 12 hours. The fluid then cleared up on its own and there were no breathing problems. The boys stayed in the NICU for two weeks simply to learn to suck and swallow together. They were able to take bottles before they came home.

James did not have any trouble breathing or feeding but had excessive drooling all the time. He literally could not put his tongue in his mouth and keep his lips together. His abdomen was large and he had a huge appetite. At his 2 month check-up with the pediatrician I kept insisting that he give me an explanation for the enlarged tongue. The doctor finally told me that I was not going to give up the idea that something was wrong with my child so he decided to give me a referral to an endocrinologist. We had a chromosome analysis and thyroid testing done. Both were normal. We were then told that we needed to see a geneticist. We made the appt. and as soon as the doctor walked into the room and looked at James she said, "He has Beckwith-Wiedemann Syndrome". Without even doing any type of exam! I asked her to explain how she knew this with no examination and she began to point out his clinical features: enlarged tongue, large abdomen with poor abdominal muscle tone, the stork bites, one ear pit on the back of his left ear (I had noticed it but did not think anything of it). After completing an exam she then added that his liver was the upper limits of normal in size and his left kidney seemed larger than the right. She sent us for an abdominal ultrasound and CT of the abdomen which supported her initial findings. We were relieved to have a name for James' problem but were also scared to death. The doctor then brought us a book about genetic disorders and told us that we could read about BWS but there wasn't much information at that time as the majority of children diagnosed with it were diagnosed during autopsy! There was one small paragraph and that is all. She referred us to a plastic surgeon to discuss tongue reduction.

After seeing the plastic surgeon it was decided that we would go ahead with the TR but that it would have to wait until James was over 6 months old as the anesthesiologist would not put him to sleep since he was premature. I was excited to discuss this with our pediatrician and ask more questions. At our visit with the pediatrician he was quite upset that we would consider putting our child through such an "unnecessary surgery". He felt James would grow into his tongue and all would be well in a few years. The plastic surgeon told us of the potential for excessive orthodontic treatments due to the tongue pushing on the teeth constantly or have the lower jaw bone resected so not to have the Jay Leno look, but more importantly that people would perceive my son as being retarded simply because of his tongue. We went ahead with the surgery which was a huge success! However, we ended up changing pediatricians as our original one was so against the surgery and let me know it at our next visit. After an argument about it I told him that we no longer had the same philosophy of medicine and I found another pediatrician.

We went for abdominal ultrasounds and had serum AFP drawn every 3 months until James was 8 yrs old.

James did have a rapid palatal expander and tongue spurs for 4 months at age 7 as he was tongue forward during speech. He will not have to have braces or any other orthodontic treatments! His speech is perfect and so are his teeth.

We were part of a research study for BWS with Dr. DeBaun at the National Institute of Health in 1994. All five of us went through much testing and it was concluded that James is the only one of us to have BWS. We have no other family history of anyone having BWS on mine or my husband's side of the family.

At this time James is 16 yrs old, 6' 1" tall, weighs 185 lbs and wears a size 16 shoe! He does very well in school and currently plays football and hockey. He is a great kid- not to mention very handsome!

Thank you for allowing me to share my story. There really is light at the end of the tunnel. As Dr. Beckwith once told me, "If ever your child has to have a syndrome this is the one to have as they will outgrow it".

A message to every parent out there who has a child diagnosed with BWS. I can't stress enough that you must be an advocate for your child. Don't be afraid or get intimidated to speak up to your doctor or nurses about what you think is best for your child or that you think something may be wrong with your child. Keep insisting that you get tests done or a referral to another doctor or whatever you think needs to be done until someone listens to you. Had it not been for me insisting that I felt in my heart that James had a problem we would have never gotten a diagnosis of BWS. We did not get our referral until my pediatrician got sick and tired of hearing me question him about James.

I would be happy to speak to any parent about my son.

Betty

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