Help...I need advice.

[tracyandrews]

Hi, My daughter is almost 4 months old. Her doctor was concerned about her having larger tongue. She also has a tiny ear crease and she had an umbilical hernia. Her weight was normal (7 lbs) and she was a week late. She has no other characteristics of this BWS. I have never heard of it before. It sent us into a frenzy, and I cannot get it out of my mind. We saw a geneticist and he took a look at her and said he doesn't recommend that she test for the syndrome. He said she doesn't have macroglossia, and the ear crease isn't the ear crease they look for. Her birth weight was normal, and he said she doesn't have the deep earpits. I just can't seem to get past it though. I can't seem to trust his advice and just move on. Does anyone have any advice or has anyone had a similar expeience? Thank you, Tracy

[momandjeff]

Do some research & find another doctor! Why wouldn't he want to test your daughter? With BWS, a baby doesn't have to have ALL of the characteristics. Some of the characteristics can be mild, some extreme. Go with your gut feeling & see another geneticist. My son was 12 lbs 8 ozs 24", was born on his due date, had the umbilical hernia, hypoglycemia, severe jaundice, very large tongue, no ear creases, right side larger than left, no Wilm's tumor. This was our first baby & we never heard of the syndrome either. We were sick with worry but we knew we had to do something & quickly. I hope that I can ease the worry & frustration that you are going through, but my son will turn 40 on April 26th. He's intelligent,VERY tall, handsome & has a beautiful 10 year old daughter. I hope this helps Tracy. Hugs to you & your little one.

Christine...mom&jeff

[tracyandrews in reply to momandjeff]

So happy to hear that your son is doing so well! ! That is amazing. Did he ever have health problems as a child? It seems to me the children with severe hemitrophy and the intestines on the outside of their tummy have a higher risk of.developing something. And even then the chance is low. I understand being proactive. But I also don't want to put her through a lot if things that she nay not need. Shes an amazing baby. Shes thriving, and sleeping for 12 hours a night. The geneticist that we saw is really good and he even said that if she were his baby that he wouldn't test her, (We asked). The test is don't through the Mayo clinic. He would have no reason for her not ro test if he thought she needed it. He just didn't think she needed to be put through it. As I mentioned, we see her pediatrition next week and I will talk to him about it. I really appreciate all of the advice. Thsnk you so much

[Songbird63 Administrator BWS Support]

As momandjeff says not all BWS children have all the symptoms. There is a huge range within each symptom too. The majority have a large tongue but this can be mild through to severe. However even those with mild macroglossia will normally have their tongue outside the mouth at times and have possibly had a few issues with latching on and so its normally quite obvious to parents that the childs tongue is large. Do you think she has a large tongue? Does it protrude at all from her mouth?

Many BWS children don't have ear pits or creases. Umbilical hernia is certainly a symptom with BWS but a large number of children without the condition also have this.

If your doctor was concerned enough to refer her in the first place then perhaps he can refer you to another geneticist? Has your doctor seen BWS before and is therefore reasonably confident in his views? Where did you see the geneticist...was it at a regional genetics centre or a childrens hospital where they are familiar with the condition. Sorry for so many questions but it's difficult to know how to advise you otherwise. Although I suspect that having BWS raised as a possibility the only way forward now is to have the genetics test and / or see someone who is very familiar with the condition. But if your daughter does turn out to have BWS it sounds as if she has it very mildly. The vast majority of children, especially those at the mild end of the spectrum develop very normally and have a bright future ahead of them.

[tracyandrews]

I thought I replied but I don't see it! Thanks for the response. Our geneticist is in chicago. Hes highly reccomended. He would have no reason not to test her if he thought she had it. He said she doesn't have macroglossia. Her tongue isn't that big to me at all. I will see what out ped says and if he thinks we should keep on it I will. Maybe she has a mild case...I dont know. My husband wants to trust the doctor and leave her alone.

[bonkers in reply to tracyandrews]

Hi Tracy, Your geneticist should carry out the simple blood test required to discover if your daughter has BWS. I battled my own doctor for 4.5 years for this test. I had suspicions my child had "something" underlying due to her slightly larger than normal tongue and rapid growth from birth, she had no other symptoms of BWS, I was right and my new consultant whom diagnosed my daughter with BWS was surprised it hadn't been picked by the heel prick test at birth (abnormal glucose levels etc). My daughter is screened 3 monthly for Wilms risk but other than that BWS is shoved to the back of our lives. Until this test is carried out you and your husband will always wonder. Good Luck

[scousegirl1]

I'd ask for a simple AFP(Alpho Feto Protein) blood test. Depending on the level (it should be super duper high at that age) could help with diagnosis (non bws will basically be nil). Are any organs large?