How long did it take to diagnose your little one??

My daughter is now 11wks and she was born with a large tongue on the right side only. The very first time i saw her at birth i noticed her tongue and pointed it out but i was told by a pediatrician it was just pressure from giving birth, and my midwife was not able to help as she's never seen anything like it. At two weeks my midwife referred me back to hospital where i gave birth to be seen in A&E by a pediatrician, Asante was seen by two baby doctors both could not tell me the cause of Asante,s tongue. I have now been referred to UCH Unverity College Hospital and they have not given me any solid answers or explain the cause behind the large tongue. I now have to wait another 6weeks for a Ultrasound scan requested by the doctor at UCH and i am waiting to hear what course of action will be taken. This has been very frustrating and hard as i am breastfeeding and its painful Asante wont take bottle i am constantly feeding i hope something is done fast or give me some answers

8 Replies

  • Children with BWS are diagnosed at a variety of ages, from prenatal to a few years of age - take a look at the poll on this subject on this site. Diagnosis is now confirmed genetically but there are often more clinical signs of BWS than just a large tongue to suggest this diagnosis. Does your child have any other signs of BWS? Has a doctor suggested they may have BWS?

    Feeding is often a problem in the early days, especially breast feeding as they often struggle to latch. However, most manage bottle feeding, sometimes different teats are needed. We managed fine with bottles once we got the flow right. Well done for breast feeding so far but don't feel bad if you need to switch, assuming your child will let you!

    Let us know how you get on at UCL. If it is macroglossia (large tongue) caused by BWS you may like to request a referral to the team at GOSH. Please feel free to contact us at any time for help. You may find the group's website helpful. Take care.

  • Thank you for your reply. No, no one that has seen Asanté has actually said what's wrong other than she has a large tongue and everything else looks normal. She was referred to UCH so she could be referred to GOSH but we are still waiting. I will try different tests on her bottles. I've noticed that when swallowing she pushes her tongue out in order to swallow. Which is worrying for when she starts on baby food.

    I will let you know what happens at UCH on 11th of next month hopefully I will know more.

  • Macroglossia can occur without BWS. However it should still be reviewed by an expereinced team - GOSH are now the UK centre for macroglossia with BWS. Our son had surgery there at 20 months with no problems at all, so try not to worry if she needs a tongue reduction. GOSH are very experienced and there is lots of support available. By the way he coped with solids although it just took longer to feed, and after the op he had no problems after everything had healed up, which doesnt take too long. Try not to worry too much...make sure you enjoy your daughter!

  • My son Joshua saw two genetics doctors at Children's Hospital in Washington D.C. He was diagnosed through DNA at 6 weeks. Not all cases are genetic so it may take longer to diagnose. He saw Dr. Zand and Dr. Rosenberg from Children's Hospital. They were great and could give us some warning about what to expect with Joshua. Joshua had feeding and breathing trouble--but at 11months we had tongue reduction and that helped so much. At age 3 he had his tonsils removed and he was able to stop his breathing treatments. Try to visit a pediatric geneticist at a Children's Hospital.

  • Thank you for you reply and sharing your experience. It sounds like everything has went well with your son. I would like to know if you don't mind How was your son with the operation and the healing process? I am scares of the discomfort my daughter might go through if it comes to that.

  • Hello. Joshua had one of the most difficult recoveries they have ever seen--but I do not regret that we did it. He stayed longer than most after the surgery (14 days in the hospital). When he came home he stopped drinking or eating and had to have a feeding tube through his nose. I didn't give up every two hours trying to get him to nurse and he finally drank again. About seven days after the first drink, he tried to eat soft foods. By his first birthday he was totally recovered and all the benefits were showing. For example, he has fewer breathing and eating difficulties. I'm a big proponent of the surgery. Ask your surgeon to show you photos of the surgery and what it looks like afterwards.

  • Hi. My son was diagnosed with Beckwith as he was being delivered April 26, 1974. Yes, he is 39 years old. At that time they didn't do ultrasounds during a pregnancy. My doctor thought that I was having twins or about a 9 lb baby. Well, Jeff was 12 lbs 8 ozs, 24" long & was a vaginal birth. The pediatrician that was called in before my son was born knew immediately what was wrong. The baby had the classic characteristics of Beckwith Syndrome. At the time they didn't allow the daddy's in the delivery rooms. I was watching the birth from a mirror placed at the end of the table & suddenly they blocked my view, I heard my son cry & next thing I'm being told that my baby "has a problem & we don't know if he's going to make it". SOMEBODY WAKE ME UP FROM THIS TERRIBLE DREAM!!!! When they told my husband, he insisted on seeing our baby. They would let me see the baby yet. My husband told me later that his intestines were out & laying across his belly like "a loaf of bread", his tongue was huge & looked like the size of an orange & purple, he was dangerously hypoglycemic & dangerously jaundiced. Little Jeff's shoulder was broken during his delivery due to his size. They told us that he'd probably be retarded if he lived. His right side was larger than the left especially the right kidney. A nurse baptized him & they rushed him to our Children's Hospital where he had abdominal surgery within two hours after his birth. Needless to say I was not in good shape after the delivery. I didn't see my son for two weeks. My husband would give me daily reports on how our baby was coming along. The edema from the birth had lessened & the size of his tongue had shrunk some. Next was the challenge of finding a plastic surgeon that had experience with macroglossia. Most of the doctors never even heard of Beckwith Syndrome. Their answer would usually be "HMM, wow never heard of it. It was a very very frustrating time. We were worried sick & so scared for our son. Never ever let a doctor tell you that he will "grow into & with his tongue as he gets older". By the time our son was almost two months old his tongue hung down to his chin. But he was sooo cute! I couldn't breast feed because of his tongue. We feed him through a stomach tube & we would also let him try to suck on a bottle laid on the top of his tongue. We would open up the holes in the nipples (preemie nipples were more pliable). We would let him suck for a little while. He would tire & then we'd finish his feeding through the G-tube. I must say he loved to eat. Then we finally found a micro plastic surgeon that actually wrote articles on tongue reduction & Beckwith Syndrome. Jeff had his first tongue reduction when he was almost 3months old. The surgeon removed two-thirds of his tongue & reduced as much of thickness that he could. There's a lot of muscle in a tongue. He was able to leave the saliva glands & the taste buds. Jeff did well in the healing process. However, the doctor told us that it would take quite awhile for the swelling to come down. Before we took our son home the doctor removed the G-tube. Even though his tongue was really swollen, that little guy had no problem eating. He loved cooked cereal like Farina, Malto-meal & Cocoa Wheats. He could drink from a straw before he turned one & he loved that. We never talked baby talk to him. We would annunciate certain letters like "S" "L" "D" & "TH"& so on per doctor's instructions. We made an awful lot of doctor visits as you all know too well. Starting school was the next chapter. Just to let you know my son is 6' 5", size 14 shoe, huge hands, long fingers, broad shoulders, he doesn't have a belly button (he was always self conscious of that),his "wingspan" fingertip to fingertip arms out is 7ft with a sleeve length of 39" (hard to find). He does have poly cystic kidneys but they're stable. He has high blood pressure due to the cystic kidneys & he recently was diagnosed with a pituitary tumor that they're keeping an eye on. Jeff had another tongue when he turned 21--his choice. He wanted additional thickness taken. They removed quite a lot of muscle. Two months later he had jaw reconstruction due to an underbite (which wasn't too bad). Wow what a difference those two surgeries made for him. Not everyone will go through the same scenario. Every case is different. When Jeff was born we were told that he was only the 14th recorded case in the United States. Now it is one in 15,000 births. He was worried about having children. He does have a 9 year old daughter that is perfectly healthy. My son is not retarded as they thought he'd be. He played sports all through grade school with basketball being his first love. He has a bachelor's degree in sports &physical science, played college b-ball &works in law enforcement. I wanted to tell you about his life so it gives you positive thoughts. I know it's so hard watching your child go through all the challenges. You will need to be an advocate for your child in many ways. Give your child lots of hugs & love & encouragement forever. Everything will be alright with God's love. When Jeff was only a day old we were told by the priest that married us that God gives special children to special people. I will always remember those words. Hugs to all of you. Feel free to ask me any questions.

  • Thanks for sharing your story :D

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