Brit at 3.5 years old

Brit was born on March 28, 1999 at 27 weeks 5 days gestational age weighing 1.040 kilos (2 lbs. 4 1/2 oz.). She was the first of our girl/boy twins. Brit's twin brother is Zach and she has a little sister named Meged. Our family lives in Israel and we have an older "daughter" - a Golden Retriever named Oakie. The photo to the left shows Brit at 4 months old (or 1 month adjusted age for prematurity).

When Brit was first born her large tongue was already evident. She stuck out her tongue quite a lot right from the start, yet our efforts to get an explanation for this were met with sarcasm and derision by the NICU staff. Over time, the disproportion of the tongue became worse. Eventually she was no longer able to keep her tongue in her mouth at all, except for quite rare moments of 3-4 seconds at most, nor was she able to keep a pacifier in her mouth without our assistance. Now she has begun to 'practice', so to speak, with keeping her tongue in her mouth - we think this might have something to do with the irritation caused by her new baby teeth. 

 After she was released home, problems with feeding began. After trying out endless bottle nipples and being near tears ourselves at each feeding, we finally found a nipple that worked well for her (Pur) – and she was able to maintain an average growth of ~250gr/week until the growth curve naturally began to decline as she got older. All we can say is that nipples such as those which use more holes (those which are based on creating a vacuum) rather than bigger holes to increase the flow are not appropriate for babies who use their upper lip together with their tongue to suck. Brit was completely unable to get the suction right with those nipples. Just a standard nipple with one hole (we found that the medium sized hole worked well for her right from the start) is the only way to go. Nevertheless mealtimes take quite a long time for Brit. In the beginning it would take her an 1 1/2 hours to finish her bottle - and it would tire her out completely. Now things are much better and mealtimes are more relaxed if still requiring lots of time.

She drooled a lot and during sleep snored from time to time as well. She also had problems with her tongue drying out. We tried to help her keep it moist with water drops and such, but of course, during the night we couldn't do this and by morning her poor tongue was wrinkled up and parched. Both the drooling and tongue drying out have gotten better as she's gotten older and is better able to control her tongue. Luckily she has had no breathing problems to date. One explanation for this (as most doctors are quite surprised at how well she breathes with such a large tongue) is that perhaps the bulk of her tongue is anterior rather than posterior and this keeps the airway free.

In August 1999, Brit underwent extensive testing in order to determine why exactly she had such a large tongue and what could/should be done about it. The tests were conducted at Schneider Children's Hospital and included:
 - Ultrasound of the tongue 
 - Ultrasound of the head 
 - Ultrasound of the abdomen 
 - Thyroid gland tests 
 - Radioisotope scanning of the tongue 
 - MRI of the tongue 
 - X-Ray of the head 
 - Genetic tests (inconclusive negative results for BWS) *
 - Saturation monitoring during deep sleep 
      *currently there is no conclusive genetic test for BWS

The tests ruled out every other possible cause for her macroglossia, so the two explanations which remain (and that the medical staff is divided about) are: 
 - Isolated Macroglossia or
 - Beckwith-Wiedemann Syndrome. 
The only other symptoms associated with BWS which Brit exhibits other than macroglossia are minor naval hernia and nevus flammues ("stork bites"), therefore we at first believed that the likelihood of Brit actually having BWS was quite small. However, we learned that in order to be diagnosed as having BWS, the child needs to exhibit two out of the three major characteristics which include 1) macroglossia, 2) abdominal wall defects and 3) growth above the 90th percentile for the child's age. Since Brit actually shows all three of these signs, it was decided that there is a high likelihood she indeed has BWS.

The corrective treatment recommended to us was tongue reduction surgery. There seems to be a lot of difference in opinion within the medical community as to when is most beneficial to do such a surgery. Therefore the decision as to when the surgery would take place was a difficult one for us to make. We wanted to balance Brit's maturity and ability to undergo and recuperate from the surgery with the desire to prevent as much as possible any adverse effects her large tongue will have on speech development and orthodontic development. We thought the best time would be approximately one year of age and we did find highly recommended doctors who agreed with us. In looking for a surgeon, it was important to us to find someone who had ample experience and a proven track record with this specific type of surgery on very young children. Due to the fact that BWS is so extremely rare, in Israel there is not sufficient experience with this type of surgery and so we began searching for a surgeon abroad. It seemed that the bulk of the experienced surgeons for tongue reduction surgery were in North America. We finally decided to go with Dr Jeffrey Marsh at St Louis Children's Hospital in Missouri . We feel very confident with Dr Marsh and are really happy with his 'human' approach - as well as the more important fact that his record in this specific surgery is outstanding, with no trachs ever required post-op to date (except, of course, those kids who came in with a trach). Another critical aspect of our decision making process was that no child on whom Dr Marsh has done a tongue reduction has ever had to return to have a second surgery - although he has done second reductions on children who were originally operated on by other surgeons.  Brit's surgery will take place May 17th of 2000 when she will be a year and 2 months old (or 11 months old adjusted age for prematurity). 

In the meantime, Brit is developing just fine and is otherwise a happy, healthy baby. Due to her eating problems, she was such a fussy baby in the beginning. We nicknamed her 'the barracuda'. And now our little barracuda has turned into a real kitten. She has such an angelic personality most of the time (although when angry, she can be a little tigress!). And we think she smells like cotton candy. She and her twin brother Zach are the best of friends and it's so hard to believe that a year has already gone by since their rather shaky beginning. Brit will have the AFP tests and abdominal ultrasounds every three months as recommended. We continue to have a positive outlook and hope for the best.

Julie and Yaki
April 10, 2000

Our post tongue reduction surgery update