Mollie was born 21st May 2001 in Melbourne, Australia.  It was a fairly difficult pregnancy - no single major trauma but just a stressful time.  I had bad edema (swelling).  I now know BWS probably made this worse because a child with large kidneys produces extra fluid, but at the time I just felt like bursting!  The only other clue we had during pregnancy was an early ultrasound that showed short thigh bones – we were told this can be a sign of chromosomal problems, most commonly Downs’ Syndrome, but there were no other indicators.  At the same time our 1 year old Ben was recovering from a serious illness (unrelated to BWS) and we moved back to Australia from the UK when I was 7 months’ pregnant with Mollie - not a comfortable way to travel!!

 

Mollie’s arrival itself was pretty uneventful.  As soon as she was lifted onto me I noticed her very dark stork marks, but I had seen them before on other children and wasn’t worried.  The only strange thing I recall was that the placenta and cord were large and looked really disgusting!  I vaguely wondered why someone had tied the cord up - later we found out Mollie had tied a “true knot” in utero as well as looping it around her neck.  At some stage she was taken out of the room on some gentle excuse that we bought briefly … But after a while when she didn't return, we knew something was wrong.  It turned out they were worried about her large tongue.  They spent most of the next week running what seemed like every test ever invented – blood tests, brain scans, heart scans etc.  I felt so protective of her.  I knew she needed all this done but just wanted them to leave my little girl alone!  One very sensible pediatrician realized that Mollie’s umbilicus was going to herniate so she stitched it, on about day 2 I think, and only a very small hernia has ever appeared despite quite a noticeable split in the abdominal wall (still there at age 3, but getting better).  They found a couple of small holes in the heart, eventually also quite high grade kidney reflux, one ear crease (later dismissed), slightly concerned about her odd head shape (prominent occiput), low muscle tone, but the main worry was the unexplained macroglossia.

 

Breastfeeding was hard work but not really a serious problem.  In the first few days after birth, several midwives and lactation consultants told me “not to bother”.  To this day I don’t know if they did it deliberately, but with my personality it just made me think “you just watch me!”  Don't you tell me I can't do this!  We had trouble getting a good seal because of her tongue so she always swallowed a lot of air and had stomach pains, but the biggest hurdle was that it was impossible to tell when Mollie had eaten enough.  She would thrust with her tongue and push herself off me every few mouthfuls, so I would shove her back on, and in hindsight I think I practically force fed the poor kid for many months!

 

Mollie had a few hospital stays for UTIs, once for about 10 days, because of her kidney reflux, but she seems to have outgrown the problem and she has never needed surgery for it.  She also always had “mysterious things” going on with her digestion, but that’s also improved with age.

 

In Feb 2002 (aged 9 months) Mollie had her first oral surgery, to release a significant tongue tie and have some plastic surgery on the floor of her mouth and under-side of her tongue.  We decided to do this first without TR because there was just a small chance that the tongue tie was holding her tongue forward, making it look worse, and maybe TR wouldn’t be necessary.  After the surgery, our lovely surgeon came and told us that it had gone well but he had a “good look around” and her tongue was even bulkier at the back than we had thought, and he was more convinced than ever that TR was necessary to reduce the chance of jaw damage.

 

TR was performed in May 2003, the week of Mollie’s 2nd birthday.  The build-up to it was so much worse than the surgery itself.  All those fears about whether we were doing the right thing, trying to convince ourselves in the days leading up to surgery that maybe she was suddenly growing into her tongue after all … I’ll never forget two things that her surgeon did.  As soon as the surgery was finished, he immediately came to us personally to sit down and tell us how it had gone.  Then he went back to theatre and told us to meet him in ICU, and as they brought her to ICU, instead of wheeling her in on a trolley, he personally carried her down the corridor and handed her back to us.  It was very symbolic.  It felt as though we had entrusted our child into his care for a time and he was handing her back in a way that demonstrated his very real love and compassion for the children he looks after.  Such a small thing but I’ll never forget the humanity of it.

 

Here are pictures of Mollie one day and 3 days after surgery, to show the difference.

 

We had spent a lot of time and worry deciding what sort of TR was most suitable for Mollie.  TR at the back of the tongue (leaving the tongue tip alone) has more risks, including increased risk of nerve damage and less control over removing the right amount of tissue.  But our surgeon felt he could remove more of the bulk at the back of the tongue this way and he felt it would be better for Mollie’s case.  We were fortunate not to have any nerve damage or airway problems after surgery, and Mollie’s tongue looks much better than before.  It's perfect at the front and an odd shape at the back only if she sticks it right out, excellent mobility, but it's possibly still too large.  Hard to tell for sure – hopefully I just worry too much.  She still has a small cross bite but we think it is still improving.  She talks with a lisp but starts speech therapy in a few weeks so we may be able to add something positive about that in another year.  Certainly her vocab is great for a 3 year old and physically she's advanced to the point of being a nightmare to live with!  The early fears about brain damage and other “unknowns” have proved completely unfounded.

 

It wasn’t until early 2004 (aged 2 ½) that we finally got a confirmed diagnosis of BWS.  This has been the biggest challenge for me and belonging to a support group helped enormously.  I struggled against the system for a long time to get the screening protocol approved and to fight for more comprehensive genetic testing, because our doctors didn’t think a clinical diagnosis was justified.  Genetic testing eventually confirmed loss of methylation at LIT1, the most common known genetic marker for BWS.  It’s a strange mix getting that news - a bit of a body blow knowing for sure but also a huge relief to have a definite diagnosis, confirming what we had "known" in our hearts anyway, and it's good to know that it is BWS and therefore manageable, and finally to be able to stop fighting and just get on with living.

 

One year post TR, our beautiful girl continues to bring so much into our lives.  The BWS chat group has been a lifeline for me at times.  Tim’s one concern about belonging to the group is that he doesn't want Mollie to be identified or labeled by BWS – she is so much more than that.  So I belong to the group on behalf of both of us, to share information and continue learning, and I do get a lot from friendships made here for which I’m grateful, but we are determined that Mollie will grow up knowing that she is a perfectly normal and wonderful individual, and BWS is just one little part of her very special life.

 

Sarah

18 July 2004