Livia was born September 3, 1998.  She has what doctors describe as “classic” BWS.  Her characteristics include macroglossia, hypoglycemia, hemihypertrophy, umbilical hernia, earlobe crease, prominent occiput (enlarged back of the skull), and nevus flammeus, and a slightly early birth with a fairly large birth weight.  Even though Livia had all of these characteristics, she wasn’t diagnosed until about 5 days after birth.  The diagnosis was made mainly because of her hypoglycemia. 

At 19 months, Livia still has hypoglycemia and it has been probably the most difficult problem we have had to deal with.  Livia spent 8 days after birth in the Neonatal Intensive Care Unit, because of blood sugar levels that just wouldn’t stay normal.  She would take about an hour to get an adequate amount of food in her and then 2 hours after her feeding, the nurses would check her blood sugar and it would be back down between 19 and 30.  Nurses kept telling my husband and I that this was common and her blood sugars would be normal soon.  On day 5, the doctor that headed the NICU diagnosed BWS.  After he diagnosed BWS, they put Livia on a drug called Diazoxide and that kept her blood sugars at a normal range (as long as she ate every 2 hours). Until she was about 1 year old, I still had to feed her every 2 hours around the clock and she was still on a high dose of Diazoxide.  If Livia wouldn’t eat, we would have to take her to the ER for IV dextrose.  Then, things started to get a little better.  We were able to decrease her Diazoxide by half and she could go about 8 hours without eating. 

When Livia was about 5 months old, we thought about having a G-tube put in place for feedings.  But, by then, she was used to her schedule and eating well.  We spoke to another BWS mother whose child had a G-tube.  Thanks to her good advice, we decided not to do this.  It’s been difficult, but we don’t regret our decision. 

When Livia was about 1 month old we had a scare with her AFP levels.  This was the first time they had checked her AFP levels and they were at 55,000, which is much greater than normal.  She was put through a CT Scan and an MRI and nothing was found.  Two weeks later, her AFP levels were checked again and they were down to 33,000.  We had Livia’s AFP levels checked every 2 weeks until she was 1 year old and they have gradually gone down since then.  We now have her checked monthly along with her liver function tests. 

Through Livia’s first months, we complained about her breathing a lot.  It seemed as though she was breathing very heavily.  We took her to several specialists, but none seemed to be concerned about her breathing.   It wasn’t until Livia had her umbilical hernia repaired at about 5 months that our surgeon discovered that she wasn’t breathing well on her own.  The umbilical hernia surgery led to several days in the hospital and a year of  supplemental home oxygen through a nasal cannula.  Livia’s heart was enlarged because she had been struggling to breath for so long.  A team of physicians at the hospital felt that Livia’s need for supplemental oxygen was due to her large tongue and the crowding of her abdominal organs pushing on her diaphragm.  She is off of oxygen now and  seems to be doing OK, but we pray we don’t have to put her on it again.

At 14 1/2 months, Livia had tongue reduction surgery. Thanks to Dr. Jeffrey Marsh and everyone at St. Louis Children’s Hospital, the surgery and recovery went very smoothly.  Livia only had to stay in the hospital for 2 nights and 3 days and was back to her old self within 2 weeks.  Now, her tongue looks great, she eats better, and she speaks wonderfully.  At 19 months, she doesn’t need speech therapy, but we do follow up with a speech pathologist regularly  just to make sure she isn’t falling behind. 

At 11 months, I started teaching Livia sign language and I believe this really helped her to be able to communicate before her tongue reduction.  At 13 months, Livia had a vocabulary of over 50 signs.  Livia is a very bright girl.  Her cognitive development at 17 months was at a 2 year old level and she never ceases to amaze us with the things she understands and knows!  When Livia was 2 months old, we were told by a Pediatric Endocrinologist that supposedly specialized in BWS that she WOULD BE (not that she may be) developmentally delayed and she WOULD HAVE TO BE in special education classes when she went to school.  He even went on to tell us that the only way she would be normal is if she was destined to be a genius and then the BWS may not effect her that badly. Luckily, we had the support of Susan Fettes at the Beckwith- Wiedemann Support Network, and she informed us that most BWS children do have normal intelligence.  We are very happy to say that Livia is proving this doctor wrong in a big way! 

Livia also has liver disease that is unrelated to BWS and will probably need a liver transplant at some point in her childhood, but that is an entirely different story.  I will just conclude this story be saying that Livia is the biggest joy of her father's and my life and has taught us so much!  We couldn’t imagine a more wonderful little person and we know she has a bright future ahead of her! 

- Jill

April 2000