Audrey Neal's Web Site

Thanks for visiting Audrey's web page! Audrey is a very special child, and we would like to share her story with you. This page is current as of May, 2006. Audrey is now 3 years and 2 months old.

Audrey was born in Texas, at the College Station Medical Center. The pregnancy was difficult, with some complications including spotting in the 2nd tri. Audrey was clearly not growing well, and she was diagnosed with IUGR, intra-uterine growth retardation. Audrey was born at 37 weeks by an induced labor/c-section. She weighed in at 3 lbs 12 ounces -- tiny for a full-term baby!

Audrey stayed at the College Station hospital for a week then was transferred to Texas Children's Hospital in Houston for an additional 3 weeks. During this time, she had difficulty feeding, vomited often, failed to thrive, and required oxygen. In the hospital, they determined that she likely had a genetic syndrome, but they were unable to diagnose it. They did a huge number of tests (TORCH screen, chromosome workups, sub-telomeres, x-rays, etc). We went home with a laundry list of symptoms but no diagnosis.

We brought Audrey home at 1 month of age. She continued to struggle with feeding and growth, and we were frequent visitors to the hospital and doctors offices. At about 4 months of age, Audrey had her "Mic-Key button" feeding tube put in. At 6 months, she had her VP shunt surgery for hydrocephalus. At 8 months, she was diagnosed with pulmonary hypertension. And at about 14 months, she had a catheter procedure to repair her PDA heart defect.

In the hopes of finding a diagnosis for Audrey's syndrome, we moved from Houston to Boston in May of 2004. We've made friends with doctors in nearly every specialty at the Children's Hospital of Boston. We've also had the opportunity to visit with the doctors at the National Birth Defect Center in Waltham, MA.

Audrey is a bit over 3 years old now. She's long and lean -- 33 inches long and about 18 lbs. That makes her the height of an average 24 month old, and the weight of an average 9 month old. She's very chipper and has a great personality. Her language skills continue to amaze us -- she's about average for her age, stringing 8-10 words together in sentences. Audrey has many hours of therapy each week (PT, OT, vision) and attends preschool at the town's public preschool 3 mornings a week. She wears glasses and orthotics and walking independently.

Audrey's diagnoses:

• Mitochondrial disease (in complexes III and IV)
• Small stature -- way under the 3rd percentile for height
• Failure to thrive -- way under the 3rd percentile for weight
• Hydrocephalus, treated with a VP shunt
• GERD (reflux) -- Audrey tummy hurts a lot and she vomits often
• Pulmonary hypertension -- mild, possibly resolving
• Feeding problems -- she uses a feeding pump 24 hrs/day
• Hypotonia (low muscle tone), scoliosis, and kyphosis
• Developmental delay -- especially with gross and fine motor skills
• Vision problems -- legal blindness, extreme farsightedness, nystagmas, strabismus, blue sclera
• Normal language development (yay!)
• Congenital heart defects -- ASD (closed), PDA (repaired), mitral/tricusp regurgitation
• Dysmorphic features - synophrys, hirsutism, small ears, frontal bossing, etc.
• High blood pressure, off and on
• Kidney problems -- reflux, enlarged kidneys and ureters
• High WBC count, now in the mid 20s, unexplained
• Umbilical hernia (repaired in Dec. 2005)

My Favorite Web Sites

United Mitochondrial Disease Foundation
The Genesis Fund
Children's Hospital Boston
Texas Children's Hospital