My daughter was born on June 18th, 2003. My pregnancy was uneventful, but 3 days after my due date, she stopped moving. At my OB's office, fetal distress was detected and an emergency c-section was performed. The umbilical cord was wrapped around her neck 3 times, and she was kept in the neonatal ICU for 3 days. We were told at the time that there was possible brain damage.
During her first year, she met her milestones 1 - 2 months later than she should have, but otherwise seemed okay. She started walking at 13 months but could only go 2 - 3 feet before falling. She was also delayed in speech, but we attributed that to learning 2 languages, English and Spanish. At 18 months, we had a play date and were shocked to see another child who could talk, play with his toys and whose gross motor skills were so much better. I discussed this with our pediatrician who only recommended speech therapy. A few days later, she became extremely dizzy and we took her to the ER. A CT was performed that showed extensive brain damage consistent with lack of oxygen from birth. Thankfully, they recommended an MRI which was performed 3 weeks later. The MRI showed widespread demyelination and suggested a metabolic disorder. The following week a neurologist ordered an amino acid profile which showed that her leucine was over 2000.
At the time of her diagnosis, she was 19 months old and her balance was extremely poor, she could only make a "ba" sound and her fine motor skills were delayed as well. She was started on speech, occupational, and physical therapy. She only needed physical therapy for 1 month because her balance improved so much with the low protein diet. Six weeks later she caught a cold and stopped eating for a day. She became lethargic and was life-flighted to Miami Children's Hospital. We made the very difficult decision to have a g-tube placed, because we didn't want to risk brain damage from minor illnesses.
Not much changed for 6 months after that, and then suddenly she started talking. She was discharged from speech and occupational therapy less than a year after her diagnosis. We started her in Montessori School at 2 years old and she thrived there. Finding the right formula was very difficult for us. She uses MSUD Express by Vitaflo. It is pretty much just amino acids, vitamins and minerals. I mix it with juice, and she actually prefers it to food. I think it must make her feel better, because if she starts getting emotional, her juice calms her down. Unfortunately, she is getting cavities from all the sugar. We are hoping that with aggressive brushing and flossing we can keep these under control until her permanent teeth come in.
We removed the g-tube 10 months ago and have had no problems. Her leucine tolerance is 1200 mg a day. I have been a vegetarian for years, so we don't eat any meat in our household. She understands that we don't eat animals because we like them. Her favorite foods are avocados, tomatoes, low protein pasta, and rice with lots of butter and olive oil. We started her in a new school last month, and after the second day, her teacher told us that she was "smart." She still plays with the little boy who was so far advanced at 18 months, but we can no longer tell any difference in the two children developmentally.
She has always been the happiest child I have ever seen; we are so thankful for our daughter and proud of her.
Mother's story (name reserved)
- Category: Volume 24-2