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Propionic Acidemia

This is the story of my granddaughter.

Simona, born July 1996, came into the world a month early. Almost immediately it was evident that she was not like the other preemies – she didn’t move much and didn’t really cry. She also didn’t want to eat. Although they said they’d keep her at the hospital until her actual due date, she was sent home after only 10 days. Simona was still inactive, quiet, didn’t eat much, and periodically her eyes would roll back in her head. At her one-week check-up, her body core temperature was lower than normal and her activity level hadn’t changed. She wasn’t taking any formula, wasn’t having regular stools, and was limp and lethargic. The doctor said that this was typical for a preemie.

Two days later she wasn’t doing any better. She was nearly unresponsive, difficult to wake, and wouldn’t eat. We took her into emergency, but they just wrapped her in warming blankets for an hour and sent us on our way. Routine lab work was normal and the doctors again said that this was normal – preemies sleep more and can have a hard time regulating body temperature.

Later that evening I awoke to Simona’s gasping. I went to her and found her choking on thick white mucous coming from her nose and mouth. I quickly wrapped her in a blanket, woke her mother, and we were on our way to emergency again. In the car, my daughter used the suction bulb to clear away the mucous. In emergency they ran labs again and came in to say that Simona was a very sick little girl – but they didn’t know why. Her labs had been fine just a few hours earlier. She was air-lifted to DeVos Children’s Hospital in Grand Rapids (about 40 miles away).

Upon her arrival she was admitted to the pediatric critical care unit. For two days she fought for her life while the doctors tried to figure out what was wrong. Twice she required resuscitation. Finally, urine and blood samples were sent to Boston Children’s Hospital where Dr. Kelly diagnosed Simona with PA. She required 3 blood transfusions to clear the ammonia from her system. She had surgery for a G-tube and Neisen wrap. After finding the right combination of formulas, vitamin supplements, and meds she stabilized. The medical team had us stay an extra week so that we could learn, hands-on, what her around-the-clock care would be. (Feeds every 2 hours, meds, hooking up the heart monitor, infant CPR, and information on PA.)

At the time of Simona’s birth, my daughter had just turned 16 and Simona’s father was 17 – each with their own problems and not prepared to give the level of care Simona would require. Before her discharge from DeVos, it was determined that I be appointed Simona’s legal guardian.

The Social Worker at the hospital gave us information on resources that are available for children with special needs. One of the resources was the “Early On Program”. They came out to our home 3 weeks after Simona’s discharge from the hospital. They started her on physical therapy twice a week, and at 18 months of age she began occupational therapy twice a week. At 3 ½, she began speech therapy. Visiting Nurses were another resource we were able to access for the first month after returning home. They came to read the heart monitor, check vitals, and answer any questions we might have. Initially, there were weekly lab runs to Grand Rapids, but now we only have labs every six months.

Simona has come a long way since then. She still continues to amaze me. She attends school in an SXI classroom with a few hours of inclusion in regular education classes each week. Simona loves school and the bus rides. School evaluations place her in the 1½ – 2 year-old range – but she is much brighter than her scores convey. She understands a lot and has a great sense of humor! She is unable to communicate verbally, but does say a few words and continues to work on feeding independently. She loves music and likes to play “cooking” and dress-up with her hats. At home, she likes to crawl around the house. Simona is able to walk a few feet with her AFOs, a walker, and someone to assist in guiding the walker. Her hips move in and out of their sockets and as she grows, it is getting more difficult for her to walk. She’s graduated from her big stroller to a wheelchair and is able to move herself a little on her own.

We have been very lucky, having very few hospitalizations since her initial diagnosis 9 years ago. Her medical team has done a tremendous job working to regulate medication and diet and in keeping her healthy. Simona gives us reason to celebrate — not just her daily accomplishments, but having her in our lives!

Grandmother & Guardian to Simona, 9 years old
Propionic Acidemia

From the Fall 2005 OAA Newsletter

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