One Family's Experience: The Philadelphia Story

This is the story of Becca Waldecker's participation in the myo-Inositol study at Children's Hospital of Philadelphia.

Becca, our 7 year-old daughter, was mistakenly diagnosed with cerebral palsy when she was a toddler. Her physical therapist questioned that diagnosis and urged us to take her to a nearby teaching hospital for evaluation. There after one blood test, the pediatric neurologist delivered the devastating diagnosis that Becca wasn't just a "wobbly" walker, she had A-T. The neurologist's explanation of this disease, its progress and Becca's impending deterioration devastated our family. Many nights we cried ourselves to sleep more in frustration over the fact that there was nothing we could do to prevent this syndrome from ravaging our daughter's body.

Becca, age 7

We stepped back from the acute situation, took all things into consideration, then decided to live life as before our hearts were broken. Next, came the flurry of attention the Margus family generated with their AT Children's Project. We were buoyed with enthusiasm for gene therapy and all the research in those areas.

We then received a mailer from the Howard's AT Project about the nutritional research they were doing and I was immediately interested. I contacted Mary Howard who told me of a study they were doing in Philadelphia. She explained her theories of nutritional supplementation in this syndrome that made perfect sense to me. If AT victims metabolize things differently than the rest of the general population it would make sense to supplement in areas where their bodies just won't work efficiently. I knew my options were nil with traditional medical approaches to AT, so I thought "What do we have to lose?"

The physician in charge of the study, Dr. Berry, contacted me and then my daughter's pediatrician to inform her of exactly what they'd do in the study. My Becca's pediatrician's philosophy was, you have nothing to lose and everything to gain.

Becca was in kindergarten, the perfect time for her to be a study subject without missing too much school. It was February in Wisconsin and spring wasn't looking any closer than four months away so we jumped in a plane and headed off to Philadelphia.

Becca had never been hospitalized for anything before, so this was her maiden voyage into health care. We had a private room and I stayed right in the room with Becca. The nursing staff was superb and very accommodating. They all loved working with children and it showed.

The first leg of the study lasted one week. We met the Immunologist, Pediatric Neurologist and Ophthalmologist all during her baseline assessments. It was nice from a mom's point of view to have all this done at one institution and have each come to us to discuss the aspects of my child's case. These specialists have seen more than a few AT kids. So many pediatricians, neurologists, etc., have never seen anyone with AT. Most of their information is from a textbook, but in Philadephia we had a team used to seeing AT kids and were thoroughly familiar with the necessities of a workup.

The stay is long, but there are tons of activities to do in the hospital: great playrooms, video games and activity directors. For the older kids, there's a teacher that travels around the hospital for any who need tutoring (something to keep in mind for the older kids missing school). You won't be totally confined to the hospital for the first two days. You can check out on pass to see some fun things in a beautiful, historic city. The last three days of the study is when the blood draws occur so you are confined to the hospital then. The blood draws are taken from a line that is stationary so your child has only one poke with a needle. Then you are given either Inositol or a placebo. You are sent home with this and instructed on how to take it. Neither mixture has an offensive taste so there are no hassles in getting your kids to take it. You then return to Philadelphia in about three to four weeks for a short two-day stay.

We waited a month and repeated the cycle again. It was three weeks of time invested for us. Becca and I went by ourselves on the two-day trips. We made a family vacation over Easter week, and my dad went with me the first week-long trip.

The rest of the family stayed at the Ronald McDonald House that is absolutely delightful. The Philadelphia Ronald McDonald House is a beautiful old mansion that has been renovated. There is a totally wheelchair-accessible wing also. It is a wonderful respite where all the families have been through what you have. There is a kinship you form with these people. There is something profoundly moving to see strangers and their children all hoping and living against insurmountable odds to give you strength enough to say, "Perhaps I will give this study a try." The staff is very attentive, full of direction giving, hand-holding and other custodial duties. There are kids' activities too, so there never is a worry about, "What will the well children do?"

The study did not pose a financial hardship for us. The A-T Project paid the air fare for Becca and myself. We needed to pay for the McDonald House ($15 a night), cab fare from the airport to the Ronald McDonald House and spending money. All these are expenses you can write off on your taxes for medical expenses (save your receipts). Also, the law in Wisconsin qualified this as a Family Leave so we were never in danger of losing our jobs due to so much unplanned time off.

I am very glad we participated in this study. We had NOTHING TO LOSE by investing our time in it. I learned new things about AT and met people who are truly committed to making a better quality of life for these kids.

On one arm of the double blind study, which we assume was the inositol and not the placebo, we observed that Becca's endurance was much better. She no longer asked to go to bed at 7:00 p.m. Her drooling stopped. Her gait wasn't as ataxic as before and her coloring was better.