Fiona Midori King

Fiona Midori King

Hope 4 Fiona

NTSAD 2012 Family Conference - Sunday June 10, 2012


At the end of April, we attended the National Tay-Sachs and Allied Diseases (NTSAD) Annual Family Conference in Orlando, FL. I don’t think there are words that can truly describe my experience; “overwhelming” doesn’t begin to explain what Pax and I went through. I experienced a wide range of emotions during that trip as I felt a combination of emotional highs and lows. There were moments I felt hope & comfort and then moments I felt saddened & defeated.  Overall, we learned a lot & I was glad for the opportunity.

When Paxton and I were in our darkest hours after Fiona was diagnosed, we searched for answers to this disease. Painfully, we came to know the heartbreaking truth of the matter-there simply weren’t any answers available and no cure. NTSAD supported and connected us with other families that were in the same situation we are in, and although we were sad, we didn’t feel alone anymore. We are very grateful for NTSAD and the support this organization has given us.
The conference included updates on recent research findings from scientists working towards a cure, support group sessions, and practical information and tips on how to raise a child with a rare, debilitating, neurologic, genetic disease.
We learned a lot from some of the other families and were touched by their stories. The families were all so willing to share their stories with us, and they were able to provide us with honest glimpses into their everyday lives. Our main source of information and comfort has been other parents that we met through the NTSAD. These parents were able to answer the day to day questions we had that our medical team could not answer.  When Pax asked the physicians at Mayo Clinic Rochester about their experience with GM-1, one physician had never seen a patient and another had treated one patient over 20 years ago.  By networking with other parents, we could talk to individuals with years of experience.  Although every case is unique in its rate of development and decline, the insights from other families were both overwhelming and invaluable.  We learned about the best types of juvenile wheel chairs for paralyzed children, that at some point we’d need a live-in nurse, that we’d need to implant a feeding tube, that our child would develop severe pneumonia… It gave me some comfort knowing that there were other families that I could draw strength from.  It also helped to lessen my feeling of isolation.  I learned that there are two types of feeding tubes, one that is placed through the nose that goes down the esophagus and into the stomach. The second type is inserted through the abdomen and connects directly to the stomach. There was even a way to implant a tube directly into the intestine which is important because the GM-1 children can develop stomach and esophageal reflux and aspirate food into the lungs, causing pneumonia.
At the conference, we were able to see all that's involved with raising & traveling with a child with a rare disease. I saw families who needed to carry so much equipment with them for their children-suction machines, oxygen machines, nebulizers, and big boxes of medication. It was quite an eye opener and a difficult glimpse into our future.
At 10 months, Fiona is doing reasonably well. Fiona is not on daily seizure medication and is still quite alert and reactive despite the physical limitations of her body. Fiona takes her meals by mouth and not through a feeding tube. I take care of her at home without 24 hour nursing assistance and have had no emergency hospitalizations. Fiona is comfortable and as healthy as she can be, and for that we continue to be grateful!

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