by Sara McGlocklin

In August, 2015, when Marian was born we knew there was something slightly wrong.

Her legs were so thin, her cry a little quiet. Her legs and arms hung loosely at her sides when we held her (often recognized as mild “floppy baby” or low muscle tone.) She gagged on her bottle and choked easily. We thought it was because she was a touch early, a little small and delicate. Never did we imagine she was showing early symptoms of a progressive, fatal condition.

Marian can only be described as having a sweet and magnetic spirit. Her development was normal in almost every way except a couple things – her gross motor skills were lagging behind, but getting there, and she wasn’t quite imitating facial expressions and speech. In May 2016 we began early intervention services and started seeing a neurologist. In September 2016 we connected with Children’s Hospital of Los Angeles (CHLA.) CHLA discovered an enlarged spleen and borderline enlarged liver. They also began to prepare us for the likelihood of a likely untreatable storage disorder. At the time this was shocking, Marian was making progress. She was getting stronger, not weaker, not dying.

We desperately sought out every specialist we could in order to find a diagnosis. We did not know what to do but tried to get her in front of every specialist that seemed reasonable. We also began researching possibilities at home, online, and I kept coming back to one disease over and over again: Niemann-Pick Type C. I asked every doctor we saw – could it be NPC? No one thought it was highly likely.

On February 28, 2017 we got the call with the results of the DNA whole exome sequencing and time stood still. Marian has NPC. And it’s fatal. After the call we were in shock and brokenhearted. We began blindly reaching out to other NPC families and quickly learned, this is NOT a death sentence and there IS hope to save Marian’s life. We heard the same thing on every call: get Marian on a highly effective clinical trial drug cyclodextrin as soon as possible. Every day counts.

Today you would never know looking at Marian that she is harboring a progressive fatal disease that would take her life and slowly but surely cause her to deteriorate without intervention. As our lives are filled with physical therapists, occupational therapists, neurologists, geneticists, hematologists and more – Marian is overall thriving, happy and filled with love. She crawls and cruises, she walks on the treadmill in a harness at her PTs. She says about twenty words including “tank you” and “mama” and “wow!” Five to ten years ago this diagnosis would have been certain death. But today it is definite hope and the possibility that she could be one of the first to “survive” NPC without major impact. The future is filled with fear but also hope. There are many unknowns and fears, is today going to be the day that she begins to plateau and then decline? We are anxious to get her started on cyclodextrin via compassionate use. For others on similar journeys, all I can offer is what I tried to push myself towards – tune out the outside noise, focus on the needs of Marian and forcing myself to accept the reality – and then make a plan to fight it.

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