Without a Crystal Ball

Our Journey through Chronic Illness & Autism

There are days when it’s hard to be in this community. When I wish with all my heart, I could be engaged and engulfed by things other than therapy schedules, medical charts, nursing charts, and insurance paperwork. For a long time I sat isolated and in fear of what was going to be or what could become. There were moments that it was so hard to breathe even thinking about what life would look like for my son. Would he ever be able to speak, write, or read? Would he be able to socially engage and play? As he grew would he be able to live on his own? Or was he destined for a life with my husband and me? It was overwhelming and exhausting to be constantly sucked in to the fear of the unknown.
Von has no primary diagnosis right now. At age three months when he had an adrenal crisis, doctors believed he had idiopathic Panhypopituitarism. Meaning that his pituitary gland never formed and there would likely be no known reason for why it happened. They expected there to be issues as he grew, but the avalanche of diagnosis never seemed to be over. Each month as he grew more and more behind, had more and more symptoms and issues it was clear to us this was more than an idiopathic disease that was isolated to one part of his body.
Specialists were added as quickly as we could get a new one on the team. Each new set of eyes brought in more opinions, thoughts and ideas about what could be causing all of his troubles. Was it because of his neonatal period when he nearly died that caused it? No, because soon things in the body weren’t developing correctly. HIs brain wasn’t growing the way it was suppose to. He developed Chiari Malformation, and slowly over time his ventricles expanded in his brain to a point where they were discussing a shunt. As we went through the seas of doctors, and looked through the windows as we drove the miles to the appointments, tears would stream down my face. I never, ever thought we’d be 3 years in to this and still have no idea why things weren’t working the way we should. I would weep silently at night to my husband wondering why it was so hard to pinpoint why this was happening. Every specialist from ENT, pulmonology, GI, hematology, neurology, neuron-surgery, orthopedic surgeons, endocrinology, cardiology, and developmental pediatrics could not clearly tell us why it was all happening.
They constantly whispered in my ears we needed to go see genetics. I knew it was a necessity, but the idea that my genes or something I’ve passed to him has done this to him, made my stomach turn in knots. I’ve made the appointments 3 times and cancelled. He’s had a fish test showing all his chromosomes being there, so it’s likely not from a chromosome deletion or addition. Doctors are now discussing a genetic mutation. Potentially something so rare, that there may only be a few known cases if any in the world. I’m heart broken and scared, thinking that something bigger than singular system issues could silently harming my child. That the genetic make up of him is so broken he will never function typically. These are all fears I need to get over, but I find myself in puddles of tears weekly trying to muster the strength to get answers for him.
We’ve turned to God. We are praying and asking him for answers. We are turning to our bibles looking and searching for verses to give us strength of the unknown. Tightly we hold on to our Faith that even if we never get a primary diagnosis that our Lord will take care of our son. Months turned in to a year, and his doctors have said we can no longer put this off. We need to explore genetically what is going on. I’m praying daily for an answer, and with answers we will have clarity regarding what his future will look like. I’m praying if it is something very rare we can be an example for future families on what they can expect with this unknown disease. We know we can no longer avoid genetics. We will finally take the plunge in a month. We will meet with the director of Genetics at the large Children’s Hospital. We will go over his entire history and begin testing. We pray for a miracle and hope they have an answer. We wish for a cure, but know that likely nothing will ever cure our son.
As we walk this path of unknown, we hold tight to the support we have received along the way, and we hope those of you struggling to find a diagnosis don’t lose hope. We are still hopeful to find a name for what is making our son so sick and have so many neurological issues. We pray for clarity for you and for ourselves. The path to diagnosis is exhausting, and it is one I would love to get off in the near future.


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