When You’re Still Searching for Your Child’s Primary Diagnosis


There are days when it’s hard to be in this community. For a long time I sat isolated and in fear of what was going to be or what could become. Would my son, Von, 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 3 months old when he had an adrenal crisis, doctors believed he had idiopathic panhypopituitarism, meaning 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 each month as he grew more behind and had 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 three years in to this and still have no idea why things weren’t working the way they should. I would weep silently at night to my husband wondering why it was so hard to pinpoint why this was happening. No specialist could clearly tell us why it was all happening.

They constantly whispered in my ears that 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 three 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 there may only be a few known cases if any in the world. I’m heartbroken and scared, thinking something bigger than singular system issues could be silently harming my child.

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 in the unknown. Tightly we hold on to our faith that even if we never get a primary diagnosis, 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 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 a 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 of in the near future.

Two photos of Katie's son Von. In the photo on the left, he's at an appointment. In the photo on the right, he is sitting and playing.
Two photos of Katie’s son Von. In the photo on the left, he’s at an appointment. In the photo on the right, he is sitting and playing.

A version of this post originally appeared on Without a Crystal Ball. Follow this journey on Von’s Super Hero Facebook page as well.


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