When Josh was 6 months old we started noticing symptoms that seemed off, only to be told it was nothing and not to worry about them. By 15 months issues had become more pronounced and the journey of seeking specialists opinions began. The next two years marked a frustrating phase of Josh having these terrible episodes that grew more severe every time. Some days he seemed completely normal, you would never know anything was wrong. This made for frustrating doctors trips because they would evaluate him and tell us how 'normal' he was, and that there was no such thing as being able to walk one day and not the next. We had doctors look at us like we were crazy, some even told us as much. And then there were the moments, the days where Josh's back would spasm so badly he couldn't move, or he had weakness of one side that looked like a stoke. Some days he had beautiful words and communication, the next he couldn't speak, and worse, had such poor processing he couldn't communicate at all.
Our days became marked by therapies, IEP meeting, and doctors appointments. Our house slowly began to fill with medical equipment and assistive devices. Soon we started having full time nursing in our lives, to ensure Josh had the care and support of the increasingly more frequent episodes. Just weeks after his 3rd birthday Josh had his most severe episode of dystonia that lead to full body paralysis and altered breathing. Several flight for life rides and hospital transfers later we found ourselves next to our unconscious, intubated little boy unsure what was causing this, and unsure if and when he would wake up. When Josh finally did wake up he had lost almost all his skills, his speech was gone, he couldn't walk, he wants potty trained anymore, he couldn't even eat and swallow anymore. Months of therapy followed to regain these skills, and slowly we started making achievements. These achievements were hard earned, only to be lost again every few months when another huge crisis happened again.
Every time a crisis happened I would find myself with an unconscious child in my arms, breathing only a few times a minute and heart rates in the 30s, standing in an emergency trauma room with a team of doctors asking me what Josh's diagnosis was. And I never had an answer...
I don't know if words could ever express the helpless feeling of watching your child progressively worsen, lose skills and go through these horrific episodes and I couldn't even tell the doctors what was wrong. Last summer the episode were so frequent and he would lose significant skills following each one. Medical issues that used to resolve outside of episodes now lingered and our list of specialists grew to almost 2 dozen. It became apparent that we needed an answer, we needed to figure out what was happening to our sweet boy if we wanted a chance at saving his life.
The hardest part was hoping for answers and having some of the most brilliant medical professionals in the country just baffled. Then this summer, while in the hospital for another crisis, I was sitting next to my unconscious child and had a long discussion with our amazing neurology doctor of several years. He said he had been doing some research and looking into a disease called Alternating Hemiplegia of Childhood (AHC). I took to social media and found a group of people with children or loved ones who had AHC. And then things sort of started falling into place for the first time. Through a process totally unplanned we ended up getting in with one of the topic specialists and researchers in the field of AHC. This week we traveled to North Carolina and met with this doctor. And for the first time we found ourselves being told that our child make complete sense, that every single symptom, episode and crisis were 'classic' systems. Words cannot do justice to what is was life after 6 years of searching to have an answer. It was overwhelming, and emotional and at the same time life a weight lifted. I remember a couple years ago having one of our specialists tell us that many parents think that finding the answers or diagnosis will make things better and that in the end it ends up not mattering. I think her point was valid, the answer doesn't change our reality, the answer doesn't 'fix' Josh or make the road ahead of us even one bit simpler. Josh will continue to have these episodes, our lives will be marked by this disease, and even with an answer it won't help to explain anything to ER or hospitals because it is so rare and not commonly understood. That being said, there is an odd peace to knowing. There is a comfort in having community now and knowing others that are walking the same road we are on. There is comfort in knowing that we aren't crazy and there is something that explains all Josh goes through.
We have a long road ahead of us, we have a very rare, and for right now, incurable disease. But we know what we are dealing with and for today that is huge for us. And as we are flying 35,000 feet back home, and I sit here reflecting on this journey I can't believe we are here. There was a time I thought we would never know. There was a time and moments we didn't know if Josh would make it or pull through. But here we are, still fighting. I have said it before but it couldn't be more true that through the heartache, frustration, unknowns and struggles I am truly blessed and honored to be on this journey with the strongest and most courageous child I know, my AHC champion, Josh.
