Welcome to our Fun House – pt.1

So it’s been about 6 months since you have heard from Daniel and the Kinchlea family–it’s high time for an update. First, I want to say our beautiful baby girl is growing so much and the love between her and Daniel is so special.

When I was growing up, my family and I lived near Niagara Falls and once in a while, my parents would take us for a fun day to Clifton Hill. My baby brother and sister will NEVER to this day let me live down the day we went into the Fun House. My parents got our tickets and we headed on through. It stared with a turning wheel room you had to climb through; then, a room of mirrors that distorted your figure; then, a room where the floor fizzled and smoked when you stepped on it; then, a dark room with one tiny light at the end of the hall, followed by a clown house room and more. I can’t tell you too many more details because when I got about half way through, I couldn’t take it anymore and I turned and ran! I ran back through the fun house, back through the rooms I had already taken. I was probably 8 or 9 at the time.

You’re probably wondering why I am reminiscing about this memory, and why a kid would run out of FUN house! I mean its supposed to be fun! It wasn’t the rooms themselves that scared me–it was the uncertainty; the fear of what the next room would be like. Would it be darker than the last? would it be harder? would it be more complicated? Some people love the thrill of the unknown: they love haunted houses and horror movies. For me, it’s not the blood and the guts of a horror flick that get me–it’s the suspense. The power of suspense can be quite horrifying. Of course a fun house can also be just that–fun! It has its moments where, despite the suspense, darkness, and the creepy clowns you’re not sure you are happy to see or terrified of, it can give us joy. Our family brings us joy and we are thankful for our kids despite what terrifying fun house they drag us through.

So that leads me to this part of our journey, and can hopefully paint you a picture of what Will and I are facing right now. Welcome to our fun house!

After a beautiful summer of hope and excitement, we are once again facing uncertainty. Daniel as you can remember has been officially diagnosed with an Autoinflammatory disorder of unknown origin. Meaning we know he has an autoinflammatory disorder, we just don’t know which one and or if anyone has ever seen this before.

In my last blog I mentioned that we were waiting to hear from Sick Kids Hospital regarding Daniel’s genetic testing of his fever genes. The doctors came back to us in December with some more information. They had sent his blood work to genetics and they had tested for “fever genes”–mutations that may be causing this illness. They found a mutation in a gene that matched a form of Autoinflammatory disorder known as TRAPS. They thought this might be the diagnosis we were looking for.  However, in the same conversation with the genetics team we all realized they had made a giant error and accidentally tested the wrong blood! They had gotten Daniel’s blood mixed up with Will’s. William Daniel Kinchlea looks pretty close to William Dennis Kinchlea, however names and birth dates, not the same! Turned out Daniel did not carry this mutation, Will did. The good news about this is that, Will has never had any signs or symptoms of this illness and about 20% of the population has the chance of carrying this mutation. So because Daniel’s genetics came back negative this was not the diagnosis we were looking for.

After correctly testing Daniel for fever genes, they found a gene mutation that is linked to a Autoinflammatory disorder called SAVI. SAVI is incredibly rare; doctors have seen about 8 cases of this illness in their time of researching it. Not all of Daniel’s symptoms fit this illness but they thought that maybe this might be the mutation linked to finding a diagnosis. The only remaining factor would be to test my genes and see if I could potentially carry this mutation. They figured it was highly unlikely do to the fact that all other cases they had seen were mutations that were caused at conception, and not passed down by a parent.

If Daniel’s mutation was new, he would be more likely to have SAVI. However, after testing my genes they found that I do in fact carry this mutation and have passed it along to Daniel! Because I obviously do not have this illness as well as the symptoms not quite matching Daniel’s symptoms, they have ruled this out as a potential diagnosis as well.

After having tested for all known fever genes, the only other option is to go on and do a full genome sequencing; this means taking all of Daniel’s genes and putting them under a microscope to see if we can find anything. There is about a 75% chance we may not learn anything, however having this information to refer back to as research progresses will be a huge benefit to understanding Daniel and his illness. This testing will take another five months and in the meantime we will continue to follow our protocol to protect Daniel by giving him his injection and following emergency procedures in place when he gets a rash or fever. If no mutations are found that link Daniel’s illness to a possible diagnosis our only other option at this time is to decide whether to relook at his symptoms by adjusting his medication and “seeing what happens.” Our doctors are fantastic and will not make any suggestions that will be detrimental to Daniel’s health, but the idea of playing around with his life-saving medication is a bit scary

So, this is why our life feels like a fun house. One room after another we are walking through the unknown, we are faced with a new diagnosis and then it changes, or they think they are close to finding an answer and then it doesn’t. All the while we wait and worry and pray Daniel stays healthy so that we don’t spend days upon days back in hospital, on steroids or worse.

Tomorrow I’ll follow up with part 2: living day by day with the unknown.

 

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