So, a month ago my heart was ripped out of my chest, shredded, stomped on, shredded again and then shoved back up in me. During the past few weeks I have been trying to mend a very broken heart. Success comes and goes, but overall, doing ok. Neil is about the same though probably wouldn't use some of my descriptors :-)
During the appointment when Dr. Koenig (Mito specialist) told us Will had Leigh's Syndrome, our bodies kind of took over and there really wasn't any thought process for questions or next steps, other than get Will started on CoQ10 and Levocarnatine - supplements, no cure.
So, today, we had a follow up appointment where we could ask all the questions we've been dwelling on for the past few weeks. I have probably had an unhealthy obsession with understanding how he will, one day, die. Ew. Just seeing it on the screen makes my stomach turn.
The appointment was very productive and we cleared up a lot of details about the disease. I apologize in advance for the long posting, but this is much easier than 50 phone calls!
I also apologize, I'm going to back track for a minute so you understand how we've gotten here. We've gone through a series of tests during the past year, both physical and blood to this diagnosis. The MRI results (abnormal lesions on the brain) and subsequent genetic blood testing resulting in a 100% certain diagnosis of Leigh's. Here's what we know.
-People are born with good mito and bad mito. It's something that we all have and is passed to us from our parents. Will's mito level is 132 percent. That's actually quite normal, some people have more or less. Of all his mito,Will has 98 percent bad mito. So we're counting on the other 2 percent to overcome the bad ones for as long as they can.
-Will's specific disease is the mtDNA Leigh's Syndrome. Which means, the egg that created Will had too many bad mito in it and had a genetic mutation. Obviously, this is a hard pill to swallow - my egg was bad and as a result, Will is never going to experience life as we wanted. As our (mental health) therapist told me, I am a victim, just like Will. There was absolutely NO WAY to have predicted or stopped this from happening. Victim. Any other biological children I produce with my eggs are highly likely to have a mito disorder. That's an entire other blog post :-)
Now on to some positive news...
-Dr. Koenig is in no way shape or form someone that sugar coats anything. So when she told us that Will appears to have a mild case, I nearly cried for joy.
-Apparently, Leigh's Syndrome is one of the most well documented and studied syndromes in the Mito world. Theoretically, more research and more medical advances are targeted towards finding a suppressant or cure for Leigh's. Hence, why this Stanford EPI-743 trial was started. Will is the ideal candidate for this program. Even the way it was passed to him theoretically should help Will see a more positive impact from the drug.
-I have mentioned these abnormal spots on his brain - this is the crucial piece of how this disease works. Let me explain. Imagine an electrical wire. There is a tubing that surrounds all the various live wires inside. Leigh's Disease basically makes that tubing around the wires decompose - it's called Demyelination. Over time, the brain tissue that was being protected by the tube will die. That's called Necrosis. Eventually, the brain tissue that connects to your brain stem and spinal cord will die and so on. So, still waiting for the good part? The four abnormal spots on Will's brain show NO SIGN of death. The tissue is very much alive and we are hopeful that the Stanford EPI-743 drug trial will help keep that tissue alive and healthy. *I totally borrowed the electrical tube analogy from Dr. Koenig :-)
-As I mentioned in a previous post, demylenation seems to have a high rate of occurrence when your body is attacked by a viral infection. So, during a high fever, vomiting etc. getting Will hooked up on fluids actually can help reduce the degree of damage or eliminate it all together. Hence, the necessity of getting Will to the ER fast.
Ok, back to some bad news. I have probably had an unhealthy obsession with how this will progress and what Will may die of and how. Ew. Preface ALL of the below statements with mito affects everyone differently, so there are no absolutes with the future.
-There are two likely paths which Will might take. 1 - a slow long progression of setbacks. For example, during a period of a year, he could go from walking to not being able to roll over. Or 2 - he could wake up any day and have lost the ability to walk or talk etc. It wouldn't be a slow progression, but rather, a "on/off" difference that will be extremely noticeable. Dr. Koenig can't predict the future, but from what she sees right now, Path 2 is more likely. I like that one better. I pray for those on either path, because they both end in the same nasty way.
-Ataxia is highly likely a side effect we will see Will experience. The nut of it comes down to balance problems. Insert wheelchair.
-I asked what do most children die from, her response was respiratory failure or liver failure. He would not qualify for a liver transfer.
-When is this going to happen? No crystal ball, no prediction. She said we've got a lot going for us right now in that Will continues to make progress and that we have been proactive for the past year in getting him in therapy etc. It could be six months, six years or 16 years. You just don't know.
-She told us about the most recent patient they lost. A 12 year old girl with Leigh's who lived a happy and full life. There was nothing cognitively wrong with her, she talked, walked, ate and had friends. She was in the hospital for six weeks and before she fell asleep for the night, she said, "Bye. I love you mom" and passed away in her sleep, very peacefully. As peaceful as that can be.
So what now?
-Keep doing therapy
-Stay healthy and germ free
-We're going to do an Eco-cardiogram to check Will's heart. There's no indication there is anything wrong, but of all the things we've done testing on, this (shockingly) isn't one of them.
-Meet with a gastro-intestinal specialist to help with BMs and check his digestive systems.
-Meet with an immunologist as it relates to keeping Will healthy
-Go back in 2 months for a follow up visit with Dr. Koenig
Neil and I both agreed that we were dreading today. I didn't want to go through everything again etc. We left the doctor's office with a significantly more positive outlook. Plus, we got a lot of questions answered which help us understand what's going on.
If you have any questions about this please don't hesitate to ask, comment or email me. I am still working to understand all of it myself!
I've just sat here for five minutes trying to think of a more positive way to end this post and I really can't right now so I'll just leave you with a picture that makes me smile.