A Partial Diagnosis for Caleb

I've been wanting/procrastinating on writing this post. I want to keep everyone in the loop but am struggling with how to put it all in words.

Caleb had his MRI a little over 3 weeks ago. I got a call from the neurologist the next week with the results. He said there were little parts of Caleb's brain that had died and this information coupled with some of the blood work confirmed that he has a Mitochondrial Disease. (Mito for short) The Dr had already contacted a specialist at Children's Medical Center and had an appointment set up for the next week if we could make it.

So this past Friday we went to see Dr. Pascual. The following is an email I sent out to some people later that night.

Well we had Caleb's appointment this morning. The Dr was amazing, one of the leading physicians in the country if not the world for Mitochodrial Disorders. He had done his homework and knew all about Caleb and his history without us telling him anything.


He diagnosed him with Leigh's Syndrome. (feel free to google it if you would like more info. The UMDF website is a good place to start) The Syndrome explains Caleb's issues over the last months, the eyes, feet, vomiting, weak muscle tone, low energy, not walking. The Mito is the cause of the syndrome. (different Mito diseases manifest in different ways) There are at least 20 Mito disorders that cause Leigh's, so the next step is Caleb will have a muscle biopsy in a few weeks and they will try and find the specific genetic mutation.


The disease is inherited so the Dr basically told us not to have any more kids and to take measures to be sure. (Allison is out of the water, she would have symptoms by now. Jordyn could have it, but we have to wait until she has symptoms to test her. We are not concerned at this point) anyway, I don't know that I was ready to be done having kids. (Jason was done but I figured if I give him a year or two he might change his mind) So while the thought had crossed my mind the finality of the Drs statement was hard to hear.


We really have to wait for the muscle biopsy results to know anything more. As a whole Mito diseases are not curable. It is considered a Rare Disease and there are still many unknowns. The method of "treatment" is HEAVY vitamins. He gave us 4 prescriptions for vitamins today (vitamin C, B-1, coQ10, and L-carnitine) but we can't start them until after the muscle biopsy. There is a chance they won't be able to find the specific mutation, IF they do, then they can tailor the vitamins more. Everything is a little overwhelming still.


He said it does shorten his life and at this point can't predict how it will continue to affect Caleb. (get better, stay the same, or get worse) Caleb had a really hard day today, didn't eat much, threw up, really low energy, so that made it really hard too. We are trying to work through the emotions still.


We trust God and believe He is big enough to heal our precious boy. And yet seeing him like he is hurts us. Anyway, prayers are welcomed.

Since Friday we have gone through lots of emotions and tried to begin to process what this means. Thankfully Caleb has had a MUCH better week and that has made it easier. To tell you the truth my days are too busy to think too much about it. Trying to figure out how to carry Caleb and Jordyn down the stairs at the same time keeps my hands full. (literally!) Jordyn has been a wonderful baby and sleeps most of the day and I'm so grateful!

We have been so blessed with friends and family who are praying and comforting us. I hope to be able to post a little more frequently, If not about updates then just a place to process through some things. Comments are always welcome and please feel free to add Caleb to any prayer lists or groups you have.