In case some of you didn’t know, my mom keeps a blog. Her updates are a cross between a newsletter and a journal. She will write about my brother William’s current state of health as well as how she deals with it. She often updates the most when they travel to Ohio or if Will has to be admitted to MCV, since that is when she has the most “free time”. (If anyone is interested, the link is mrscmusings.blogspot.com)
As many of you also know, William was diagnosed with Mitochondria Disease a few years ago. That diagnosis has changed my family’s life dramatically. William and my mom usually travel once a month (sometimes more, sometimes less) to Ohio for doctor appointments. The financial and emotional cost of these travels continues to erode at my family’s finances and peace. Many times, I am fearful for the emotional health of Mom and William especially. How does a 14 year old process and cope with being in a neck brace for a year? What about the knowledge that you might not get any better?
A few months ago, Caroline started showing the same signs William had 5 years ago. Mom made an appointment for her and William earlier this week. When I talked to her yesterday, I knew something was wrong. Usually she sounds tired or weary on the phone. Instead, she sounded… Sad. When I got home last night, I read her most recent post and realized why.
Here is an excerpt from Mom’s blog that sums it up:
The most difficult piece of news was that Caroline’s lower extremity reflexes are lightning fast while her upper extremity reflexes are normal. While I expected the mito diagnosis, I was totally blindsided by the ordering of the MRI to diagnose a likely brain stem compression.
Regarding Caroline, I knew the Ehlers-Danlos existed, suspected the GI issues, and was certain of the mito. But I figured that we would wait and pray that there was no Chiari issue. No Chiari issue meant no brain stem issue and hopefully a much slower progression of the disease process. The news that Dr. T expects there to be a basilar invagination totally shocked me. If indeed this is true, then Caroline will be headed for the same surgeries as Will has had and may/may not have a similar progression.
After reading this, I broke down into tears for a solid 10 minutes. I continued having little crying storms the rest of the night and into today. It is hard enough to watch one sibling suffer as much as William. It is another thing altogether when you have to watch it a second time to my beloved baby sister. Don’t get me wrong: I love all my siblings! But Caroline was my answer to prayer. I waited and prayed with every one of Mom’s pregnancies. She and I were so close; she was my baby girl, my “Isaac”. Now, I will have to watch her suffer as well.
Also, Mito is passed through the maternal line. The doctors initially thought it was just William’s DNA that “mutated” into Mito. Now that there is a second child with this issue, they will have to take another look. If it is indeed hereditary by nuclear DNA instead of mitochondrial DNA, that means my children could very possibly have this disease. While David and I have always planned on having a large family, I have seen the damage this chronic disease has done to the relationships in my family – do I want to take that risk?
At this point, nothing is certain. Hopefully the MRI will give us some answers regarding Caroline. Only time will tell how William will progress. Until then, I can do nothing but wait. And pray.