One update I forgot to share in the last post... Silas' local GI ran a diagnostic panel for Inflammatory Bowel Disease. (It's not 100% but fairly reliable.) Silas' bloodwork was not consistent with IBD.
In my last post, I mentioned that this week is Mito Awareness Week. Inspired by this blog, here is my list:
1. The mitochondrial disease our children are affected by is: Autumn has a Complex I dysfunction.
2. Our children were diagnosed with it in the year: Her original muscle biopsy in May of 2008 showed low activity for Complex I. (It took nearly a year to get the results.) Since the first biopsy was frozen, the neurologist had us do a second (fresh) muscle biopsy (in August of 2010) to confirm.
3. But they have had symptoms since: Autumn had signs of gross motor delay since we first met her at 9 months. Other symptoms took a little longer to notice.
4. The biggest adjustment our family has had to make is: Going to countless doctor visits and therapies in addition to the numerous procedures she’s been through. I think she’s been put to sleep 8 times already. When she was younger and in Early Intervention, we had 3-4 appointments or therapies each week for several years.
5. The mito gene our family has is: Since Autumn is adopted, it is even more difficult for them to find the genetic mutation. They have checked for the most common ones and have not found it thus far.
6. I explain mitochondrial disease to others that inquire by: I say the doctors always describe mitochondria as the “powerhouse of the cell.” They are involved in just about everything your body does.
7. Most people assume: That she’s okay because she doesn’t look sick or that she’s better because she doesn’t have to use her walker any more.
8. The hardest part about mornings are: Getting her to eat breakfast!
9. The hardest part about nights are: We use to have problems getting her to settle down at night (or waking up screaming in the middle of the night). But, that’s going well right now.
10. Each day our children take: Autumn takes five different medicines or supplements daily. She takes a total of 13 different tablets/doses. The medications are taken throughout the day during four different time slots.
11. Regarding alternative treatments we: She sometimes sees a chiropractor. He’s helped with general congestion (ears and chronic cough) as well as potty training.
12. A mito-related organization I support is: Just starting to learn about all of the groups.
13. Mitochondrial disease affects our children’s education by: Autumn has an IEP and receives speech and physical therapy services at school.
14. People would be surprised to know: How much effort it takes to keep her regulated and how much work it has taken to get her to where she is today. People would also be surprised by how loud she is at home – she’s so quiet everywhere else.
15. The hardest thing to accept about mitochondrial disease has been: The unknown. Any illness can trigger an irreversible progression of the disease.
16. Something we were never sure our children could do with their illness that they did was: Walk a mile! Autumn was signed up for the Mercedes Kids’ Marathon last spring, but she ended up in the hospital with complications from the flu. She did, however, get to participate in a “Miles for Missions” walk organized by our church. We weren’t the fastest two out there, but we made it to the finish line. She really slowed down about halfway through, but she never complained.
17. The awareness about mito: Is very hard to find. The information about each form is very limited.
18. Something we really miss doing since affected by mito is: Since both kids have so many food intolerances/digestive issues, I miss fixing one dinner that the entire family can eat. I miss the days I could leave the house and not worry about having enough food to keep everyone fed while we’re gone.
19. It was really hard to have to give up: We knew Autumn had health concerns when she moved in with us. I’m not sure we every “gave up” anything.
20. A new hobby they have taken up: Autumn has really enjoyed learning to read. She is also very crafty and loves to create things.
21. If they could have one day of feeling normal again they would: Autumn has a lot of food intolerances. My guess is that she would want to eat junk food all day. J
22. Mito has taught us: To appreciate every small victory and treasure the good days.
23. Want to know a secret? One thing people say that gets under my skin is: Autumn has a lot of food intolerances, but she’s also very picky (a lot of it related to her sensory processing issues). I tried to talk with the neurologist about the problems I’m having with Autumn suddenly deciding not to eat certain foods any more. She said, “Well, just don’t let her.” I’d like to see her try it. I’ve learned that there are certain things that you can’t make a child do. Eating is one of them.
24. But I love it when people: Comment on her positive attributes – her great smile, her resourcefulness and determination.
25. My favorite motto, scripture, quote that gets me through tough times is: Psalm 73:26, “My flesh and my heart may fail, but God is the strength of my heart and my portion forever.” There are many more…
26. When someone is diagnosed I’d like to tell them: We’ll try to figure it out together.
27. Something that has surprised me about life with mito is: All the wonderful people we’ve met along the way.
28. The nicest thing someone did for us was: Magic Moments granting Autumn a wish – a trip to Disney World!
29. I’m involved with Mitochondrial Disease Week because: I hope to help someone else find their way through this maze. I also want to help educate those who know someone with mito.
30. The fact that you read this list makes us feel: Grateful. If you made it all the way to #30, I appreciate your support!
Janel
