While I originally wrote this in 2009, so much stays the same. I have updated/clarified where needed to bring this to where we are in 2011. This list of questions was passed around on Facebook that year for Mito Awareness Week, so feel free to use these questions to share with your friends and family too.
Monday, September 21, 2009 at 1:56pm
In honor of Mitochondrial Disease Awareness Week, here is our list......
1. The mitochondrial disease our children are affected by is: Mitochondrial Encephalomyopathy, Complex I & IV (mtDNA)
2. Our children were diagnosed with it in the year: Chance & Madison have had a “Presumed” diagnosis since April 2001 (age 7 & 4 ½ respectively). Abby gained the same “Presumed” dx in 2003 (age 4 ½), but we only found our genetic confirmation in April 2008. So, at confirmed diagnoses, Chance was 15 yrs old, Madison was 12, & Abby would have been 11. It’s not unusual for it to take years to find a diagnosis….and realistically, most never do find out their genetic mutations like we did.
3. But they have had symptoms since: Madison has been affected since birth (really in the womb), while Chance & Abby did not really start to show symptoms till they were about 3 years old.
4. The biggest adjustment our family has had to make is: I guess it’s the constant need to adjust to our “new normal” because the kids’ baseline changes so regularly, as do their needs. It is also, no doubt, coming to terms with a devastating disease with no cure and little treatment.
5. The mito gene our family has is: The kids have both mtDNA 4216 and 9438 (both associated with a type of Mito called Leber’s Hereditary Optic Neuropathy) and additionally a suspicion that they all three also have a nuclear gene mutation/s that are causing replication errors in the mtDNA which would explain the very high number of polymorphisms the children have.
6. I explain mitochondrial disease to others that inquire by: Sharing that all our cells, except red blood cells, have mitochondria in them. It is in the mitochondria that what we eat and the air we breathe is converted into a chemical that the cells can use as energy. When there is a mitochondrial disease, this process is disrupted and not enough energy is able to be produced to allow for most body systems to function properly. Any stress on their systems has the potential to cause devastating results.
7. Most people assume: Our children are normal and healthy because “they look so good”. We are, and always will be, incredibly grateful that we have been able to keep them looking so good, but live daily with the knowledge that internally so little works the right way. It’s impossible to explain that they “look so good” because we have worked so hard to keep them as stable as possible.
8. The hardest part about mornings are: Getting up and getting moving. The kids minimally need 12 hours of sleep, and sometimes (like now) are averaging closer to 14. It just feels like we lose our mornings sometimes!!
9. The hardest part about nights are: On those nights when the kids have a hard time getting to sleep…not because they are not exhausted, but because their bodies hurt or their brains won’t settle.
10. Each day our children take: 98 doses of medication/ supplements….This year to date they have had 83 medical appointments with 23 specialists, 138 therapeutic appointments, 29 tests, 4 ER visits, 2 surgery’s, 10 days inpatient, and 4 anesthesia’s.
UPDATE I don’t have it in me to figure all these numbers for now, just know that it’s more than then. In addition to medications, all three are now on oxygen.
11. Regarding alternative treatments we: have been able to see a chiropractor for several years, the kids do therapeutic horse back riding, and Chance & Madison receive massage therapy weekly.
UPDATE While we are not seeing the chiropractor these days, we have added aquatic therapy, acupuncture, bio-feedback, visual imagery, self hypnosis & counseling to our arsenal.
12. A mito-related organization I support is: Mito-Action and the United Mitochondrial Disease Foundation
13. Mitochondrial disease affects our children’s education by: They are unable to attend school and we have been home schooling for 7+ years now.
UPDATE This is one of the harder updates to give….while Chance is doing exceedingly well now, Mito impacted his early education hugely and we are still playing catch up…grateful we CAN play catch up, but it’s still hard. My sweet Madison is struggling and has been for 2 ½ years academically due to the profound fatigue and recurrent illness she has been dealing with due to her mito.
14. People would be surprised to know: That most dealing with chronic illness will tell you that it is not the illness that wears them down, but all the peripheral needs that go with it. Hours are spent on the telephone arranging things & correcting errors, calling in and picking up medications, dealing with insurance & collection companies, getting appointments made and having appropriate records sent, and just waiting for doctor’s offices to call us back.
15. The hardest thing to accept about mitochondrial disease has been: The uncertainty that comes with every day. The blessing is that we don’t take a single day for granted with our precious children.
16. Something we were never sure our children could do with their illness that they did was: Summer Camp this summer!!!! Had the time of their lives and it was truly an amazing blessing!!
UPDATE Thanks to so many precious people in our lives, the kids have continued to be able to attend summer camp, with this last August being their third year. Chance has been an assistant counselor for two years now, and all three grow so much each year they are able to attend. Camp Korey has been a life changer for all three!!
17. The awareness about mito: Is incredibly lacking, even within the medical community. Efforts are being made, and compared with awareness 8 years ago when the kids were initially diagnosed, it has improved tremendously…but we have such a long way to go.
UPDATE While awareness continues to improve, the process is painfully slow. The reality is awareness is the key to finding treatments, and we need those so desperately.
18. Something we really miss doing since affected by mito is: So many of those typical things we as parents dream about doing with our children as they get older. Chance not being able to drive this year was harder than we realized it would be, but we are still hopeful!!
UPDATE While Chance is still not driving, we have all adjusted to that normal pretty well. I think at this point, I most miss some kind of predictability to life, and being able to be and do something other than medical.
19. It was really hard to have to give up: Getting outside during the summer months when it is too hot….although, it’s definitely harder on us grown ups than the kids, I suspect because it’s all they have really ever known.
UPDATE After this summer from heck we have had, this continues to be one of the hardest things we face. And while it was once an issue for the “grown ups”, the kids are there now too. We long for our days in Seattle for Camp Korey because we know we can be outside as much as we want.
20. A new hobby they have taken up: READING!! All three are loving it and let’s face it, what an incredible escape!!
21. If they could have one day of feeling normal again they would: I suspect they’d want to attend school, even if for just a day.
22. Mito has taught us: First and foremost that life is short and no day should be taken for granted. It’s taught us grown ups patience and fortitude, and I suspect it’s taught the kids about compensation…..whether finding ways to do things their bodies won’t allow, or finding ways to interact with others when it’s been a challenge, or some days, just finding a way to get through when they feel like crud.
23. Want to know a secret? One thing people say that gets under my skin is: “But they look so good!” and as of late, “We never see kids with mito your kids ages.”
UPDATE At some point I was able to take this first one off the list of annoying things people say….I now just respond with a thank you for recognizing all our hard work!!
24. But I love it when people: See beyond the kids issues and see how incredible their soul’s are.
25. My favorite motto, scripture, quote that gets me through tough times is: “Life is not about the breaths we take, but the moments that take our breath away.”
26. When someone is diagnosed I’d like to tell them: To take a deep breath and then learn all you can. While in the diagnosis stage I think I thought, if only we could get a diagnosis, things will calm down…..realistically, you continue on a journey you never expected, just on a different road than you started on. You will come to a place of peace with it…because you have to for your children’s sake…but it is never something you can ever fully accept and be okay with. And finally, you will, if you look for them, realize that there are an amazing number of blessings that come with knowing your child has mito.
27. Something that has surprised me about life with mito is: How complicated…and at the same time, beautiful….life can be.
28. The nicest thing someone did for us was: Supporting our efforts to get the kids to camp this summer. We will never be able to thank those that contributed enough for this incredible gift.
29. I’m involved with Mitochondrial Disease Week because: I realize how difficult it is to really understand what our family deals with daily, and hope that somehow getting the word out will make a difference, if not in my children’s lifetime, in the children coming up behind them.
30. The fact that you read this list makes us feel: loved and cared about!! THANK YOU!!