Andrew is our 14 year old son. He has a Complex IV Mitochondrial disease. While there is no treatment or cure, he does much better than Dr's predicted for this age. This page is about the ups and downs of life with a child with a complex IV mitochondrial disease - and the daily struggles and joys that go along with it. Thanks for visiting!
Andrew is our 14 year old son. Although he'd always had some "quirky" health issues, he spent his first 8 years as a healthy child. I thank God that we didn't know then what we know now! We began to notice some changes in Andrew during the winter of 2006-2007, such as him being more forgetful and confused, experiencing horrible headaches, eye tics, and he just seemed to be "sickly". The Dr. ran some tests and told us Andrew was having absence seizures and migraine variant headaches. We were sent on to a pediatric neurologist, who ran all sorts of tests. Lab work sent to Mayo showed a carnitine deficiency. The Dr. explained that this is usually asymptomatic and found on an autopsy!!! Relieved, we immediately started Andrew on the carnitine supplements and assumed he'd get better.
Little did we know that our journey was only beginning. Andrew continued to go downhill and the visits to specialists continued. Andrew was diagnosed with encephalopathy, fatigue, temperature regulation issues, and cognitive regression. By this time, things were being ruled out and we were told this could be a nasty viral infection settled in his brain that takes a year to clear up, or it could possibly be a mitochondrial disease. In an attempt to delay the cognitive regression, the neurologist put Andrew on an Alzheimer's drug.
After finally exhausting all of our resources in the state, we were referred to the Children's Neuromuscular Research Clinic in Ohio. (since this time Riley now has a mito clinic!!) Dr's there agreed with all of the previous Dr's and ordered a muscle biopsy. Although we kind of knew what we were going to hear, it still was hard to learn that Andrew does, in fact, have a mitochondrial disease, along with a secondary carnitine deficiency. The Dr. said it will progress and although it will affect him head to toe, she said he may eventually forget how to button a shirt and could lose memory, hearing, vision, and speech. Please God, don't let it be!
The muscle tissues were sent on to Baylor University for further study. We then also made a trip to see a specialist in Dallas, TX, which gave us more pieces of this medical puzzle. The final diagnosis came in March 2008, a full 13 months into our journey - Andrew has a complex IV mitochondrial disease, with the secondary carnitine deficiency. Basically what we were told in September 2007 was correct, only now we have the fancy name for the specific genetic defect. At this time, there is no treatment, no cure, and not really much research. However, that could change in the future. For now, we treat his symptoms and pray for a slow progression and quick research!! Since his is maternally passed, there's also a chance our younger son Isaac could one day show symptoms. We are praying for dormancy in his cells and that he could lead a full and healthy life.
We've seen progression in Andrew's GI tract and he has a MACE (ostomy), and even that has failed, so they put in a mickey button which has helped. While we initially took the need for the osotomy pretty hard, our geneticist put things into perspective for us. He said he was surprised Andrew's legs are still strong and thought he'd lose use of them before he lost his GI muscles. So, we decided at this point, his stomach is at least repairable. There is a lot of internal pressure in his stomach, though, and no gurantees the mickey will do what we want it to, but like with everything else, we'll just take it one day at a time. Andrew's cardiologist follows his murmur and a mild leak in his aorta. We were told in the spring of 2012 that his heart had turned sideways. Since the heart is a muscle, the Dr wasn't completely surprised. Right now we just watch and pray for no further progression in his heart. His bladder has had some progression, as well. In 2013 our newest issue seems to be with swallowing. Andrew has a dysphasia diagnosis and we have referrals to a couple new specialists to try to help him. I am hoping there is an easy fix for now because this boy loves to eat!! :)
We have been very blessed by the outpouring of love from our family, friends, and community. We are just making the most of every good day we have and praying for a miracle!
Check the "links" section for more information about mitochondrial disease. Be sure to sign our guestbook and God Bless!
"Life isn't about waiting for the storm to pass...It's about learning to dance in the rain." (unknown)
Sep 20, 2013 3:26pmAndrew has had some very good days. He is a freshman now and enjoying his classes. He especially loves show choir, Ag, and chem phys. He is also taking PE, so some days he is pretty wiped out after school. However, his grades and attendance are both good.
We followed up with GI earlier this month on the ongoing dysphagia (swallowing) issues. Andrew does have a compressed subclavian artery pushing behind his esophagus, which should be in front instead. That is one issue, but Dr M thinks the bigger issues are his erosive reflux espohagitis and the stability. Or geneticist was gung ho on putting in a feeding tube now for hydration and future meds and feeds. GI thinks it's worth considering, but is in no rush, thankfully. For now, he is to continue small bits and drinks with bites. His meds (except meal meds) are given in pudding for more viscosity to be sure they get all the way down. This will also prevent adding more scar tissue to his poor esophagus. Andrew is fine with all of it and just says things feel stuck. The only thing his swallow study revealed was ultra thin liquids not going down, but rather stalling and reabsorbing. No thickened liquids, thankfully. He's pretty enthusiastic about pudding with meds, at least.
Our Drew's Crew team held a car wash and bake sale Labor Day weekend and did well. It was the first fundraiser the UMDF knew of for the 2014 energy for life (mito) walk season. We are thankful to Bicknell Superwash for hosting us, Joni Price for coordinating it, and all who helped out and donated. We were blessed to have the Sterchi family (Brady's Bunch) join us, as well!
This week is mito awareness week and for us, awareness = hope for a cure. I'm thinking next year we need to have a wear green for mito day and get a pic with a sea of green! :-)
Andrew had been having a few really bad days. Very lethargic, achy from head to toe, and just feels rotten. Took him to Dr yesterday because he started to complain about dizziness and that scared me with the recurrent tachycardia. Who knew that with a temp of 95.6 and no ear pain whatsoever, you could have a middle ear infection?? Hoping the antibiotics kick in and help him bounce back quickly. He's missed some homecoming events at school and was supposed to sing at church on Sunday.
While at the Dr, our nurse/friend read me the list of Andrew's diagnoses since they now use digital charting. Figured I'd list them here as part of the "record" I am keeping of our journey:
Complex 4 mitochondrial disease
Heart murmur (and sideways heart)
Circadian sleep rhythm disruption
Heptomegaly (hx of enlarged liver)
MACE with Mickey button
Temp regulation issues
Think that covers it all, yet he continues to look so good and fight hard. He is looking forward to turning 15 in a couple weeks. We are blessed that he is fairly healthy and active at this point!
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