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)
Busy couple of weeks...
Feb 28, 2014 9:27amAndrew stayed out with a sore throat last Sunday. That always throws him for a loop. Took him to see the Dr Mon when he was feeling worse. I needed him to get well, knowing he had outpatient surgery coming up at Riley. Viral infection, negative strep, negative flu. Thought he would get better, but I thought wrong. He went back to school Tues, but I got a call from the nurse that he was in tachycardia, having chest pain, and was wheezing. Those were some scary moments, but his heart rate did eventually regulate. Lots of conversations with many drs and great nurses that day, and a scared mom and dad. By Weds, he was achy and still not feeling well. He was drinking, but no appetite. Back to the Dr, only to find out he was dehydrated. We were sent to the hospital for fluids. That's what we call going in for a "tune-up". Thurs he was better and resting at home. This was the day we had to stop his Reglan, Erythromycin, Prilosec, and Zantac in preparation for his GI procedures at Riley 2/27. I thought he was doing better and would surely be at school by Fri. Instead, belly pain got worse as the day went on. By supper, he didn't want to eat. After dinner, he got sick and it continued about every 10 min. With mito, we usually do an iv if he vomits once so I knew where we were headed. It was stormy and he was in bad shape. We were texting the peds dr, so he had the ER ready for Andrew. Took forever to get there between the wind and stopping so he could be sick. He must've looked pretty bad because they met him with a wheelchair and the nurse said, " Here, sit down, do you feel pale?" A week later we are still laughing at that one. :) There was talk of a transfer to Riley due to acidosis. However, once the fluids and some liquid zofran got going, Andrew stabilized and started perking up some. He stayed this time Thurs through Saturday and felt good enough to get home and away from potential germs. Friday was a little complicated, though, because I had to take Court to Union Hospital, an hour away, for his hand surgery. Helen came and sat with Andrew, and Bob even went to our house to meet the dryer repair man. It all worked out.
Once home, Andrew started to feel better by Tues or Weds, other than his swallowing getting tougher and tougher. Riley wanted to proceed with surgery plans since he'd already been off the meds that they required. Early yesterday, Andrew went under general anesthesia, which is very risky for mito kids. The GI team did a scope and explored from esophagus to intestines. Biopsies were taken from esophagus, stomach, and small intestine. He was supposed to have a camera stapled to his esophagus to measure PH over several days. However, there was so much visible acid caught on camera that was deemed unnecessary. I am thankful, because that meant an admission or a return trip to get disconnected. The pic is the big area of concern...there is a large bulge in the middle of his esopgagus. Dr is thinking the compressed subclavian artery we found last summer might not be asymptomatic after all. For now, we wait on biopsy results and a barium swallow study in March. Dr M fears the artery may need moved, which is major surgery. Of course, swallowing and breathing are also really important. Lots to think about and consider.
Thank you to all who have prayed for us, encouraged us, helped with Isaac, etc. We truly appreciate all who help us keep things as normal as possible and all the prayers. Thanks to God and our friends and family, there is peace, joy, and laughter when things get tough.
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