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Andrew’s Story

Andrew is our 16 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 16 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)

 

Latest Journal Update

December

The mystery arm that won't move any further than this...
The mystery arm that won't move any further than this...
Well, in October Andrew had the issue with his back, we added a new Dr to our team with orthopedics, the new diagnosis of degenerative disc disease, and we honestly all hoped it was a "freak thing" and wouldn't happen again. About a month ago, Andrew woke up and couldn't move his right arm.  He wasn't feeling good and ended up having a very bad mito week. Riley neuro dr ordered a cervical spine MRI, thinking it could be related to whatever happened in Oct. This time, they did find foraminal stenosis in the left side of his neck, which is the narrowing of the hole inside the spinal cord. However, this doesn't explain why the right arm won't function properly. By the end of the week, his grip and strength came back and he bounced back from the mito crash. We had hoped the arm would be fully functional again, but no such luck. He has been doing physical therapy and after one month, he gained 2 degrees of movement back. We are trying not to get discouraged, as the ortho dr who saw us once again explained that it's a mitochondrial issue when things just stop working and we should be thankful it was a limb and not an organ!!! Perspective.....We do hope Andrew is able to regain the FULL use of his dominant arm. The picture above showing his arms up at Notre Dame stadium taken in October makes me sad. At this point we continue with PT and our next step is an EMG and nerve conduction study scheduled in January. As always, Andrew is fine and has adapted. He knows how to do things even with an uncooperative arm and says it could be worse. 
Andrew had an EEG last week and we are waiting on those results. It is the final step before he gets his license in April, so there is a lot riding on the results! As far as we know, he has been event free since 2010. We also followed up with the GI Dr last week. She basically feels there is nothing more she can do for Andrew and will see him in a year. He is being followed for the many GI issues mito causes, including: cyclic vomiting, reflux, erosive esophagitis, low motility, swallowing issues, duodemitis, and his compressed subclavian artery causing a bulge in his lower espophagus. He takes several GI meds multiple times a day. I am really not ok with waiting a full year to be seen and we are looking at our options. We feel like the Dr is writing us off because we won't let her shut his stomach down with medication like she was offering to do. The other mito parents are in the same boat....we are all missing our original mito GI dr who moved away.
We are winding down on 2014. Only one more appointment scheduled and that is the 6 mo cardiology visit. That one always makes me nervous! Other than that, we are looking forward to Christmas. I think the boys are looking forward to Christmas break almost as much as Christmas itself. 



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Gerry Drum
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Carol, Andrew and All....
Think of you all the time and pray often for help for Andrew and Cort. Not to mention you, who has to keep the light burning at both ends of the candle. Wish there was something else I could do. We love you and keep you in our thoughts and prayers. Ted and Gerry Drum