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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

Long time, no update...

Andrew and Jesse at 5K
Andrew and Jesse at 5K
Guess we are long overdue for an update. It's been the same ole, same ole with us along with some new things. Lots of appts, some good days, some bad days.  And a lifelong answered prayer thrown in there, too. 

It seems Andrew's GI symptoms just will not relent. About the time we get one GI issue under control, another one pops up. We were on a roller coaster ride with the compressed subclavian artery and discussion of whether or not to move it. We went back and forth several times. The last CT scan done got us an emergency appt with a cardio thoracic surgeon at Riley in May. No one bothered to tell me what the rush was, I just assumed they were finally ready to go with this. When we arrived, we were sent immediately for a chest xray and put into a room with Dr T. His first words to me were, "Well, there's no aneurysm!". I was about sick as we had no idea that's what the rush was about!! Although the compression is "pretty significant" he said, surgery is too complex and dangerous. He did discuss Andrew's case with the cardio-thoracic team and they were in agreement. For now, we leave well enough alone unless we absolutely have to move the artery. GI started Andrew on yet another motility med to help him swallow and digest. He takes Reglan, Erythromycin, Bethanechol, Zantac, Prilosec, Iberogast, and Miralax. It's a lot of meds to keep his esophagus and stomach moving, but he has chosen to fight a feeding tube as long as possible. Since then, he has also been diagnosed with cyclic vomiting syndrome. It's hit and miss, but there is a definite pattern to it when it happens and causes lots of abdominal pain, nausea, and extra fatigue. So, we've added zofran to help curb that. At one point things were really bad and the vomiting really messes things up with the mito. The GI Dr was about to give up and offered an antidepressant med to depress the nerves in the stomach, ie shut his stomach down. We said a big fat no thank you to that offer!!! Things have settled down since, thankfully! We are out of options with our current GI Dr at this point. We are considering a trip to Memphis to see our former GI Dr at his new location. He is the one who intervened when Andrew's gut was originally shutting down at 9 years old. He had the MACE (ostomy) put in and said he'd probably need a feeding tube within a year. I'm not sure there's anything different he could do, but we really like him and might appreciate a solid 2nd opinion on anything we could do differently. 

Mito clinic dr feels the mito is still slowly progressing and will lead to an eventual loss of functions. To look at Andrew, you'd never know. However, it does feel like the progression has sped up a bit over the last several months. But he is a fighter and gives 150% on a good day. The bad days have been more frequent but we will fight, fight, fight.

Andrew has had some episodes of wheezing and tachycardia and has an inhaler to use as needed. That honestly hasn't been a big issue and it's a very portable fix! We can handle the easy stuff. Andrew's latest labs also showed high cortisol levels, which is attributed to Cushing's Disease. Probably our biggest update (with Andrew, at least) is an event that happened a couple of weeks ago. He went from sitting to standing and just froze. He was in extreme pain in his back. At this point, we weren't thinking much about it. However, we soon realized that his left arm was weak and he could barely grip. Then we noticed some very mild speech issues and Andrew was complaining of  some hearing loss in that left ear. Off to the ER he went!! ER immediately asked him to smile, which confirmed that they were also suspecting a stroke. Head CT was clear, thank God!! No stroke!! The speech and left arm weakness did clear up within hours. The pain continued and we were given a referral to orthopedics at Riley for degenerative disc disease. Very sudden onset since there was no injury, so it is being termed a "neuro event". Not sure if it was a tia, seizure, or a cell signal disruption issue. We see neuro in a few weeks to follow up.  

Andrew turned 16 a couple of weeks ago. He is growing up fast and is a great kid. To look at him, you'd never know! God has given him an amazing attitude about everything. He is a sophomore this year. He's still active with show choir, youth groups, FFA, and is the state MDA Ambassador. He enjoyed a week at MDA camp this summer. Andrew and I (Carol) also enjoyed a show choir trip to Chicago in the fall. Isaac is a 6th grader this year and keeps us laughing. As a family, we enjoyed a trip to Oceanside,CA to visit family. We were also blessed with an "assignment" to go make some memories. We chose a quick trip up near Lake Michigan for a fall break getaway. The guys were excited to visit Bass Pro and especially to see the Notre Dame campus. They are huge ND fans! I have included some pics since I've been such a slacker with updates. :) Here is a link to our Drew's Crew page on Facebook, if you'd like more frequent updates. https://www.facebook.com/profile.php?id=345547758856680&ref=ts&fref=ts

Our Drew's Crew team just hosted our first ever 5K last weekend and raised almost $3,000 for mito research! Andrew's lifelong BFF Jesse was the winner, which meant even more to us! Our friend Joni has been a tremendous blessing in keeping us going on the fundraising efforts. When we aren't given much hope for treatment, researching a cure is what we must focus on. As we get tired from the day in day out life with mito and all the trips to Riley, it would be easy to just forget about the fundraising and awareness. However, Joni has stepped in and helped in a huge way! Our Drew's Crew team walks and donates each May to the UMDF Energy for Life walk in Evansville. It is open to anyone - watch FB this spring for more info. 

About that lifelong answered prayer? I met my biological dad this past spring! It is something I have always wanted to do. It was also a big missing piece to our medical puzzle. It felt good to finally go to a genetics appt and say "I met him!" We are enjoying that new relationship and I am in awe of the fact that something I prayed for most of my life has happened. 

Our other news that has kind of shaken up our lives (no pun intended, but I am laughing at myself now).... Court has had some health changes over the last year, including a very significant hand tremor. He is now seeing a movement disorder specialist and being treated for early onset Parkinson's. Not what we wanted to hear, but we weren't surprised at this point. Andrew's geneticist was quite interested and is actually who sped up the referral to the movement disorder dr at IU. He has since diagnosed Andrew with a slight tremor, but nothing like Court's. Court has started meds and continues to work and stay active. That is his plan for as long as physically able, and knowing him probably longer than he is able. His Dr suggests things like kayaking, boxing, etc that use both sides of the body simultaneously. We laugh about how if Court's job doesn't work out, he could make lemon shake-ups at the fair. In all honesty, we can laugh or we can cry. I have done my share of crying over the summer but I'm done.  Looking ahead, I may need to make a change to a position that has insurance so we are prepared if there's a time when Court can't provide that for us. Meanwhile, we continue to fight every step of the way and continue to find joy along the journey.






























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1 Comment

Crystal Epley
By Crystal Epley
Love & prayers for you and your family! !
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