Jack's story up to today

Well were should we start? I guess in the very beginning.

Jack was born in May of 2004. He was full term, actually overdue. The labor was normal and quick. Jack was released with in 24 hours of birth. They were having trouble with his O2 levels, but they just said to go to my doctor with him the next day.

I felt from the beginning something was not completely right. Jacks sleeping was horrible from the start. He had chocking issues, eyes wondering, and muscle signs right away. Jack was hospitalized for an unexplained episode as the Er doctors called it. He choked, stopped breathing and turned blue for about 30 seconds at 6 weeks. He also in his first year of life had pneumonia twice. It seems he was sick with a cold all the time and couldn't get rid of it. He has had bronchitis several times also. The doctors say he has asthma and possibly allergies. He has had poor weight gain all along. He gains and then might loose weight, then gain a bit again. He is in the 10% for his weight and height at this time. He is considered "failure to strive". I hate that terminology. When sleeping he has long pauses between breaths at times.

He crawled, walked, spoke way later then the norm. He didn't walk until 22 months and speaks a lot but is not understood that well. I changed doctors after his first birthday due to being told "he is fine, some kids are just slower at things". A mother knows, always follow your instinct. So I changed doctor and demanded he be refereed out to be evaluated. I felt the muscle tone was extremely low, and he was to behind. Sick all the time, choking, sleeping issues, the list goes on. So he qualified at that time for Physical Therapy. Jack at the beginning and now has good days and bad. His sleeping has gotten worse lately. He wakes up in pain with muscle cramping. We have found out from the specialist this is common and some tips to help him. When he walks he appears if drunk- wobbly and falling. With fatigue or sickness he falls more and is a accident waiting to happen. Later he qualified and is receiving Speech and Occupational Therapy also. Cognitively and developmentally Jack is a head of himself. This in itself causes him much frustration. He is smart and his body doesn't cooperate or people do not understand him.

His new doctor said he thought he was ok also. He said some kids just need extra help. Jack has and was experiencing tremors, eyes shakiness, and other things that just didn't settle with us. To make a extremely long story shorter, it was his physical therapist who finally got me a referral to a Neurologist. She was suspecting a mild case of C.P. He checked out fine neurologically, but his blood work didn't come back normal. The Neurologist also said he had extreme low muscle tone and saw him have tremors. He thought much was muscle related. His Carnitine levels were more then 50% lower then were they should be and some other blood work was not normal, so he refereed him to a Metabolic Specialist. That is where, based on his symptoms, blood results and urine results, he got a preliminary diagnosis of Mitochondrial Disease. There are only two specialist for this disease in the US. This is a rare genetic disease. Jack is rare because he appears to be a milder case at this time. Normally these pregnancy can result in miscarriage and when carried full term these baby's are usually more severe.

We went in January to see the specialist. He is at the Cleveland Clinic and is a Neurologist and Geneticist that specializes in Mitochondrial Disease. This is where we got more answers. Jack at this time is on a waiting list for a muscle biopsy. Jack's diagnosis is Mitochondrial Disease and that will not change, but they want to see if it is the primary disease or if it is secondary to another genetic disease. With Mitochondrial Disease they are seeing cases where it is secondary to something else. We want to rule that out if possible. He also has a genetic test that has only been out 4 months and that is a very good test to get done. The test is $3,700.00 and our insurance will not cover it at this time, so we are going to work on making that test possible.

There is no prognosis or cure for what Jack has. There are treatment options, but the more we find out about his disease, the more treatment options we will have. Each case is different and Jack could get worse or better with age. Mitochondrial Disease can effect any main organs so we have to keep checking on them. We are working on getting these tests done and making arrangements to afford the costs of the trips. Jack is receiving Physical, Speech and Occupational Therapies at this time. The Doctors have taken him off all meds so nothing is masked when they do the muscle biopsy. Jack is also waiting to be refereed out for a swallow test at this time due to the increased chocking, at times choking on his own spit.

If you want to know more or some web addresses so you can learn more or understand more about this genetic disease please feel free to email. We still are learning more every day.

Jack is happy and does well. We thank God for that and the blessing of him in our lives. People can't believe he is ill when they see him, unless they know his condition. We believe he is going to beat this and not get worse as we have heard most commonly happens. We believe he will be a walking testimony some day. Life is not easy for Jack but he and us take it one day at a time.