"Just like that our child went from a healthy, happy prospective long life – to 100% certainty he would die very young from this fatal disease."
A: We did not know that anything was wrong with Owen – we just thought he was a bit bulky and awkward. January, 2008, he had a few strange weeks – some fevers, some strange behavior, seemingly typical kid stuff. Then came the phone call.
In hindsight, we are grateful for that phone call. Owen’s pre-school teachers called to share that they felt he just was not at the same level as the other kids in his class.
Being the strong headed parents we were, we set out medically to prove there was nothing wrong with our son. We wrote a letter to his Pediatrician who had the amazing forethought to send him through many different avenues of testing. Again, helping us ‘prove the thought wrong”
We first went to an epileptic doctor – he was fine. We then got some blood work done. Results: something not right with his liver count. So after a retest – off to the liver specialist. She indicated that there are two causes of elevated liver issues – the liver enzyme and damaged muscle.
So off for more blood work –
The result – a call to Jen’s work on a Tuesday from the liver doctor stating Owen was to get to the neurologist tomorrow, his Ck Creatine Kinase was through the roof. The following day, after a review of the blood work and an exam. There it was – Duchenne’s Muscular Dystrophy.
This all happened from January 22 to February 6, 2008. The confirming DNA test results were received around February 24, 2008. John Owen is missing exon 49 and 50 on his xp21. Pretty technical stuff, but it all means he was born without the ability to make dystrophin and he will die from it.
Just like that our child went from a healthy, happy prospective long life – to 100% certainty he would die very young from this fatal disease.
A: It is a fatal disease which from the estimates affects 500,000 + young boys through out the world.
DMD progressively wastes muscle and causes muscle weakness. It begins with microscopic changes in the muscle. As muscles degenerate over time, the boy's muscle strength diminishes. With DMD, ultimately the heart muscle will stop working.
“Duchenne boys have either none or very little dystrophin in their muscle fibers. When its protective and organizing effects are missing, the muscle contraction causes the rupture of the muscle membranes, and this allows large amounts of calcium to flow into the fibers. The excessive calcium activates enzymes like calpain and other proteases that break down muscle proteins and initiate cell death programs, apoptosis. The consequences are a chain of events like inflammation and activation of fibroblasts which lead to fibrosis, scar tissue that slows down muscle regeneration and causes the typical symptoms of older Duchenne patients.” Günter Scheuerbrandt, PhD.
DMD is not a new disease. French physician Guillaume Duchenne de Boulogne and British physician Edward Meryon identified what would later be called DMD in the 1860s. In 1930s Peter Emil Becker identified a similar muscle disease that is less severe called Becker Muscular Dystrophy.
In the 1980’s the MDA research team focused on the muscle fiber membrane to explain DMD. In 1986 Louis Kunkel at Harvard Medical School identified the dystrophin gene which resides in the X chromosome in our bodies. In the late 80’s and 90’s researchers started exploring gene therapy in cells and mice. It was also confirmed that corticosteroid prednisone slowed the progression of DMD in clinical trials.
2000 and beyond has shown amazing advancements in research that can lead to a cure or as close to it as we can get. We believe that the exon skipping research, gene and stem cell therapies or utrophin therapy will break through soon and help all these boys affected with DMD (there is also a drug PTC124 for stop condons but that will not help John Owen since he is missing exons) Click here to learn more about the amazing research that is going on.
Though DMD is progressive, it is more aggressive than other forms of muscular dystrophy and we will start to see serious muscle loss within the next seven years.
Q: To learn more about the specifics of DMD....
A: There are two wonderful resources that you should check out...
Both are awesome educational sites
We keep fining mom's and dad's just like us - that have started their own journey to cure their baby ...please visit them
Q: How has your life changed from this?
A: We are trying very hard to keep life as normal as possible. We are living John Owen’s Adventure every day, as much as we can.
Owen exercises daily and goes to formal therapy every other week. He is also on a very healthy diet.
Fortunately today, Owen is very much an active, happy, loving little five year old.
We plan to keep him mobile for as long as possible
Q: What will change in his life?
"All I could see was his chair (wheelchair). All I could hear was his respirator."
Augie Nieto, Augie's Quest
A: Eventually, without a cure, he will lose the ability to walk. He will need leg braces within a few years. He will most likely have a heal cord surgery before the wheelchair. The statistics have him in a wheelchair by the age of 12. So we have seven short years to find a cure.
Following the wheelchair will come many other types of hardware that will keep him functioning and alive; mobility aids like lifts, electric beds, shower equipment, etc.
Mobility will not be his only battle, his respiratory function will start to decline around 10 years of age. As his respiratory function declines he will need a coughing machine, ventilators and perhaps a tracheostomy (a hole in his throat).
We will need home health aids, ramps, modified vehicle and have many worrisome days with many doctors visits.
He will most likely not live much past his 20s.
We must find a cure for him and for all the little boys that are struck by this fatal diseases.
Q: What does your family need?
A: We do not need anything now except for awareness and a cure. When you think Jerry's Kids, we want you to think of John Owen. The more people can associate this disease with someone they know the better chance we have to find a cure.
We would like as many people to learn about the disease and the AMAZING research that is happening all over the world. When we first learned about DMD, we wrote a simple non technical explanation of what we need for John Owen and shared it with our family. You can read it as well and this tells you really what we need. (letter to our family)
As we understand it - if we can 'break the code' and fix DMD there can possibly be many more illnesses cured.
We are fortunate to have great health insurance, solid employment and a huge support network of friends and family. So right now, all we need is Hope.
We also need YOU to support all the vendors on our Those that support us tab ~ when you visit these merchants PLEASE thank them for support JOA, John Owen and DMD! That is critical to us!
Also always thank your local firemen - they do so much for MDA! Bring um cookies or snacks or something fun to say thanks!!!
Q: Who will end Duchenne?
If you ever wonder who will end Duchenne Muscular Dystrophy, click below and select photo campaign