“No one who hopes in God will ever be put to shame.”
(First of all, I apologize for the blogging hiatus. I had to send my computer in to be repaired and life is busy, as I know you can all relate!)
So what does John actually have?
This is something you don’t hear us speak of often… Not because it is a touchy subject but because we haven’t always known the answer ourselves and because we don’t particularly think labels are that helpful in John’s case.
Like many other parents we know, we do not like to define our son as a “special needs child” or as disabled but rather as a child with special needs and certain challenges. First and foremost, he is John, a beloved child of God. His special needs are just a part of his story.
John and his twin, Warren, were born healthy but on their second day of life they began having seizures. (Feel free to skip to the final 1/3 of this post for the conclusion….there is a lot of medical jargon coming up!) John (and Warren) was diagnosed with nonketotic hyperglycinemia, which he then tested negative for after coming off his ventilator. This has been the same story with several other devastating diagnoses: Ohtahara Syndrome with a burst-suppression pattern EEG, Dentato-olivary dysplasia, various metabolic and genetic disorders, neuronal migration problems, and Leigh’s Disease (a severe and progressive mitochondrial disease) in early 2010 at a year old. Look up any of these terms if you want a scare. He actually did have some of these diagnoses but was miraculously healed.
More recently, the Manton Center for Orphan Disease Research at Children’s Hospital Boston sequenced all 20,000 of John’s genes and ours as well. At first they believed a mutation of the PLXNA3 gene to be the cause of John’s problems. We found this out last October in Boston when Daniel was just 3 months old. They said we were very fortunate Daniel didn’t have this mutation, because it is passed through the mom (X-linked) and therefore you have a 50% chance of a boy getting and therefore expressing the mutation or a girl carrying it (but not being affected due to having two X’s). That was a lot to process, having just had another baby and still planning to have more children down the road. NOT that we find any children with disabilities a “bad” thing (clearly, we adore John and Warren, problems and all), BUT it is another thing to wish medical challenges and suffering upon your unborn children. We’ve been there; it’s terrible to witness your children in pain.
Thanks be to God, we later found out that someone in my family actually does have that mutation but is clearly healthy and so we ruled out that mutation as the cause of John’s (and Warren’s) problems. Another gene was found to be mutated, this one extremely rare as well but known to affect the central nervous system: SCN1A. It took awhile for Boston to find either of these genes because they were initially looking at every gene related to the mitochondria, still assuming that was John’s primary problem. They were VERY relieved, as were we, that none of those tested positive and John’s mitochondrial issues are actually secondary but not the primary cause of his problems. Primary mitochondrial disease can be brutal… kids get worse over time and merely plateau at best. We never felt John had a primary mito disease because we have seen so many positive changes and miracles: No regression, only improvement in development (even if slow), seizure-freedom, medication-freedom, a perfect MRI that was once abnormal, a normal EEG that used to be the worst possible one, etc.
Now based on John’s symptoms and tone, he could probably be diagnosed with Cerebral Palsy or other diagnoses. But he hasn’t received that diagnosis and again, it’s not helpful in John’s treatment at this time. CP, like other diagnoses, are brain injuries. And from the beginning with all the seizures, we’ve known that John has a brain injury, regardless of the cause, and that was enough for us in terms of treatment. We found the Institutes for the Achievement of Human Potential that evaluates children with all sorts of brain injuries (genetic, traumatic, ADD, autism, stroke, oxygen loss, CP, Down syndrome, etc.), and what a relief it was after so many confusing diagnoses and prognoses to be told, “Congratulations, your son has a brain injury.” I know that sounds strange, but when you finally focus in on the source of the problem you can then focus your treatment…. To treat the BRAIN rather than the myriad of symptoms.
Current diagnosis boiled down: Genetic brain injury causing secondary mitochondrial disorder along with developmental delay
-Death (yes, many doctors said John would probably not live to see his first birthday)
-Epilepsy and completely sedating drugs as the norm for John
-Need for feeding tubes, breathing support and invasive medical care
-Regression in development…plateauing at best but not further development
Current medical prognosis:
-“John is writing his own book.”
-May catch up and do everything normally; may not.
With God, ALL THINGS ARE POSSIBLE! (Matthew 19:26)
We are also grateful that giving up the illusion of control (something that is truly impossible for us at times!) is possible with God, and that He graciously enables us to have moments, days, and weeks where we trust that HIS plan for John and our family is best. Thank you for your continued support and allowing us to share this medical update to give you additional insight into how to pray for John.
We also have many praises to report:
-We found a swim therapist who started last week, and she is wonderful! John has loved his first two sessions with Miss Kate! The water is very healing and a great place to stretch and practice skills with the support of the water.
-John, who rarely speaks, said “Daddy” very clearly a couple of weeks ago when trying to get Meade’s attention when he was feeding both boys their dinner.
-John is sleeping much better at night!! This has been a challenge most of his life and we are so thankful we are all getting a little more rest!
-We are starting John’s home program (through the Institutes) back up September 1st!! And it is a new program that is a little less intense and time-consuming, which worried me at first but I think it will be a perfect fit for John and our family…exactly what we have been praying for! And God has provided!
|Recent trip to the Georgia Aquarium!|
|We went to a local therapy/fun center for both typical kids and kids with special needs with the local Mom's Mitochondrial group. I was kind of nuts to attempt going by myself with both kiddos but I'm glad we went!|
|John on the platform swing at the center.|
|In the ball pit. These balls light up with different colors. This is in the sensory stimulation room.|
|Bath time is always fun! This is the chair John sits in when the boys take a bath.|