It hit me this morning...today is July 2nd...July 4th weekend...6 years ago it all started...at least the major disease progression...3 years ago...we got a call from our geneticists setting up a conference call for later that day...a day that would confirm some of what we already knew, a day when hearing 3 letters and 1 number would change our lives more then they had already been changed. We have a diagnosis, we have never gotten a whole exome sequencing back this clean...Ian has VRK1 (PCH1A).
So many things have changed since major disease progression has set in as well as getting an official diagnosis...some in ways we imagined and some in ways we could never have imagined. I want to take the time to re-educate...to our knowledge Ian is now one of 6 diagnosed kids with VRK1, he has been published in a few medical journals (hopefully through these other publication others with VRK1 will arise). There is still not much know about VRK1 (PCH1A), so we continue to take it one day at a time.
VRK1 appears to be important for the survival of motor neurons (responsible for movement) and for the development and maintenance of a structure in the brain called the cerebellum. Spinal Muscular Atrophy [SMA] with Pontocerebellar Hypoplasia [PCH] Is Caused by a Mutation in the VRK1 Gene...at this time due to the rarity of VRK1; its role in processing and transmitting information by electrical and chemical signaling is very limited. To sum it up Ian has a progressive motor neuron disease which affects the voluntary muscles that are used for crawling, walking, head and neck control, and swallowing (SMA) along with an unusually small and underdeveloped cerebellum, the part of the brain at the back of the skull in vertebrates, which is the part of the brain that coordinates and regulates muscular activity.In addition, a region of the brain called the pons also fails to develop properly (PCH). The pons help to transmit signals from the cerebellum to the rest of the brain. Ian does not have SMA or PCH, but these two rare diseases are used to describe two clusters of symptoms caused by the alteration VRK1.
Most days, Brian, Becca, Ian and I, just go with the flow...take it as it comes, cherishing each moment, trying to remember what is important, EACH OTHER, all the while knowing that things can change in a second. We have seen it happen many times over the years, however, based on decision Brian and I have made we know that each time there is a change, we are closer to Ian being pain free and at peace. Our decisions have brought us peace.
Sometime yesterday, Ian started to not feel good....you could tell he was fighting something. Tired, runny nose, possible fever (that is hard to know for sure since he can't regulate his body temperature and never really runs one), complexion pale. He slept well last night and woke up looking better but still saying he was not feeling better. We are keeping a very close eye on him, increasing his respiratory treatments, giving him something for possible fever and trying to get him to take naps. We will continue to cherish our moments.
Remember to treasure yesterday, dream of tomorrow but live for today.