Hope for Harrison
Hope for Harrison
It is with permission I share this story on behalf of my sister Brittany Blake, brother in law Ken Blake and their two beautiful sons Harrison and Greyson Blake.
On May 19, 2020, Ken and Brittany welcomed their precious first child, a son, into the world. Amongst a global pandemic and in such uncertain times, Harrison Roger Blake brought so much joy to his first time parents. Happy and healthy, Harrison would continue to grow and meet his milestones along the way. As time progressed, Brittany and Ken would notice that Harrison began to physically display signs of struggling with developmental milestones. At Harrisons 12 month check up, Brittany would discuss these concerns with their family doctor.
In June of this year, Harrison began to show signs of slowly regressing in his gross motor function. They hoped that it was an anomaly. While his regression wasn't necessarily sudden, it didn't go unnoticed. A little boy who could stand was no longer able to do so. Sitting up was no longer a thing, as he would eventually tip over to one side or the other or even forward. Eating became a struggle and eventually Harrison would have to go back to eating pureed food and other soft and simple things like fruit pouches, baby food, etc...
Not all of that happened immediately. Harrison would start seeing a paediatrician. He would slowly have a large team of therapists (physio, occupational, speech, etc...) come together and come into their home to try and get their sweet boy back on track and back into the life he'd come to know.
Eventually, Harrison would be referred to a neurosurgeon and facial and cranial specialist at Alberta Children's Hospital by the paediatrician, to have the shape of his head looked at. That visit would come without results, which at the time seemed to be a great sign and a huge relief.
A referral was also made to see a genetics specialist. That would come several months later.
More time would pass. No improvements seemed to come. No further regressions became apparent. More appointments would come and go. Everything had seemed to plateau and so life would carry on with therapy sessions and still no answers.
In October, Ken, Brittany and Harrison would finally meet with the genetics specialist. Not knowing what to expect, they went into this appointment with the thought in mind that nothing would come of it. They left the appointment that day without an official diagnosis, however, were told that there was definitely something going on with Harrison.
They were told that Harrison would be tested for what the geneticist called "her best guesses”. This would possibly take up to 4 months to get any sort of news back from the full spectrum testing.
No diagnosis was given after the first round of genetic testing. This felt like a huge relief but Brittany and Ken were still left burdened with no answers or understanding as to what was happening with sweet Harrison. Brittany and Ken would then be asked to perform cheek swabs to provide extra genetic material to test and to get a broader spectrum for the testing on Harrison.
Fast forward to December 6, 2021, Brittany would give birth to their second son, Greyson James Blake. Elated with the birth of their latest addition and amidst soaking up all the joys (and struggles) of new born baby bliss, a mere four days later their lives would change forever. On December 10,2021 they would receive Harrison's diagnosis.
On a Zoom call Brittany and Ken would speak with the geneticist and the genetics counsellor from Lethbridge. They would come to find out that Harrison has a very rare genetic disorder knows as GM1-gangliosidosis, and with these findings, their world would crumble. It was a 1 in a million chance that Brittany and Ken would have the same mutated gene that would cause this disorder. To follow, there was a 1 in 4 chance that it would be passed on to Harrison.
Greyson, as we are made to understand, has the same 1 in 4 chance as Harrison at inheriting both mutated genes (one from mom and one from dad) that causes the disorder. Greyson had his cheek swabbed on December 16, 2021 and they await the results from his testing.
Over time, Harrison will have more and more of his abilities taken from him. Organs will eventually shut down. Limbs will begin to stiffen and with that, gradual loss of function. It will attack his eyes and brain.
We don't have any timeline as to the rate of progression as so little is known about this very rare disorder.
From here on out, Harrison will be making trips to the Alberta's Children's hospital to see a team of metabolic specialists. This is to provide him a quality of life that he deserves as the disorder progresses.
Brittany and Ken have been made to understand that there are clinical trials for gene therapy for this condition currently in the works in the United States. As of now, very little information regarding those trials is known. It is also unknown if Harrison would be a candidate.
As it stands, there is no cure for the diagnosis which Harrison has received, and while there's no discernible end in sight for him, there is no end to the grief and trauma that Brittany and Ken must endure with each passing day. They have been dealt an impossible blow, one neither of them could have ever seen coming. One that will shatter their hearts forever.
Through this Gofundme page, we are hoping to help ease some of the financial burdens that accompany such a catastrophic level of grief, heartbreak and trauma, and for Brittany and Ken to be allotted as much time as possible to spend with their sons. We understand the holidays bring financial hardships to many, and we are grateful for anything anyone has to spare at this time.
For more information on GM1-gangliosidosis please visit:
http://medlineplus.gov/genetics/condition/gm1-gangliosidosis/
Thank you all for following Harrison’s Story. Updates will be added regularly as we learn more.