Roots (part 6)

We have planted some roots in Columbus Ohio.

We have been here for 2 weeks now and should be here for another month or so.

Mason is part of a clinical trial consisting of gene replacement therapy for Spinal Muscular Atrophy. This trial is in its 3rd phase. It is promising. It is hope. And from here Mason should be able to beat the cruel SMA statistics.

As it is a clinical trial there is not much information that we are allowed to release but I will give you alittle rundown.

It was a hard journey to get here. Approximately 2 years ago we would have been referred to a palliative care team to be supported. Now there are a couple of options. But that did not make the choices any easier.

There is a drug called Spinraza. It is amazing. It slows the progression of deterioration but does not help improve what is already lost. Spinraza is a spinal injection that is needed every 4 months. As a Type 1 Spinraza is covered and it is almost $1,000,000 for the first year and half of that every consecutive year after that. All other types it is not covered in Canada. We were blessed to have that option. While waiting for Masons diagnosis the doctor had already started filling out paperwork to get Spinraza in for us. Once his results came back it was a couple weeks and Spinraza was waiting at the hospital for Mason.

During this waiting period, Caran had joined a group for SMA support and a lady reached out and gave us information about a clinical trial. We contacted the company and they said that they were interested in taking Mason. But there was a list of criteria that he had to meet. He had to be above the 3rd percentile for weight, he could not require breathing assistance, he had to pass a swallowing test, and he had to be under 6 months of age, along with a bunch of others stipulations. At this time Mason was not gaining much weight and was just borderline at the 3rd percentile. We needed him to eat and keep it in so he could gain. We sent over videos and sent over information to the doctors preforming this trial. He was very pleased with Mason. They told us that they would love to have us in the trial. Then we waited for them to give us a date to start the assessment to see if he could make it in.

The catch 22 is that if we wanted him in this trial we were not allowed to use Spinraza.

So that put us in a sticky place. We were pressured to do Spinraza since it was available immediately and proven to slow the progression. With SMA every day counts, the sooner you get Spinraza the more likely you are to stay where your at. With Spinraza if they do not continue to see improvement after 5 doses of it they cut the funding. We know that Spinraza is about slowing progression and that you may not always see improvement with it. Also spinal injections come with its own risks. We knew that we did not want that life for Mason.

Having to wait to confirm a date just to just start the assessments (meaning he isn't accepted at this point) was a very hard and long wait. Knowing we had something sitting there and available for us to use and help was so tempting. But in our hearts we knew that this was the road Mason was supposed to talk. We waited and waited and waited. Finally the call came that gave us a specific date to book our tickets to Ohio.

We are extremely excited to be here. The results from the first couple of Phases of this trial are extremely promising. Things that are unheard of for SMA1 children. Babies being able to sit independently. Some even being able to eventually walk. Babies being able to eat without a feeding tube and babies are not relying on breathing support.

We know Mason is here for a purpose. He is going to be an integral part of advancing treatment for genetic disorders. We are very excited.

I think that is all the information I am allowed to give.

Oh, and the big day is tomorrow.