The purpose of this blog is multi-fold. One is to keep family and friends updated on Emmett. The second is to raise awareness of this serious disease. And it's also a journal to record history of events that are happening so fast that we may otherwise lose them. We invite you to follow along with us as we laugh and cry. After essentially 5 months of blissful ignorance, there have been three trips (in the first five days after the diagnosis) to BC Children's Hospital and the supports that are available in the surrounding area. Family from both sides has been there to support them, attend appointments together, and enjoy Emmett.
On August 25th there was a full day in Vancouver. Visits and appointments included a Dietician, Occupational Therapist, Respite Care Home Doctor, Neurologist, and Respirologist. The Respite Home, Canuck Place, is a well-appointed facility that is staffed with a full slate of medical supports and it is designed to provide short term relief for parents who are exhausted and, when necessary, long term care. This facility is for children up to 18 years of age. The team surrounding Emmett has become very large - Doctors, Nurses, Therapists, Social Workers, and Parent Support Groups. They are incredibly caring and also very blunt and honest. There is no mistaking the diagnosis.
There is a 2% chance that SMA 1 has just appeared out of no where; 98% chance that the parents are both carriers. Alisha and Josh will soon undergo genetic testing. After that has been completed, if they are in the 98% realm then the 4 grandparents will all be tested. After a long day in the hospital, back home to eat and debrief. Fortunately, home is only an hour away from the hospital.
Dr. Kathryn Selby is Emmett's neurologist. Her area of interest is neuromuscular disorders. She is very hopeful that the research will lead to a cure for SMA in the next five years. She is involved in a study that has shown positive improvements in the quality of life of her tiny patients who place their trust in the adults around them. Alisha and Josh, with support and guidance from their medical team and their families, have some very tough choices to make. The trial is not a cure - yet. But there is hope. While searching online, Alisha found the story of a little girl who knocked all odds out of her way and, at 7 years of age, is an example of the need for hope!
The Pacific National Exhibition is on and Emmett went to explore the sites and sounds on the 26th. Time to create some family memories. While they have been advised to avoid crowded places, they were also advised that they cannot live their life in a bubble and that they must carry on and experience memories. As you can see in the candid shot, Emmett was thrilled to be at the exhibition. Alisha was also introducing a bottle to Emmett. Since feeding is one of the challenges that babies with SMA 1 have, there was concern that breast feeding may be limited in the future and alternate methods considered. Some more physically invasive like a surgically implanted gastric tube. Also, some of the testing required the skill of sucking a bottle - which Emmett has not experienced. This caused some frustration for Emmett, for while he loves his soother, he did not appreciate the bottle.
Back in Vancouver on the 27th for the sucking and feeding test, part 1, Emmett passed with flying colours. While the near future holds another test, there was a celebration that Emmett's immense sucking power (I am sure we could pick him up by his soother and carry him around!) and capable swallowing meant that he was not at immediate risk of aspirating food. This is huge with an illness that has a serious impact upon breathing and swallowing.
Meanwhile, Emmett's house is bouncing with family and friends. A couple of Grandma's eagerly waiting to hold him. An Aunt from one side and an Uncle from the other. Many of Josh's family are in B.C., so he's had the opportunity to see many great Aunts and Uncles. Even his Great-Grandparents. A great Aunt/great Aunt and Uncle from Ontario have been out to visit. And just prior to the diagnosis Emmett had a chance to visit his Aunt and Uncle in Calgary during a road trip. This photo is classic Emmett! Personally, I think this look is a cry out for his grandpa in Ontario to come and see him!