It’s been a long time since I’ve written anything on my blog but today calls for an update.
So not only is Evan a Baby Ninja, he’s now earned a new title of Baby Mutant Ninja! Haha. I joke, but one must see some humour in all this.
Last week we got a call from McMaster Children’s Hospital that Evan’s pediatric neurologist wanted to see us (sooner than later) and so we were scheduled for an appointment today. We weren’t quite sure what it was about but didn’t think too much into it.
Today we learned that Evan has what is called a Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS). To sum it up, it is a very rare genetic disorder where the SLC2A1 gene, located on chromosome 1, is mutated. This disorder impairs the brain from absorbing glucose (sugars) which then impairs the brain from growing and developing normally and is known to cause seizures in 90% of the cases. It helps to explain why Evan is so behind in his development and why his MRI, although fine structurally, showed evidence of delayed development and also why his seizure medications aren’t working.
At this point in time, there is no “cure” per say but there is a very effective treatment — the Ketogenic Diet.
We learned of this diet back in the early fall last year as an alternative “last resort” option for Evan’s seizures if his medications didn’t work. It was considered “last resort” because it’s a very intensive and rigid diet that requires a complete lifestyle change and it takes quite a bit of work/effort to make happen. In light of what we now know, the neurologist has essentially said to us that the Ketogenic Diet is no longer just an alternative. It is now the ONLY option.
And so, we now must embrace the reality of a complete lifestyle overhall to accomodate Evan’s new diet. We are also seriously considering changing our own diet in order to align ourselves better to what Evan must eat. I will share more about this diet as we embark on the adventure. We’re due back to McMaster for another learning session with the pediatric Ketogenic dietician next week. Fun fun!
You may ask, so what’s Evan’s prognosis given this disorder? I wish I could say everything will be fine but the reality is, there is so much variation in the clinical observations of children with this disorder that there’s no clear cut answer.
The Ketogenic Diet should eliminate his seizures and start helping his brain get the energy it needs to grow but we just won’t know how his development will progress — whether he catches up or just start a new a trajectory. Only time will tell…
If you’re at all interested in learning more about this disorder or the Ketogenic diet, feel free to check out the link above which points you to a light read.
Now to sum up the last five months which I have failed to document:
- Three days before our move at the end of August, I sprained my ankel very badly playing the season ending ultimate game and was out of commission for over a month
- Evan’s birthday party at the end of September never happened because I became grossly ill; we will have to make sure his 2nd birthday is super duper!
- We visited San Jose, Evan’s home town, in October when we went down to California for Xinlei’s wedding; Evan’s a great flyer!
- I went back to work in mid-November and switched roles to join the Engineering team as a UX Designer
- We celebrated Christmas with the whole Fung family (Anne & Joe, Sheila & Clayton, Donna & Mike) in our new house
- Joseph and I took a much needed vacation for just the two of us down in Cancun, Mexico at an all-inclusive resort; our oceanfront “honeymoon” suite was incredible!
Evan Laughing from August & November
That is all for now!