So the past week, I’ve picked up the pencil and started sketching. I started out with the vase/face exercise and boy was it tricky! Then, I just started sketching what was in front of me at the moment. Below are some pictures:
Not very impressive but definitely not terrible for someone who hasn’t picked up a pencil to sketch since high school!
I think moving forward I will focus on trying to sketch quickly rather than accurately from the perspective of what I’m hoping to accomplish – get better at sketching user experiences.
On the topic of sketching, I’ve decided to join a local UX book club and our first meeting is this Thursday. I’ve downloaded the book See What I Mean by Kevin Cheng and I need to speed-read through it to be a productive member! It’s all about using comics as a form of communicating so I think it’ll align nicely and will no doubt morph how I continue to do my sketching exercises.
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:
All dressed up for Xinlei’s Wedding in October
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!
It’s been a long time since we threw a party. We missed Evan’s pre-birthday celebration; we missed our annual post-Christmas dinner and gift exchange; we haven’t thrown a birthday party in a while. Thus, it is time for some fun at the Fung’s!
I should qualify the post title with “pending conditions being waived by July 13″. It’s been a hectic three weeks. In addition to all of Joseph’s work deadlines and Evan being in the hospital, we’ve managed to put an offer on a house in Columbia Forrest and sell our house on Wild Ginger (pending standard conditions of financing and house inspection).
Why are we moving? Selfishly speaking, so we have more room to play with Evan and a yard for him to run around in. We also like having people over and the new house can accommodate larger parties.
So… over the Canada Day long weekend, we cleaned and de-cluttered our whole house so that it could be staged and photographed. We emptied three van-fulls of “stuff” from our house and dropped it off at Goodwill, Marillac Place, and the dump. What a difference it made! We were quite impressed with how quickly the place transformed, with the help of Diane Stickney, one of our realtors and her photographer.
Our future house: 804 Grey Alder Court
The house was officially listed on MLS on Tuesday and today we got an accepted counter-offer! Crazy times! Many thanks to Paul Stickney, our primary real estate agent, who helped us sell our house.
And so it all started two days after Evan was discharged from the hospital back in May. He had his EEG done on Monday, April 30 and was promptly discharged on the Wednesday because there were no abnormalities on his EEG results. On Friday, May 4 at home I started noticing some very subtle body twitches that happened in clusters. By the next day Evan’s eyeballs started to flick-up with the twitches and these happened throughout the day. Joseph and I visited Dr. Google and found some disturbing articles about Infantile Spasms so we decided to record of few of these episodes (http://www.youtube.com/watch?v=dXRN2Uz8KY4) and ended up sending them to the pediatrician, Dr. Wilson by the following Wednesday.
The doctor didn’t get around to looking at them until Saturday, May 12 but then phoned us to tell us not to worry because Evan’s previous EEG was normal and he didn’t show any other signs of infantile spasm. The doctor was pretty sure it was only Benign myoclonus of early infancy or benign non-epileptic infantile spasms (something that did no harm and would eventually go away on its own) but asked us to keep an eye on his symptoms in case anything changed.
I was a bit nervous about this conclusion because the twitches didn’t *technically* start until four days AFTER the EEG so *technically* Evan could have been perfectly fine on Monday but could have developed something by Friday. However, I wasn’t the specialist and so we just let it go.
On Thursday, June 14 Evan had his regular check-up with Dr. Wilson at Grand River Hospital. We informed the doctor that Evan’s twitches were still present, got a bit stronger and started to annoy him a bit (previously he didn’t seem to notice them as you could see in the video link above). He also started to do a head-drop with the twitches. Dr. Wilson ended up ordering another EEG for Evan as precaution just because it would really suck to have accidentally missed something like Infantile Spasm.
We were told that scheduling an EEG would take 4-6 weeks but on Monday, June 18 I got a call from the hospital asking me if I could come in with Evan by noon. I was like, “hey, the sooner the better!” Dr. Wilson told us that if the EEG results had issues, he would definitely be in touch. So the motto of the week was, “no news is good news!”
At the end of the day though, I’m so glad Evan got the new EEG even if it was bad news; because otherwise we would have still assumed it was Benign myoclonus of early infancy.
On Friday, June 22 after Infant Development from the Region of Waterloo’s Public Health Department had visited Evan for his monthly assessment, we got a call from Dr. Wilson. I was hoping that I wouldn’t get a call… :p But such is life and I did get a call and was told that the results came back with abnormal activity. The abnormality was not typical of infantile spasms though but it definitely wasn’t normal either.
As such, we were referred to a pediatric neurologist, Dr. Mesterman, at McMaster Children’s Hospital. Dr. Mesterman wanted an EEG done at McMaster as a basepoint so we went for another EEG on Monday, June 25. The EEG results were the same: not enough to conclude infantile spasms but his physical reactions (eye rolling, arms & legs jerking, and head-dropping) were alarming enough that the pediatric neurologist didn’t feel comfortable sending him home unless she could get a 6 hr video EEG within the week.
Unfortunately, as an out-patient, the earliest 6 hr EEG had to wait until July 19. This wait was unacceptable because if Evan did have infantile spasms, it would need to be treated ASAP. And so Evan had to be admitted to the hospital. But first we had to wait in emergency until a room would open up in the ward. This process took about 7 hours. Long day…
Tuesday morning rolled around and the video EEG started recording. I was instructed to push a button every time I saw a spasm and record it on paper so they could reference the video and the EEG readings. Within the few first hours, I was able to capture seven spasms and the pediatric neurology resident confirmed the abnormal activity on the EEG and took it to Dr. Mesterman.
Dr. Mesterman along with the epilepsy specialist were originally quite confounded by what they saw on Monday’s EEG and really wanted to see the longer video EEG results. Upon seeing the start of the video results, Dr. Mesterman was still uncertain if Evan had infantile spasms and wanted the expert opinion of the epileptologist. Since the epileptologist had already left for the day, we were asked to stay for another day and get a full 24 hr recording of Evan’s brain waves.
The full sleep cycle was useful in concluding that Evan’s brain activity was just too normal for him to have infantile spasms. Not only did it show normal activity during all cycles of sleep (less the sporadic spasms), he was also not regressing in his development even though his twitches have lasted for over six weeks. Apparently, infantile spasms are known to go downhill very quickly.
At this point, they firmly believe Evan does was not infantile spams (huge relief!!!) but they still don’t know what kind of spasms Evan is having.
In order to better understand why Evan may be having seizures, Dr. Mesterman wanted an MRI done. Again, as an outpatient, the wait time is about 4-6 months and although the MRI does not influence the type of medication Evan needed, it would still be better to know if anything was structurally abnormal in his brain. So we stayed yet another day to get the MRI done.
Cross-section of Evan’s brain from the MRI. His brain is developmentally aged at 3-5 months which would explain why he’s a little behind. Very normal for preemies.
Thursday morning Evan was the first one to get the MRI. Thankfully, nothing was structurally wrong with his brain but something is definitely functionally misbehaving. Unfortunately, there’s still a lot of unknowns in the world of seizures and epilepsy and so Evan shall remain an “International Man of Mystery”.
He has started seizure medication (Keprra) and we will ramp up his dosage over the next few weeks. If the medication works, he will be on it for about two years before they try weaning him off it. If the medication doesn’t work, they will increase the dosage and/or try a different medication. And if that still doesn’t seem to have any affect on his seizures, they may just recommend doing nothing because one has to weigh the pros and cons of medication side effects with medication efficacy.
A follow-up EEG has been scheduled for July 23 and hopefully we will have some better news regarding Evan’s epileptic condition.
On a VERY happy and different note, Evan can now laugh consistently! YAY!!!