Gosh, I don’t blog a lot these days. There’s a lot of reasons for that: 1. Trey is doing well, so my need to write with updates or for cathartic reasons is not as often (of course, this is relative and speaking from rare disease world, as last week Trey had ERT Tuesday, sedated tooth extractions Wednesday, Intrathecal ERT under general anesthetic Thursday and left yesterday with Ryan to UNC for clinical trial testing). 2. I’m not doing as many fundraisers. 3. I have been and am making a conscious effort to live presently and watch and be instead of spending so much tim up in my head (which leads to writing ;-)). With that said, have I got some updates for you!!
First, our family’s ONLY fundraiser of the the year, the Scotiabank 5K & 1/2 Marathon is on Sunday, June 26!! Please join us to run or cheer or donate! If you want to run or cheer, send me a message for more info. To sponsor a runner, you can check out “Team Trey’s” page and donate to any of the runners! Click here to check out who’s running for Team Trey.
If you’re on the fence about donating, here’s a couple things to consider: 1. MPS is rare so we don’t get as much love (or donations or awareness) as other more common diseases 2. Rare disease research is completely privately funded- there is not government support- so every dollar matters!! Because of this, I am SO grateful to the Higginson’s extended clan (http://www.jacksjourney.ca/) and JF Aublet & Edith Lacroix’s family (Hope for Felix-Antoine, Felix-Antoine is pictured above) for joining The Isaac Foundation and fundraising for the MPS II Fund. It takes a lot of the pressure off and brings so much community and sense of family not only to our fund, but the entire Isaac Foundation. 3. The Isaac Foundation puts your donations straight to research. Check out The Isaac Foundation’s CRA status here, it’s something we are very proud of!
If you haven’t seen our Grants page yet this year, it’s worthwhile to take a look. On January 31, 2016, with the awesome support and generosity of The Isaac Foundation, our MPS II Fund granted $62,000 to Dr. Douglas McCarty at Nationwide Children’s Hospital for his MPS II gene therapy program (we started funding his research back in 2013). There are so many reasons I’m really excited about Dr. McCarty’s work:
- Dr. McCarty’s wife, Dr. Haiyan Fu, has led the way with gene therapy research in MPS III, which means that they have worked out many of the kinks with applying to the FDA, with pharmaceutical companies etcetera, so that the MPS II program is moving speedily and steadily along.
- Dr. McCarty gives us regular updates and is very down-to-earth and transparent with his process, which builds trust, hope and excitement!
- Dr. McCarty has gained the support of MANY MPS II organizations all over North America, which enables his research to go faster and farther!
- And last but not least, Dr. McCarty’s research is promising and is getting darned close to human clinical trials.
Next up: Update on Trey. Every year, we see opthalmology, rheumatology, orthopaedics, ENT, audiology, pulmonology, cardiology, biochemical disease and plastic surgery (I’m probably missing some department…). He sees a speech pathologist and occupational therapist weekly, has weekly IV enzyme replacement therapy (ERT) at home, and monthly intrathecal (IT) enzyme replacement therapy via lumbar puncture under general anesthetic at BC Children’s Hospital. We travel twice a year to the University of North Carolina for trial follow up.
Trey gets followed by a lot of specialists. With each appointment comes some level of anxiety that things have worsened, as MPS II is, after all, progressive. However, since Trey began his IT treatments, the progressive nature of MPS II has radically diminished. Trey has mild carpal tunnel syndrome, some narrowing around his spinal cord at the base of his neck, mild thickening of his mitral and aortic valves in his heart leading to some regurgitation, mild to moderately severe hearing loss, some buildup of GAGS in his lower airways and bone abnormalities, but the rate at which things are progressing are either VERY slow, not at all, or reversing.
For example, Trey had spots on his retinas that leads to night blindness. Those have disappeared in the past year. His hearing is now stable, but for the first three years after IT treatment started, his hearing improved. His speech, attention and skills are developing. At the age of 12, Trey is still learning, which is phenomenal and miraculous, given what would have occurred had he followed the natural progression of the disease.
As you can tell, IV and IT ERT are not a cure. There is still a lot of love that Trey’s body needs. However, not progressing with a terrifying pace towards death, is, to put it mildly, relieving. IV & IT ERT have bought us time to find that cure Trey and all boys with MPS II so badly need.
If you’re still reading, grab a tissue, you’ll need it. In April, Trey was in our homeschooling group’s production of Peter Pan at Kay Meek Theatre in West Van, which had been rehearsing since September (look at my beautiful kid on the far left, he’s having the TIME OF HIS LIFE). The week after the shows ended, I sent an email out to the group thanking them for supporting Trey, for without the entire families supporting Trey, he would not have been able to be in the show. This included everything from kids making sure Trey was in the right spot at the right time doing the right thing, to parents talking to their kids about Trey’s differences, to the directors and backstage parents (which spills down to their kids) speaking respectfully to and about Trey. I wanted to share with you one of the responses I received from the email I sent out because if everyone could see Trey through these eyes, well… read for yourself (permission was granted to share this email, but the name has been changed to respect privacy):
“Trey has enriched Emily’s perspective on life immeasurably. She talks about Trey often. The way she views the world is different now as she considers Trey. He is no longer “disabled” in her mind. She now sees him as someone needing to have access to different help than she does. She thinks about him when she sees the way the world is and considers how we can help him play a bigger role in it.
One example: Emily wrote up a science lesson on self-driving cars. Trey features in her writing as “a boy I (she) knows, that when he grows up, a self driving car will give him independence he couldn’t have.” I was in tears. It’s a simple reflection, but I know from listening to her talk about him, there is a changed world view behind those words.
The advantage of Trey in MT Deb is completely ours to share.”
And if you’re not completely bored yet, below are a few links I have shared on Facebook, in case you’re not on Facebook or missed them.
An article from the Wall Street Journal that reminds me I am a dragon mom. Trey may be doing well, but that is because of a drug in clinical trial for a rare disease. This article strikes that all too familiar fear into my bones and reminds me that I will likely always need the ability to breathe fire for my boy: http://www.wsj.com/articles/mental-dystrophy-at-the-fda-1461885588
An update on Isaac McFadyen, the child behind The Isaac Foundation, our friend, and a boy who is only weeks younger than Trey and was diagnosed just months before him: https://www.theisaacfoundation.com/stop-this-train-an-update-on-isaac/
A song written by MPS II mom, Melissa Hogan, which helped raise a welcome amount of awareness for MPS II and was nominated for numerous awards (grab a tissue for this one too): https://www.youtube.com/watch?v=F7MubmW7dxU
Love to you on this first day of May. XOXO Deb