Luke’s past 8 months #travelingbaby #seaverautismcenter #phelanmcdermidsyndrome #localsphorluke
October 25, 2022, Luke and I hopped on an airplane to head to see a specialist for Phelan-McDermid Syndrome at Mount Sinai Hospital and the Seaver Autism Center. Our hope was that Luke would qualify for a clinical trial to help with symptoms of PMS. Luke did qualify!
Since that day, Luke has taken 8 airplane rides, gotten 168 injections, 10 blood draws, endless evaluations and he has been happy and made a ton of friends along the way.
On our last ride to New York last week, I found myself thinking, is it going to matter in the long run? Will all of this change the trajectory of his life, and honestly my own? Will his life look different when he is 6, 12 or 18 because of all this therapy, all of these tests, this clinical trial? The truth is, I certainly hope so, and I would do it again.
I struggle with making sure I am doing all of this for him, and not selfishly doing things that wont help, in a hope that he will improve. I believe so far, everything has been beneficial for him. Luke is saying more than I ever thought he would, his learning and comprehension is always improving, he tells me he loves me.
I am not sure if the medication in the trial, or the therapies, the starting of school, or increase in activities has caused his improvements, and I don’t care. All I know is that Luke is happier when he can communicate, Luke is happy when he can be with friends and family, and when Luke is happy, I am happy. I have a smidge less fear when he has improvements, sometimes it comes with greater anxiety because I feel he has so much lose if he regresses. A real emotional roller coaster ride!
Luke has the opportunity to continue this treatment if I want, if I believe it helped. They recommend intense therapy while he is on the medication. PMS just officially got an ICD code. What that means, is that insurance will start to think about recognizing it. Right now, it’s just some words in his chart, it does not help him qualify for therapy or treatment. He needs a ”real” diagnosis for that. Insurance will not cover anything experimental.
If you want a cure for something, all you need is enough money for people to care about it. Turns out, that is A LOT of money. We are lucky enough in the PMS community that Jaguar Gene Therapy, and other pharmaceutical companies are working on a cure. Everything takes time, and we are on borrowed time. Every person effected by PMS or any rare disorder is waiting and praying they get a cure in time for their loved one.
So I raise money for the PMSF because they are my biggest hope for a cure. I raise money for Locals Phor Luke, because Luke is my number one priority and making sure he can get these treatments, therapy and care now, and when he grows up is a commitment I have made. I have no apologies to give for this.
These past 8 months, have felt like 5 years. Me and Luke have both aged! I think it was worth it, I certainly pray it wasn’t for nothing. There is a sense of relief but also a let down that it’s over. It felt like we were doing something about it when we were in the trial. On to the next obstacle I suppose. Luke and his entire support system are ready for it. Thank you for reading and for all of your support.
This picture was from 3 days ago, the first picture on the first blog I posted was from our first trip to New York, age and a new Phelan Lucky shirt are the big differences!
Lots of Love,
Courtney
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