Slow Progress and New Goals

Hello everyone, it is time for what it seems is my yearly Luke update. I did not know what I was going to do with this blog when I decided to do this 3 years ago, and I don’t even think “blog” is the right word for it, yearly newsletter sounds more fitting. Turns out, I have very little spare time to document Luke’s life, he is a very busy boy.

Last year we finished a clinical trial in New York, at Mount Sinai Seaver Autism Center. We love every person at that center. To be around people that see children and adults with Phelan-McDermid Syndrome and understand is like a breath of fresh air.

This year we went back for a check up. When we go, they do a variety of tests to assess Luke’s progress. He is a champ each time. He definitely remembers the center when we go. He loves New York City and Central Park and he tells me that in a not so straight forward way.

While we were there we met with one of our favorite doctors, Dr. Alex, he had a resident with him who was observing. Dr. Alex told this student “this is Luke, he is one of our most functional PMS kids.“ Now this may seem like a good thing, but it was more like a punch in the stomach for my husband and I. If Luke is doing so well, are we getting to the point where he will stop progressing? We know that most people with PMS do not develop past the mind set of a 3-4 year old. Also, if he is doing so well, what if he regresses? How much do we have to lose? Luke is already difficult to handle, a regression would be devastating to say the least, but it is a very real possibility for our future. I asked the doctor these questions, as we don’t seem to see Luke progessing very much anymore. He said that there is still time for progression, and he believes Luke has progressed since he saw him last.

Luke’s test results came in this week. They are all cognitive and common tests that special needs kids go through. Luke has done them many times in his only almost 6 years of life so far. When we first went to New York, Luke was 3 years old, he was 5.5 when we did the most recent testing. Lukes age equivalent did not change for gross motor and visual perception in 2.5 years. When he was 3 his expressive and receptive language were between 24-27 months, now it is showing a less than 12 month age equivalent. His fine motor was estimated to be at 20 months at age 3, it is now estimated to be 15 months. That was just the Mullens test.

The Vineland Adaptive behavior scale assesses communication, daily living skills, socialization, and motor skills, in 2.5 years Luke’s scores are almost exactly the same, except for a decrease in communication.

Although I can see Luke daily, I was surprised by these assessments, I do not think they fully represent Luke’s capabilities. However, I watch him with my smaller nieces, I see him with peers his own age, I should not have been surprised with these tests. I realize that I am coming to the point where I am almost certain what his future will entail and what it will require from me and our family.

It is almost certain, that Luke will be a baby forever. He will require 1:1 care always. Luke used to play, he doesn’t do that as much anymore. If I allowed him, he would watch the same movies, read the same books, and eat all day long. He thrives in school, he thrives with structure. He will require an atmosphere that will challenge him and help him learn new things always. I have gone through many phases in the past 3 years. When he was younger there was denial, “certainly, that will not be my child”, I still feel that way sometimes, then there is hope, “I will find a way to make him have a normal life’, now I teeter between, hope, acceptance, and lets go with anger.

I fiercely hope, that Luke will benefit from some of the treatments that are on the horizon for PMS. I pray he is not too old to get treatment and increase his quality of life. I am so angry that he has to go through this and he was robbed of the life he deserves. Also, I am starting to accept that what I truly need to do is ensure that Luke has a place to continue to go to when he is older, but still in a child’s mind, that will give him joy and challenge him.

I started Locals Phor Luke as a way to help Luke get the best care there is, raise awareness for PMS, and secure his future. Those are still my goals, now there is a new goal. The area that we live in needs a place for special needs adults to go and thrive. I need to find a good place, or I need to help make one.

I will continue to network, to fundraise, to raise awareness, and I will make sure Luke has a place to go where he can live a life of joy, no matter what his circumstances may be. So if you have the same goals as me, I’m here to make a team, contact me. Keep a look out on social media for our next event!

Until next time,

Courtney💚