Today is St. Patrick's Day. Two and a half years ago, I celebrated this day far differently. Today, and especially due to our certain circumstances all I can think and pray for is a cure. If you are new to this story, my son Luke is 4 years old. He had developmental delays and was physically weak when he was a baby. When he was 2 years old, he was diagnosed with Phelan-McDermid Symdrome, a rare genetic disorder due to an altered chromosome 22. Specifically Luke has a nonfunctional shank3 gene. This gene is responsible for the scaffolding of neuronal pathways. Without it, the pathways are brittle, making learning difficult and also changes the way your muscles, GI tract, brain, heart and kidneys all function.
Luke was diagnosed young. He is receiving experimental treatment to help brain development. It's a bandaid for now, in the hopes that gene therapy will be available in his near future. That possibility is more promising than ever. Jaguar gene therapy has announced that they have been approved for human clinical trials for shank3. This is amazing. They hope to start adults this year and if all goes well, children next year.
Like I said, this is amazing, but time is not on our side. Luke will almost be 6 by the time he could even possibly qualify for the study. He could see benefits, but the older you get the more developed your brain becomes. Timing is important.
Luke looks "normal". He is adorable, his speech is improving tremendously. He can speak purposefully at times. When we first found out about Luke, it was hard to tell something was wrong, but this is a disease you grow into. Your body ages but your mind does not. Every thing I feared from the moment I started researching PMS is slowly seeming not so far away.
In the beginning we were told we were "lucky" because Luke didn't have GI issues. Well he has now grown into that. Luke has to take MiraLAX and exlax daily, he has to do a colon cleanse about every 6 weeks, and this still can not help him be regular. Luke can only poop when he is asleep, his brain can not tell his body to relax enough to let him go when awake. He grew into that.
We recently moved. I was told that a possible regression or behavior changes can happen with big events or sicknesses. We were "lucky" again. However, since the move, Luke is having trouble sleeping. He seems to have manic episodes where he is exhausted but can't stop running, can't stop talking, can't regulate anything. This poor exhausted baby, he grew into that too.
The past 6 months have been some of the most stressful months of our lives. I am torn with such hope for gene therapy, and such fear that it will be too late for him.
My heart breaks for him and for our family. I don't want him to "grow into" anything else. That is not my reality though. I am devasted, for what his future could have been and how his quality of life, already seems to be slipping.
It has only been 6 months of this for us, many PMS parents have been dealing with this for a lifetime, their adult children have grown into this horrible thief of a disease.
Today is St. Patrick's Day. Today I wear my Phelan Lucky shirt. I wear it for awareness, I wear it for Luke and I pray to God that it helps. I need it to help speed up research, I need people to want a cure for this, I need people to be as invested as me.
I do not feel lucky this St. Patrick's day. I feel robbed. Luke is an innocent, affectionate, loving and smart little boy. Luke deserves better. It is more important than ever to advocate for him, that is what I intend to do. Someone told me when we first found out, you can grieve, but you can't stay there forever. Grief and fear are really trying to creep in. The hope I have for a cure must win. Even if we never get it, I can't give up.
This St. Patrick's day, head on over to PMSF.org and educate yourself. Check out localsphorluke.com for more of our story. Wear your Phelan Lucky shirts! Ask questions! Get ready for the golf tournament on October 5th! We are coming in hot this year. If all I can do to help my baby is spread awareness and advocate, than that is all I will do.
What I do feel lucky about, is being Luke's mom, no matter what happens, he has taught me more in the past 2.5 years than I could have learned in a lifetime without him. He is a blessing. He deserves more.
🧬💚People only care if they know. 💚🧬
🍀Happy St. Patrick's Day.🍀
One Desparate Mom,
Courtney 🤍
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