I blinked and June was gone, so as we approach mid-July, I figured it was time to give an update. If you’ve been listening to Sip & Stim, you know a little bit about what’s been new in the lives of the Martins, but if you haven’t listened (which you should because we just finished season 1 and it’s a really informative podcast), here’s what’s new.

Roslynn graduated elementary school at the end of May, closing the chapter on her first experience with schooling, which began with homeschool for kindergarten (COVID and all), and ending 5th grade with the “Hawk Honor Award”. This award is given to a student who is exceptional in academics, extracurriculars, socially, and it is 100% based on their peers nominating and voting for them. Roslynn received this award and no doubt she deserved it. Every conference we attended, we were told how great she was academically and how far she has come, she has so many friends that she sees and speaks to often, and she won the outstanding 5th grade orchestra student of this year. Listening to the comments her peers wrote about her when she received her award at graduation was so sweet, Derek was in complete tears and I was beaming with a smile. We are so proud of our sweet baby girl.

Greyson ended his 4th grade school year on a positive note. He was making small but gradual progress in school, and was enjoying his In Home and Community Services (ICHS) program at home, where he goes out into the community and works on skills. Since school ended, he is receiving the ICHS services 4 days a week and Respite services 1-2 days a month. He went for his first sleepover away from us in late June, and it went really well. The Direct Support Person (DSP) that we hired for this program is Makia, and she also does his Respite care. We have known Makia for year and she was Greyson’s BCBA for about 4 years before becoming his DSP. I truly do not believe I would be surviving this summer without her help. She always has been such an important person in our lives, helping to get us through some really tough situations with school, services and life in general, but has always been an essential person to Greyson. I always joke and say he loves her more than me, but honestly, he is absolutely obsessed with her.

The heat wave of a summer has been fun so far. We have done lots of trips out to local arcades and indoor play places due to heat and the fact that Greyson has to stay out of the sun for a total of 4 weeks. Heat aggravates his seizures as is, but with his most recent port-wine stain (PWS) removal surgery, the doctors suggest no sunlight on his face for 2 weeks before and 2 weeks after surgery. I bet you’re thinking, “I thought he already had that removed?”. Well, yes, he did. But if you remember in previous posts about the port-wine stain, if you don’t keep up with occasional treatments, it could come back. And unfortunately, Greyson’s was coming back with a vengeance.

A few months ago we noticed that he was developing darker, almost purple raised spots on his face. The birthmark was already starting to darken due to not keeping up with the laser treatments, since G’s insurance didn’t cover the treatments at Hopkins anymore. So I looked into whether CHOP had a clinic that did laser removal too. We were prompted to the CHOP Vascular Anomaly Clinic (VAC), which referred us to dermatology to have the PWS removed again. Through the connection with the VAC, we saw another genetic counselor who suggested Greyson may have Mosaic Microcephaly Capillary Malformation Syndrome (Mic-Cap Syndrome). If you’ve read previous posts, you know this was ruled out years ago because he was found to only have 1 of the 2 genetic mutations needed to receive a Mic-Cap diagnosis.

Since seeing the doctors at Hopkins about 6 years ago, there has been a lot of research and development done with PWS and how they impact the capillaries in the body. Evidently, a person can have 1 mutation among their genes, and a 2nd mutation in the PWS itself. The way to diagnose the “Mosaic” part of the condition, is to take a biopsy of the PWS and test it for that second mutation. So, that’s what we did in Philadelphia this week. It will be a few weeks until we receive the results, but we are hoping that this can finally give us the answer we have been looking for. The term “Mosaic” is to define that the condition has some of the symptoms, and are pieced together, rather than him having all of the symptoms. A person with Mic-Cap syndrome has a very small head as the most prominent feature (microcephaly), which Greyson clearly does not have. He does however have multiple capillary malformations, intractable epilepsy, and profound developmental delays. So we will wait for the results and see what happens. It’s an extremely rare condition, but Greyson is no stranger to really rare conditions.

Alas, summer continues and the heat keeps on waving. We will keep on moving forward and working hard to better the services for Greyson. AND we will be celebrating his 10th year around the sun very soon with a big Star Wars themed birthday, since he LOVES Darth Vader. Stay tuned for photos and updates in August.