NAVIGATING THE WATERS OF PHELAN MCDERMID SYNDROME
Darus, much like his mom, is a limit tester.
He has a hard time understanding safety and boundaries. In this particular video, he wanted to go further down the beach, where there were rocks. I didn't want him to hurt himself. He has little concept of danger.
Uploaded by RaisingDarus on 2015-09-23.
So. The basketball hoop across the street from us was broken today (out of order). Darus, however, sniffs out b-ball whenever possible. The (big) kids next door were playing it in their pool. Darus wanted so badly to join. ... Maybe next time.
Darus' morning started like most Monday mornings -- on the porch, waiting/watching for the garbage trucks! In addition to one of his favorite pastimes, he was treated with opening a present!
We flew, as a family, for the first time in 2.5 years. Darus traveled a lot when he was younger, but ever since he's been mobile, it's been quite challenging to contain him on a plane. Also, most people just do not understand Darus' inabilities to attend and/or pay attention. We're constantly given looks and stares of, "why can you not control your child?", which can be quite discouraging.
Darus has made a lot of progress though this past year and we were willing to try again, and I'm glad we did! We had a really wonderful time visiting my family and friends in Wisconsin and Michigan.
I'm also very thankful to Love that Max for her helpful post regarding airline hotlines to specifically help/cater to people with disabilities. Thank you @Delta for making our trip as smooth as possible!
I've written about it before, but I'll write about it again. Darus' school is amazing. We are so very fortunate to have this incredible resource right here, so close to us! Darus has learned so very much and he is loved so very much. What more could a parent want? Below is a note that came home from his speech therapist today. And pictures as well!
Hello!
Here are some pictures of playtime with Darus today! First he took his
turn with the Jellyfish Jammers, then we visited the potty before
going to play in the room!
Darus loved the Henry the Octopus song! He watched Jellyfish Jammer
demonstrate and loved watching his friend Max dance. He pointed to the
speaker and smiled saying, “song”. After watching two friends dance
and hide, Darus was ready to take his turn. He was organized in going
to the stations in order. He went straight to the dress-up station #1
to get his tentacles and cap. Then he went straight to #2 to stand on
his spot. When the music began, Darus danced and smiled next to his
partner! When he stopped, he continued again when we cued him to
“Dance!” The lights went off and Darus went with Jellyfish Jammer to
hide. He smiled big when he popped out from behind the rock!
After his turn Darus came to the room to play. He loved going into the
ocean cave with the dolphin, fish, and crab puppet. To prepare for the
fishing pole game, two of the fish were placed in the tent for Darus
to open and see what was inside their mouths! He found the gummy worm
wrapped in foil and unwrapped it. He really enjoyed eating it and
feeding some of it to the fish puppet!
Enjoy the pictures!
Our journey into genetics started w/ Dr. Barbara Crandall at UCLA. She is a wonderfully compassionate and gifted doctor and her staff is just as brilliant, but she was not familiar with PMS. Which isn’t uncommon. With only 1,500 documented cases in the world, there aren’t many doctors that have heard of it. There happens to be another doctor at UCLA, though, who does have experience with PMS, Dr. Julian Martinez. We had the pleasure of meeting him today. He was very kind and took his time with me. His wonderful assistant, Andrea, contacted me prior to the appointment to see if I had any questions, which was very useful to help prepare us all for the appointment today. After the initial physical exam, Darus and our wonderful caregiver, L, were able to leave the appointment and I stayed to have my questions answered. Dr. Martinez taught me/confirmed the following, in no particular order:
Overall, the appointment went really well. And I feel as though we’re in good hands with our vast team of doctors and professionals helping us!
We’ve tried it all. We’ve tried Nutravita supplements, neurofeedback, TCM, acupuncture, herbal tinctures, fish oil, methylcobalamin, 5-HTP, gaba (gamma-aminobutyric acid), lavender oil, frankincense oil, vitamins, probiotics, massage, etc. While I cannot say that these things haven’t helped – nothing has permanently alleviated any of the symptoms of Darus’ condition.
I’ve yet to find an alternative treatment that will help Darus ‘find his words’ and was in fact told, by his former psychiatrist, that there are no bio-medical ways to increase language abilities. His language is developing and continues to evolve – but at a snail’s pace.
I’ve yet to find an alternative treatment that will curb Darus of his impulsive behaviors. Prior to trying guanfacine, we tried Focalin & Adderall. Neither of these drugs worked the way they were intended to work. I believe that the guanfacine (which is typically prescribed as a blood-pressure reducing medication) has helped slow him down and has helped to regulate him, but we never found anything via holistic medicine that worked longer than a few minutes/hours.
I’ve yet to find an alternative treatment that will address Darus’ OCD and anxiety issues. We’ve tried Zoloft, but it was not a good fit for Darus.
Well-intentioned friends and family members have all tried to help. Everyone thinks that they have a cure. Unfortunately, at this moment in time, I do not believe that a cure exists. I am hopeful that someday one will.
Jonas and I took Darus to the Redondo Beach Pier this morning. He had a blast at the fish market and the arcade, of course. While perusing the fish market, he found an ATM (buttons!!!) -- surprise, surprise. Since nobody was needing to use it, I let him play with it. He had so much fun pushing the buttons, and eventually, actually opened up the machine! A couple that was sitting nearby seemed to be amused watching him. I shared one of Darus' business cards with them. She sent me an email later in the day, which melted my heart and reminded me just how special he is!
This morning we saw Darus’ neurologist, who also manages his medication. In addition to discussing his overall well-being, I also mentioned that the Standard of Care, published in October 2014, suggests an MRI and asked for her thoughts on this. She told me that it’s possible that Darus might have some malformations/anomalies of the brain, but even if he did, there’s nothing they would do about it and his course of treatment would not change. She further stated that because Darus has a mutation, not a deletion, she doubts anything is anatomically wrong with his brain and believes if there were anything glaring (tumor or growth) that the EEG we did in October 2014 would have clued us into it. She reminded me that even neurotypical people can have differences in their brain, so the test is unlikely to yield us any practical results. For now, I believe, we will put this test on hold, but it is something that I think we will eventually need to tackle.
Medication Update:
Darus is 4.75 years old. He’s 48 inches tall and 55 pounds. He has been taking 2 milligrams of guanfacine, one in the morning, and one in the evening, for the past 6 months (prior to that it was 1.5 mgs/day). Additionally, in April of 2015, he started taking 0.5 milligram of Abilify/daily, in the morning. The doctor requested that we increase his Abilify does to 1 mg/day. We started today by giving him 0.5 in the morning and 0.5 in the evening.
I wouldn't doubt if I've already labeled another post with this title. It seems to be an on-going theme.
Darus has had the privilege and honor of being with the same beloved Occupational Therapist (OT) since he was 2 years old. I received the news tonight that she thinks he has outgrown the gym that she has available to serve him with and it's time for him to move onward and upward to a new gym. While my friend D wisely tried to tell me this isn't a bad thing, I cannot help but to be sad. Sad for myself, as the facility was so convenient and I really trusted and cared for the OT. Sad for Darus as this is all he's known.
And, frankly, just sad ... similarly to how I was sad when Darus was graduating from UCLA's ECPHP program. I did not feel like celebrating anything. It was more like a funeral. It takes so much to get your kid into a program and you become some vested in it and everything about it and know how difficult - if not impossible - it will be to replicate the program on your own. It's just tough. That's all.
