Darus has been using this Body Sock at school and he loves it! We got him one for home, so he can be comfy and cozy here, too!
Cabrillo Marine Aquarium & Tide Pools
We used to be members at the Aquarium of the Pacific in Long Beach. It was fun, but Darus seemed more interested in the elevators, bathrooms & trashcans that he was in the fish. So, we found a more affordable alternative, the Cabrillo Marine Aquarium in San Pedro. The aquarium itself is maybe one-fifth the size of the Long Beach one, but the setting is stunning. It's at the southern most tip of the Santa Monica Bay, also known as Point Fermin. When we're really on our game, we will plan our visit around low tide, as Darus loves to climb over the rocks and explore all that there is to see. Additionally, there's a beach and a park. It's a really special place that our family loves to visit.
Fun with a Friend at the Redondo Pier
We took our friend A to play at the Redondo Pier. It was bittersweet. For me, I got to see what it would be like if Darus had a sibling. For her, she got to see what it was like to hang out w/ a special needs' child. It was a learning experience for us both, I believe, to say the least. The drive to the pier was about 20 minutes. It was a drive much different than I'm accustomed to, as I had actual back and forth communication. An 8 year old was asking me questions and I got to respond. I got to ask her questions, and she responded to me. How novel? When we got there, we parked and then we walked. We walked a lot. A was so intrigued by seeing the fish in the sea below us. We saw Garibaldis and minnows. We stopped into a shop, but quickly left, as it was filled w/ breakable trinkets that I knew Darus had potential to destroy in short order. We played at the arcade for about 10 minutes. I'm sure A would have stayed for much longer, had we been afforded the ability, but Darus wasn't having it. His body needed to keep moving. We walked along the pier, checked out the living seafood for sale and eventually back towards the car. We were going to eat dinner at Captain Kidd's, but they didn't have macaroni and cheese, so we headed back to the car to get dinner elsewhere. Again, I'm sure A would have loved to have explored more, but it just wasn't possible. I felt bad knowing this, but also felt like it was a learning experience for her. She's the older sister of 2 younger brothers, so her patience is in tact. She also has a very motherly and loving personality. We ended up at Island's - which was the perfect place for us. The kids shared the ipad and watched Dora together while we waited for our food. We even had a kid in the neighboring booth join in on the fun! After dinner, A asked for ice cream. I told her, "no, I'm sorry, not tonight". She really wanted ice cream. I didn't give in. It felt good to make that parenting decision and stick to it. As we got closer to home, A said to me, "I'm really tired, I'm glad we didn't stop for ice cream." All in all, it was a really special evening for us. I look forward to more outings like this.
Darus' Language Inventory
I'm often asked the question - does Darus talk? It's a tricky question. For background purposes and to hopefully help another parent that might be on this journey, I'm sharing what our experiences have been thus far.
Darus started EI (early intervention) services in January 2013. He was 2 years/4 months when he started. During the 8 months of EI services, he had speech 2x a week w/ someone that was vendored by the Regional Center. The person came to our house. I don't believe that these 8 months were that well spent, to be honest. I was really confused and in denial of my son's true needs, but I trudged along and accepted the services for what they were (and tried every kind of holistic thing I could find on the market for 'late talkers'). Additionally, around this time, he had a CMA (chromosome mircoarray) done, which came back normal. The geneticist wanted to do WES (whole exome sequencing), but our insurance refused. I fought, they denied. I appealed, they denied .... As his 3rd bday neared and there was still little to no improvement (and everyone telling me, "he'll talk when he's ready"), I started to get more concerned. Our pediatrician, at the time, didn't feel like it was autism. I ended up switching to a different doctor and got the Dx. Shortly thereafter we learned about UCLA's ECPHP and we were incredibly fortunate to get into the program and it was a great boost. While in the program, Darus had ST w/ with a talented therapist that did PROMPT with him. She really tried hard and Darus had some success with her.
When we left the program in December 2013, we started in-home ABA and also started a new school. During this time, I also took Darus to meet with many different speech therapists. Trying to find someone that could help him, that could work with our schedule and was in a location that wasn't too far from everything else was proving to be impossible. Needless to say, it was a very difficult and stressful time. By this time, we had spent thousands of dollars on private speech and we eventually felt like we needed to balance our budget/resources. We ended up relying on the speech therapist at Darus' new school. She helped us develop PECS and worked with that with him. She worked with him privately 2x/week and 1x/week in a group setting. As I type this -- was it the right thing to do? I don't know? I think so. The 'therapy' that he was getting that we were paying $150/hour for - was therapy that I could have done with him -- and I ended up doing just that. We had tons of flashcards/PECS. I would spend most of the time we had in the car doing flashcards with him. His language would come and go. Some days he'd say words for me, other days he wouldn't.
Darus' biggest challenge is his inability to attend to any task for any period of time. It's incredibly debilitating. His body needs to be in motion all the time ... except, when he's restrained -- like, when he was younger, it was his highchair. Now, it's his stroller (we have a special needs one - for bigger kids) and his carseat. When he's buckled into either of these, I believe his body can calm itself. I believe that his proprioceptive senses are met when he's restrained ... this is where we'd do our best 'speech therapy'. We did a 'speech camp' the summer of 2014, which, looking back, I don't think was very helpful. We also did Pediatric Minds in Torrance, and he had speech therapy there. The ST there really wanted him to start w/ AAC. Around this same time is when we got our results back from the WES and we learned that Darus had a Shank3 mutation - AKA Phelan McDermid Syndrome. My heart sank. I learned all I could about his condition - I'm still learning. It was at this time when we decided to leave the 'traditional' autism treatment route of ABA and we moved to SmartStart. Darus is still currently at SmartStart. He has his ST & OT at school. Smartstart is more about floortime/Greenspan ... rather than ABA. He currently receives speech at school 2x/week.
There's been a lot of acceptance and growing for me since getting his dx. Spending money and time on private speech therapy just doesn't seem to be the answer right now.
I can tell you - Darus' speech is starting to emerge and evolve, and it's exciting! I don't think it would be any greater by having add'l private ST. For us, it's more about finding a balance for his body that craves motion. Until we can really get him regulated (and we're trying so hard w/ different medications & therapies), expecting him to participate/cooperate in traditional ST will leave us all in tears ... it just isn't our path at the moment.
All that said, I have been working with an UCLA linguistics student and with his help, we've put together the attached speech sampling of Darus' current language inventory. I hope to grow on this and use this as a benchmark of where he is now compared to where he'll be in the future.
Phelan Lucky
Much thanks to all of the wonderful people in our lives that showed their support of Darus by purchasing and wearing Phelan Lucky tshirts! Here's a special story that happened to me today:
I was proudly sporting my Phelan Lucky tee this morning when I went into Starbucks to get my mobile order coffee. “Excuse me … excuse me … excuse me … “ … I realized the person was trying to get my attention. She approached me and said, “My friend’s child has Phelan McDermid Syndrome, she lives in San Francisco.” Tears sprang into my eyes as this lovely person, Beth, went on to ask me about my child and listened to me tell her my story. She mentioned how proud she was of our community and how amazing we all are with our movement to raise awareness. Words cannot describe my joy today! #phelanlucky
Swimming Lessons
Darus has been taking swimming lessons with a company called Leaps n Boundz - and it's been a great experience for him and our family. We've worked with a few different teachers through the company and they've all been great. We are fortunate to live in an area that has so many programs for children with special needs. Special thanks to Luana for not only taking these great photographs but for getting him to his lessons and ready with all of his gear!
Music Therapy
Thanks to one of the many online 'special needs mommy support groups' that I belong to I was introduced to The Children's Music Fund. I filled out a quick application online and within a month or two I was contacted by a local Music Therapist. I was a bit weary at first, given Darus' attention struggles. I wasn't sure how well it would go. We were assigned to an amazing gal, Ms. Jenna. She came out for our initial session and she was so nice, patient, calm and understanding. The lesson, unfortunately, ended with me in tears, as I felt so bad that my child was unable to sit still, pay attention and/or offer any appreciation for this giving person that had come to our house to work with him. I emailed her the next day to let her know that perhaps this wasn't the right time for Darus, that perhaps he just wasn't ready for music therapy. I felt bad mostly because I figured there might be another child out there that could really benefit from this therapy and I didn't see it as beneficial to Darus. I could not have been more wrong. Ms. Jenna gracefully replied to my email letting me know that she felt the session went well for Darus and even "the brief moments of interest in the music were beautiful moments". She further stressed that all that was necessary for success was that the two of them establish a relationship and work together to play music and whatever he is capable of doing is just perfect. She met him where he was - developmentally and physically. She provided him with a fun outlet for exploration and communication. She knew that his attention would only allow her so much time and she delicately balanced that boundary. We just 'graduated' from the program and it was definitely a success! Thank you Ms. Jenna for all that you've done to help expose our boy to music! Your perseverance & kindness were much appreciated!
Autism 'Reversed' ... in Mice
If they can do it in mice, when will they figure out how to do it in humans?
Autism 'Reversed' When Cellular Damage Caused By A Genetic Mutation Is Undone In Mice: Study
May 29, 2015 11:01 AM By Susan Scutti
When scientists reversed the cell-level damage caused by a Shank3 genetic mutation, they restored normal behavior in mice with the symptoms of autism.
About 84 percent of people with a Shank3 genetic mutation have an autism spectrum disorder. Now, researchers at SUNY Buffalo have pulled back the curtain to reveal the link between this risk factor and the neurodevelopmental disorder. In a new study using mice, they demonstrated the ways in which a Shank3 mutation can disrupt communication between neurons, which then leads to social deficits. More surprisingly, the scientists found they were able to restore normal behavior by simply reversing or cleaning up the cellular damage.
Dr. Zhen Yan, a professor at SUNY Buffalo School of Medicine and Biomedical Sciences and lead researcher, began the new study with mice bred to have a Shank3 mutation. Comparing these mice to wild mice, the scientists conducted various experiments, including a social interaction test.
For this test, the mice experience and respond to three phases of stimuli appearing in side-by-side chambers. In the first phase, they encounter two identical nonsocial stimuli; in the second phase, they encounter a nonsocial stimulus and a social stimulus (another mouse); and in the third phase, they encounter a familiar social stimulus and a new social stimulus. Meanwhile, the researchers record the rodents’ preferences for one stimulus over the other in each phase.
The mice with a Shank3 deficiency showed a drastically reduced interest in the social stimuli(other mice) compared to the inanimate objects. They also spent significantly more time inrepetitive self-grooming than the wild mice.
Investigating their brains, the researchers discovered the Shank3 deficiency plays a role in how neurons communicate.
Trail of Damage
Specifically, the Shank3 deficiency disrupts the activation of the NMDA (n-methyl-D-aspartate) receptor, which is crucial to learning and memory, at critical transmission sites in the brain. Going deeper, the researchers found this disruption is caused by the dysregulation of actin filaments in the brain’s prefrontal cortex. (The prefrontal cortex, which is implicated in autism, controls intense emotions, impulses, and so-called executive function.)
Numerous regulators control the normal processes of actin filaments, which to fulfill their function, assemble and disassemble continuously. When actin filament assembly is disrupted, cellular functions fall apart and cellular communication breaks down.
“[Shank3 deficiency] upsets the equilibrium of actin filament assembly, which, in turn, disrupts the normal delivery and maintenance of NMDA and other critical receptors,” Yan explained. This impacts the synapses, which are key to communication between individual cells, and this leads to autistic behavior.
In their final experiment with the mice, the researchers found a way to reverse the process. Returning the activity of some key regulators to normal, the research group found they were able to restore normal actin dynamics, and this resulted in normal functioning of NMDA receptors.
The ultimate result was the Shank3-deficient mice began to behave normally.
“This research is the first to show that, in animals, abnormal actin regulation causes autism-like behaviors," said Yan. "Once actin filaments and NMDA receptors returned to normal, we observed a robust and long-lasting rescue of the social interaction deficits and repetitive behavior in the Shank3-deficient mice.” Yan and her colleagues believe their results might someday lead to new drugs for treating autism.
Source: Duffney LJ, Zhong P, Wei J, et al. Autism-like Deficits in Shank3-Deficient Mice Are Rescued by Targeting Actin Regulators. Cell Reports. 2015.
The Holiday Note I'd Like to Mail to Everyone on My List
2015 has been hard. The toughest year of my life. It’s hard to always maintain optimism.
They say, “Don’t let the diagnosis define your child.”
Intellectually I understand this, but emotionally, it is nearly impossible.
We eased into the dx by accepting the fact that our child will likely always live with us. As long as we’re alive. That ‘fact’ has recently been challenged – at least in my mind. He is only five years old. And I’m only thirty-five years old, but there are days that I just don’t know how we’ll physically manage ONE. MORE. DAY.
We joke that it’s like Groundhog Day at our house. I guess we joke about it because if we don’t joke, we’d cry.
His inability to attend to any task is incredibly wearing and debilitating. His intellectual disability plays out at its toughest when he bites and/or pulls my hair. He does neither of these out of malice, but instead when he’s tired and/or excited. It’s senseless to punish him because he just doesn’t know any better.
His consistent need to chew/bite on non-edible objects (blankets, zippers, t-shirts, cabinet pulls, doorknobs) is concerning. “Out of your mouth, please,” thankfully, typically works, but only for him to put the object (or a different one) back into his mouth within seconds.
As he grows, he ages out of certain therapists and we have to get new ones, which is always a challenge. Finding the right one is a challenge. Finding one that takes insurance is a challenge. Getting pre-approval from the insurance company to cover the new therapist is a challenge, etc. And then you get to work w/ the new therapist and they all make the same well-meaning suggestions. As though I’ve not tried that?
Then there’s always the task of dealing with insurance to cover the medical bills, MediCal to cover the incontinence supplies and the Regional Center to help with respite hours.
Nothing is easy.
We took the plunge earlier this year (April) into big-gun anti-psychotic medications. Not because we wanted to, but because we were desperate to get help for our child. At the time we started Abilify – our son was four years old. FOUR. The medications all seem to have some honeymoon effect but eventually the child seems to adjust … and then you wonder if you should increase the medication or try something else?
He’s now in his 2nd year of potty-training and there’s no linear progress. Sometimes he’s interested, sometimes he’s not. Another frustration.
He’s still unable to feed himself any better than a 1 year old. Sure, he can shovel dry cereal into his mouth or dry pancakes or other ‘finger food’ – but there’s no such thing as him eating cereal with milk, French fries with ketchup, yogurt, toast with peanut butter, beans & rice – without him making a mess that will take twice as long to clean up vs. having just fed him yourself.
It’s nearly impossible to spend time with our neurotypical friends. Ummm, “No, he cannot sit down and do an art project (without me constantly helping/redirecting)”, and “no, he isn’t able to sit still to watch a movie, either.” It’s also depressing, to me, to see how different he is from his peers.
Special needs playdates are tough to coordinate because most of our kids are in so much therapy, our schedules never align. And if scheduling isn't the problem - then it's us moms that are all so, understandably, flaky and exhausted.
The idea of having any more children has slipped another year out of reach, which is another sadness. I wanted nothing more than to have taught values; appreciation, dedication, charity and purposefulness, to name a few, to my children. All concepts that, sadly, are currently lost upon my child (although we do try).
Life just isn’t fair. Which isn’t new to me. I get it. It’s just so much more unbalanced and difficult than I could have ever imagined. I keep trying to find reason and meaning, but it’s tough.
Thank you for taking the time to read. Thank you for allowing me to vent. I feel better. I think. We have no choice but to plow forward. And that, my friends, is what I’m going to do.
2016 -- Please be gentle.
Please don’t be as tough as 2015.
Please allow us to find an easier path.
Author Note – I fully understand and realize that my child is only five years old. And we can be very hopeful and encouraged that things will get easier as he grows and matures. We can also be hopeful that science will come around to a place that will be able to help him, and us, better manage his challenges. This note was written, however, as a means for me to communicate our current struggles.
Ice Cream Boy
This morning, after my shower, I found Darus helping himself to some ice cream! Just like with the mustard, he was clever. And as you'll see in this video, he was very sly. It was almost as if he didn't acknowledge me, maybe he'd be invisible?