Right before the holidays, I gave each of Mark’s therapists a small gift of local handmade soaps as a token to thank them for their work with Mark. In one of the cards, to his speech therapist, I simply ended the card with “Thank you for believing in our son.” She emailed me later in the day to let me know how much our card meant to her, and I replied clarifying what I meant with a brief synopsis of where we started, which lead me to reflect on this past year, where we’ve come from, the friends we’ve met along the way and where we’re going.
At the beginning of the year, Mark was locked inside himself. He spent the majority of his days spinning in methodical circles on the floor of our dining room, typically fixated by a few particular knots in our hardwood floors. He would look out of the corner of his left eye, what his occupational therapist refers to as an ocular pull, and then suddenly begin to spin in the same dizzy direction until one of us on “spin patrol” would redirect him to another activity, only to return to spinning a few moments later. In addition, he would take a small ladder from one of the Little People sets and hold it up to the light, staring through the slats mesmerized. All stims. All maddening, all the time. Ike and I would lay awake at night as we listened to the methodical beat of his hands and knees hitting the crib mattress as he spun in circles at 3am.
A video of Mark spinning in December of 2014 is below.
Helpless doesn’t even begin to describe how we felt. I began feverishly reading books on sensory integration and familiarizing myself with the vestibular and proprioceptive systems. I took Mark to see a pediatric ENT at the University of Maryland after I internet diagnosed him with a vestibular disorder. Not surprisingly, I was wrong and this avenue was a dead end. I read a few biomed books and promptly started the diet, no gluten, casein or soy. During Mark’s Developmental Pediatrician appointment when we received the autism diagnosis, I inquired about integrative medicine physicians that specialize in treating autism. Met with an arched eyebrow, the doctor reluctantly gave me the information for Dr. Compart, an integrative medicine developmental pediatrician who sees patients in Columbia, MD. There would be a five month wait to see her, so I added his name to the list. I then took Mark to a local chiropractor to have him adjusted. Surprisingly this did result in less spinning, and within a week Mark, who had been on the cusp, began walking. The stims were very much still there, and some spinning remained. Determined, I read on, listened to podcasts, and added him to more wait lists.
Video of Mark walking for the first time in January 2015 – 20 months old
We received a call in February that Mark was being selected from the waitlist for Jump Start, which was a short term training program that helped parents begin to play with their children to elicit communication. We discovered during these sessions that Mark loved music and books! I began to find things that he enjoyed, other than spinning. More light was being let in and I was soaking it up.
In March, we added in aquatic therapy and ABA, and I could see even more small glimmers of what he enjoyed. One of the biggest challenges so far on this journey has been feeling like someone is missing in our family. Mark’s preferences, what he likes, his favorites, all eluded us, and my heart ached to know these things.
Then in April we received the call that there was a spot in the Early Achievements program at Kennedy Krieger! This is a four morning per week group speech program, which is the most intensive option KKI could offer us. We had to complete a screening to see if Mark would be a good fit for the group. We were filled with such hope.
And oddly enough, the very next day we participated on a conference call with one of the top officials at the Brain Treatment Center in California. Due to my Aunt’s connections in the medical field, she was able to arrange a call to discuss MRT treatments, a new brain treatment being used on autistic children, and adults impacted by PTSD. An offer was extended for us to travel to California to receive a trial of the treatments. The catch was that we had to leave within two weeks.
On mother’s day, Ike and Mark went on their big adventure. My uncle met them at LAX, and they embarked on a two week journey to see if this treatment would be our answer. Though Mark’s EEGs showed that he made some progress, the team felt that we should retry the treatment when he’s older due to the incredibly slow response.
Though feeling somewhat defeated that this gamble of a trip yielded very little results, we didn’t regret it, and vowed to move forward in search of answers for our boy. Mark was accepted into the Early Achievements program and we trudged on.
In June, Mark began the Play with Me program at Kennedy Krieger. This taught us how to provide sensory stimulation while we played. I learned that he loved to go down slides, and would run to me to have me throw him around. These parent training programs have been incredibly valuable tools to allow us to connect with Mark in his world.
In July, Mark began the Early Achievements program and cried every day for the first two weeks. I was terrified that they would determine that he was not a good fit. I made conversation with the other parents, whose children seemed to have an easier time adjusting. I felt isolated and sad. Was it worth the hour long drives to get him there? I just kept praying that his therapist wouldn’t see him as a lost cause. Then one day, he stopped crying and began happily going. And little by little his therapists began sharing what small gains they were seeing. Mark knew his name! He looked when they said “look!” and the biggest achievement of all was that he ran to us when we came to pick him up. Mark’s ability to reach for us when he needs us is what keeps me going.
To hear some Mark giggles, see the video linked below.
The weeks went on and I became close friends with one of the mothers in the group whose son was also diagnosed around the same time as Mark. Their family inspired me and continues to do so to this day. Their son is a rockstar and I admire all of the time and energy they put into him. Each time I am able to connect with her, I am fueled up to battle some more and find what works for Mark.
In July, I discovered that Mark had a tongue and lip tie. Hoping to eliminate another barrier from the speech equation I took him in for minor dental surgery to have it repaired. Out of all of the procedures, Mark has endured including adenoid removal, tubes, blood work, brain scans, this by far was the worst of them all. Watching him shake, red-faced and angry while we held him down to have very delicate areas of his mouth lasered was horrible.
In August, I received the phone call that would change everything. Sitting at my desk at HCC, our genetic counselor informed me that they had found the answer. Mark has a genetic mutation that is responsible for autistic behaviors. There was no prognosis, no details about what we could do to help, only that seizures were a very real, and scary possibility. And only one other patient at KKI has the same mutation. Mark’s future didn’t seem very bright given the grim comments like “there is a ceiling to Mark’s abilities” and “intellectual disability is a hallmark feature of the mutation”. Those points were like salt in the wound.
All of a sudden, a multitude of mixed emotions came over me. I was ripped away from my autism community that felt that recovery was possible and isolated in the land of rare genetic diseases. But God sent our friend Leah, and then Carla, and then Alex, who showed me hope through the aggressive research and fundraising that has been happening to secure a cure for this gene mutation. The FamilieSCN2a group has been a beacon of light for our family as we continue to understand Mark and his mixed bag of challenges.
Around this time, more of Mark’s labs started to return and we began to understand what was happening on a cellular level and what type of support was needed. One by one we began adding supplements to the daily routine and tweaking his foods to discourage texture aversion. After listening to a podcast on vision development and ASD, we saw a developmental optometrist and added in vision therapy which gave us play exercises to encourage Mark’s development through visual stimulation.
During our first play date with Ben, Leah’s son who also has SCN2A, Leah mentioned that their physical therapist did craniosacral therapy. I had been interested in this since meeting a new friend in the area whose son with ASD greatly benefited from it. We started in September and Mark has responded beautifully. He’s more present, aware, makes verbal attempts, and is more content in the car. Mark has been going twice weekly and we have slowly begun to see such beautiful progress. The last time we were there, Mark attempted to say a few letters of the alphabet while his therapist sang to him. And since this time, Mark will now mimic the “ga” sound when you say it.
A few weeks ago, my parents stopped by our house, and when Mark saw them he stopped what he was doing, ran to them, threw his little arms up, and embraced both of them. At that moment, the breast cancer our family is fighting, and the seemingly insurmountable obstacles we face seemed so small. Little by little, we are getting there, finding our way, and searching for the light.
This is the first time
There’s ever been you,
So I wonder what wonderful things
You will do…
Mark Timothy, we look forward to all of the wonderful things that you will do. May 2016 hold as many blessings and opportunities as 2015.