The hardest thing about turning 40 last week was knowing that if I die in my 80s, I only have 40 more years with my son. Doesn’t seem like a long time since time is flashing right before my eyes. I often say “where did the year go?” It is equally as hard to think that if I live until 80, Sam will be my age when he looses me. It makes me sad to know that he will live in a world that might not understand or accept him, and he won’t have the love of his mother to protect and guide him. As my husband and I prepare to meet with an attorney this week to create a special needs trust, my anxiety level is sky high as we will be asked to prepare for worse case scenarios in this meetings. Despite this rather depressing snapshot, I have so much to be thankful for….and this video is one of them. This was the first year that Sam really understands what celebrating a birthday was really about. He has come such a long way since starting early intervention and OT, PT and Speech that I feel like the luckiest mom in the world. So on this Mother’s Day, I am especially grateful for the little things in life as I watch my son reach milestones and overcome anxiety to embrace life and create new, fun memories that will last a lifetime.
Early intervention is important for children with autism, a developmental disorder that inhibits socialization. So be on the lookout for warning signs.
Sam does not easily dress himself without a lot of redirection and some assistance. Last week, when I walked into his room, he had already put his swimsuit on the right way and was putting on his shirt so I grabbed my phone cause I have never known him to get his clothes on by himself. Granted, he was highly motivated to find his swim shorts and shirt because he was going to the pool. You will see in the video that he notices his shirt is on backwards, which is amazing that he cares so he takes it off and then is frustrated that he can’t turn it inside out to put it back on. He says “where is the crab!!” I am surprised he didn’t call for me to help him, but he just decided to give up. He picks up the lotion which is when I had to stop recording or it would be everywhere!!! I was so proud of him to getting dressed on his own and since it was the first time for him, I had to record it. Hopefully it is the start of him dressing himself more without my assistance. When I was turning off my phone you will hear him say that he needed to go potty, which is another skill his has mastered that I AM SO THANKFUL for!!!
Two weeks ago, we returned to Vanderbilt Children’s Hospital to get some more blood work and receive a 7-day supply of AFQ056. The medication was a clear liquid and although Sam didn’t like the taste, he took it easily. The first night he was on the medication he could not fall asleep for about 4 hours, but his sleep was typical all the other days he was taking the medication. He had a bad cough and runny nose while he was taking the medication, which we were bummed about since he always gets out-of-sorts when he is sick.
However, after only 24 hours, he seemed a little calmer than normal. Sam is very hyperactive and has to keep his body or hands busy but each day he was taking AFQ056, he seemed less impulsive and less anxious. He wasn’t a different child or a chatty Cathy by any means, but he did say a few sentences that surprised us like: “I’m excited daddy” when we were getting dressed to go swimming. Usually when Sam is excited, he can only say “hi” like 10 times in a row to express his happiness. Nice that he could find the words to express how he is feeling. Makes us excited about the potential for AFQ056 for people living with Fragile X. God bless the researches and doctors who put so much time and energy to create a formula that addresses Fragile X symptoms.
The positive effects of the 7-day safety trail were subtle but very encouraging since the drug needs time to work its magic on the brain. Sam still struggled with communication from time to time but he certainly seemed more confident in many settings. One clear improvement while he was on the drug occurred when we went to pick Sam up from daycare. He usually is very anxious with this transition. He might yell, scream, lash out and just be overwhelmed from this experience. One day, when we went to pick him up while he was on AFQ056, he smiled and said “hi mommy and daddy.” He put his toys away and waited patiently for me to talk with his teacher. He said good-bye and thank you to his teacher as we left. NOT the usual departure for Sam but an example of change we saw while he was on AFQ056. My heart smiled.
Sam would also sit still for longer periods of time while taking AFQ056 and not roll around seeking input as much. I included a photo of us watching a movie in bed at the hotel that his dad took since it was amazing he was doing this. He quietly laid beside me and watched a show for 30 minutes content and relaxed. Something he rarely does.
We got some swim time in while at Vandy so I included a photo since this was Sam’s favorite part of the study.
Another key difference while he was on AFQ056 was that Sam was not eating at the pace and frequency he had been. I think AFQ056 regulates appetite and eating so Fragile X kids aren’t seeking comfort from food. He ate more like a typical 4-year-old.
Overall, we only saw a glimpse of what AFQ056 could do for Sam, but liked what we saw and pray that when open label is available to Sam in a few months, we will see the true potential of this medication. I am not naive to think that it will correct everything that Sam struggles with, but I am hopeful that if a few areas are better and more balanced in his brain, he will be a happier and a better-adjusted child to the environment.