- Fragile X-associated Disorders
- Treatment & Intervention
- Support the NFXF
As I contemplated the end of the Novartis trial I decided to list the accomplishments and changes that we have witnessed in our son, Dan, since its inception two years and nine months ago.
The first time we experienced a change in Dan was at his brother Bob’s wedding. Even though we practiced repeatedly, we expected, and we were accepting of, any mumbling of congratulations followed by looking away with his face leaning on his shoulder to escape any eye contact that Dan could muster. If that was the best he could do, we would all appreciate it. Our plan was for one of Bob’s best friends to introduce Dan and cover for him if he was unable to speak or even get out of his chair.
The moment arrived and Dan took the microphone in his hand and said, “I’ve got this!” He then introduced himself, saying, “Hi, I am Bob’s big brother. Welcome to the family Sonya, and congratulations!”
He said it in front of 200 people! He’d never even spoken in front of 10 people. Everyone, including us, was crying, and we didn’t even manage to take a picture. That was the beginning of the changes we saw in Dan due to the Novartis trial medication.
We now had an adult son that was filled with greater ability, but we needed to figure out how to empower him to use it. Over the past two years we have engaged Dan in counseling and speech therapy. He was never able to talk about his feelings or engage in much conversation. Now, he has had weekly half hour sessions where you can hear Dan chatting away and laughing in delight. He never would have benefited from this before because it would have been a one-way conversation with the therapist doing the majority of the talking.
Last year we also started speech therapy. We hadn’t attempted this since his high school years. He is working on language structure, as well as increasing his vocabulary, and using antonyms and synonyms.
One of the best and most exciting changes has been his ability to make friends. He now makes plans and meets friends to see a movie or to hang at the mall. I still take and pick him up, but I am happy to do it. I never thought there was a possibility of this happening at this time of his life and really didn’t have much hope for it to occur. He is now in a bowling league, and participates in planned group activities. Dan being able to answer the phone, and make plans to meet friends, is an extraordinary change. In addition, for each and every person he now engages and leaves with a smile on their face while walking his dog, we are so thrilled.
This medication was not a cure but anything that improved Dan’s ability is a miracle to us. I am so lucky to have had the opportunity to travel with Dan and make those 21 trips to Vanderbilt. I never thought we would see this in my lifetime, and as awful and disappointed as I feel that Novartis did not see the cognitive improvements we have experienced, I am grateful we had the opportunity to enhance Dan’s life. This medication did not improve his behavior or his hyperactivity so if that is the only criteria Novartis measured it is very sad. Something positive was triggered, but unfortunately the slow and steady progress was not what Novartis considered as part of its measurement process. I look back at how the many changes have been jump started and I pray that we do not see any regression when he comes off the medication.
As this part of our journey comes to an end, we must remember that tomorrow is promised to no one, so today is what we must be grateful for. For all family and friends that have discovered the new and improved Dan and shared his small but noticeable daily gains with us I say thank you!