Friday, February 22, 2013

Searching X

When our son was very first diagnosed with Fragile X Syndrome I was at a complete loss. Not only because of the fact that our son was going to have a future we had not planned for but our son had a future in Fragile X and we knew nothing about it.

My first contact with someone who had dealt with Fragile X was living a few states away in California. Tiffany was the first parent I talked to over the phone who could give me advice and relate to what I was feeling.

Soon after that I heard about the Fragile X Association of Utah. I was so excited to finally be part of something that would affect my entire life for the better. I soon joined in with the new leadership as the marketing, design and social media person and as a parent contact for my area. With this feeling of leadership I started on the road to finding a way to bring more awareness of Fragile X Syndrome to everyone around me and hoping to reach out to others who were affected by Fragile X in one way or another. I felt like I was hitting dead ends. I was excited to go to the M.I.N.D. institute in Sacramento, California. It was such and awesome research experience! Amazing! They were all so sweet and kind to both Brother and Sister and to us. It was a grueling, yet incredible experience. Being able to meet with the famous Dr. Randi Hagerman is something I wish every parent with children who have Fragile X could experience. I learned so much, but it was also so far from home and was financially taxing on us.

As I became more aware of all the clinics for Fragile X Syndrome and all the Fragile X leadership groups there were all over the nation and seeing them dotted all over the map, I began to realize how Utah was not on the map for much.

One Association in all of Utah, and at the time, I had only met 4 other families who were in the Association. The big picture of how much work needed to be done here in Utah really hit me. I felt like we would never be able to get anywhere with Awareness or Education if we sat here and just waited.

Fast forward 7 years and I am happy to say that finally the word about Fragile X Syndrome seems to be making a splash bigger than the small ripple that was started with a few newspaper articles.

Yesterday my family had the opportunity to help in the first ever study and research that is happening here in Utah!

I had been preparing the kids with about Dr. Reid Robison's and his assistant Chase's arrival, especially trying to help them understand that they would need to have some blood taken to help them in their research. This, of course, made them, the older two, very nervous--Baby was just dancing and going along for the ride.

When Chase and Dr. Robison first showed up at my door I got a flutter because I was so excited to see something I had been dreaming of beginning to bud into a reality. Oh, and, yes, you read that right, they arrived at our door! We didn't even have to take the kids out of their comfort zones, and that, in and of itself, was so helpful to my kids. I think that because of them being right in their own home they were able to do so much better on their IQ testing than they would have at a hospital or classroom.

Both Dr. Robison and Chase were so sweet and understanding with our kids and you could tell that they felt right at home with them and didn't even seem to notice anything "different" about them. In other words I felt like they were looking at them as the sweet little children they are and not just guinea pigs.

I think, so often when we think of research we are worried that our children are only the subject of a study and we tend to be nervous to volunteer them to be, what worry to be the lab rats.

This experience was nothing like this at all. There was lot of work on Dr. Robison's and Chase's parts to make friends with the kids and make them feel as comfortable as possible. They also made Marc and I feel better and more vested in the research by sitting down and talking to us about all the great things they have in mind to help those affected by Fragile X and those who are affected by Autism.

I was especially happy to hear Chase tell me that I was a big part of them being able to move forward for Fragile X.

I was also able to talk to Dr. Robison briefly about the seminar I want to arrange for this fall.

The tough side of all this was, exactly what you would have guessed, the blood draws for DNA purposes. Marc did great. I actually did well, considering I usually faint, but Chase did a great job. Baby had no idea what was happening and was just smiling at Elmo on Sesame Street until the needle went in. Then she cried until it was done, but then she was quickly consoled.

Sister was traumatized by the fact that she had been taken out of school early and was missing Library AND she was not sure what to expect from "blood being taken" from her.

Marc and I were amazed at her super human strength as we both held her to be able to get the needle in safely. That was where Chase's skills were truly put to the test and he stayed calm and kept praising her that she was doing so well... that made me laugh because I think I actually went deaf in my right here because of her screaming. I know, that makes me sound so cruel. I feel bad, really, even telling you that, but you just have to understand it is not necessarily the needle she is screaming about. It is all the anxiety of her schedule being different from the norm on a Thursday and the anxiety of the unknown. It is hard to calm anxiety that has been building up for hours. She was screaming long before the blood draw. She cried for about a half hour after the fact crying that they had taken her skin and she wanted it back, but was able to calmly collect herself to answer questions for her IQ testing with Dr. Robison. I was very proud of her.

Oh, and I forgot to mention that our dear, sweet Lindsey was there to help us. I am so glad I asked her to come help us out because we really needed her there to help with the other two while we were with the one getting blood taken.

My sister, Kirsten showed up during the terrible mayhem of Sister's blood draw experience and I think I may have traumatized her for life thinking that her sweet little Zac may act like that some day...

Brother had been taking his IQ test while all the rest of us were doing the blood thing so he was the last to have his blood drawn. In Brother's true character he was whining and complaining the entire time but was the bravest one of us all because he sat and watched the entire process! Amazing! I could never watch something like that without feeling faint, but he wanted to know exactly what was going on.

The best part of the whole day was after handshakes and smiles were exchanged and Dr. Robison and Chase were leaving that Brother hollered over the stair railing to them, "I want my blood back!"

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