Putting the X in XoXo

Steve and I were convinced that something more than just low tone was going on with Jack. When I would bring the subject up to his doctors, they would all tell me to wait…that time would tell. Oh sure, yeah, okay. I'll just wait out the tantrums and the anxiety. No biggie. Thanks. 

The only people that seemed to listen and agree with us were his therapists at Leaps and Bounds. They never directly asked us to do additional digging, but, in a very gentle manner, would ask if he had had genetic testing done. We didn't do any because, well, the professionals said we didn't need to. But right about this time, I really started to trust the people that spent 9 hours a week with him over the professionals that saw him maybe every 3-6 months for 10 minutes. So began the genetic testing process. It's just one little blood test.  Easy, right? Well, one would think that it would be easy, but I guess the fact that the people that could actually issue the order didn't think he needed it made it a little bit more tricky. The pediatrician recommend that I go through the neurologist. Okay, so I called the neurologist's office and I honestly could not believe all the push back I was getting from her nurse. "The doctor hasn't requested it," "it could cost thousands of dollars", "insurance won't cover it", "do you even know what type of test you want?" Seriously, lady! I could not believe this. I told her that I didn't care how much it would cost. I wanted the test done. He was my kid. I want the friggin TEST! And then the real hurdles came. The doctor would have to approve and request the test. Then insurance would have to approve it, and, THEN, they would send me to the lab to get his blood work done. You would think the entire process would take about a week, right? Wrong again. I am not going to bore you with the details of the endless hours I spent on the phone with this obnoxious nurse and the rest of the staff at the neurologist's office (21 days worth), but it all turned out to be absolutely unnecessary. In the end she admitted to me that all I needed to do was to take the doctor's order to the lab and that was it! No approval needed - nothing. More than 504 hours spent thinking and worrying about this ridiculous office and how to make them hurry up the process.   

On February 21, 2014, Jack's blood was drawn (super fun times) and sent into Quest diagnostics for analysis. He had two tests done. One for general genetic defects and the other to test specifically for Fragile X Syndrome. When I had mentioned to the doctors and therapist about his "panic attacks" this syndrome was thrown into the ring of conversation. I had no idea what it was and quickly did a Google search. You know how people tell you not to Google things because you will end up thinking some scratch on your arm is a flesh eating bacteria? Yeah, I really shouldn't have Googled it (side bar - the nurses at this fabulous neurologist's office could not answer any of my questions about the tests and actually told me TO Google it…Jack no longer goes there), but I did.  Fragile X - leading cause of mental disability and autism, sensory processing disorders, ADD, ADHD, extreme anxiety…the list goes on…Steve and I were officially freaked out.

On March 6, we got the results for the Micro Ray Chromosomal Test (the general genetic defect test) and everything came out normal…huge sigh of relief. One down, one to go!

March 14, the day before my birthday, was a Friday, so, as usual, we were heading over to our Friday play date. As I was driving to my friend Eve's house, I received a text from Steve. It read, "We have a meeting with Dr. Dyes on Monday at 3pm. Fragile X results in but Dr is only one who can interpret them and will do that on Monday morning." What? I tried to call him back to get the details but he was at work and I couldn't get a hold of him. I called my brother and just lost it…..how could they have the test and not tell us what it said. Why on earth would you tell us that you HAD the test?!? I had to call the office. I waited until the kids were all settled at Eve's and gave the ladies the low down. They were amazing and all told me to get on that phone and figure this thing out. I called the nurse and asked her if she had the results…she said she did, but that we would have to wait until Monday. "That is completely unacceptable. I need those results now." "Can't do it" she said, "what's three more days?" THREE MORE DAYS! What the hell was wrong with her?! I lost it. I started shaking; I started screaming into the phone telling her the hell that she had put me through the last 2 months! 2 months! 2 months I had been calm and cool, when I knew that I was going above and beyond to be patient and could have easily ripped her head off. But I hadn't, not until now. Enough was enough. "You will give me those results today and that is final. Do whatever the hell you have to do…just do it. Take a friggin picture of the results and text them to me. Fax them to my pediatrician if you need someone educated, unlike yourself, to read them. I realize that the neurologist could care less about my son and that he is just another number to you all…but I care. His pediatrician will care. How on earth could you be so cold?"

She told me that she would try and contact the neurologist and see what she could do. It was 4:30pm. The office closes at 5pm. I told her that if I didn't here back from her in 15 minutes, I would call back…Guess what? No call back. I was determined and would not take no for an answer, so I called back. She kept me on hold until 4:58pm and then answered the phone to tell me that she had faxed the results to the pediatrician but that her office was probably closed…thanks so very much you horrible, horrible woman. 

I quickly dialed Dr. Rowe's office, and sure enough the office was closed.  But I dialed 0 to reach the doctor on call and just prayed that someone in the office would hear my frantic message and call me back. 5:20pm…I got the call. I knew it without her having to say a word. I knew it, but I just had to hear it. "Mitzi, I wish I could tell you this in person, but I couldn't let you wait. The test is positive. Jack has Fragile X Syndrome." My heart was pounding and once again thousands of tears streamed down my cheeks. In an instant, I felt a strange relief - finally an answer. But, oh the pain. I didn't know what to say except, "Thank you. Thank you for calling me and telling me." She mentioned a million things: support groups, websites, research, the fact that he had the full mutation. I heard it all, but not really. I could only say, "Thank you"….and then I wept again….

 With that, our journey as a Fragile X family had begun. 

I am writing this now because July is Fragile X awareness month.  I know most of you have never heard of Fragile X before (we certainly hadn't), but I hope you keep reading our story to learn more about Fragile X and how Jack is showing us the true meaning of XoXo….