Stirring the Pot

I've found over the last year and a half - yes, can you believe it? - in three short days, well almost 2 now - it will be exactly 18 months since Xander so unexpectedly came into our lives. He has given us so much to be thankful for and allowed us to meet so many wonderful people that we never would have crossed paths with otherwise. We will forever be indebted to him for the lessons he has taught us and I can't even fathom what the future holds, but I know it will continue to surprise and inspire us all.

Now, back to my point: 

As I was saying, over the last year and a half, I've noticed that my actions have been like the ebb and flow of the tide. There have been periods of time where I've sat back and let referrals, therapist appointments, specialist follow-ups, and tests for this or that come and go as slowly as the medical community sloths them along. Inevitably, I get fed up with the lack of progress and the slow pace and I jump in and take charge. 

I'm not ashamed to admit to either action. I think there are times where I need to step back and take a break from the constant list of phone calls, follow-ups, and trying to move referrals a little faster and get processes stream-lined. It's more of a defense mechanism for my own sanity and to remind myself that there is so many more important things to attend to. My two amazing boys being pretty high on that priority list. After all, what good does it do them if I spend all of my time advocating for them and no actual quality time with them? So, I take breaks, I sit back, and I wait for things to happen. 

And wait...

Still waiting - yeah, you get it.

Then there are the times where I decide that I've rested, recharged, and I'm ready to stir the pot. 

Today was just the day for that. 

I decided that after leaving a message two weeks ago and still not hearing back to schedule an appointment with a new geneticist, since our first one didn't even take the time to educate himself on his own report when we went to our follow-up appointment 2 months later. (Sorry, still annoyed at that one) that I would do more than leave another message. And, since I can't seem to get anywhere with our insurance company in regards to the complete genome sequencing that has been requested, then maybe I need to head in another direction. 

So, today was a day of research. I searched and applied for studies that I might be able to get Xander enrolled in, which will provide sequencing and testing. I requested information from the RARE disease organization about studies and funding for testing. I researched the cost of specific testing that would confirm our suspected MWS diagnosis and where I could get them done. And finally, I decided to go directly to the top - aka the founders of MWS with my questions and see if they would have any advice for who I should see in the Bay Area and what I should do next. 

Yep, it was a stirring the pot kind of day. And I'm happy to report that the reason I'm still awake and writing this blog tonight is because Dr. Wilson, as in Mowat-Wilson, was the first to respond to all of my inquiries.

I had attached photos of Xander in my e-mail describing my frustration and dilemma in pursuit of a definitive diagnosis. I was asking her for recommendations of colleagues she has in the San Francisco area that are familiar with MWS as well as testing information. 

Her opening statement to me is "I am absolutely sure that your son, Alexander, has MWS..." 

THANK YOU 

Although I've been sure of this for a few months now, it is so nice hearing it from none other than the founder of the syndrome that I'm not crazy! 

You have no idea how many doctors I have seen and told them we have a pending diagnosis of MWS, they ask for more information and when I tell them how rare it is, only 250 cases worldwide, they look at me like I've been smoking something that's not legal... if you know what I mean. 

It's extremely frustrating to know more than the specialists that are supposed to be helping to diagnose your child - so, tonight's affirmation was just what I needed. I'm so extremely humbled and honored that Dr. Wilson took time out of her busy schedule to respond to my e-mail, not only to confirm my belief, but also to recommend a local geneticist that is familiar with MWS and to tell me specifically what tests I should push for. 

This validation was just what I needed today

I could feel us falling into a lull and that's another reason I decided to jump back into action. I know myself and lulls are never good. That's when the emotional roller-coaster of having a special needs child really takes off and you feel as though everything is out of your control. It happens so fast and I've been in such a great place for quite awhile now, I wasn't ready to jump back on that coaster and ride it down the next hill. 

Thanks to Dr. Wilson, I think I can put that ride off for a little longer. I now feel like I have someone on my side and the next time a specialist of some sort or another gives me one of those looks, I'll show them the e-mail from the founder of the syndrome that certifies my "crazy talk". 

Now, on to fight another day, that is after I get some sleep... Goodnight everyone