A few weeks ago, a kind soul reached out to me on Facebook.  She said,  “Jackie, I read your recent post on your blog about your son that insurance denied for HSP gene testing.  I just thought I’d let  you know that you can contact NIH also for HSP gene testing, and if your son is accepted to a study there, the testing will be free.  Dr. Craig Blackstone there is doing some research on HSP.  If you’d like, I can email you his contact info.  God bless you and your family.”

Well, God did indeed bless me and my family through a kind person who took a few minutes to reach out to me.  

After she emailed me, I did some searching and located Dr. Craig Blackstone online.  I sent off an email to him right away, hoping maybe something would come back to me in a few weeks’ time.  I said,

“Hello Dr. Blackstone,

A kind person passed your contact information on to me after reading my blog that is outlining the so far 2 year process of trying to diagnose my son, Trevor.   Trevor began showing signs of a muscle disorder around 4/5 years old.  He was first thought to have mild previously undetected CP, then Dopa Responsive Dystonia, then CMT, but all of those have been ruled out.  Our neuro suspects HSP.  We have been waiting since March with no luck on getting insurance approval.  Insurance is denying the testing on the basis that a diagnosis of HSP would not change Trevor’s course of treatment, so they deem it unnecessary.

I am told that you are currently researching HSP, and that you may be interested in seeing Trevor.  I would like nothing more than to more fully understand what is going on with my son. I have 4 children, so with a genetic disorder, I want to know as much as I can.  I sounds like you may be someone who truly understands this.

If you think Trevor may be someone you’d like to find out more about, please let me know.

Thank you.”

Within hours, I received a response from Dr. Blackstone that said he’d love to see Trevor.  He got me in touch with his genetic counselor, who sent me the paperwork to apply for a Neurogenetics Diagnostics study in Bethesda, MD at the National Institute of Health.  In less than a week, I had Trevor’s medical records sent off to them and a response from them notifying us that

Trevor qualifies. 

They said that it will be a full day of observation, examination, thorough family history, and that they would be doing a

full genetic panel.

This, if you’re not familiar with genetic testing and how it works, is. Awesome.  Our neuro told us that a full genetic panel is not only rarely done, it’s basically impossible to get insurance to approve it, and it’s very, very expensive.

 See, in most cases, genetic testing is done with a rifle-approach.   Set your target, aim carefully, and fire– a tiny bullet will hit with precision where you aimed your rifle.   But… if you didn’t point your rifle in exactly the right spot, you’re likely to miss what you were trying to shoot.    Doctors observe, examine, and study the patient, then decide which gene to target.  They spend months approving, scheduling, and waiting for results. But… if they aimed at the wrong gene, diagnosis remains elusive because, well, that’s not where the problem is.  So… you move on to the next gene that you suspect is the culprit.  Set up, aim, fire, hope you hit it… repeat. 

It.  
    Takes.  
              For.   
                    Ever. 

A full genetic panel is a sawed-off shotgun approach.   Aim in the general direction of your target, pull the trigger, and, tiny pellets explode out of the barrel, spraying a wide area with lots of little shots.   You’re bound to hit something.   Doctors can literally look at a person’s entire genetic makeup and identify all the abnormalities within, then examine each one to finally see what is responsible for the patient’s symptoms (if it is, in fact, a genetic issue).

I’ve heard this takes a long time to get results back.  I am already seeing that this will be an expensive trip to Maryland for the weekend.  I know that no matter what we will learn, this is not something that will go away.

 But we finally have hope

that we’ll finally have answers.

Maryland, here we come — Sept 8, 2014!

Written by jackie