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Is the end of the ERT drama in sight???

Hope you all had a fabulous Halloween (it was ONLY a week ago, can you believe it? So pardon me, but I'll be posting some fall photos throughout this post).


Damian (aka Baby Hercules!) sported his costume everywhere on Halloween - including therapy and the infusion center at the hospital (we went for a routine blood draw)!


Every time I go to the infusion center now, I can't help but remember that awful morning on August 1st when we were supposed to start the second of three treatments Damian needs to beat ASMD: Enzyme Replacement Therapy (ERT) - the treatment that takes care of the liver, the spleen (and as a result, the heavy vomiting issues) ... it pretty much solves everything BUT the brain issues. When the nurse came in that day, however, she had to be the messenger of some pretty infuriating news: Damian's doctor had not ordered the ERT drug and didn't even know how to order it (we learned hours later). A couple long discussions with the doctor that day was anything but encouraging, and I later wrote another email to the executives of the hospital, once again demanding we get a proper research coordinator assigned to help Damian's medical team navigate the incredibly bureaucratic world of experimental treatments.


I immediately got an onslaught of phone calls from different people from different departments asking me to please call them if I had any issues (by the way, I had contacted those people multiple times before going to the execs but to no avail, so I'm sorry I'm not sorry that I went to the only place that could light a fire under some people's feet).

I was informed that our doctor would be changing yet again - to one with supposedly more experience (this will be our 4th geneticist now, though the change previously was simply due to our doctor moving out of California). I was of course happy with a new doctor if that meant we'd have a doctor who knew how to take the appropriate actions and contact the right people to get things done efficiently, but unfortunately, I've been disappointed again. I'm not surprised at this point. I'm glad that I at least didn't wait to give them some space and the benefit of the doubt that they knew what they were doing. Instead I've been contacting the doctor and everyone else involved constantly to remind them of tasks that need to be completed and press them to commit to due dates. If I didn't, I can promise you without a shred of doubt that we would be making ZERO progress.


Still, it's incredibly frustrating to see how long this all has taken (this is not all the correspondence, just some key moments):


Aug 1 - The day we were supposed to start ERT, learned that it never got ordered

Aug 8 - I emailed the hospital execs after trying to get help from those directly involved with no luck

Aug 15 - We get a new doctor, she spends time "getting up to speed" on Damian's case

Aug 22 - New doctor says she has to call both the Brain 1.0 pharmaceutical company and the ERT pharmaceutical company to talk about starting Damian on ERT (but due to scheduling conflicts, it can't be scheduled until Sept. 7)

Aug 31 - ERT becomes an officially FDA-approved drug, meaning it is not considered experimental anymore and a doctor simply has to prescribe it and private insurance has to approve it. New doctor still wants to have a conversation with the pharmaceutical companies first


Sept 7 - New doctor has the call with Brain 1.0 pharmaceutical company where they all agree that Damian will not start ERT until April of 2023. I send the new doctor a LONG EMAIL when I hear that and schedule a call with her in her soonest available time, which wasn't until...

Sept 16 - I have a call with the new doctor and we agree on a task list and that Damian SHOULD start ERT no later than the end of November (30 days from the start of the Brain 1.0 "Phase 3") - first, the doctor needs to call back the Brain 1.0 pharmaceutical company and basically ask them to change their mind about Damian waiting til April to start ERT

Sept 21 - Damian goes to the ER for dehydration due to non-stop vomiting

Sept 21, 26, 29 - I reminded the new doctor to contact the Brain 1.0 pharmaceutical company to tell them we need to start ERT (every time, she responded that she would and hasn't forgotten)


Oct 4 - Doctor informs me that contacting the pharmaceutical company is now "high on her list"

Oct 17 - Damian chokes on his vomit at 2am and Brock miraculously wakes up on his own and was able to help him just in time

Oct 20 & 21 - Start "Phase 3" of Brain 1.0 treatment, with appointments at the hospital, so we see the doctor in person and she again says that contacting the pharmaceutical company is a high priority (she clearly doesn't know what "high priority" means). I commit her to calling them by the following work day and she agreed that if her preferred call couldn't be scheduled, she would email them instead, but she doesn't and ignores my emails and calls for days and then she leaves for a week-long conference (where she supposedly doesn't have access to her emails or a phone??). At that point, I call her assistant every day until she confirmed an appointment was made between the doctor and the pharmaceutical company.


Nov 1 - Damian's doctor FINALLY has the phone call with the pharmaceutical company

Nov 4 - After emailing and calling her every day multiple times throughout the week, I finally receive an email from Damian's doctor to recap how the call went Friday evening


OOF. It made me sick typing all of that out and now all the drama written on a timeline makes me even sicker. I HATE THIS ASPECT OF HEALTHCARE SO SO MUCHHHHH!!!!


* Happy Damian at the pumpkin patch break!*

So... how did the call go??


The call went fine!!! Just as I expected!! The folks at the Brain 1.0 pharmaceutical company have been very reasonable so far and just needed someone with "M.D." attached to their name to tell them that Damian needs ERT in order for them to change their mind. The conversation simply needed to happen and it certainly could have happened 2-1/2 months ago!! So frustrating!! (Of course, I'm also relieved that the call didn't go badly).


I'm grateful at least that we planned for ERT to start at the end of November anyway. But that only gives us a couple weeks now to get everything else squared away. We have to get the hospital and the ERT pharmaceutical company in agreement for what's required to be on this treatment (lots of blood draws, ultrasounds, etc.). We also have to have our private insurance agree to cover the cost (that's the catch when a treatment becomes FDA-approved - it's now on the insurance to cover it). And now that it's open-enrollment season, I have to make a new insurance plan change very quickly but very carefully so we don't run into even more speed bumps.


A lot to do in the next two weeks. Let's just hope we can get this all done before people start complaining that we shouldn't start a treatment during the hustle and bustle of the holidays. We are NOT pushing this off until January, so help me. Damian needed to start this treatment a year ago. LET'S GO.


I'll keep you updated!



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