We'd anticipated this trip since the week we got Damian's diagnosis.
First of all, I want to make it very clear that not one penny of funds raised from the #SaveDamian campaign was spent on this trip. While this trip was very important and a part of our journey towards treatment, it was not treatment in and of itself. Treatment of ASMD is what we're raising money for.
When Damian was diagnosed, I was quickly directed (by literally everyone I could find with experience with ASMD) to Dr. Melissa Wasserstein. She is, by far, the most experienced doctor with ASMD, having seen the most patients with it in the United States. I'm also happy to report that she is a human with a heart. We've had to see our fair share of doctors over the past year and Dr. Wasserstein definitely shines among the best. She is truly a kind person who I trust has my son's best interests at heart.
Dr. Wasserstein practices at the Children's Hospital at Montefiore (CHAM), located in The Bronx. We'd been able to do a video call with her shortly after Damian's diagnosis, and were quickly afterwards put in contact with her nutritionist as well as registered for her ASMD research study, which requires at least yearly in-person exams.
Most urgently, I scheduled this appointment when I did because I really wanted to know her professional opinion on getting Damian started on Enzyme Replacement Therapy and she needed to see Damian and really understand where he's at in order to give that.
Enzyme Replacement Therapy (ERT)
Those who follow me on Facebook or Instagram (@PleaseSaveDamian) know that ERT is one of three treatments that Damian potentially needs to survive ASMD. Our campaign is raising money to research and develop only two of them, because one - Enzyme Replacement Therapy - is already available and is currently being used to treat patients with the less-severe version of ASMD (also called Niemann-Pick Type B). Type B does not include neurological (brain) damage.
ERT successfully breaks down the Sphingomyelin build-up around the body, which in turn shrinks the enlarged liver and spleen down to normal size. It does not, however, have the ability to get into the brain. This is why Damian, who has Type A (includes progressive brain damage), would need ERT in addition to something specifically for the brain in order to treat the disease entirely.
What the Doctor Said About ERT
*Big breath* The appointment didn't go the way I wanted it to.
What I was hoping to hear was that Damian would really benefit from getting ERT, that it would overall improve his quality of life, and it potentially could bring back some skills that he's since lost. I was hoping to feel strongly confident that ERT is our next step and that it would do Damian a lot of good to start ASAP. To be fair, it is possible that those things could all be true, but instead of firm assurance, the direction I received was overwhelmingly cautionary.
ERT is always administered for the first little while in an ICU, for good reason: The infusion of enzymes could trigger an intense allergic reaction that could even be life-threatening. Because of that, they always start with a small dose at first and build their way up over a period of time to a full dose ("max dose"). But still, there is risk even in that first little dose. And according to Dr. Wasserstein, chances are fairly good that Damian's body would have a negative reaction.
I knew about the risks before our visit. I also knew that ERT is a big commitment, requiring infusions in the ICU every other week for at least the first few months.
And I know that Damian's neurological issues are by far the more pressing issue in his case. After all, most people would never think Damian's liver and spleen are enlarged. As Dr. Wasserstein examined Damian, she showed me how the liver and spleen are meant to be completely protected by the rib cage, but how Damian's are so enlarged that we could feel them far below his ribs in the lower part of his abdomen. She estimated that Damian's liver and spleen were 8-10 times the size they should be, but still: most of the patients who are recommended for ERT have livers and spleens closer to 30 times larger than normal and look like they've swallowed a basketball.
Of course I am incredibly grateful that Damian's liver and spleen aren't as bad as they could be! I just wish the best path forward for Damian wasn't so cloudy and up for Brock and I to determine. In the end, Dr. Wasserstein did confirm that Damian would need the ERT eventually if he were going to also be getting the other treatments. She also said that typically it's better to start treatments earlier rather than wait until the liver and spleen do get really bad. But she again stressed the risks associated with ERT and that it won't do Damian any good if he doesn't also get the other treatments.
I don't want to put any stress on Damian's body any sooner than we need to. And I really don't want to risk any severe trauma if it's true that the off-chance of a successful treatment may not even improve Damian's quality of life at this point. So it seems Brock and I have a lot of praying and talking with other parents to do before we make a decision. If nothing else, this appointment really impressed on me the sense of urgency for these other treatments to be developed (even more than I was already feeling)!!
Despite what I considered to be disheartening feedback, we did get some concrete next steps identified, the main one being that we need a doctor in California that is going to be Damian's "primary investigator." It's just not feasible to be flying out to New York all the time.
So Dr. Wasserstein and I will both be reaching out to 2 particular doctors we think could be right for the job of advocating for Damian from a medical perspective. Gratefully, Dr. Wasserstein offered to be a direct contact for me and to talk with Damian's doctors regularly.
Also, as part of Damian's formal exam, he had about 2 tbsp of blood drawn for a variety of bio-markers. I should be hearing the results of those tests soon.
Finally, Dr. Wasserstein will be (if she hasn't already) following up, again, with the pharmaceutical company that will potentially be agreeing to manufacture the small molecule treatment for the brain (otherwise being referred to as a FAAH inhibitor). Dr. Wasserstein said that because this drug was manufactured for one ASMD patient before, much of the leg work required before administering the drug (all the paper work and basically an instruction manual) is already completed, so she estimates that it could take as short as a couple months between the time the pharmaceutical company officially signs on and the time that Damian can actually get the treatment. I continue to hope and pray that those two months can start immediately, because Damian is getting continually weaker.
Fun Times in the Big Apple
I'm so grateful we had the opportunity to spend the next day sight-seeing in New York City before we left. The appointment at CHAM was long and the heaviness and urgent stress that came following it was a lot to carry. But on the flip-side, none of us had ever been to New York City and we very rarely get to be all together for more than a day at a time (Brock works multiple jobs and I don't think our family has ever been on a multi-day vacation just the three of us)! So we were determined to make as many good memories as we could while we were there.
We made a rule to not eat at the same place twice and we wanted to eat some "real" New York-style food: so that meant pizza on Mulberry Street, Eileen's Cheesecake, the best pastrami sandwiches ever at Katz' Deli, a vintage American diner and a classic counter-service cafe across from our hotel where we heard the strongest NY accents, and a street vendor called The Halal Guys where Brock tried his first falafel. Of course, we also had to try an ice cream place, so we also ate at Stuffed Ice Cream, where Brock got a "cruff" (ice-cream sandwiched inside of a donut)!
Amazingly, we got to see a lot on this quick trip, even with the crazy weather we had (extreme heat one day and torrential rain and lightening the next)! We were able to walk around Times Square, Central Park, 5th Avenue, Battery Park with a view of the Statue of Liberty, and the 9/11 Memorial. Damian's favorite thing was seeing the penguins at the Central Park Zoo! It was his first zoo experience and it made me want to take him to more of those kinds of places since he enjoyed it so much! I took a lot of videos and am working on a little recap of our trip - I'll post that on our YouTube channel soon! Our time in NYC may not have gone exactly how I hoped in some ways, but I'm so grateful for all the fun new memories we made together as a family. We'll have to do this again soon :) In the meantime, we will keep moving forward.
Please note that I am not a doctor - any mistakes I make in writing are unintentional and I will correct them as I am made aware of them.