Tomorrow will be Ambrose’s third MRI in his short life. A procedure I’m lucky enough to say I haven’t needed as of yet in my not so short one. The first MRI was critical in helping the doctors to narrow in on his eventual diagnosis. The last one and the one tomorrow are just a way for them to track his regression. These are the procedures that help the doctors stuying GM1 but do nothing to help our son. It’s very hard to put Ambrose through these hard, sad moments knowing that they in no way change his future.
Why do we do it then?
Ambrose is on a drug that has proven to slow regressions for some patients with GM1. This drug, miglustat (or Zavesca,) is part of the synergy trial we enrolled Ambrose in. The trial involves keeping him in ketosis through a special diet and keeping him on the medication. Zavesca is not a cheap drug, even with 70% of it funded through emplyer benefits, the remaining 30% would cost the entirity of our combined monthly income. We’re lucky enough that Actelion – the makers of Zavesca support this clinic trial and are willing to cover the 30% remainder as long as we are part of it. Sadly for Ambrose, being part of it means running through tests every year that make him misserable.