Tags
a future for bo, afutureforbo, ambrose, bo, fundraising, gm1, gm1 gangliosidosis, health, jeuvenile gm1, toddler
Ambrose is 3. We’ve had the name for his condition for nearly 6 months now. Before, we wanted more than anything to know what was wrong with our sweet, little man. Now, it seems that having a name is just a new form of torment. We have words to google, symptoms to watch for, regressions to chart. Having a diagnosis when there is no cure can feel like treading water while you watch your boat disappear off the horizon.
I apologize for starting our story so darkly. Our family is in a tired and sad place these days.
When we received Ambrose’s diagnosis in September our doctors told us there was no cure and no treatment. Within a week we had discovered that this wasn’t exactly true. No cure yes, but treatments were being used and with optimistic results. We read about Armand, a boy in the US on Miglustat and we knew that we needed to get Ambrose on this drug ASAP. It took a month to gather information and research, two more months to convince Ambrose’s paediatrician, a month to figure out insurance (amazingly our health plan covers 80% of this specialty medication, we’re still not certain if we’ll get funding for the remainder,) and we’re still stuck waiting. Waiting for our drug to be ordered, waiting for decisions to be made on what dose to give and how to administer it.
And, as we wait, Ambrose worsens.
He grew over an inch on Christmas break and walking became harder for him. Eating, even baby food, which has been our go-to is getting trickier. And, last week the day we have been dreading arrived. Ambrose had his first seizure, followed by 3 more in the coming week. It’s hard to watch your beautiful, little boy come out of a seizure looking so confused, exhausted and afraid and know that there isn’t much you can do to help him; all you can do is hold him, and wait.