Late Onset Limbo

I recall very vividly the moment they had confirmed that my daughter had Late Onset Pompe Disease. We had prayed incessantly for days that it was late instead of infantile onset. That diagnosis gave us time. (Or so we thought.)

The spectrum aspect of this particular disease is a thief. In many cases, families received a late onset diagnosis only to be told only months later that their time has come. They are faced with the reality that progression is occurring too rapidly and treatment must be started to slow that progression.

It’s been described to feel like betrayal.

The verbiage gives a false sense of time and security, and learning that this is not the case feels like someone pulled the rug from beneath you. Many find themselves in denial.

The time they thought they had dissolves and their lives encounter a pivotal moment. Sometimes they must quit working to devote time to care. Sometimes they are driving 5+ hours a week for treatment. While other mothers are posting their babies crawling and taking first steps, they are updating friends on port surgeries, chemo drugs and counting the infusions.

These families find themselves in limbo, relating to both the late onset side as well as the infantile onset side and that middle ground only confirms one thing:

Nothing is certain here.

Your fears surrounding this circumstance can be just around the corner.

We are all holding our breaths in anticipation.

They do describe some positives. They admit that the initiation process of ERT is not as hard as they had feared. They also note that their children are still at such a resilient age so they are grateful they won’t know any different as they grow older. A life of appointments and weekly/biweekly infusions is all they know and they won’t remember any different. They are also encouraged to see that their children either catch up on late milestones or never get behind on them at all after beginning treatment.

Moral of the story: late only means “not immediate” in the case of Pompe Disease. While starting treatment sooner than anticipated is difficult, you’re not alone and there are positive moments as well. While you may feels robbed of the time that diagnosis seemed to promise, you are not lacking in community and hope.

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