Perspectives of The Pompe World

A rare disease diagnosis changes so much about life. Many families will describe feeling as if their life was flipped upside down and changed forever. Aside from the fear of the health outcomes of the diagnosis itself, the other major stressor is the financial aspect of this diagnosis.

It is inconceivably expensive to have a rare disease. The appointments, the tests, the procedures, the equipment, therapies, traveling to capable healthcare facilities, and the most costly—the treatment known as ERT.

Enzyme Replacement Therapy costs tens of thousands of dollars per infusion depending on the patients weight. Some patients receive this infusion weekly, and some biweekly. This causes a yearly cost of treatment to be over $600,000 per year, give or take. That is the price tag for a lifesaving treatment that is necessary for the survival of people with this disease, and that doesn’t include the other aspects of care mentioned beforehand.

For Pompe families, this means that healthcare navigates many aspects of our lives. Having insurance is non-negotiable and this new reality can often force shifts within family dynamics. Some families mention needing to change jobs to seek better insurance and pay to keep up with the medical costs. Some have to seek secondary insurance, or hope they can qualify for supplemental coverage such as Medicaid and Medicare. The burden of finding other financial opportunities (which vary by state) lies within these families, and some describe this amount of work as feeling like a part time job. This includes researching and combing the internet for opportunities, applying (and reapplying again and again), organizing records, making calls, and submitting endless personal information, all in the hopes that medical costs will not completely devastate their family.

For many families, they find themselves torn between their need to financially contribute, and their need to devote time to their child’s care. Infusions, appointments, and therapies can require so much time from caregivers that they are unable to work entirely, further increasing the pressure of finances. While work from home positions are sometimes an option, they can often come with a pay cut as well. This is a position that can feel impossible to navigate as parents feel the pressure of needing to be both a caregiver as well as a financial contributor—both are necessary for many families and the weight of it all is described as exhaustingly overwhelming.

Community and good will are often things that help these families make it by. It is hard for our families to accept this help but we often understand it is absolutely necessary and pride will only hurt our family in the long run. However, accepting this help comes with its own set of pressure, because these families feel as if accepting this help from others means they should not participate in other things that can be seen as luxurious. There is guilt that comes along with trying to take a family vacation or spending on something that is not an absolute necessity because anything outside of just survival no longer feels like it applies to our families who require help. This concept could be a whole other post in itself (and probably will be…).

Let us not forget that while some may feel like they are absolutely consumed by pressure, guilt, and overall stress of financial aspects of this disease, we also have to pretend we are not. It’s not comfortable to talk about this subject with outsiders and because we don’t want our children (or other diagnosed family member) to feel like a burden. The grief of the diagnosis alone is enough to navigate, but for rare disease families, the cost of the diagnosis is the true caller of shots.

It’s worth noting that not all families are financially affected in the same way. Some qualify for more help than others. Some families have a much more costly care plan than others. The less affected the pompe patient is, the less medical costs their family endures until the disease progresses. And as we know all too well well about Pompe, it will progress.

There are many programs in place to help with the financial burden of this disease and our families are forever grateful for these. We are grateful to every single person who contributes financially to our circumstance in anyway but we also want others to know that navigating this aspect of the diagnosis is not black and white. We are doing our best with the price tag we were assigned and we cannot dispute it because we love someone who relies on that debt to be paid. We don’t always get it right because there isn’t a clear “right” way for every family. We are budgeting, planning, saving, and reworking our lives in every way we know how, so that we can live as normally as we can, because at the end of the day that’s all we want for our families.

Thank you to these programs for the outpouring of compassion you have for the families affected by Pompe Disease. They raise money to lessen the burden of medical costs. If you feel moved to donate to the families I’ve written about, please consider these non-profits:

Ryker’s Foundation for Pompe http://rykersfoundation.org

Pompe Alliance http://PompeAlliance.com

Grant’s Giants Pompe Awareness Nonprofit http://grantsgiants.com

Pompe Warrior Foundation http://pompewarriorfoundation.com

Macie’s Mission http://maciesmission.org

The Assistance Fund http://tafcares.org

Accessia Health http://accessiahealth.org