Avery’s Hope: Vast Needs of a Rare Disease Family

My Story

It happened again — another line infection. As we walked into Avery’s hospital room we watched as our son held down our beautiful and beautifully rare grandson as the phlebotomist tried her hardest to draw blood. Our son, Josh, knew blood was not going to be taken that day or any day. It had to come from the Broviac itself. Avery has too much scar tissue to have blood drawn through a vein in his arm. But, Josh did what they wanted until Avery’s screams became just too much. Just like Josh wanted, the blood was taken from the line.

We’ve seen our son go from business owner to caregiver, to a really great father in the world.
Like a broken Japanese vase, our hearts are filled with gold, holding the broken parts together for our son and our grandson. Our son’s vase is broken too, but the gold that holds his together is solid and true. We watch as he gives Avery the most normal of lives. We watch as they run errands together, play puzzles and games and pretend to be various Thomas and Friends train persona. Then night comes, and the enormity of microvillus inclusion disease rears its head. TPN, lipids, SMOF, numerous medications, bolus feeds, leaks and messes. Let’s not forget the Narcan for all of the liver issues associated with TPN, the growth hormone shots and all of the vitamins.

That is what we see, but we’re sure there is more. The fear of sepsis and total liver failure is real. They worry about getting that phone call saying the transplant team has found organs for a potential three organ transplant. No part of it comes easy.

Our vase is not reconstructed quite as well. While we normalize our visits with the little boy who is our inspiration for all we do, we have the same worries with one added and huge worry — our own son. The financial hardships of rare disease are overwhelming and while we help the best we can, we cannot fix it. The fear and worry our son experiences daily, we cannot take away. When Avery has to have a particularly difficult procedure, we cannot take our son’s or our grandson’s fear and pain away.

So our hearts are filled with gold, but we are the grandparents, not the parents. We are a step removed. We are there for our son and grandson, emotionally, physically, and financially when we can. In truth, we wish there was someone there for us, at times. We fall apart too, but try not to show it to the two who need our heart the most. We don’t just worry about one; we worry about two. That is OK. We wish we could take all of the pain and fear away from our son and his child, but we can’t, and it feels like a failure. Our gold is not as strong as we would like. We cannot possibly do what is impossible to do.

With each crisis, we pick up the pieces and mend our hearts preparing for the next unfixable moment.
Avery has taught us to live life just like he does. He lives to the fullest enjoying each new wonderment with the awe only a 4-year-old can show. He makes us laugh and takes our hands to play hide and seek or see the ducks down at the pond. What he has really taught us is that the gold holding our hearts together is really hope, and there is plenty of it. That is what we must remember and hold tight. Vases can be fixed. There are a few scars along the way, but they hold up and can hold onto a bright future.

In Japan, they often mend vases with gold to show their beauty and history. We do the same with our hearts. It is that strength that enables us to see the underside of that vase. We can see that there are financial barriers, huge financial hurdles to jump over that all rare families face.

Both of Avery’s parents were gainfully employed at the time of his birth. Dad owned a restaurant and Mom and Dad together owned a hair salon where mom was the head stylist. There was no way that Avery was going to be attended to only by nurses and staff. One of them had to stay, wanted, and needed to stay. The choice wasn’t easy, but mom had the insurance and dad had at least some employees to cover for him in his absence. Just about 7 months of hospital stay was before them, but they didn’t know that yet. Ultimately, dad had to sell his portion of the business and now they were down to one salary and had a beautiful little boy with a very rare condition.

Finally, that first long hospital stay came to a close and Avery and dad were discharged from hospital beds, food, bright lights and noise. With a $5/day stipend for food, a good amount of money was spent to keep dad fed and nourished to some degree. While discharge went smoothly despite the frightening instructions and the images of what lay ahead, the next step was to retrieve the car and leave the hospital garage. Long hospital stays require long garage stays and hospital administration does everything in its power to lower costs. So instead of $16/day, the cost was $5/day. 7 months equals approximately 210 days times $5/day. Do the math! They haven’t even left the hospital yet.

Once the credit card was processed and the gate opened it was a 2 hour trip home with a stop for gas and a stop at the pharmacy. Besides the insurance paid medications, there were the suggested vitamins, the extra supply of diapers and wipes that a rare gi disease would require.. None of that is covered by insurance and was totally unexpected. That was just day 1.

And so a small all volunteer organization was formed to help those facing the same high cost of living with rare disease. This includes what insurance doesn’t include, what insurance denies and what becomes the many out-of-pocket expenses.

When Avery’s Hope was first forming, we grappled with what type of organization we would be. Would we be an organization that raised money for research in the hope that we could facilitate a cure? Would we be an organization that raised money for both research and for patient assistance or would we just focus on patient assistance and the immediate needs of those families “living rare.”

If we became a research based organization, we knew that we might not ever get a cure, let alone a treatment for symptoms. Did we want to leave a legacy of work to be continued beyond our existence? Avery’s Hope decided instead to become a patient assistance organization to help with the immediate needs of of out-of-pocket and insurance denied expenses and the often surprising costs of travel to and from medical appointments, hospital stays, loss of income and the like while all the while the rent, mortgage, cost of food, and more continues to climb.

Avery was only home a short time before the next hospitalization, the next needed test, the change in medication, the travel to yet another hospital for another opinion that included hotel stays and food costs. Avery is not alone. With approximately close to 8,000 rare diseases and 350 million patients world-wide, half of them children, we knew that the need was not only there but that need was a desperate one.

The unexpected costs of “living rare,” no matter what the diagnosis, never stops. With the COVID-19 pandemic still upon us, there are other considerations and situations. And, so, Avery’s Hope chose patient assistance. We won’t be the organization that worked hard to find a cure or a path to a cure, but we will be that organization that puts food on the table, pays for medications that insurance will not, and will get patient families to their next appointment.

Research is incredibly important and we wish we could be a part of that world as well. Instead we made the case for patient assistance in the hope that we could ease a rare patient family’s burden. And then another, and another.

The unfortunate truth is that patient assistance organizations, the small grassroots organizations made up entirely of volunteers, don’t often raise as much money as those that are funding research. We accept that and can only hope that donors and stakeholders will recognize the enormous patient need as well as the enormous need for research dollars, and consider writing some of those big checks to this side of the rare disease story. It’s really two sides of the very same broken, gold filled, vase. One cannot truly exist without the other.

Convincing and educating the public at large about immediate financial assistance while navigating the rare, ultra rare and undiagnosed journey is our biggest obstacle. Donating to a well known, very large charity that funds (or at least appears to in their marketing) for research is often where people put their charity dollars. Patient assistance, especially in those small charities, is often looked down upon as helping individuals does not help as many who could benefit from a cure. That would be true if we could be sure of a cure or a treatment in the very immediate future. For those stuck in the financial crisis of living rare, they may not have the benefit of a cure at all. However, they may benefit from transportation costs and lodging to see a team of specialists out of their immediate area. Families may benefit from a food stipend while spending time in the hospital with their child.

Helping to eliminate some of the financial burden offers both relief and Hope.