“On that day, after a life of apparent good health – I did not even take any prescription drugs – I became a person with a life-threatening chronic illness who would require substantial, ongoing medical care to stay alive.”
And just like that, life changed.
For many with a rare disease, it can take years to detect or for symptoms to progress to a place of diagnosis.
Diagnosed With Pompe Disease
For PSI patient Dorothy, she had just learned, at the age of 61, of her diagnosis of a rare genetic neuromuscular disorder called late-onset Pompe disease. This rare disease, which affects 1 in 40,000 people, is an inherited disorder which is caused by a complex sugar called glycogen that builds up in the body’s cells. As the glycogen accumulates in certain organs, tissues, and muscles, it then affects their ability to function properly.
Pompe (pom-PAY) can be life-threatening when the breathing and heart muscles are affected. Researchers have described this rare disease in three types which, along with late-onset, also includes classic-infantile onset and non-classic infantile onset.
What Is Late-Onset Pompe Disease?
In November of 2016, Dorothy was diagnosed with what is called late-onset Pompe disease which is generally not detected until after childhood up through adolescence and adulthood.
This form of the disease does tend to move slower and as for most, patients with late-onset Pompe disease will experience muscle weakness, especially in the legs and trunk progressively over time. This can also include the muscles that control the breathing which can then lead to respiratory failure.
There is no cure for this inherited disorder. But there has been some breakthrough with enzyme replacement therapy (ERT), which have shown to both extend lifespan with Pompe disease patients as well as improve quality of life.
The Impossible Feeling Of Affording Effective Treatment
By December of 2016, and just a month after Dorothy’s late-onset Pompe disease diagnosis, she began receiving treatment infusions every two weeks. Receiving these infusions are critical.
“But there is a catch – we must continue the infusions indefinitely. Forever. Stopping the infusions means resuming the inevitable progression of the disease, which ends in death.” Dorothy tells us.
Since beginning these treatments, they have shown to make a big difference in the quality of Dorothy’s life.
“I began receiving infusions in December of 2016 and they have made a miraculous difference for me. I walk, talk, move, sleep, and breathe better because of this treatment. On my 6-month check-up, doctors found my condition had improved a bit and stabilized, in contrast to the steady decline I was showing before treatment.” Dorothy says.
With quality of life dramatically improving with Dorothy’s health, the impossible feeling of affording this effective treatment begins to gather like dark storm clouds with no end in sight.
Like many with rare disease, breakthrough treatments come with a cost that inevitably place patients with seemingly impossible choices.
For Dorothy, this was her new reality.
“Pompe is an expensive disease. The estimated cost of my treatment, which is an orphan drug, per patient, is between $300,000 and $500,000 per year. I have other medical costs, too – visits with various specialists, tests, hospital costs, infusion center costs, sleep studies, medications for secondary problems (like pain, osteoporosis, and digestive problems), special diets and nutritional supplements, mechanical ventilators, and ambulation aids.”
The Catch-22 Of Rare Disease
This, coupled with the ongoing effects of the disease, which caused Dorothy significant fatigue, had begun to take a toll in other areas of life too. In this, it became a catch-22 in how to even afford to maintain treatment.
In her own words,
“At the same time that I am facing the staggering costs of treating Pompe disease, I have also encountered a loss in wages. I can work only part-time now, due to the symptoms of the disease (fatigue being a significant one) as well as the demands of treatment. Every other week,
I must give nearly an entire day to the infusion process. That is 26 lost work days a year.
The illness also presents a barrier to seeking full-time employment that might provide health insurance benefits. Even assuming there is a full-time position available to a 61-year-old woman, I have wondered about the ethics of applying for a full-time position with health insurance benefits, knowing that I would have to miss a large number of workdays per year and would be a heavy burden on an employer’s insurance program.”
Yet now, nearly two years after Dorothy’s diagnosis, how has she been able to overcome the impossible feeling of affording treatment for her Pompe disease?
Health Care Charities And The Safety Net They Provide
In March of 2018, Dorothy sat down to write a letter in light of recent government scrutiny of health care charities regarding the importance of PSI as a safety net. In her letter, she writes,
“Patient Services, Inc. helps seriously ill people like me pay for my insurance premiums. Without PSI’s help, my premiums would completely devour what I earn each year. I could not afford the costs of health insurance on my income. Without health insurance, I cannot afford treatment. The disease will progress and I will die. My life depends on being able to maintain health insurance.
PSI is a life saver.
With PSI’s premium assistance, I can support myself on my part-time income. Thus, I do not have to think about things like applying for disability, public assistance, or early Social Security retirement. I can keep working, doing work I enjoy. The assistance I receive from Patient Services helps me manage my expenses despite my diminished earnings, and thereby maintain my health and independence.”
At PSI, no words can describe how humbled we are for the opportunity to come alongside people like Dorothy and walk together through what seems like the impossible.
Have You Or Someone You Know Been Diagnosed With Pompe Disease?
Patient Services, Inc. continues to provide peace of mind to patients living with specific chronic illnesses by providing financial assistance to eligible persons by:
• Locating health insurance solutions
• Subsidizing the cost of health insurance premiums
• Providing pharmacy and treatment copayment assistance
• Assisting with Medicare Part D co-insurance
• Providing travel assistance for transportation reimbursement
• Assisting with the high cost of medical supplies and nursing services
In order to receive support, patients are required to meet medical and financial eligibility criteria.
Learn more about how you might qualify for support here.
What You Can Do To Let Charities Be Charitable
You can learn more about how you can help send a message to Let Charities Be Charitable by visiting our advocacy page here.