Road Less Traveled: Living With Gaucher’s Disease

Jul 24, 2018 | Patient Blog

“I was diagnosed with a very rare genetic disease when I was in my 30’s (I am now 78).”

There is a lot of hope that can be found in this one statement which was written by a PSI patient named Stuart. But often times, for those who face diagnosis of a rare disease, to get to this place of hope, it is a road less traveled, and one that will inevitably lead the patient to many places along the way where two roads diverge, if not many more.

Yet which one will make all the difference?

Stuart Was Diagnosed With Gaucher’s Disease

The rare disease that Stuart was diagnosed with is Gaucher’s disease (GD). The rare disease occurs in 1-50,000 to 100,000 people. Gaucher’s disease is an inherited disorder.

In his own words, Stuart shared with PSI what he learned about his diagnosis.

What Is Gaucher’s Disease?

“The disease is called Gaucher’s Disease (GD), after the French scientist who first identified it. People with GD lack a chemical critical to the body’s function. That chemical destroys cells in the body which harm the body in many ways.

For example, those cells cause the following problems: anemia, a lower red cell count, a reduction in platelet function which controls bleeding, an enlarged spleen and liver, bone and joint damage, and can also affect the function of other body organs as well.”

Gaucher’s Disease Diagnosis With No Cure

There is no cure for Gaucher disease. However, there are treatment options for types 1 and 3 of Gaucher by way of enzyme replacement therapy. Treatment is extremely costly. Sadly, there is no good treatment for the potential brain damage that can occur in types 2 and 3 of GD.

Stuart continues sharing his story,

“At the time I was diagnosed, there was no treatment and no cure for GD. My doctor could only monitor my condition as it worsened.

When I began to attend Gaucher patient support group meetings, many of the patients were on crutches, used canes, or were in wheel chairs because of bone and/or joint damage.

The type of GD which I have is Type 1, which is not neurological. There are two other types of GD called Types 2 & 3, which are neurological. Children with Types 2 & 3 are seriously affected because Types 2 & 3 damage the nerves and the brain.”

Hope For My Type 1 Gaucher’s Disease

Roughly twenty years after Stuart’s diagnosis, a breakthrough was discovered in treatment of GD, specifically with those with type 1 Gaucher disease.

“When I was 52, doctors at the NIH (National Institutes of Health) discovered a way to replace the missing enzyme in patients who had Type 1 GD with a new drug which was given to GD patients by infusion.

This drug was truly a miracle for me and patients like me–it gradually reversed the effects of my GD disease over the next 25 years.

As a result, my spleen and liver, which were greatly enlarged and adversely affected my bladder and other organs, have been reduced to close to normal size; my anemia is significantly improved; my low platelets, which cause bleeding that is difficult to stop, are twice as high as before; and the damage being done by GD to my bones and joints has been halted.

Several years ago, another new, very expensive drug in pill form was approved to treat GD as well. Since I was already doing well on the infused drug, which is a very expensive product that private insurance and then Medicare fortunately covered, I did not need to take the new pill form of treatment.

However, my story was not yet over.”

Gaucher’s Disease Can Lead To Other Diseases

For many within the rare disease community, diagnosis is merely a portal for the many other possible ailments and diseases that can take hold.

For them, the road to hope is a road less traveled. Stuart has traveled this road.

“It has been found that GD patients are more likely than the general population to get certain other diseases, including Multiple Myeloma (a blood cancer), Parkinson’s Disease, and Pulmonary Hypertension.

My Gaucher’s Disease specialist, who sees me every six months to follow the progress of my GD, noticed that one of the many blood tests taken from me every six months had showed an increase that could be a sign of Multiple Myeloma.

After discussions with a hematologist who specializes in Multiple Myeloma, both doctors thought that the only way to prevent further increases in this blood test would be to double my infusions from bi-weekly to weekly, and to start taking the pill form of treatment as well.”

Where Two Roads Diverge

With having to take both the infusion and now pills, as well as how it is administered meant an additional $300,000+ annual cost for the oral drug on top of the already, albeit covered by Medicare over $300k price tag of my infusions.

This meant that someway and somehow, Stuart, to stay alive, would need to come up with the difference.

“However, the oral drug is as expensive as is the infusions, but the pill is not covered by Medicare since it is not delivered to patients in a hospital. Since it is an oral drug, it is covered by the Medicare Rx program. Thus, I would have to pay for a substantial part of the cost for the pill.

Fortunately for me, I learned about PSI, and made an application to PSI for financial assistance to help cover the uninsured portion of the cost of the oral drug. That application was approved by PSI, for which I will always be grateful.

Without the help of PSI, I don’t know what I would have done to prevent the progression of Multiple Myeloma. PSI has literally saved my life!”

PSI: Paving Roads That Make All The Difference

The founder of Patient Services Incorporated shaped the very first non-profit patient assistance model in 1989. Dr. Dana Kuhn knows the pain firsthand of watching a loved one fight-and-lose their battle against chronic illness; he knows, too, the crippling financial burden often carried by those left behind. Since our inception in 1989, Patient Services has been a pioneer leading the charge to find solutions to the challenges that face the chronically ill in the United States.

What Type Of Assistance Does PSI Provide?

Patient Services, Inc. continues to provide peace of mind to patients living with specific chronic illnesses by providing financial assistance to eligible persons by:

  • 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

PSI may subsidize the cost of health insurance premiums for patients with specific chronic illnesses. Patients are required to meet medical and financial eligibility criteria.

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