Stacey Feuer: Living with Gaucher Disease

Jun 17, 2014 by

An Interview with Stacey Feuer: Living with Gaucher Disease

Michael F. Shaughnessy –

1) Now when were you first correctly diagnosed with Gaucher Disease?

I was diagnosed with Gaucher Disease at 20 years old in September of 1997. In August of that year, I developed a slight pain in my right knee that became very severe over the course of a few weeks. After being misdiagnosed with a sports injury, I was admitted to the ER with excruciating pain, swelling, and a high fever. Over the next ten days, I was misdiagnosed with a staph infection as well as terminal leukemia. When the physicians performed a bone marrow biopsy to confirm the leukemia, a lab technician who was familiar with Gaucher made the correct diagnosis.

2) Could you tell our readers about some of the symptoms and how it impacts you?

The ongoing symptoms that have impacted me the most are chronic pain issues and fatigue. These issues stem from the underlying bone damage that was done prior to being diagnosed and treated, and which are irreversible. In addition to the pain and fatigue themselves, the unpredictability and uncertainty of short- and long-term daily life has been the most difficult issue to learn to deal with. Learning to balance activity and rest, and to manage exacerbations and remissions, is an ongoing process.

3) Prior to the correct diagnosis, what kinds of troubles did you have?

Prior to this episode and my diagnosis, I was generally very healthy and active. Upon learning about my diagnosis and its symptoms, it became clear that I had had symptoms my whole life that has been misdiagnosed or had gone undiagnosed. For example, I experienced abnormal fatigue, anemia, easy bruising and bleeding, and susceptibility to infections. These symptoms turned out to be caused by low red, white, and platelet blood counts. In addition, I had moderate, intermittent bone pain which was diagnosed as growing pains as a child. All of these symptoms were treated as separate issues and were not put together into a whole picture until the incident described above.

4) Now, in the schools- were they able to make the correct accommodations or modifications for you?

I am currently pursuing my doctorate in clinical psychology with a concentration in health psychology. My current rotation is at the Cleveland Clinic in Florida. Due to my experiences both personally and as a patient advocate over the last 15 years, my focus is on the psychosocial issues of adults living with chronic medical illnesses.

Returning to school as a full-time doctoral student has only been possible because of certain accommodations that have been made by professors and the school in general. Some professors have been very kind in working with the unpredictability of my pain and fatigue, as well as full-blown medical situations. Furthermore, the clinical training department has worked closely with me to secure appropriate rotation placements that would not require me to have long commutes. This has been essential to keeping up with all of my required coursework and commitments by helping to reserve my energy and pain levels as much as possible.

5) Let’s talk about Gaucher now- characteristics, causes, and your coping with it.

One of the most significant aspects of Gaucher is how it presents differently in each patient. Although there are common symptoms (as mentioned above), Type 1 Gaucher is an autosomal recessive genetic disease with more than 200 identified mutations. As a result, the disease may appear very differently in each person. As for myself, although I was generally healthy most of my life, I had significant irreversible bone damage by the time I was diagnosed at age 20. Because of this, I have continued to have serious medical issues due to my degenerative bone issues and pain. My experience highlights why early diagnosis and treatment are essential.

6) How has Gaucher impacted your relationships?

Having a chronic illness such as Gaucher has impacted my life and relationships in many ways. Many friends and even family members have had difficulty over the years understanding how this illness has impacted me. This is especially true because even at my sickest points I have always looked relatively healthy from the outside. It has also been a challenge until more recently to balance having a social life with the needs of my illness. As with any chronic illness that has exacerbations and remissions, Gaucher can make it difficult to make short- and long-term commitments with friends when your health may change from one day to the next. I have been very fortunate, however, to have some wonderful people in my life who have stuck with me through some very difficult times.

Print Friendly, PDF & Email

Leave a Reply

Your email address will not be published. Required fields are marked *

This site uses Akismet to reduce spam. Learn how your comment data is processed.