We are glad to introduce our RARETalk guest Nancy Goldhamer. Read the following interview to find out more about her experience.
1) Hi Nancy, welcome to the RE(ACT) Community and thank you for your interest in sharing with us your experience. Can you introduce yourself to our readers?
Thank you so much for having me here. My name is Nancy Goldhamer. I am a board member of The International Susac Syndrome Foundation, and a survivor of Susac Syndrome. I had active disease from 2000-2008. My eyes were severely damaged and I lost some hearing in one ear. I am here as a survivor while many in my Susac Syndrome family have suffered irreversible brain damage and are disabled.
2) Which mission and goals have the International Susac Syndrome Foundation?
The primary goal of the ISSF is to educate the public, the medical community, and insurance companies about Susac Syndrome.
First of all, let's talk about what Susac Syndrome is. It is a rare autoimmune disease afflicting 400+ people worldwide. The triad is characterized by vision (retina) and hearing loss (cochlea) and encephalopathy (brain lesions mostly found in the corpus callosum). Secondary problems may include tinnitus, ataxia, speech problems, migraine-like headaches, incontinence, numbness, memory loss, psychosis.
The medical community needs to know the difference between Susac Syndrome and Multiple Sclerosis. Although Susac Syndrome and MS have similarities, there are many differences between the two including the location of brain lesions in the 2 diseases, and the fact that SS patients can also be affected by hearing loss. One doesn't have to have both symptoms in order to have the disease. That's where it gets tricky. I never had brain lesions. Diagnostic tests for the disease include MRIs with/without contrast, Fluoroscein Angiograms and audiographs. A spinal tap will not diagnose Susac Syndrome. Medications may include: steroids, Cellcept, Rituxin, IVIG and other chemo drugs. Blood thinners are not recommended.
Insurance companies need to know that IVIG and other treatments are NOT experimental medications. They are vital for Susac Syndrome patients. Delaying these treatments not only can cause undue financial stress but can also cause irreversible damage to the patient.
The public needs to know that they can reach out to others affected by Susac Syndrome/learn about the disease on the following platforms:
3) In your opinion, which is the hardest challenge for scientific research on rare and orphan diseases?
The hardest challenge for scientific research on rare and orphan diseases is finding funding to perform clinical studies and having a global database that connects patients, experts & scientists.
4) In which way you got in touch with the RE(ACT) Community?
I discovered the RE(ACT) Community through Rare Revolution Magazine is a digital magazine giving a voice to patients affected by RARE conditions and the charities that represent and support them.
5) What do you think about crowdfunding and knowledge sharing online platforms as tools to push rare disease research forward?
I support anything that educates the public about this unknown disease.
6) What have you learned from your personal experience that can help researchers and patients?
From my personal experience I have learned that:
1. It is difficult to fundraise for orphan diseases
2. Insurance companies often deny expensive medications.
3. Often doctors who know little about Susac Syndrome refuse to communicate with the experts.
4. I think that the ISSF should consider joining forces with another rare disease foundation. There is power in numbers.