Being diagnosed with cryoglobulinemia
Diane Dike, Ph.D.
Second Chance with Saving Grace (SCwSG) and the Cryoglobulinemia Vasculitis Organization (CVO)
As our rare disease focus continues, Diane Dike, Ph.D. shares the challenges of being diagnosed with a rare disease and speaks with a newly diagnosed cryoglobulinemia patient. The rise in online patient communities has made a great difference to patients with rare diseases and Diane speaks about the importance of unity when dealing with a diagnosis.
It can be lonely, scared and confusing being a patient diagnosed with a rare disease. In Europe, a disease is considered rare when it affects less than 1 in 2000 people and in the USA it’s rare when it affects fewer than 200,000 Americans. There are about 7,000+ rare diseases.
Cryoglobulinemia is so rare there are no statistics available on how many patients are affected.
The diagnosis of cryoglobulinemia depends on the presence of cryoglobulins in the blood and then searching for a possible underlying cause. The first cryoprecipitation phenomenon has been attributed to Wintrobe and Buell, who in 1933, described a patient with signs and symptoms of hyperviscosity associated with multiple myeloma. In 1947, the “cold precipitable serum globulin” was assigned the term “cryoglobulin”. Cryoglobulinemia is the presence of abnormal proteins in the blood. These abnormal proteins become thick or gel-like when exposed to cold temperatures and stress. Cryoglobulinemia as a form of vasculitis can cause damage and inflammation of the blood vessels, which includes the veins, arteries and capillaries, throughout the body.
Living with cryoglobulinemia today
It is not known why antibodies become solid in cryoglobulinemics. It's a difficult disease to overcome, but it is possible. While nothing seems off limits to the ravages of this disease, if you've been diagnosed with it learning to live with cryo requires four P’s: pampering, patience, prevention and practice. You must take care of yourself, both physically and mentally. Mentally there seems to be a pattern of acceptance and coping that is similar to the process of grieving.
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"It's a difficult disease to overcome, but it is possible."
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Patients tend to go through phases of disbelief, denial, anger, frustration, sadness, isolation, a sense of loss of self, fear, and acceptance. If you find yourself in one of these stages, you are in good company. Many have been where you are. There is no rule as to the length of time you need to work through a stage and you might re-enter a stage more than once. Dealing with any chronic illness will affect every area of your life, allow yourself to process the changes. Two years ago, upon losing my mother to Multiple Myeloma and my best friend two days later to Huntington’s Disease, a friend gave me good advice: "It's okay to be sad, just don't be sad too long."
Cryoglobulinemia is disabling for many patients, it can affect every part of your life. You may have cryo, but it doesn’t have to have you. With preparation, planning and teamwork with family and friends you can still have a high quality of life. However, if you are not careful, the chronic, progressive, degenerative, and frequently life-threatening aspects of the disease will haunt you. It’s not possible to live life as usual once cryo comes into your life. The fact that there are no consistently effective cures adds to the high level of pain and suffering endured by patients and their families.
How can pharma better support rare disease patients?
The lack of scientific knowledge and confusing, overlapping conditions often result in a delay in diagnosis. Appropriate quality healthcare is difficult to access in the treatment and care of cryo. I spoke with Ghodrat A. Siami, MD. Ph.D., who is a retired professor of medicine / nephrology and emeritus at the Vanderbilt School of Medicine. He told me he worked for three years with the FDA for approval of cryofiltration. “I have treated 49 patients with 1350 cryofiltration, double cryofiltration, tandem cryofiltration / hemodialysis.” He had great success. However, when it was time to go to the next level he couldn’t find any interested pharmaceutical companies because they did not think it worth their time or money with so few patients.
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"The lack of scientific knowledge and confusing, overlapping conditions often result in a delay in diagnosis."
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A wave of hope rising: the future for patients
Despite many setbacks and challenges rare disease patients and their families are experiencing enormous awareness and progress.
Connecting with a real person who has the same rare disease makes a massive difference, which is why the rise in online patient communities is so positive. One story which is a great example of this is when I met Trish Donohue. Trish is 70 years old and a retired marathon runner and triathlete. She was diagnosed with cryoglobulinemia in November 2012, and also has monoclonal gammopathy of undetermined significance (MGUS) and peripheral neuropathy, as well as being a breast cancer survivor. Trish speaks of her diagnosis: “I can hardly say the word cryo-globu-linemia. I’ve been so discouraged, tired and depressed. Some of the doctors I’ve had to see didn’t know very much about this disease. I was sent all over for tests, biopsies and specialists who found nothing.”
Trish was having a tough time finding out about her disease, until she came across the cryoglobulinemia organization website. “Did you know no doctor ever told me I needed to keep warm? You are the first person to tell me this. Since you did I’ve been wearing layers, warm boots, long pants and sleeves, leg warmers and hats. It’s helping.”
“When I found you and realised how long you’ve been living with cryoglobulinemia I decided I could make it too,” said Trish. “You’ve given me hope.”
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"Connecting with a real person who has the same rare disease makes a massive difference, which is why the rise in online patient communities is so positive."
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While online communities can provide a positive environment for patients with similar diseases, they also provide a place for patients to ask questions to see if they can find a response. For example, Trish questions whether having an autoimmune disease for 10 years (polymyaglia rheumatica) made her susceptible to the rare disease or whether it is hereditary. This is a common question for patients with cryoglobulinemia. But in order to answer this question and many others, we need research and we hope our growing patient community will give researchers a good place to start helping.
We also need a comprehensive approach to rare diseases with the development of appropriate public health policies, international cooperation of clinical and scientific research as well as the sharing of scientific knowledge. Through cooperation and partnership of support groups the development of new diagnostic and therapeutic procedures are becoming a reality. There is a wave of hope rising.
The road is long with many twists and turns. We must not give up on our quest to learn more. The rare disease community needs to keep unity so we all will have a strong and courageous voice calling out for help, research, support, advocacy and awareness!
General references
• Altenberg, Ph.D. Lee, Cryoglobulinemia Home Page, Updated December 10, 2002
• Ramos-Casals M, Stone JH, Cid MC, Bosch X. The cryoglobulinemias. Lancet 2012, 379:348.
• Wintrobe MM, Buell MV. Hyperproteinemia associated with multiple myeloma: with report of a case in which an extraordinary hyperproteinemia was associated with thrombosis of the retinal veins and symptoms suggesting Raynaud's disease. Bulletin of the Johns Hopkins Hospital 1933, 52:156.
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About the author:
Diane Dike, Ph.D. is an award-winning speaker, singer, author, certified foster / adoption mom and humanitarian who is known for her inspirational, humorous, and joyful spirit! Dr. Diane is a radio host who is regularly featured in a wide variety of print, radio and TV syndications around the world. As founder and president of Second Chance with Saving Grace and the Cryoglobulinemia Vasculitis Organization, Diane is impacting the world for good and helping people cope with medical issues. She is Oprah's OWN and Discover Health's Mystery Diagnosis TV, "The Woman Whose Legs Turned Black."
All ages connect with Diane, who knows what it is to be broken, homeless and hopeless. She was an elite athlete, teacher, professor and coach when pain became her constant companion at the tender age of 23. After suffering for three years she was diagnosed with a debilitating, rare incurable blood disease called cryoglobulinemia. In the midst of her despair, Diane found the secret to happiness and she shares that secret daily around the world while challenging people to "Stay Strong and Courageous-no matter what!" Diane is an expert in perseverance and overcoming seemingly insurmountable obstacles.
Diane has experienced terrible tragedy yet prevails with uncommon courage, her husband, Paul, her growing family and her rescued Italian greyhound service dog, Gracie. Against all odds she has dedicated her remaining days to being a light in the darkness, and helping as many people as she can! She'll dare you to do the same with a smile, a service dog and a second chance.
How can pharma better support rare disease patients?
