Patient perspectives: Marianne Vennitti
Rebecca Aris interviews Marianne Vennitti
As our patient perspectives series continues, we speak with rare disease patient Marianne Vennitti on her experience as a patient with Essential mixed cryoglobulinemia.
Cryoglobulinemia is a disease in which abnormal proteins are present in the blood. These abnormal proteins become thick or gel-like in cold temperatures1. Treatment of this disease involves ‘avoiding cold temperatures’1. Patients with this condition have to constantly observe the outdoor and indoor temperature, avoid air conditioned areas and constantly be prepared for any change in the temperature.
Essential mixed cryoglobulinemia (EMC) is a rare autoimmune disorder and is one of three conditions associated with cryoglobulinemia. Marianne Vennitti was diagnosed with EMC two years ago and has been driven by the lack of information that she found available at the time to support patients in this area.
Marianne blogs as LaughingNana and shares here with pharmaphorum her experience as an e-patient with a rare disease and how she became driven into becoming a rare disease advocate. She also comments on how she would love to have the lines of communication with pharma opened up to make progress for the rare disease community.
Interview summary
RA: Marianne thank you for taking part in this interview. Could you please start by describing your journey as a patient, and how you came to be an e-patient?
MV: My sudden change in wellness began in 1998. I was diagnosed with various autoimmune diseases. At the time I was a very healthy fitness professional, but within one month I was totally disabled and I had to give up my business.
In 2010, I was diagnosed with essential mixed cryoglobulinemia which is a rare disease.
It was really the lack of information that empowered me to start educating myself about rare diseases.
When I was diagnosed I started researching cryoglobulinemia. I realized that information was very sparse and there wasn’t an organisation or support group to help relieve my fears. I recall in a moment of desperation, with tears in my eyes, making a promise to myself that I would never let another cryo patient feel this lost and unsupported like I felt at that very moment.
We now have a support group on Facebook for cryoglobulinemia, and I’m very happy to say that in January I will be presenting a web based platform called Alliance for Cryoglobulinemia for those seeking support and information on this rare disease.
I became very lost through this illness, it was a very depressing and truly sad time in my life. But now I feel I have renewed purpose, a passion, and a mission as I focus on learning more about cryo and about the road as a rare disease advocate.
RA: What would you say is one of the most challenging things to deal with living with cryoglobulinemia?
MV: That’s easy. It’s the constant observation to the temperature the cryo patients are exposed to each and every day, and that includes both indoors and outdoors.
Cryo patients are told to stay warm, and it’s so frustrating, because that’s such a broad statement. To date there is no documentation on the exact temperature that affects each patient, which means that it’s the responsibility of each patient to observe temperature conditions as well as changes in temperature that they face in relationship to symptoms that cause flares. It’s very frustrating because our doctors are not aware of the significance of this problem that we face and discuss in our own community.
This affects our daily lives significantly, because we only go outside if and when necessary according to weather conditions. And if we’re inside we need to still be vigilant.
The hospital of all places is one of the worst enemies, because of the cold procedure rooms and operating rooms, infusions and cold instruments.
A simple task like going to the grocery store means wearing gloves even in the summer, because of refrigeration or freezers. We are always prepared because we know the consequences if we ignore preventative measures.
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"Rare disease patients are in desperate need for information about the diseases that invade their bodies, their lives and their family’s lives."
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RA: What is it that drives you and makes you so determined?
MV: It’s the fear I hear in the voices of the people in our rare disease community. It’s the lack of treatment causing so many people to live debilitating lives, and it’s the children who make up one half of the rare disease communities.
Rare disease patients are in desperate need for information about the diseases that invade their bodies, their lives and their family’s lives. They need support when they can’t find answers from their doctors, and so many times they are just left to their own initiative, and that is really frightening. I see the value in getting my words and patient experience out into the world, because my 61 years of life has prepared me to never walk away from the things that God places in my path, and I believe that I have accepted this responsibility to help educate and support not only my cryo community, but also the rare disease community, because I care.
When I first started my blog I titled it ‘I care because I’m rare’. That statement comes from a place very deep in my heart, because I know what it means to lose your life and accept what is and make it good. I will knock down both virtual and steel doors to help our communities find the support, the education and the resources that they need.
RA: Why is it so important to raise awareness of cryoglobulinemia?
MV: I have seen the look in the eyes of many doctors that say, I just don’t know because you are so rare and there are no approved treatments.
There’s so much that we don’t know about cryo. Cryo is a disease that has little research, no approved FDA treatment, and of course no cure. That’s the norm for over 7,000 rare disease. Only 5% of these 7,000 diseases have approved FDA treatment.
My initiative for cryo isn’t just about my disease, it’s about using cryo as a model for the many thousands of diseases that affect 1 in 10 Americans living with chronic illnesses facing each day without answers, and in many cases without hope. I personally know what it feels like because I live it every day. I’ve faced the darkness that comes when it feels as if there’s absolutely no hope.
RA: What benefits do you find from using Twitter and other social media platforms as a patient advocate?
MV: Social media is like an adult playground. When I first entered Twitter land, I sent out one of my first tweets that asked, “what is an e-patient”? By the end of the day I was I was Skyping with a Twitter friend, and had secured a mentor.
I found that Twitter was more than just chatting, it was sharing and acquiring information. It was developing relationships and it was securing friendships. Social media has provided me with tremendous support, access to educational information, active dialogue with healthcare professionals, and has given me the means to help create a network within the rare disease community. It has empowered me to look past my illness within the last 16 months, and join the powerful voices on healthcare social media that want change to happen.
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"A simple task like going to the grocery store means wearing gloves even in the summer, because of refrigeration or freezers."
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RA: What is the biggest unmet need of patients with cryoglobulinemia and what do you think pharma can do to meet this need?
MV: Our biggest need is research about EMC. Unfortunately, it’s not likely to be considered for research, because like many thousands of other rare diseases we’re just too rare.
In a perfect world pharma would provide us with natural case studies, a patient registry, trials on disease progression, and temperature variables for preventative care. We also need updated testing protocols and guidelines for cryo that would be accessible for lab techs, from every lab and hospital in the country.
But I doubt any of that is going to happen. If we don’t receive research then perhaps we can look at ways to bridge this gap between pharma, patients and advocacy groups. That needs to be done through active communication. But before we can even communicate pharma needs to come out of the woodwork, so we can see who they are, what they’re doing, and what they’re willing to do with and for us. For me I can’t find them, they’re still too hidden.
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"...pharma needs to come out of the woodwork, so we can see who they are and what they’re doing..."
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RA: What do you think needs to change in order for research to be increased in this area and for pharma to better support the rare disease community?
MV: First patients need to be acknowledged as a necessary component in crowd sourcing with researchers, because they understand their diseases and they’re willing to go to extremes, far more than the average patient, when they find no hope in the system.
They have a vested interested, therefore pharma needs to be vested in their customer relationship and outreach by taking responsibility for these unmet needs, which are tremendous for the rare disease community. They have to embrace patient-centered research from the first thoughts of inception about a disease, to interactive networks within our community. So let’s just open up the lines of communication.
Rare disease patients, advocates and communities need partnership, and what better way than, education? I invite pharma to break through social media barriers and ask them to join us on our networks, starting with our very small communities, up to national levels.
They need to provide us with online seminars, taking us through the process of trials, grant support, patient registry guidelines. If they’re willing to educate the patients, advocates, and leaders, we will provide them with our community resources.
The challenge in meeting the needs for the rare disease community is difficult, considering the population of patients, for each disease. This is an understatement, well understood. What is pharma able to do to help provide treatment for so many? Are they willing to take a personal approach and take responsibility for 1 in 10 Americans living with rare diseases? I wonder!
By taking on the responsibility, a trusted relationship can be embraced and developed, communications and collaborations will be established. Then we will produce progressive change for rare diseases.
RA: Marianne thank you very much for your time and for your insights.
MV: You’re very welcome Rebecca, thank you.
References
1 Cryoglobulinemia: A.D.A.M. Medical Encyclopedia.
http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001567/
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About the interviewee:
In July 2010, Marianne Vennitti was diagnosed with Mixed Cryoglobulinemia (MC), a type of vasculitis that is also an autoimmune disease. Because the disease is rare and poorly researched she was at a loss to find materials to educate her. She viewed the void of information as a challenge and dove into the web and social media in an attempt to understand her rare illness.
The drive to support and learn drove Marianne to volunteer and assist in the Rare Disease Education and Awareness Day February 29, 2012 promoting especially for CVO Facebook support group which was her first venture in advocacy. In September 2012, she was honored as an e-Patient Scholarship Recipient at Stanford Medicine X, for work in supporting the rare disease community via social media and innovative technology. Marianne has lived with chronic illness for 14 years and been diagnosed with Cryoglobulinemia for 3 years. The experience of chronic illness has not hindered her thirst for knowledge but rather empowered her to venture out via social media and face-to-face conferences to advocate for herself and her rare disease community!
Through social media and networking Marianne met other people with cryoglobulinemia online and in person! A unique experience since people with cryo are so rare. In 2012, she met a new ‘cryo’ friend and fellow advocate Eileen Propp, Ph.D. With Dr. Propp’s writing, research skills, and collaboration Marianne decided to take her advocacy to a new level. She is now the Administrator-Founder for Alliance for Cryoglobulinemia launched in September of 2012. Her goal is to create a platform that links to all efforts, campaigns, research, support and other resources related to cryoglobulinemia. Marianne continues to network and advocate for all rare diseases, seek partnerships with non-profit, pharmaceutical and other organizations. She believes that the access and availability of web-based resources is a great-untapped resource for medical and patient peer-to-peer support.
How can pharma take a personal approach to rare diseases?
