Cavernous Malformation

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How I Coped After Being Diagnosed With an Ultra Rare Brain Disease

I had brain surgery in 2021 to excise a Cavernous Malformation on my 4th Ventricle. The recovery was tough. I had several weeks of physical therapy to help me re-learn walking, how to balance, and even how to drive and ride a bike. I made great progress and graduated. However, that was not to be long lasting. Suddenly, I was experiencing disturbances in my vision, and various areas of my body were numb. After many MRI’s and tests, I was diagnosed with Hypertrophic Olivary Degeneration, or HOD.

I am unable to describe how helpless I felt, when I looked on the internet to find any information about this disease, and there was nothing. The doctor who diagnosed me admitted that his institution had very little information about this disease, and all but wished me luck. He turned my care back over to my Neurologist and General Practitioner to deal with. It was (and still is at times) devastating.

I found a Facebook Support group with around 150 members to try to figure out what the next step was. Unfortunately, the community of patients from all over the world had a similar story to mine. No doctor or institution knew anything about this disease, and we relied on each other to start putting puzzle pieces together. The founder of the group wrote into GARD (Genetic and Rare Diseases) to find more information. We also consulted NORD (National Organization of Rare Diseases). There was very little information with these organizations as well. NORD recommends that all Rare Diseases create patient organizations to fundraise and attract industry to the patient community to start finding answers.

When I read that suggestion from NORD, my hopelessness started to lift. I had been volunteering for the Angioma Alliance, which is a patient organization for Cerebral Cavernous Malformation. I knew that I could do the same for HOD. I polled the support group and asked if people were interested in creating the patient organization, and it was a resounding YES!

Armed with absolutely no experience or knowledge, I forged ahead. I asked some close friends and family if they wanted to be on the Board, and there was no hesitation at all. We dove in, headfirst. We received our 501c3 status from the IRS in October of 2021. As of today, we have partnered with CoRDS (Sanford Research) to create our patient registry, which will go live at the end of June 2022. We are holding fundraisers and are on the precipice of releasing merchandise to help fundraise for the cause. We hold regular board meetings and consult with many others who have trailblazed in the community to learn from their experience. We hope to do the same for other newly formed communities in the future.

I coped with this devastating diagnosis the only way I know how, to take action and make things better for the next person diagnosed with this rare neurological disease. It would have been much easier to sink into despair and let go of life as I once knew it. I never want another person to feel the hopelessness that I once did.