The Problem With a Rare Disease Diagnosis

Monday, May 18, 2015

Elizabeth
Thankful for Every Day!

Six months after the birth of my first child, I was diagnosed with a cavernous angioma. I never expected to have my life changed in so many ways. While cavernous angiomas are actually very common (one in every 500-600 people have them). They are still considered "rare" because most people that have them never know it as only about 30% of those with angiomas become symptomatic. Common onset symptoms can vary but often include:  seizures, stroke symptoms, hemorrhages, and headaches. Typically, a diagnosis only comes after an individual becomes symptomatic and has an MRI. The most common age for a diagnosis is in a person's 20-30's even though most people are born with their angiomas. Some people only have one (sporadic) or others have many/multiples (genetic).  By definition, cavernous angiomas, are abnormal clusters of blood vessels often resembling a raspberry configuration. The problem is that the lining of the blood vessels in cavernous angiomas are grossly dilated/defective, they have thin, weak walls that can leak or bleed easily. When these cavernous angiomas are in the brain and spinal cord and they bleed... They often become problematic.

Well, that's exactly what happened to me. When mine starred to bleed after my first pregnancy, I became symptomatic (dizzy, spacey, feeling weird, eyes not working right, etc). At first, I thought it was due to sleep deprivation, hormones, and everything new moms go through. By 6 months postpartum, I went to the doctors. Of course, they were sure I had postpartum depression. I insisted otherwise. No, I was not depressed but something was wrong. Eventually, I got an MRI which showed a 2.2cm cavernous angioma in the insular cortex....incidental finding....ugh!

Next I saw the first of several (incompetent) neurologists. She read the report without looking at the images, and tells me I have a tiny cavernous angioma in the middle of my brain. She says its not causing my problems and never will, which is good she says because the location is terrible. "Cavernous angiomas are something that never cause any problems. It's like a birth mark...nothing to worry about", she said. I questioned, "Well what's causing my symptoms then?" She said BBPV and prescribed meclazine,(which did nothing to help), and exercises to "settle the crystals in my ears" from the BBPV. I scribbled down the words cavernous angioma and felt relieved for a moment, not knowing how asinine her words were at the time.

There is a tremendous misconception in the field of neurology that cavernous angiomas are basically benign and cause no harm EVER. While statistically that can be assumed, sort of... Yes, most times cavernous angiomas behave themselves and don't bleed. But when they do bleed, they can cause all kinds of problems. Depending on many factors including the location and the amount/frequency of the bleeding, they can cause severe disability and in rare instances death. Those with the genetic type are also faced with the possibility of having many angiomas that can cause problems with bleeds and even may develop more angiomas over time. I was lucky...I only had one nasty bleeder.

Because this is a rare disease, there is limited research and currently brain surgery is the only treatment. Angioma Alliance is the best source for information, research, support, etc. I credit them for helping me to empower myself to reclaim my life after countless misinformed doctors gave me bad/dangerous advise in respect to my angioma. Education is key. If doctors would take their cavernous angioma patients seriously, and learn how to read MRIs....patients would struggle less trying to figure out what's wrong with them.  Most importantly, if research was a priority, there would be more treatment options besides brain surgery...which resulted in a stroke for me.


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The Problem With a Rare Disease Diagnosis

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Thankful for Every Day!