It's been a rough week in my little corner of the Universe. My conclusion... nobody should attempt dealing with serious, chronic health issues alone. Having an advocate that knows your medical history to accompany you when you go to doctor's appointments and treatment makes all the difference in the world. It has taken me a few days to regain my composure after an appointment with a neurologist earlier this week. I suggest if you are going to see a specialist for the first time it is good to have someone with you, to back you up, so they don't think you are a drug addict or hypochondriac. Advocates are also a big plus when we are physically and mentally drained, which happens often when one has a chronic illness. My heart goes out to Barack Obama every time I have heard him speak of his mother fighting Cancer and simultaneously fighting the insurance companies for the last year of her life. And I am grateful that he took that very painful event in his personal life and turned it into something wonderful. The Affordable Health Care Act.
My issue is a little different but just as frustrating. As we all know, nobody likes to go to specialists and confront serious congenital health conditions. And to make things worse, when you go to the doctor, they ask the reason for your visit and they want an easy answer in ten words or less because that is all they have time for. They want to draw blood, write a prescription and send you on your way. Unless it is is a neurosurgeon then they want to figure out when they need to schedule brain surgery. This week was no different. I left my new neurologist's office feeling like I had been hit by Santa Fe freight train.
Over the 36 year time period that I have suffered with a seizure disorder and migraines, I have seen numerous neurologists. Each time I feel like I spent useless time, energy and money, never to return for a second appointment because I felt unheard and degraded with no solutions for my health issues. My first mistake this time was finding a neurologist online. I chose a young female neurologist mostly because her bio said she also does acupuncture. How could I go wrong with someone open to alternative medicine? The first clue that I made a bad choice was when I called her office, nobody answered and there was a message stating that I couldn't leave a message. When I arrived to the medical complex, I couldn't find "Building F" so I walked around the complex in the pouring rain with a sopping wet, poorly drawn map that was sent to me via email. Map Quest only gave a street address on my phone. A minor inconvenience compared to the rest of the visit.
The doctor entered the office giggling that I looked like a shivering wet dog. She asked for the purpose of my visit. I was careful in answering because in my past experiences with neurologists, I have been accused of wanting pain killers to get high because I didn't want to take Imitrex for my migraines because it made me feel like I was having a heart attack. Another time I was accused of trying to sue someone after a car accident because I was taking notes during my appointment.
So this time I arrived with a neatly organized folder of medical history. I really wanted to start the conversation with "I need to have some tests done for an illness called Familial CCM, Cerebral Cavernous Malformations, or sometimes called The Common Hispanic Mutation. It is caused by mutations in the KRIT1 gene and causes low pressure vascular lesions of the central nervous system. It consists of clusters of dilated thin-walled blood vessels that predispose individuals to seizures and stroke. These clusters of dilated thin-walled blood vessels are often misdiagnosed as brain tumors. They seem to multiply with age, as do the symptoms. But I decided to simply say "I have a history of seizures and migraines, my seizures are controlled with medication and the migraines aren't as bad as they used to be." So of course she responded with "So why are you here?" I said "Because I believe I have a genetic disease called Cerebral Cavernous Malformations (CCM1). I believe my brother has it as well. We have the same symptoms, his are worse because he is six years older. The disease is hard to detect so I need to have an MRI of my brain and spine with dye and genetic testing. If I test positive, I want my MRIs sent to a doctor in New Mexico who in the last year has received federal funding to do a study on the disease." She sat back and laughed and in a very condescendingly Czechoslovakian accent said "You can't just read information on the internet and decide you have this disease and ask for tests." THEN I pulled out my folder containing my medical history. I handed her a letter written and signed by 5 doctors from the Angioma Alliance endorsing the critical importance of pursing clinical genetic testing for patients who have a family history of CCM1. Keeping in mind that identifying a patient’s genotype may have immediate clinical implications for the patients and their family. It also stated that it is important for clinical monitoring as well as for future research endeavors. She said "Genetic testing is expensive. There is no reason for you to have the test. You are not going to have any more children. Maybe your children need the test, not you." She left the room with the letter from the Angioma Alliance and I sat there for about 5 minutes fighting back a strong urge to leave but I was waiting for the rain ease up.
She came back and started typing on her laptop. Apparently she had gone to do some research in the other room. I then handed her a report from my last neurologist stating that I had been diagnosed with another rare spinal/brain disease called Syringomyelia, a debilitating disease serious enough to be on disability. However the symptoms are the same as the symptoms of CCM1. I have reason to believe I was misdiagnosed. Either way, the only solution for either disease is to have spinal surgery if the symptoms become serious enough. I then handed her a report from my cardiologist stating that I have a 3 cm aneurysm on on aorta which is being closely monitored because if it reaches 5 cm I have to have open heart surgery. Meanwhile, I have to take blood pressure meds because sometimes my blood pressure spikes for no apparent reason.
Oh yeah, and about that genetic issue... my brother had open heart surgery in December to have his whole aorta replaced because his aortic aneurysm had grown to a dangerous 5 cm and during that same week, my other brother had an outpatient procedure to fix his Atrial fibrillation. I then handed her another report stating that I have an extremely rare right sided aortic arch with a Kommerell Diverticulum on my heart. She of course didn't know what that was. My cardiologist had never even seen one because fewer than 50 cases have been reported. It simply means that my aortic arch goes to the right instead of the left and has a bulge on it. And last but not least I have a aortic valve insufficiency which basically means the valve does not close properly so blood leaks back through the aortic valve. With each heartbeat, more blood than usual enters the left ventricle and so it needs to work harder. She left the office again. This time she came back in the office looking at me as if to wonder why I am still alive and started treating me in a totally different tone. I'm in fact, not a hypochondriac or a drug addict looking for legal prescription drugs. She documented 5 very rare medical conditions on my chart and ordered an EEG and 3 MRIs and still maintained that I didn't need to have genetic testing because she said it is obvious that I have the disease and there is no cure. No reason for an expensive test. I just went with that because I was too tired to pursue the matter. She said your physician's assistant at Victory Medical Center takes very good care of you and then she asked if I needed any pain meds and I told her I don't take them, I take turmeric for inflammation. She agreed that was a good idea as she handed me the notes she took and orders for tests.
Over the 36 year time period that I have suffered with a seizure disorder and migraines, I have seen numerous neurologists. Each time I feel like I spent useless time, energy and money, never to return for a second appointment because I felt unheard and degraded with no solutions for my health issues. My first mistake this time was finding a neurologist online. I chose a young female neurologist mostly because her bio said she also does acupuncture. How could I go wrong with someone open to alternative medicine? The first clue that I made a bad choice was when I called her office, nobody answered and there was a message stating that I couldn't leave a message. When I arrived to the medical complex, I couldn't find "Building F" so I walked around the complex in the pouring rain with a sopping wet, poorly drawn map that was sent to me via email. Map Quest only gave a street address on my phone. A minor inconvenience compared to the rest of the visit.
The doctor entered the office giggling that I looked like a shivering wet dog. She asked for the purpose of my visit. I was careful in answering because in my past experiences with neurologists, I have been accused of wanting pain killers to get high because I didn't want to take Imitrex for my migraines because it made me feel like I was having a heart attack. Another time I was accused of trying to sue someone after a car accident because I was taking notes during my appointment.
So this time I arrived with a neatly organized folder of medical history. I really wanted to start the conversation with "I need to have some tests done for an illness called Familial CCM, Cerebral Cavernous Malformations, or sometimes called The Common Hispanic Mutation. It is caused by mutations in the KRIT1 gene and causes low pressure vascular lesions of the central nervous system. It consists of clusters of dilated thin-walled blood vessels that predispose individuals to seizures and stroke. These clusters of dilated thin-walled blood vessels are often misdiagnosed as brain tumors. They seem to multiply with age, as do the symptoms. But I decided to simply say "I have a history of seizures and migraines, my seizures are controlled with medication and the migraines aren't as bad as they used to be." So of course she responded with "So why are you here?" I said "Because I believe I have a genetic disease called Cerebral Cavernous Malformations (CCM1). I believe my brother has it as well. We have the same symptoms, his are worse because he is six years older. The disease is hard to detect so I need to have an MRI of my brain and spine with dye and genetic testing. If I test positive, I want my MRIs sent to a doctor in New Mexico who in the last year has received federal funding to do a study on the disease." She sat back and laughed and in a very condescendingly Czechoslovakian accent said "You can't just read information on the internet and decide you have this disease and ask for tests." THEN I pulled out my folder containing my medical history. I handed her a letter written and signed by 5 doctors from the Angioma Alliance endorsing the critical importance of pursing clinical genetic testing for patients who have a family history of CCM1. Keeping in mind that identifying a patient’s genotype may have immediate clinical implications for the patients and their family. It also stated that it is important for clinical monitoring as well as for future research endeavors. She said "Genetic testing is expensive. There is no reason for you to have the test. You are not going to have any more children. Maybe your children need the test, not you." She left the room with the letter from the Angioma Alliance and I sat there for about 5 minutes fighting back a strong urge to leave but I was waiting for the rain ease up.
She came back and started typing on her laptop. Apparently she had gone to do some research in the other room. I then handed her a report from my last neurologist stating that I had been diagnosed with another rare spinal/brain disease called Syringomyelia, a debilitating disease serious enough to be on disability. However the symptoms are the same as the symptoms of CCM1. I have reason to believe I was misdiagnosed. Either way, the only solution for either disease is to have spinal surgery if the symptoms become serious enough. I then handed her a report from my cardiologist stating that I have a 3 cm aneurysm on on aorta which is being closely monitored because if it reaches 5 cm I have to have open heart surgery. Meanwhile, I have to take blood pressure meds because sometimes my blood pressure spikes for no apparent reason.
Oh yeah, and about that genetic issue... my brother had open heart surgery in December to have his whole aorta replaced because his aortic aneurysm had grown to a dangerous 5 cm and during that same week, my other brother had an outpatient procedure to fix his Atrial fibrillation. I then handed her another report stating that I have an extremely rare right sided aortic arch with a Kommerell Diverticulum on my heart. She of course didn't know what that was. My cardiologist had never even seen one because fewer than 50 cases have been reported. It simply means that my aortic arch goes to the right instead of the left and has a bulge on it. And last but not least I have a aortic valve insufficiency which basically means the valve does not close properly so blood leaks back through the aortic valve. With each heartbeat, more blood than usual enters the left ventricle and so it needs to work harder. She left the office again. This time she came back in the office looking at me as if to wonder why I am still alive and started treating me in a totally different tone. I'm in fact, not a hypochondriac or a drug addict looking for legal prescription drugs. She documented 5 very rare medical conditions on my chart and ordered an EEG and 3 MRIs and still maintained that I didn't need to have genetic testing because she said it is obvious that I have the disease and there is no cure. No reason for an expensive test. I just went with that because I was too tired to pursue the matter. She said your physician's assistant at Victory Medical Center takes very good care of you and then she asked if I needed any pain meds and I told her I don't take them, I take turmeric for inflammation. She agreed that was a good idea as she handed me the notes she took and orders for tests.
I walked back out in the rain feeling completely wiped out. I drove south and upon arriving home, took a two hour nap. It took me two days to recoup from the very draining one hour doctor's appointment which felt more like a court date. And that is why I am writing this blog. I don't want anyone to go through what I went through earlier this week. Therefore, I have attached a few links about CCM1, the disease that I know many of my relatives have, most of whom have not been correctly diagnosed. The heart issues that I spoke of above are a whole other issue or maybe they go hand in hand, I don't know. Either way, my brothers and I have a congenitally compromised cardiovascular systems. My father died of a heart attack 15 years ago today and his father died of a heart attack as well. My maternal grandfather had 5 strokes before he died. I had a 1st cousin die of a brain aneurysm at the age of 50 and his brother and niece have migraines and other brain disorders. That's just the tip of the iceberg, there are too many more to mention.
So here is what I know about the rare disease called Cerebral Cavernous Malformations, KRIT1, sometimes called The Common Hispanic Mutation. About three years ago, while doing genealogy research, I came across some information about the disease. It causes vascular anomalies, that look like mulberries (mora in Spanish) Interestingly enough, as a child, I spent my summers eating mora while sitting in my grandma's mora tree next to the irrigation ditch at her house in Puerto de Luna, New Mexico. The photos of these vascular anomalies looked strangely familiar when I first saw photos of them. These purplish red mulberry shaped vascular anomalies cause many symptoms like seizures, migraines, a burning sensation in limbs, toes and fingers, strokes and sometimes sudden death. Cavernous malformations can form in any part of the central nervous system.
Some people with CCM also have cutaneous vascular malformations that look like this.... and guess what I have a "birthmark" that looks exactly like this and so do my offspring.
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| These Vascular Anomalies on the Forehead are Common in My Family |
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| This is one of the few photos I have of myself when I was a baby. You can see the vascular anomaly on my forehead. |
About 50% of the carriers of the (CCM1) mutated gene are asymptomatic but if you carry the gene, your children have a 50% chance of also having it. Even though it is a very rare disease, and the gene wasn't identified until 1999, it isn't rare to me at all. It mainly exists in the Hispanic community of New Mexico. Not Spain. Not Mexico. I've met a few cousins on facebook and Ancestry.com who either still live in New Mexico or have ancestors from New Mexico who either have the disease or have had a loved one die of the disease. It isn't really a club you want to belong to but at the same time, it's comforting to have relatives in the same sinking boat.
I can't really remember the year I read The New York Times article about CCM1 but it was written in 2007. It was a compelling story of a seemingly healthy 9 year old suddenly passing away due to a brain aneurysm. When I read the symptoms the little girl's aunt, Joyce Gonzales described of the burning sensation in her arms and legs, I knew I was onto something. As I read it, I was myself having a burning sensation in my leg and toes (as I do today.) I immediately contacted Joyce in New Mexico. She had been working extensively, building a family tree that linked most everyone with the CCM1 gene mutation back to Ana Moreno de Lara de Trujillo, my 7th great-grandmother, married to Cristobal Baca.
Update: I originally wrote this blog in August of 2016. I am updating it and it is now 2021. I have now discovered that Joyce Gonzales is my second cousin.
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| Joyce Gonzales |
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| Dr. Leslie Morrison |
Joyce immediately put me in contact with Dr. Leslie Morrison, a Pediatric Neurologist from UNM who is a specialist in the CCM1 gene mutation. Since then Dr. Morrison has received federal funding to do a study on the gene mutation. I also had several conversations with a cousin in Santa Rosa, NM who is an asymptomatic carrier of the CCM1 gene, however she has two children with the disease. One of her child had been misdiagnosed with a brain tumor and the other had spinal surgery to have her angiomas removed. I gathered all my info and took it to my doctor and asked to have the gene test and after waiting about 6 weeks for results, I discovered that they had ordered the wrong genetic test. By this time, I'd a dental procedure and the infection in my gums went to my faulty aortic value and I ended up being very ill for about 3 months so I dropped the ball on the gene testing and a possible trip to New Mexico.
Meanwhile, as I mentioned above, my brother Phillip was having very serious health issues of his own. After a seizure in 2009, he was diagnosed with a "brain tumor." He had it removed, recouped and then he had to get a pacemaker for atrial fibrillation. He had also been diagnosed with a 5 cm aortic aneurysm and in December 2015 he had open heart surgery to completely replace his aorta. His physical therapist gave him a score of 110% after his heart surgery however, he is still having issues trying to find a seizure medication that both works for him and doesn't have horrible side effects. I'm still not sure why medical marijuana for seizures in adults is still not legal in Texas. It is a total mystery to me. I have had issues with my seizure medications in the past but doing well with the one I take now, but with my brother still having major issues with his, I sure would like to see medical marijuana legalized.
angioma.org
My headaches aren't anywhere as close to as bad as they used to be but I still have daily episodes of severe weakness, burning sensations in my spine, back, limbs and toes. About twice a month I have these awful episodes that for a lack of a better word I call the WaahWaahs. It starts with a strange tightening in my lower back around my spine and then I feel a "click" in my brain like it is misfiring or maybe an angioma bleed. It's hard to explain I just know that once that happens I am going to end up in bed off and on for a couple of days so I have to cancel all my plans, turn off my computer, TV, music and curl up with my cat in bed under my down comforter in a cool, dark, quiet room. It is an overwhelming, scary feeling and I have often thought it would be a good time to go to the ER and have an MRI to see if in fact my brain is bleeding.
So about a month ago I decided it was time to jump back on the path of CCM1 research and see a new neurologist. I say research because there is no known cure. That's the reason I haven't been in a real big hurry to get the actual genetic diagnosis. Then what do I do? Have brain surgery or spinal surgery. No. I don't think I am ready for that. I guess I have to agree with this last neurologist. If it quacks like a duck, it is probably a duck.
However, with that being said, I have been staying on top of all the research going on in Albuquerque, NM from afar. And coincidentally night before last, I hopped on Facebook and saw a post on a FB group I belong to called "The Genealogical Society of Hispanic Americans." Someone had posted an article about Cerebral Cavernous Malformations in New Mexico. 102 people shared the article and I stayed up until about 2:00 chatting with distant cousins that share this disease. It may be a rare disease world wide but it is a huge scary disease in my corner of the Universe. I have attached lots of reading material and most importantly, the first link below which is a must watch video.
