Tami
Kansas, USA
Age 44 at diagnosis
Editor’s Note: Tami was confirmed for having the CADASIL mutation in early September 2017, and shared her story a short time later. Thank you, Tami, for your willingness to talk about this so soon. (This piece is edited from her posts in CADASIL Support Group on Facebook.)
Tami’s Story:
Although I expected to hear that I had CADASIL, actually being diagnosed was still tough to swallow. Once I thought about it, though, I realized that nothing has really changed. Yes, I have it. Does that make me any different than I was before the diagnosis? Absolutely not. Since it’s a condition we are born with, why should me knowing change who I am? The only difference is that now I know, so I have the opportunity to make healthier decisions and try my best to avoid stress and things that can expedite symptoms.
I’ve been healthy my whole life, but after a recent TIA, I realized something was wrong. By continuing to eat healthy, exercise, and try to minimize stress, why can’t I still be as healthy as possible? I realize each person is different and has various symptoms, but I believe a positive attitude plays a huge part in being healthy. I believe there is hope. We can’t change the fact that we have this disease, but by realizing we’ve always had it–it didn’t just show up out of the blue—we can at least try our best to get through it.
I find comfort in knowing that I’ve been ok for this long, and that it was bound to rear its ugly head eventually. Ignorance can be bliss, but knowledge really is power. We can’t control the disease, but why give in and let it control us?
I’m sure some people reading this are thinking to themselves, “Just wait… You may not feel this way next month, next year, etc.” I certainly don’t expect things to be easy, but why complicate it more by focusing on the negatives? Make the most of the positives in life and take control of what you can. Accepting I have this disease isn’t the same as embracing it. Life isn’t easy, but I firmly live by the belief that there are enough stresses that we can’t control, so the best thing we can do is eliminate the stresses we can.
Every day is a blessing. Nothing is promised.
I was officially diagnosed with CADASIL on Oct 10th, 2012. I am 40 years old and show no symptoms of the disease at all. My mum is 60 and was diagnosed with CADASIL two years ago after lots of guess diagnoses from doctors. My mum has had four strokes and several (unconfirmed) TIAs. She has suffered with migraines, numbness, severe depression, and mood disorders since I can remember. My granddad died at aged 64 from a massive stroke after suffering several TIAs and having Alzheimer’s. We now believe he had CADASIL but we can’t prove this. He suffered with migraines and depression but didn’t talk about it.
After my mum’s diagnosis (which she received via letter due to an administration error), my sister had the genetic blood test, as she has always suffered migraines. She has two kids so wanted to test. She got her results last year in person and tested negative. I originally decided not to test as I have no children and never suffered any symptoms. Then I decided I wanted to find out, as I was getting stressed thinking about it. I had genetic counseling beforehand (I was told by my counselor that I had good knowledge of the disease and could go right ahead and have the test done). It took six weeks for the results to come back, and I had to attend the clinic for results in person.
I had decided I would give up smoking on “results day” no matter what. Needless to say, I tested positive for the Notch 3 gene abnormality and I have CADASIL. I asked to be referred to a specialist so I can find out more in-depth about the disease, as I feel different from others because I have never shown any symptoms (as yet).
I feel like I’m living with a time bomb inside me not sure when or if it’s going to go off. I did give up smoking on the 10th of October and am still not smoking. I’ve started to take 75 mg of aspirin daily (my GP “Googled” CADASIL and told me start taking it). I’m doing all I can to lower my risk of stroke. I have lower than average blood pressure, low cholesterol, and I have lost 1-1/2 stone this past year.
I am still coming to terms with my diagnosis and feel like I’m going through a stage of bereavement. My mum says she knows how I feel, but it’s hard to talk to her about it as I get upset seeing her going slowly downhill and her memory fading. I don’t wear bracelets so I have a CADASIL medic alert tattooed on my inner wrist/arm to alert medics not to give me thrombolysing drugs in case of stroke. I’m told with CADASIL that certain blood-thinning drugs can make situation worse.
This story was contributed and initially featured in the May 2013 issue of EMBRACE newsletter published by CADASIL Association. Thank you Jax for sharing your story and helping others with CADASIL.
I was diagnosed with CADASIL three years ago when I was 37 years old, after suffering a TIA at work. I had always known something was not quite right after my first complex migraine at age 16. I had trouble with numbers, and my concentration and memory were sometimes terrible. (Still are!)
My mum has advanced CADASIL, and both my uncle and grandfather have died from it. I think my brother may have it too, as he had his first complex migraine a couple of years ago, but he doesn’t want to be tested. I have had a few appointments with doctors and neurological “specialists,” but they admitted to knowing nothing about this disease, so I self manage now. I take Vitamins B12 and D, Thyroxine and Iodine for my thyroid problem (I believe this disease has affected my pituitary gland, as I suffer with a lot of hormonal problems and sympathetic/parasympathetic nervous system problems), fish oil for depression, and I have cut out processed foods, carbs, and sugars from my diet. I also drink at least 2 liters of water a day. If I do not eat and drink this way I find it affects my health massively, causing headaches, tiredness, and confusion.
I had a nervous breakdown when I was diagnosed, and it has taken two years to come to terms with this. But knowing my life will be different than how I imagined it would be a few years ago has made me grab my life by the throat, live every day, plan for my future, love my friends and family, and never ever take anything — especially my health — for granted. It has given me the drive to develop my own business and sort my life out, rather than partying my life away and throwing my money at rubbish, as I was doing a couple of years ago. Knowing I have this has changed my life more than I ever thought it would, but I’m not going to let it ruin it just yet!
This patient story was initially contributed and featured in the May 2013 issue of EMBRACE newsletter published by CADASIL Association. Thank you Emma for sharing your story to help others with CADASIL!
ASK DR. JOESpecial feature
Here are the questions submitted to Dr. Joe in March of 2013
Is a TIA the same as a mini-stroke?
Transient ischemic attacks cause only temporary damage to the brain while a mini-stroke causes permanent damage, even if small.
What test do you think is most accurate for a diagnosis of CADASIL: Blood test or skin biopsy?
The most accurate is the genetic test that is done using blood.
Can you describe the difference between what Multiple Sclerosis looks like on an MRI compared to what CADASIL looks like on an MRI?
There is not a simple way to distinguish CADASIL and multiple sclerosis using MRI only. The MRI information has to be considered alongside family history, clinical symptoms, and the results of the genetic analyses.
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This “Ask Dr. Joe” special feature article was initially contributed to the March 2013 issue of EMBRACE newsletter published by CADASIL Association. Thank you to Dr. Joseph Arboleda-Velasquez for his collaboration to answer questions from the CADASIL community. Please note this is not medical advise, always seek medical advice from your healthcare provider.
In 2001 when I was 25, I was working out at a local gym when I started to feel like my arm and legs were falling asleep. I quickly realized that the numbness was moving everywhere on my right side. Scared, I quickly left the gym and got in my car to drive home. I was unable to contact my boyfriend on the phone, so I called my parents to tell them that I felt “weird.” When my mom answered the phone, I could not say anything other than “gym” that made sense. My parents came to get me. At the nearest ER, I was diagnosed with a complex migraine and sent home. My GP referred me to a neurologist who ordered an MRI and was obviously confused by my scan results. To him, my scan showed Multiple Sclerosis, but he did not understand why I did not have any MS symptoms. He referred me to another doctor in Toronto, Canada. Upon meeting me, reading my MRI, and conducting other MS tests such as evoked potentials, the doctor diagnosed me with probable MS. He wanted to confirm the diagnosis by doing a lumbar puncture and set up the appointment for that.
About a week before the spinal tap, the doctor called me at home. He told me that he had heard about a “new” disease that could explain the multiple lesions that were evident on the MRI. He also mentioned that the test was less intrusive as it was only a skin biopsy. He refused to tell me the name of the disease and said that he would explain it to me afterwards, if the test proved positive. My skin biopsy came back positive and then the blood test came back positive for CADASIL. I was so happy that I didn’t have MS. But then my doctor started explaining CADASIL. He kept saying over and over: “Sonia, this is rare. Really rare. We don’t know much about this disease.” For the past several years, I have heard this repeated and repeated from every doctor where I have searched for answers.
It was May 2004 when I received my positive CADASIL diagnosis. I was 28 years old and had been married for one year. Knowing the genetic risks, my husband and I still decided to have a baby. In July 2004, I had my first stroke that paralyzed my right side. While in the hospital, we found out that I was pregnant. I was immediately referred to a special pregnancy “maternal” diseases program in Toronto. There a team of “experts” would help me through my pregnancy. I was followed by an OB/GYN, a hematologist, a pediatrician, an anesthesiologist, a geneticist, and a genetic counselor. Not a single doctor there knew what CADSIL was. They all promised me that they would do research to help treat me. I did research as well. I found one study on-line about pregnancy and CADASIL. It was not helpful according to my doctors. My genetic counselor admitted to me at one appointment that it was obvious that I had a far better understanding of the disease than he did, and that he was not going to be useful to me. Finally the consensus of the medical team was to treat me as a pregnant stroke survivor.
My healthy baby boy was born by caesarean section in March 2005. I had my second stroke 10 weeks later. Thankfully, my son has not shown any CADASIL symptoms – although there is a 50% chance of him having it. I am 36 years old now. Thankfully, I have not had any more strokes. I have about four complex migraines every year. The auras are horrible. I continue my quest for knowledge about CADASIL. The doctor who helped me get diagnosed has agreed to follow me even though he is a MS specialist, because there is no other doctor who knows more than him about CADASIL in my province. According to him, he treats three other people with CADASIL. I have approached the “Best Doctor’s” organization as well and have found nothing new.
I wear a medic alert bracelet and I carry papers in my wallet that explains CADASIL for when I go to an emergency rooms to get my migraines checked out, to make sure they are not a TIA or stroke. I’ve actually had one ER experience when I was told to not come back to that ER and that I should drive the hour down to St Michael’s hospital in Toronto. I am terrified of the future: of what will happen to me and what will happen to my son.
We CADASILians need a cure. We need a treatment. We need research. We need awareness.
This story was originally contributed and published in the March 2013 issue of EMBRACE newsletter published by CADASIL Association. Thank you Sonja for sharing your story and for all you do for the CADASIL community.
My first experiences with persistent headaches were in high school. I have memories of occasional headaches during childhood and early adolescence, but those that started when I was around sixteen could be brutal. I had been having them for weeks and missing a lot of school when my dad took me to his chiropractor. X-rays showed I had various vertebrae out of whack. The treatments helped, but I sometimes felt more nauseous and dizzy after a spinal adjustment than before. I didn’t tell my parents this because they were relieved to think I was getting help.
In my twenties and thirties I rode the joyous ups and complex downs of being married and raising a young son, while working many hours in a hospital office and taking college classes toward becoming a teacher. I clearly recall battles with depression, anxiety, mood swings, and fatigue, but I assumed those went along with my hectic life. I hid these symptoms behind a smiling face and a good sense of humor. I attempted to keep my headaches at bay with large doses of non-prescription pain relievers. I’d do anything to numb the insidious pain.
A divorce in my late thirties took me as low as I believed I’d ever be. The failure of my marriage hit hard, as I had always been driven to succeed in everything I held important. My son, by then a young teen, was hurting and extremely angry. I felt like a rotten mother and a fragmented shell of the person I once knew.
Meeting my second husband brought newfound happiness. I still had headaches, but my depression lifted for a while as I settled into a good marriage. My relationship with my husband remained strong, yet the depression and other issues returned. I did not understand why I could feel so awful at times. My counselor referred me to a psychologist, and I began more intensive talk therapy and opted to try anti-depressants. I could feel some relief, but I knew I still wasn’t well. I feared I might be bipolar, although my psychologist assured me I was not.
Through the summer of 2008 I went on and off several medications during my vacation from school to try and balance my emotional swings. Surely the drugs caused the now frequent sick headaches, I thought. As autumn approached, I felt so crummy that I seriously considered ending my life. I became increasingly ill, barely managing to rally for my job only to collapse at home later. Daily I had tight pressure across my forehead into the top of my skull. Sometimes if felt as though an invisible hand was twisting my brain, and I would get waves of nausea and dizziness. I kept the truth of how terrible I felt from my husband, my other family members, my friends, and my colleagues. I feared I was going insane, and that if anyone knew how sick I was, I would be institutionalized.
Near the end of October 2008, I blacked out while attempting to get ready for work. I called my husband when I regained consciousness, and he rushed home to take me to the hospital. (Please also see my story regarding my ER visit and my neurologist)
Being diagnosed with CADASIL nearly a year later, a month before my 50th birthday, was devastating. How could I have a rare genetic disease few people know exists? At the same time, my diagnosis explained many of my symptoms and answered a lot of questions. In a way, knowing I have CADASIL has helped me cope with my life. Certainly, it has made me appreciate my good days more fully, and it has allowed me to give myself permission to take it easy when I am feeling sick.
My diagnosis renewed my faith in God. I work at maintaining a positive attitude and keeping myself as healthy as I can even while I realize this disease is progressing in me. I have hope for a cure for CADASIL – if not in my lifetime, then in the lifetime of the next generation.
This story was originally featured in the December 2012 inaugural issue of EMBRACE newsletter published by CADASIL Association. Thank you Janet for sharing your story and for your advocacy role in publishing and making EMBRACE available to the CADASIL community.
I never had headaches or migraines growing up, so when I started getting them when I turned 40 years old, I thought that was strange. I started seeing a neurologist and had an MRI. The neurologist told me I might have Multiple Sclerosis but he wasn’t sure. He told me it was my choice on whether to go on MS medications or not. I chose not to. He began treating me for migraines.
One day at my job, while just standing and talking to a co-worker, it felt like a sledgehammer hit me in the back of the head. I was escorted to my desk to sit down. I could only stare. I could not talk or move. This felt like it went on forever. I finally came back to consciousness while a paramedic was talking to me in the ambulance. At the hospital they really did nothing for me, and I was released a couple of hours later. At home, I continued to have frequent “staring episodes” followed by migraines. I decided to have someone take me back to the emergency room. My episodes seemed to baffle the doctors. They sent me for an MRI, and after that they admitted me for more testing.
My father had been diagnosed with dementia when he was in his late forties/early fifties. He had a neurologist at this same hospital, and when he passed away at the age of 58 we allowed that hospital to do an autopsy. (Hence the reason I chose this particular hospital.) A neurologist came to my room after looking at both my MRI and my father’s autopsy report, and sat down to tell me he thought I have something called CADASIL. He told me about it and asked for approval to do the genetic test. I was sitting there with my mom and my best friend. As the doctor was explaining all this to us, I looked over at my mom and she had tears in her eyes. As for me, I couldn’t believe it, and I don’t even remember much of what he said or if I was really listening to him.
A month later, my husband and my mom and I went to hear the results of the genetic test. As I sat there waiting, I felt really nauseas and anxious. When the doctor came close to me and said, “The blood test came back positive, and the skin biopsy also came back positive,” I think I was in shock. Again, my mom had tears in her eyes. I can say that in some weird way I blamed my dad for this, which is really stupid of me for he didn’t know what was wrong with him. None of us knew. I got very depressed and felt a wave of doom come over me. I thought back how bad my dad’s condition got and how quickly it all happened to him. I kept thinking I’m going to die in 5-10 years. I thought how my mom had to deal with my dad at his worst, and in some ways I didn’t want my husband to have to deal with me at my worst.
Now, over two years after my diagnosis, I still get bouts of major depression, but I’m finding that I have to live my life to the fullest no matter what. I have my good days and my bad days, but my CADASIL is not going away, so I have to live with it and be as hopeful that I can that there will be research done and a cure found.
I meet more and more people online at Facebook who have CADASIL, or who know someone who has it, or who have had a loved one pass away from it. There has to be even more people out there who have CADASIL and just don’t know it yet because their doctors haven’t heard of it.
This patient story was initially featured in the December 2012 Inaugural issue of the EMBRACE Newsletter published by the CADASIL Association. Thank you to Karla for her advocacy!
Dec 13,2016
