Robert’s Story


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Robert’s Story

 

This is an edited version of a post Robert shared on FaceBook and used with his permission. Thank you Robert for sharing your story, it will help many people also on a journey with CADASIL.

 

I’m 50 years of age now and when I was 38, my wife was pregnant with our daughter and we were looking to buy a new house. After looking one day, we made a stop at Walmart and while we were walking towards the store hand in hand, I noticed that I could not see her in my peripheral vision. I thought this was strange… but continued with our shopping. Once back in the car.. two fingers on my right hand went numb and then the tip of my tongue went numb and I could not speak properly or understand what my wife was saying. This lasted for a few minutes and resolved. We returned home and I went to bed. My wife made me an appointment with our general practitioner and a week later the doctor was certain I had Multiple Sclerosis (M.S.) and referred me to a specialist who didn’t really agree. After a lumbar puncture ruled out M.S. they did an MRI of my brain.

What they found was extensive scaring on my brain. This was the aftermath of many ischemic events that occurred in the past and that I had really no knowledge of. I was however, a recovering addict and wrote off a lot of these weird things as fallout from many years of drug use. Things like talking to someone and garbling or not pronouncing a word. I also found that my memory was failing more, but again… wrote this off as collateral damage from drug addition. So, with the MRI results and it looking more like a vascular problem in the brain, I was referred to genetics where a test was done and I was confirmed as having CADASIL. CADASIL is an acronym for (“Cerebral Autosomal-Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy”). This is a very rare genetic disease that affects the micro blood vessels in my brain and they fail over time and don’t function properly…. from what I understand. I’m having issues with executive functioning and was involved in a study at Health Science Center in Winnipeg, Manitoba, Canada for people with brain injuries and executive functioning where I have learned some tricks to make day to day life less stressful. There is no treatment for this disease, but some great info and support from the CADASIL group on FaceBook. I’m not looking for sympathy, but rather a way to educate others and bring awareness to this disease. Many people are being diagnosed with Multiple Sclerosis as it mimics some of those symptoms.

Thanks for taking the time to read this..

Robert

Sonia’s Story

Sonia Vernon Prim

Barrie, Ontario, Canada

Age 28 at diagnosis of CADASIL

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. 

Janet’s Story

Janet Mills

Casper, Wyoming

Age 49 at diagnosis of CADASIL

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. 

Karla’s Journey to a Diagnosis

Karla J. Smith

Mechanicsburg, Ohio

Age 40 at diagnosis of CADASIL

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.

My goal is to get the word out in any way possible.

KNOWLEDGE IS POWER!!

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!

In Memory of William C. Penry 1941-1999

In Memory of

William C. Penry 1941-1999

Father of Karla J. Smith

Written by Karla: My father passed away from CADASIL one week before my 29th birthday. He was 58 years old. It was not known that he had CADASIL at the time. On his death certificate it stated his cause of death was dementia. We allowed an autopsy to be done, not knowing that we would need that report someday. This report helped to diagnose me. I remember my dad as a very intelligent, strong, stubborn, and hard-working man. My mom, brother, and I watched him getting worse year after year. From what I recall, he started to show signs of CADASIL about ten years before his death. He never had a full stroke, but he had hundreds of mini-strokes. Each time he lost more of his memory, his balance, and other capabilities. We had to put him into a nursing home, and he just got worse and worse. One day the strangest thing happened: I was working a full-time job and something in my head told me to get to the nursing home right away. I told my supervisor that I needed to leave. I went straight to the nursing home and to my dad’s room. He had just passed away, and he was by himself. I was too late! For sure, my dad was extremely loved and is dearly missed.

This tribute was originally featured in the December 2012 issue of EMBRACE newsletter published by CADASIL Association.  Thank you Karla for sharing your Fathers story.