The story of Billie
Thank you in advance for reading this. Hi, I am known as Billie all over the world who deals with CADASIL. CADASIL is a rare genetic disease. I am very persistent person and would not stop researching this awful word CADASIL. The movie Lorenzo’s Oil was my inspiration, I started a website in 1997 when my husband was first diagnosed, and the internet said he would be dead in a year or two… The words came to me at 2 a.m. in the morning when my husband was so sick, that we have to work together for hope. This is when CADASIL Together We Have Hope was created. The demand was so much in 2005 we became a nonprofit, know worldwide, and now have an international scientific advisory committee. We have no paid staff. CADASIL stands for; Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy. We have two children. Our oldest daughter, Natalie who is now 30 years old has been diagnosed two years ago. She has two children, Aleaha 11 and Darrius 7. They now have the 50% chance of having CADASIL. What a legacy.
The word “RARE” in the dictionary means; not widely known, unusual and uncommon. This is why I am writing this to raise awareness regarding rare diseases with the public and the importance of research funding.
In the past 7 years, the nonprofit has just over 1,300 people with confirmed cases from all over the world, which includes 800 in the U.S.A, many of whom were misdiagnosed with other white matter diseases. With this dreadful disease, you have a 50 % chance of passing the gene to your children. There is no treatments or cure.
The nonprofit has become an encouragement of support for parents, families, and caretakers. People contact us wondering why there is no treatment or cure for this awful disease, plus it can be related to any other rare genetic disease. These are some of their thoughts, concerns, and fears.
• My adult child died yesterday, where could I donate his brain for research?
• My doctor and the neurologist were clueless and had to look it up.
• The diagnosis is scary. How do I cope with the fact that my life may be shorter than I anticipated?
• I am going to be tested for the disease, but I want to have my life insurance in place first.
• How can I explain what CADASIL is when no one knows about it?
• The Social Security Administration doesn’t recognize CADASIL. I’ve been unable to work. They’ve denied my disability claim three times now. What can be done?
• No Treatment or Cure why not?
• Medical doctors contact us concerning codes for testing or questions on how to treat a patient.
• I wish I wouldn’t have this disease, but my mother and grandmother gave it
• I have CADASIL and I am pregnant, help!
• What a legacy to past on to your children.
• Just let me die, as the pain is so bad. I have CADASIL and I am pregnant, help!
• No one can relate to this fear.
• It is our hope that by that time, my 11 and 8-year-old children get tested, that there is a treatment for CADASIL and hope for future generations.
• I don’t want to be a burden to my family or friends
• Many of us have been misdiagnosed in the past, but have finally found out the truth … I am trying to take this all in but to be frank,…… I am overwhelmed.
• I refuse to go to the hospital with a CADASIL stroke, they do not know what CADASIL is and the protocol for the ER is give me regular medicines to treat the stroke This is dangerous for me as this treatment can cause a blood clot in CADASIL patients and enhance the stroke.
• Each day we hope and pray that our 6-month-old son does not have an awful disease called CADASIL.
• She now believes there is very little to be done for her.
• Over 5 years of tests, poking and prodding, as well as countless MRIs and my health declining, I finally was diagnosed.
• I recently lost my beloved husband to CADASIL. It was the most exhausting, confusing, frightening 3 years of my life.
• What happens if my youngest daughter comes home from school and finds her daddy dead?
• This rare disease is wiping my family out and they die in their forties!
• My wife kicked me to the curb, as she did not want to cope with it.
• My wife, at the age of 40 years old, has a terminal illness called CADASIL, and my daughter and sons might have it.
• It’s a death sentence as there is no cure or not even a treatment.
• My husband doesn’t even want to talk about it because he cannot fix it.
• Sometimes I wish I could wake up from this and everything will be normal.
• I mourn each day on what I am loosing.
• Life goes on no matter what
• A copy of the MRI was given to me to review, as the doctor was not familiar with CADASIL, I thought doctors were supposed to know about this.
• The issue I am having is should I get tested, what benefit will I have from knowing definitively? Will any treatment plans change? I’m struggling with worrying that I’ll feel like I have a dark cloud over me at all times.
• Our 6-year-old grandson, Darrius threw a coin in a wishing well and closed his eyes.
He came back to us and said, “I wish it to make grumpy and mommy better”
People go all their lives without a mission or purpose in life. For over 15 years, I have been an advocate for CADASIL… from that frightening beginning of my husband’s diagnosis when only one item could be found on the internet regarding this rare disease to directing a nonprofit that promotes awareness, education, support, and research for CADASIL patients, families, friends, and health care providers. I am a very scared wife, mother, grandmother, and caregiver.
Thank you to my love of my life, Steve. Steve has CADASIL and has had three major strokes, tons of mini strokes, living every day with a migraine like headache, suffers with short-term memory loss and now going into dementia.
For all of us impacted by rare diseases, we have to work together and continue to have hope.