Saturday, July 18, 2015

Huntington's Disease

My week has been filled with an array of emotions. Monday, I accompanied my mother to her neurologist appointment for him to read the results of her previously taken blood test.

A few months prior-
Mom had been off balance and fell, twice within two days. This resulted in a trip to the emergency room. She was feeling pain in her left shoulder, right ankle, had minor hip and knee pain, and bruising. The x-ray tech told Mom this was the most amount of x-rays he performed on one person, that night. While we waiting in the ER, I noticed Mom continually moving her hands and feet, so I asked why. Was she in pain? She looked down, noticed, and said she was not aware they were moving.

The ER doc cleared Mom of any fractures, but recommended follow up with her Primary Care Physician. The subsequent barrage of tests, scans and appointments for Mom's falls, and now the involuntary movement, result in a torn rotator cuff and a badly sprained ankle. They give Mom a walker to help with her balance. They send her for blood work to test for Huntington's Disease.

Back to Monday-
We arrive at the neurologist, he reads the results from Mom's blood work and confirms that Mom tested positive for Huntington's Disease. He is kind and patient, answering my many questions on how this will effect my mother long term. Huntington's is a disease that causes the progressive degeneration of nerve cells in the brain. It has a broad impact on a person. Sufferers can loose their ability to speak, swallow, and use facial muscles. It effects cognitive function and memory loss, which leads to dementia. It effects the entire body, causing muscle spasm and involuntary movement. At it's worst, as it progresses most people cannot speak, smile, swallow, write or walk.

There is no cure.

HD is diagnosed from a repeat gene. At the repeat count of 40, you have the disease. Mom's count is a 41. She has a mild case that onset late in her life, she is 74. It has taken this long to show the outwardly recognizable signs-- constant and involuntary hand and feet movement. 

When I think the doctor is done speaking words that will forever change my life, he tells me that there is a 50/50 chance I now have the rare disease. I may have been passed down the abnormal gene from my mother, or received the normal gene from my father. Doc turns to Mom and asks if she has other children, as they have the same odds.

Fear takes over. My sisters.

The doctor recommends we three siblings be tested for HD, and kindly offers to write a letter to my insurance company to try to bring the giant cost of the test down because it is now not a sporadic voluntary test, it is doctor recommended. He states we could be carriers and may ethically be effected in our decision to have children in the future. We could pass the disease down,  our children would then have a 50/50 chance of carrying the abnormal gene. Just because the disease onset with my mother late in life, it could effect each of us differently. She may be a 41 count, whereas any of us could be an 80. Once the disease onsets, life expectancy is 20 years. Doc doesn't know my 19-year-old daughter is now pregnant, and this information has come 30 weeks too late for her, and 20 years too late for me. My heart breaks as I think of my unborn grandson. 

I drive home in a daze, with tears streaming down my face. I arrive home and tell my husband that our lives may forever be altered. There is a 50% chance I will slowly lose my memory and be trapped in my head with no ability to smile or write. His response is not with panic, but rather calm. He says if I do have HD, we will live life amazingly for the next 20 years while I can remember it. We will travel the world and go on adventures. When HD truly onsets, not to worry, he is made for this (my husband had a chronically ill father he cared for).  He assures me that in the eleven years we have been together that one thing is certain, we are good at handling crazy and we will deal with whatever comes our way, together. He is my hero.

My next action is to tell my sisters. One is in Chile, and we have to message her the news. The other says she is focused on another pressing health issue and will have to deal with any panic and worry when her blood test results are in. 

I spend the next several hours trying to find out the cost of and schedule my blood test. My insurance can't find the cost without the testing code. I call my PCP who doesn't know to what "code" they refer, and recommends I call the lab. I spend half hour trying to reach someone at the lab, where they say the PCP provides the code, and recommend calling him. I am in a downward spiral and caught in the system. I have had enough of phone tag, and decide to schedule an appointment with my doctor to see him face-to-face. His first appointment is in two long days.

I am not handling any of this well and find myself in tears or yelling. (A friend once told me if I feel like yelling, I should yell. So I let it out.) I begin researching the disease on every website possible and make the mistake of searching #huntingtonsdisease on Instagram to see how the disease effects other people. One 15-second video and I am scarred for life. I watch a girl my age toddle with a walker. I am horrified at the potential future for my sisters, daughter, grandson, and myself. I find it impossible to focus at work. My boss is kind enough to free me for as many days as I need. I escape to the ranch where I volunteer. I spend up to 10 hours a day the next two days working with the animals and horseback riding. My goal: physically work my body to it's limits. Raking, cleaning, pulling horses, tacking, riding and pushing full wheel barrels until I pass out at night from exhaustion. Leaving me no time to think.

Thursday is my doctor's appointment. I arrive early, and he sees me immediately. He briefly tells me they have looked into the testing, and don't know where to send me to get my blood work done. I am appalled. I ask him for a referral to my mom's neurologist, because at least he knows where the tests came from. I also ask for a referral for my sister while I am there, as we see the same PCP and she is in the same position as I. Doc complies and gives me the referral paperwork to take to the front desk. The lady there advises me it can take up to 48 hours to process the paperwork to the referring doctor, and it will take them a few days to call me. I ask if I can simply walk the papers to the building next door, where the neurologist office is located. She replies no. My anxiety is climbing, so I decide to walk over anyway and speak to the neurologist myself. Oddly, my sister is in the building finishing an unrelated appointment, and she meets me at the front desk where we plead our case together as a united front. The receptionist calls the nurse up. We tell her our situation, she relays back that their office just reads the test results and do not actually order them, but she will speak with my mom's neurologist to see what they can do for us.

More waiting.

Mom has had her shoulder surgery scheduled for Friday. I've missed much work, and thought I would feel okay letting my sister handle the outpatient surgery, and just see Mom later in the day. But, I am wrought with panic and decide to go to the hospital with them. During the two hours Mom is in surgery, my sister and I spend some time in the waiting room, talking through our feelings of panic, dread and fear. We cry together and hug to comfort each other. Everything goes well in surgery and Mom will be staying with my sister for a few days. The nurse gives at home instructions and tells us Mom cannot lift her arm up for four weeks. I ask how Mom will use her walker. The nurse says she can't use it. Mom isn't the type to sit still for four weeks, so we will have to figure out a solution. While I am waiting with Mom, I miss a call from the neurologist's nurse. She leaves a minute and a half long voice mail message. When I try to listen to it, not a word is coherent, it is as if she has called from a cell phone with poor connection. I call her back, frustrated that I missed the call and can't make out the message, only to find out from the receptionist that the nurse has left for the weekend.

When I visit Mom later in the afternoon to see how she is feeling, Mom is all smiles and lucid. She is feeling fine from the surgery, her shoulder block still working so she is feeling no pain. While I am sitting at her bedside, I open up the discussion on the disease. 

Mom tells me she has known her entire life that her family suffered Huntington's Disease. It has been passed down from the Vieira's, her father's side. Her father's mother had memory issues and once wandered from the house. A year later on Thanksgiving, hunters found her body. She had fallen into a creek. The water preserved her body and leaves covered her head. Her father's two brothers and three sisters all suffered the disease. Each unstable walking and with memory issues. We do not know if they were ever tested, or if the disease was named back then. Mom also says her sister has recently been diagnosed with the disease. I asked Mom if she knew her entire life there was a 50% chance she has HD, why she decided never to be tested? Mom replies with calm and confidence, she'd rather live a full life and if she began showing signs, she would know she had HD and deal with it then. Maybe she would be diagnosed, but the disease would onset late in life and mildly (as the case happened to be). Why spend years panicking? It isn't like cancer, where early detection can mean the difference between life and death. There is no cure for Huntington's Disease. 

This information blows me away. How could she not want to know?

I find out, via my sister, that three of my cousins know that my aunt has tested positive for Huntington's. They all have decided not to be tested either.

I digest this new information and call my father. He is surprised by the knowledge that the Vieira family had the disease. He always knew they were a bit off with their balance and memory, and secretly called it the "Vieira Quirk" not knowing it was an actual degenerative disease. Dad recalls my mother's grandmother wandering into the woods. I tell Dad that after my conversation with Mom, I am considering not being tested and ask his opinion. Dad and my Step-Mom, who is the background, whole hardheartedly agree. He says that they have been researching HD the entire week since they found out it effects us, his three daughters. He says there is no preventive measures nor cure. That we have already been affected by HD because Mom has been diagnosed, we do not need individual tests to prove that life is precious and we should live it to it's fullest.

I've opted not to get tested. Not to let this define me. I've called my sisters, and we are all in agreement. All of us refuse to live a life full of dread at the knowledge, but live differently and as if we do have HD.

I am going to be brave, while I can still choose to do so. 
I will enjoy every little moment, while I can still remember them. 
I will write, knit, paint and remodel frequently, while I still have use of my hands. 
I will laugh and smile often, while my face muscles still react. 
I will cherish my time with my daughter and grandson. Because they may be carriers too. Each precious moment is now amplified. 
I will adore my mom's smile, letters, and hugs.
I will spend my time raising awareness and hoping to find a cure for Huntington's Disease. You can start educating yourself or donate here:  

                                   Photo taken from Instagram #HuntingtonsDisease

I will never see this test result, powerfully confirming that I do not have Huntington's Disease. Nor will I feel the immense relief associated with it. But I will also not see the flip side, and know the feeling of sheer panic and dread if those few small letters read

The suicide rate doubles for those that have been positively diagnosed with HD. I've lived 37 years without the knowledge, and oh how ignorance is bliss. I thank my mother for not telling me. I thank God for giving me the time and ability to reach this decision on my own. For not having the insurance company, doctors offices, or lab know where to send me to be tested; and for scrambling the nurse's minute and a half long voice mail message. It's contents will remain unknown.