Huntington's Disease

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    Erin Paterson

    'Virgin River' Features Character With Huntington's Disease

    “Do you feel the representation of Huntington’s disease (HD) is accurate on ‘Virgin River’?” a close friend asked me today. As I sat in my living room, drinking my morning coffee and scrolling through Instagram, I thought about her question. Funnily enough, I had just finished watching the series, so the timing of her question was perfect. “Virgin River” is a show on Netflix and one of the characters was revealed to have Huntington’s disease in season four. In the show, we see him hiding his diagnosis from those around him. We also see him struggling to navigate the dating world. Is it really fair to get involved in a relationship when you know your future includes a terminal illness? Situations such as these are often the cause of a tremendous amount of emotional strife and can leave people from the HD community feeling isolated and misunderstood. Young people, especially, are faced with many moral dilemmas about how to live their lives, struggling to find acceptable solutions to questions that have no right answer. People are able to go through genetic testing to find out if they have inherited Huntington’s disease, but even that causes problems as people try to decide if they want to know what their future holds. It often consumes people’s lives. People who have decided not to go through genetic testing often live their lives in constant doubt, looking for symptoms of Huntington’s disease, wondering if every twitch of the foot or angry outburst is the start of the disease. Worried they are going to follow the same path their parent took. Caring for their loved ones who have HD, afraid that the same things are going to happen to themselves one day. People who test gene positive (meaning they inherited the gene and will get the disease one day) are suffering long before they have their first physical symptoms. It is mentally challenging living with the knowledge that you will get this terminal illness. People often experience anxiety and depression. They struggle to answer questions like, is it OK to have children knowing there is a 50% chance I could pass along the disease? Will people treat me differently if I tell them? How can I accept that I will need care from others when I get sick? People who test gene negative often feel like outsiders within their own community. They are still there to be caregivers, but somehow they are not able to grieve all they have lost because they are meant to be “the strong ones.” After testing gene negative, some people feel terrified of their futures because a life shadowed by Huntington’s disease was all they have ever known, and they can have a hard time imagining a new future for themselves. People are impacted by Huntington’s disease in so many different ways. I am certainly glad that “Virgin River” picked up on some of the sociological nuances of the disease. We are so often focused on the symptoms that you can see, such as chorea, but the fact of the matter is this disease impacts people’s lives long before that. I look forward to watching the next season of the show to see how this story develops and how the community of Virgin River embraces a young man impacted by Huntington’s disease. There are so many questions about his diagnosis that have not been answered and so many directions that story could go. No matter what happens in this particular storyline, I am incredibly grateful that the show put a spotlight on this rare disease. Not only are they raising awareness for Huntington’s disease, but they are also helping the people in the HD community feel supported and seen.

    Megan Glosson

    How Roe v. Wade Being Overturned Harms People With Health Conditions

    This past Friday, the Supreme Court voted five to four in favor of overturning Roe v. Wade. This landmark court decision from 1973 established the constitutional right to abortion. Now, individual states will get to decide whether or not they will allow abortion. People across the country are experiencing mixed feelings about this perplexing court ruling. However, many people, including the justices who voted in favor of overturning the court’s previous ruling on the matter, are not thinking about the way in which this decision will impact the millions of American women and people with a uterus who live with chronic health conditions. So, here are just some of the people the justices of the Supreme Court of the United States failed to consider when they overturned Roe v. Wade and all but outlawed abortion for over half of the states in our country. 1. The Transplant Recipients Whose Medications Make Pregnancy Problematic Although it is possible for a transplant recipient to get pregnant and carry a baby to term, there are many potential complications. First and foremost, many anti-rejection medications can cause birth defects that would make life unsustainable for the fetus. They can also build up to toxic levels in the fetus’ bloodstream, which can lead to other complications. Although there are some medications that are safe for the fetus, any change in immunosuppressants must be made gradually so doctors can measure if these medications are actually doing their job (because not every medication works for every person). Also, because medication levels are based on weight, pregnancy can impact the medication levels in a way that leads to organ rejection during the pregnancy, making it a life-threatening situation for parent and fetus. 2. The People Whose Autoimmune Disorder Could Cause Complications Many autoimmune disorders cause your immune system to attack healthy tissue. This means that a pre-existing autoimmune disorder can interfere with the pregnancy by harming the fetus. Even if the autoimmune disorder allows the pregnancy to continue, the mother’s antibodies can enter the fetus’s system and disrupt its development and growth. Furthermore, some people don’t even know they have an autoimmune disorder until their pregnancy triggers it. In these cases, a person may find that being pregnant is interfering with their life so much that it’s not possible to continue living while pregnant. 3. Those Who Live With a Genetic Disorder That Could Prove Fatal for the Baby Living with a rare disease is not an easy road. However, some genetic disorders can be fatal, and passing them down to a child can increase the risk of fatality for the baby. These conditions include Huntington’s disease, vascular EDS (vEDS), cystic fibrosis, Marfan’s syndrome, and many other genetic disorders that someone can either have or be a carrier for. Even if the baby makes it through delivery, they will have a hard life (assuming they can sustain life). 4. The People Whose Endometriosis Caused an Ectopic Pregnancy People with endometriosis are twice as likely to experience ectopic pregnancies than the average person. Unfortunately, there’s zero possibility of an ectopic pregnancy becoming viable, no matter what marvels of modern medicine an OBGYN can perform. Usually, ectopic pregnancies are treated with injections that end the pregnancy or surgery to remove the fallopian tube. Either way, these life-saving medical procedures can be considered forms of abortion, and would now be punishable by law in some states. This means that people could face jail time for something completely out of their control just because they chose to save their own life. And without Roe v. Wade, there’s nothing a person can do about it if their state’s court system decides to rule against them. 5. Those Whose Cancer Treatment Would Affect the Fetus Breast cancer is the most commonly occurring type of cancer for women, and breast cancer rates are on the rise for women of childbearing age. Unfortunately, many of the recommended forms of cancer treatment can cause harm to a fetus and are not compatible with pregnancy. There are instances where a pregnant person with cancer can either wait until after their child is born to undergo treatment or select treatment methods that are least harmful to the fetus. However, there are also times when someone may need to decide whether it’s better to end a pregnancy during the early stages so they can undergo cancer treatment, or risk bringing a baby into the world while also dying. It’s not an easy decision to make either way, but the overruling of Roe v. Wade now makes it even more challenging. 6. The People Who Live With Mental Health Conditions That Require Daily Medications There are countless mental health conditions that require daily medications. Some of these conditions include depression, anxiety, bipolar disorder, and schizophrenia. However, even with the wide variety of available medications out there for each and every single mental health condition, the American College of Obstetricians and Gynecologists still says a majority of these medications are not safe during pregnancy, especially during the first trimester. Whether a pregnancy was planned or unexpected, a pregnant person who uses one or more psychiatric medications may be forced to decide whether or not they want to expose their fetus to the risks associated with the medication. In many cases, these medications can cause harmful birth defects or even harm the fetus in a way that makes life unsustainable. Therefore, these individuals need as many choices as possible available to them, including the right to terminate the pregnancy if that’s what they and their medical team feel is best. 7. Those Whose Epilepsy Puts Them At Risk for a Stillbirth Women with epilepsy are up to three times as likely to have a pregnancy that results in stillbirth than women who do not live with epilepsy. Sometimes, there’s no way of knowing whether they will experience a stillborn birth, whereas other times an OBGYN may no longer detect signs of life before the pregnant person even hits the third trimester. Without the option to abort, these individuals will be forced to carry a pregnancy to term even though the fetus will no longer grow and develop. 8. The People Who Almost Died With Their First Baby and Don’t Want to Go Through That Again There’s a lot that is still unknown about how pregnancy impacts the body. Conditions like pre-eclampsia are largely undetectable until it’s too late, as are other rare pregnancy complications. However, people who experience these issues during their first pregnancy are more likely to experience them again. This means a person may take active measures to avoid additional pregnancies. Unfortunately, no form of birth control is foolproof, and a person can still end up pregnant even when actively avoiding it. Should these individuals have to go through the same hell they endured during their first pregnancy if they don’t have to? And is that really someone else’s choice to make? 9. The Trans Man Who Would Struggle With the Dysphoria of a Pregnancy Thanks to the advances in modern medicine, trans men can do many things to counteract the gender dysphoria they experience. However, up to 30 percent of trans men still experience unplanned pregnancies. These pregnancies can lead to depression and other concerns due to the mixture of dysphoria and judgment from society. Before the overturning of Roe v. Wade, trans men could decide whether or not they wanted to go through with a pregnancy. Now that it is overturned, trans men in states with abortion laws in place may have no choice, and this combined with the stigma they likely already face due to society’s general view of the trans community in their geographic location, could cause depression and suicide rates to climb even more. This list isn’t exhaustive. However, it does provide a view into just how many people will be impacted due to the Supreme Court’s decision to overturn Roe v. Wade. In many cases, people who live with health conditions are already marginalized and mistreated by medical providers and society as a whole. Now they may face even more problems and harsh judgment just for making decisions that can help them continue to live. This isn’t the type of treatment anyone deserves, especially people who already have to fight for their right to live day in and day out.

    Erin Paterson

    What It's Like to Be Infertile When You Have a Rare Disease

    I slipped my cell phone into my back pocket and headed down to the cramped washroom in the basement for a little privacy. With shaking hands, I called into my voicemail and listened to the now familiar voice of the nurse: “Your pregnancy test came back negative. I am so sorry. Dr. Weiler would like you to come back on day two of your cycle.” Damn it! All the pent-up energy I had been holding in my body, my tense arms, my tightened chest, immediately released. I felt a tingling sensation in my deflated torso. My eyes welled up, about to brim over. I needed to sit down. It would have been nice if my husband and I were together to hear the news, but it never worked out that way. I didn’t want to keep him waiting any longer; he was just as anxious to find out the results. As I was sitting on the closed lid of the toilet I dialed his number. “Hey, babe,” he said. “It didn’t work,” I blurted out, the sobbing I had been trying to control starting up instantly. “Crap . . . I am so sorry.” He had nothing to be sorry for, but what else could he possibly have said? I sat there with my elbows on my knees, head down, palm pressed against my throbbing forehead, cell phone next to my ear. Unable to respond. “It’s going to be OK, babe,” he said. The tears dripped from my eyes onto the green linoleum floor. I wiped my nose with the rough toilet paper. “But it’s not! It’s not OK.” Month after month I had gotten this exact same call from the nurse saying we weren’t pregnant. It was getting harder to deal with as time went on, as we invested more of our lives, more of our emotional energy, and more of our money into the process. Each month the loss was even greater as our history with infertility grew longer. “It’s too hard,” I said. I could hear the telephone ringing in the shop upstairs. “I know, Erin, but we’ll figure this out together, OK?” he encouraged. “Yup,” I squeaked. My crying slowly subsided and I took a deep breath. “OK, get back to work.” “Are you sure?” he replied, uncertain whether he should let me go. “Yup, it’s OK. You need to get back to work.” “OK. I love you. You’re the best.” “I love you too,” I replied and hung up the phone. I sat for a while longer on the toilet seat before getting up to look at my tear-stained face in the mirror. Puffy and red. Eventually I made my way back upstairs and tried to focus on my job for the rest of the afternoon. My husband and I would have two days to feel down about yet another failure before we pulled ourselves back together and psyched ourselves up to start the whole process again. Each month was an emotional rollercoaster ride. With each new round of fertility treatments, I had to reevaluate how I felt about the fact that I was gene positive for Huntington’s disease (HD). I would ask myself if I was still OK with the risk of passing on the gene to our baby. I don’t think my husband thought about it as much as I did. I felt that the responsibility was mine to bear. I still believed it would be my fault if our baby got Huntington’s disease, and my husband continued to reiterate that he didn’t think this was the case. I would constantly think about the decision I had made to get tested for Huntington’s disease and about my own child having to make that same horrible decision. I knew I would not be able to protect my child from that. I was afraid they would blame me and come to hate me. It was torture having to think about HD all the time when what I really wanted to do was ignore it. It was hard to stay positive when I was constantly thinking about my future with disease and trying to navigate my present with infertility. Especially since I was on a large number of drugs that made me an emotional basket case. It didn’t help that most people in my life didn’t know what was going on. I felt safe enough to confide in a handful of friends, but I didn’t want to tell our families. I felt defective, and I didn’t want anyone to know there was something else wrong with me. Huntington’s disease and now infertility. This was the second blow to my identity, to my sense of self. I especially dreaded telling my mother-in-law. Why would she want a daughter-in-law who couldn’t provide her with grandchildren? I didn’t want to give her a reason to tell her son I wasn’t good enough for him. This was something I was already feeling, and I was terrified of someone confirming what I believed to be true. Dr. Weiler hadn’t found anything wrong with my husband, so I blamed myself. I blamed my body. But still we continued on. An excerpt from “All Good Things: A Memoir About Genetic Testing, Infertility and One Woman’s Relentless Search for Happiness“

    Erin Paterson

    Taking Back Control After Receiving a Genetic Disease Diagnosis

    I was sitting next to my husband in a sterile hospital room. I was so nervous; pools of sweat had already gathered beneath my arms. The genetic counselor, across the table from us, removed a piece of paper from the white envelope in her hand. She knew we were anxious to hear the results, so she got right to the point. “You have tested positive for the gene that cause Huntington’s disease” she said. I didn’t say anything right away. I just nodded and glanced quickly at my husband. I didn’t want to cry because I knew once I started, I wouldn’t be able to stop. Inside my head I said, CRAP! That’s what I thought, and I just sat there. In those moments I knew that my life would never be the same. It would be spent living in limbo waiting for the day when Huntington’s disease started to affect my body and my brain. What is the point of living if I’m just going to become a burden to everyone who loves me? I thought to myself. Huntington’s disease (HD) is a neurological condition that slowly kills nerve cells in the brain, causing cognitive impairment, uncontrolled movements and emotional issues. Being diagnosed as gene positive for HD means I have the genetic mutation that causes the disease. I will get HD one day; I just don’t know when the symptoms will start. In the months following my diagnosis I fell into a deep depression and struggled to move on with my life. I couldn’t imagine ever feeling better again. No matter where I went, I was constantly being bombarded by images, people and things that reminded me I was going to get HD. Like an old man on the street with shaky hands that I observed at thoughtful distance, or a random twitch of my foot leaving me to wonder if that was how it all started.  Still in shock I’d repeat the same phrase over and over again in my mind, I am going to get HD, I am going to get HD. I couldn’t believe what was happening to me. I felt like I had lost all control of my life including my future. Even though it seemed like an impossibility, I began asking myself an important question, how am I ever going to be happy again? There were many places I turned to in my search for answers. I read books about people struggling through hardships and listened to documentaries on the radio. I talked to my closest friends and started going to group therapy. In each place I looked I learned a little something and tried to apply it to my life. Through sheer determination I forced myself to examine what I was afraid of. This included my thoughts and feelings around having children now that they were at risk of inheriting the gene from me. Was it morally correct to have a child now? I asked myself. One emotionally pain filled day after the next I started inching my way back towards the happiness I remembered existing in my life. My husband and I even started planning for our futures again. The one thing we decided was settling down and having the family we had always dreamed would make us happy. There were many things we were still struggling to come to terms with, but we were taking back control of that part of our lives. Has a medical diagnosis left you feeling like you have lost control of your life? What did you do to regain some control of your future?

    Brian Fu
    Brian Fu @brian-fu
    contributor

    I'm Afraid I Have Huntington's Disease

    Looking back on all the articles I’ve written the past couple of years on The Mighty, you can get a pretty clear picture of what life has been for me: mental illnesses that started and got worse with time, cognitive impairments that led to difficulties in school and movement disorders that persist and worsen to this day. It’s a picture of love, loss, fear, challenge, perseverance and uncertainty. But through it all, I thought I was just fighting multiple fights, all disconnected from each other. Well, that may not be the case. There may be an answer that would connect every medical issue, every diagnosis, I’ve ever received, into one perfect diagnosis. And it terrifies me. I’ve lived with bipolar disorder, anxiety and ADHD as diagnosed mental illnesses for many years now. Physically, I have tardive dyskinesia, dystonia and was temporarily left unable to walk safely due to vestibular ataxia. For the past three years I’ve struggled with all of these things, in addition to the difficulties of being a young adult in college. To say it’s been a lot would be an understatement. My movement disorder has been getting worse and spreading to other parts of my body recently, so I discussed this with my doctors and therapist, and an idea has emerged as to what it might it be. I’m 22. I’ve been accepted to a seminary in Washington D.C. and am pursuing becoming a pastor. I have 60, 70 years of life left to live, and I want to live all of those years without regret. But if I have what my doctors suspect I have, I will not get to see all of those years. What is this mystery diagnosis, one that can explain my mental illnesses and movement disorders at the same time? Huntington’s disease (HD). HD can first start presenting as mental health issues, like bipolar disorder and depression. Cognitive issues follow, things like problem-solving, memory, attention and learning all become more difficult. Eventually it begins to affect movement with involuntary tics. Sounding familiar? HD generally first presents in people in their 30s-50s, but it actually can begin at any age. A small proportion of HD patients occur before the age of 20, and it is known as juvenile HD. It also generally is passed down by family members who had it, and with no family history (that I know of) of HD, you would think that would answer the question. The issue: about 1 in 10 cases of HD occur in people with no known family history of HD. I could get into all of the genetics and science of that (the downside of being a science major in college right now), but I’ll spare you. Here’s the point I’m trying to get across. No one is immune from HD, but most people don’t get HD obviously. A lot of people experience the first symptoms of it: mental illnesses impacting mood, behavior and cognition. A lot of people also experience the later symptoms: involuntary movements, muscle contractions, tics, etc. as parts of unrelated disorders. But people who experience all of it, in the order I have? It looks a lot like HD. So what’s the process now? I have an appointment with my neurologist to evaluate me entirely to see if I am presenting enough HD symptoms to warrant further testing. But just based on how we’ve been talking, she seems to be concerned at its likelihood. One beauty of HD is that it a diagnosis can be definitively confirmed with a genetic test. Again, I will spare you the genetics of it (I think it’s interesting, but this isn’t a science journal article). After I get the clinical evaluation with my neurologist, chances are she will order some bloodwork to get the genetic test. And at that point, it’s a waiting game. But here’s my question: what am I supposed to do now? How am I supposed to focus on classwork, finals, papers, projects and the normal stresses of being a college student while I have the fear of getting a diagnosis of HD hanging over me? HD has an average prognosis timeline of 10-30 years. I’m 22. If I follow that average, I’ll get to 37. How am I expected to focus or work on anything with the thought of having 10-30 years left? For those of you who have read my articles for a while, you’ve come along with me on my mental and physical health journeys, and you know how complicated it all has been. This is my next chapter of my life, medically. It’ll be a month or two before I start getting any real answers, and you already know that once I do, I’ll write an article about it either way. Overall, being this young, waiting to hear about a diagnosis like HD, it makes it difficult to think about anything else. And that’s not even considering actually dealing with the physical challenges, the tics and the mental illnesses. It’s anxiety provoking, it isn’t fun and it’s scary. As much as I can keep grounding myself, reminding myself to live in the current moment and not let the future get in the way of my present, this is different. This is different from anything else I’ve had to deal with. And because this is different, I don’t have any experience to rely on how to process all of this. But here is what I do know. The unknown is scary for just about everyone, no matter what it is. This kind of unknown is uncharted territory for me, so I have to learn my way through this new challenge. And if the time comes that I do have HD, that will be another new challenge that I will have absolutely no idea how to process. But just like I’ve done with everything in my life, I’ll cross that bridge if we come to it. I’ve never let anything that’s come my way take me down so far. This fear of a potential HD diagnosis is not going to be what brings down everything I’ve built over the past 22 years of my life. This fear won’t win. I will accept and process reality, whatever it is, when I have clearer answers. Besides that, I continue to push, fight, because I want to live the best life I can.

    5 Things You Should Know About Huntington's Disease

    The brain controls all our actions — decisions, thoughts, speech, movements and more. This means any issues or damage to this complex organ can have a big impact, whether through disease or physical trauma. One of the conditions that affect the brain is Huntington’s disease. Huntington’s disease (HD) is a fatal genetic disorder that causes nerve cells in the brain to break down over time. As HD progresses, people can lose the ability to move and their personality can change drastically. There is no cure for HD, and one medication is approved to specifically treat involuntary movements from HD, tetrabenazine (brand name Xenazine). There is a 50% chance the gene mutation that causes Huntington’s disease will be passed down from parent to child. Mighty contributor Lynne Neveu wrote about what it is like for her to watch her mother live with progressive HD symptoms as someone who also tested positive for the gene: Every daughter wants to be a tireless advocate and support for their parent during their final years, however, that is an incredibly difficult undertaking for me. Despite everyone’s optimism about modern medicine, it’s pretty certain that as I watch my mom die I am getting a preview for my own death in 25 years. Here are five things you should know about Huntington’s disease. 1. There’s a 50% chance Huntington’s disease will be inherited. Huntington’s disease is a genetic condition and is inherited as an autosomal dominant trait, which means you only need one copy of the mutated gene to get the condition (instead of two). If a parent has the genetic mutation for HD, there is a 50% chance that their offspring will inherit the condition. The disease is caused by mutations of a gene found in chromosome 4. Around 30,000 people in the United States have HD, and around 200,000 more people are at risk of developing the condition. Huntington’s disease is more common in people who have European ancestry. It affects between 3 to 7 in 100,000 people of European ancestry and tends to be less common in people of Japanese, Chinese and African descent. There are two types of HD, adult-onset Huntington’s disease and juvenile-onset Huntington’s disease, with the juvenile form being less common. 2. Symptoms tend to appear between age 30 and 50. Like many other conditions that affect the brain, people with Huntington’s disease may experience a variety of physical and mental symptoms. As HD progresses, people may have difficulty with and lose the ability to think logically, walk and speak. Aggression is a commonly reported symptom of HD, which can be managed through different therapies. Early symptoms of HD may present themselves differently in people who have adult-onset HD and those who have juvenile-onset. Adult-onset HD may cause people to become depressed, have small involuntary movements, and have trouble with decision making. Symptoms tend to appear between the ages of 30 and 50. According to the Mayo Clinic, some early physical and mental symptoms of juvenile HD include difficulty paying attention, behavioral problems and seizures. In the middle stage of HD progression, people may lose the ability to work and may need assistance to take care of personal hygiene, according to Huntington’s Disease Society of America (HDSA). Twitching movements, also known as chorea, become more prominent. People may also experience personality changes, which also occurs in conditions like dementia. When people have late-stage HD, they often become nonverbal and require assistance in all aspects of their life. Psychiatric symptoms may also be harder to manage at this stage. People with adult-onset HD usually live around 15 to 20 years after symptoms first present themselves, and people with juvenile-onset HD usually live 10 to 15 years after signs of HD first appear. 3. Prenatal testing can detect Huntington’s disease. A diagnosis of HD later in life may be determined through clinical evaluations, a patient’s history and different specialized tests. According to the National Organization for Rare Disorders (NORD), these tests can include computerized tomography (CT) scanning, magnetic resonance imaging (MRI) and electroencephalography (EEG). Prenatal testing can show whether a fetus has the mutated gene that causes Huntington’s disease. The National Genome Research Institute says to test the fetus for this trait, “DNA is extracted from fetal cells via CVS (chorionic villi sampling) or amniocentesis.” Doctors may consider Hallervorden-Spatz disease, multiple system atrophy and Sydenham’s chorea while in the process of a differential diagnosis with HD due to overlapping symptoms, according to NORD. 4. Treatment focuses on managing symptoms. There is no cure for Huntington’s disease, which is considered a fatal disease. Treatment for HD mostly focuses on managing symptoms and offering support. Neuroleptic medication such as haloperidon may help manage involuntary movements in early stages and medication could help manage mental health symptoms, according to NORD. For those looking for support, HDSA offers support groups for people with HD and caregivers. Tetrabenazine (brand name Xenazine) is one medicine approved by the Food and Drug Administration (FDA) specifically to treat involuntary movements from HD. Tetrabenazine comes in a tablet and is typically taken three times a day, according to Medline Plus. Without insurance, the cost of tetrabenazine for a one-month supply is around $16,128. Huntington’s disease patients on tetrabenazine may experience adverse psychiatric side effects like depression and suicidality. In a controlled trial, nearly 20% of patients receiving tetrabenazine experienced worsening depression in comparison to none in the placebo group. Other available medications can help manage additional HD symptoms. 5. There are resources to support patients with HD. If you live with Huntington’s disease or a loved one has been diagnosed with the condition and you want more resources to help manage your life with the condition, Huntington’s Disease Society of America (HDSA) has articles on its website to help you navigate disability services, nutrition and more. While there are not many treatment options now for HD, research is constantly being done. You can stay up to date on HDSA’s blog. For more insight on living with Huntington’s disease, check out the following Mighty articles : What It’s Like to Test Positive for a Rare Disease and No One Understands How You Feel How I Reclaimed My Life by Performing Onstage As Someone Who’s Gene Positive for Huntington’s Disease When You Feel Like You’re Out of Options to Become a Parent Because of Your Rare Illness

    Community Voices
    Community Voices

    It’s SMA Awareness Month, so I’m going explain everything I can about SMA. And yes, I have a type of SMA. This is quite long and in depth but please take the time to read it and share if you’d like. To clear things up, I do not like the term “disease” when talking about SMA, I prefer condition but for science sake, they use disease in the medical articles.

    What is SMA?

    SMA is short for #SpinalMuscularAtrophy, it’s an autosomal recessive neurodegenerative disease characterised by degeneration of spinal cord motor neurons, atrophy of skeletal muscles, and generalised weakness.
    Big words, I know so let’s break that down so you all can understand before we get to the good stuff.

    Autosomal Recessive – it’s one of 7 ways that a trait, condition, or disease can be inherited. Two copies of an abnormal gene must be present in order for the condition or trait to develop. This means one abnormal gene from mom and one from dad. If only one parent passes the abnormal gene, you get a carrier. (See the picture below)

    Carrier – they have the abnormal gene but are unaffected or don’t have the trait but, they can pass it onto their children.

    Neurodegenerative Disease – is an umbrella term for a range of conditions which primarily affect the neurons and their functions in the human brain. They are incurable and debilitating conditions that result in progressive degeneration and/or death of nerve cells. Some examples are, but not limited to –

    #AlzheimersDisease (AD) and other dementias

    #ParkinsonsDisease (PD) and PD-related disorders

    • Prion disease

    • Motor neurone diseases (MND)

    #HuntingtonsDisease (HD)

    • Spinocerebellar #Ataxia (SCA)

    • #SpinalMuscularAtrophy (SMA)

    Neurons – Neurons are the building blocks of the nervous system, this includes the brain and spinal cord. Neurons normally don’t reproduce or replace themselves, so when they become damaged or die they cannot be replaced by the body. Basically, they are VERY important little dudes.

    Atrophy – the general physiological process of reabsorption and breakdown of tissues, involving apoptosis. In SMA, the muscles atrophy.

    SMA is caused by homozygous disruption of the survival motor neuron 1 (SMN1) gene by deletion, conversion, or mutation.

    Homozygous Disruption – homozygous literally means you inherited two identical versions of a gene. Something, usually a deletion, happens to the SMN1 gene on chromosome 5q and results in insufficient levels of SMN protein in motor neurons

    SMN1 – The SMN1 gene provides instructions for making the survival motor neuron (SMN) protein. The SMN protein is found throughout the body, the highest levels are in the spinal cord. This protein is one of a group of proteins called the SMN complex, which is important for the maintenance of specialized nerve cells called motor neurons. Motor Neurons are located in the spinal cord and the part of the brain that is connected to the spinal cord,the brainstem. Motor neurons send signals from the brain and spinal cord to tell skeletal muscles to tense (contract), which allows the body to move.

    Okay, now the good stuff and I hope you’re still with me lol. Now, there are subtypes of SMA, because why not complicate things lol right? So let’s go into those subtypes as easily as possible.
    In chromosome 5-related SMA (there are rare cases where SMA occurs differently), the greater the number of SMN2 gene copies (yes! There’s a backup gene, but only produces about 10% of the SMN protein) a person has, the more functional SMN protein is available, and thus, the later the onset of disease symptoms and the milder the disease course.

    SMA type 0 – also called prenatal onset SMA, is the most severe form of SMA. It affects a baby that is still in the womb. It can be fatal before birth and is almost always fatal within the first year of life. It’s characterized by a decrease in fetal movement during pregnancy. At birth, patients with SMA type 0 present with severe weakness and #Hypotonia (abnormally low muscle tone). Often, these patients present with lack of reaction to stimuli, facial diplegia (#FacialParalysis), and congenital heart defects.

    SMA type 1 – also called infantile onset or Werdnig-Hoffmann disease. When SMA symptoms are present at birth or by the age of 6 months, the child is classified as a type 1. Babies typically have generalized muscle weakness, a weak cry, breathing distress, difficulty swallowing and sucking and don’t reach the developmental milestone of being able to sit up unassisted. These babies have increased risk of aspiration and failure to thrive. Typically, these babies have two or three copies of the SMN2 gene.

    SMA type 2 (this is my type) – also known as intermediate SMA or Dubowitz disease. When SMA has its onset between the ages of 3 – 15 months and before the child can stand or walk independently, they are classified as type 2. Children with SMA type 2 generally have three copies of the SMN2 gene. Muscle weakness is predominantly proximal (close to the center of the body) and involves the lower limbs more than the upper limbs. Usually, the face and the eye muscles are unaffected. They may have respiratory difficulties including hypoventilation (breathing at an abnormally low rate) in sleep. Some also need mechanical ventilation. Many experience tremors of the hands and tongue (I have this) and #Scoliosis extremely comm(curvature of the spine, again I have this). The progression of this type is variable without medical intervention. Life expectancy is reduced but most individuals live into adolescence or young adulthood.
    Many of us with type 2 have very big differences in our weakness. Some people my age can still be somewhat independent, I am not. Some don’t need a Trach and ventilator and some do, myself included.

    SMA type 3 – also known as #KugelbergWelanderDisease. Patients develop symptoms after 18 months of age and can walk independently. They first show difficulty walking and running, climbing steps, or rising from a chair. The proximal leg muscles (closest to the torso) are most often affected first, with a #Tremor seen in the hands.  Complications include #Scoliosis and joint contractures—chronic shortening of muscles or tendons around joints–caused by abnormal muscle tone and weakness, which prevents the joints from moving freely.  Individuals with SMA type III may be prone to respiratory infections, but with care most have a normal lifespan.

    SMA type 4 – symptoms develop after 21 years of age, with mild to moderate proximal (center of the body) muscle weakness and other symptoms. Patients are able to achieve motor milestones and maintain their mobility throughout life. This type accounts for less than 5% of overall SMA cases.

    SMA is the most common genetic cause of infant death. In the United States, approximately 1 in every 11,000 babies are born with a type of SMA.
    And an estimated 1 in 40 people are carriers of the gene.
    In Canada, approximately 1 in 6000 babies born are affected, and about 1 in 40 people are genetic carriers. Sensation and the ability to feel are not affected. Intellectual activity is normal and it is often observed that patients with SMA are unusually bright and sociable.

    As I said before, SMA is a genetic disease where both parents are carriers. 2 carrier parents have a 25% chance of having a child with SMA. Then a 50% chance of having a child that is a carrier of SMA. And finally, a 25% chance of having a child that is not a carrier and also does not have the disease.

    If you have made it this far, I hope this sort of explains #SpinalMuscularAtrophy a bit more and if you have questions, please ask.
    #SMA #SpinalMuscularAtrophy #RareDisease

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