{"id":4636,"date":"2023-09-28T21:32:41","date_gmt":"2023-09-28T21:32:41","guid":{"rendered":"https:\/\/blog.geneticsupportfoundation.org\/?p=4636"},"modified":"2023-09-28T21:32:44","modified_gmt":"2023-09-28T21:32:44","slug":"mitochondrial-disease-in-the-news-the-darker-reality-of-living-with-a-rare-disease","status":"publish","type":"post","link":"https:\/\/blog.geneticsupportfoundation.org\/index.php\/2023\/09\/28\/mitochondrial-disease-in-the-news-the-darker-reality-of-living-with-a-rare-disease\/","title":{"rendered":"Mitochondrial Disease in the News; the darker reality of living with a rare disease"},"content":{"rendered":"\n

By Devin Shuman (she\/her)<\/p>\n\n\n\n

Living life as a genetic counselor with mitochondrial disease may appear to mostly involve taking selfies with mitochondria jewelry and plushies from etsy. And while that might be a defining part of my rare disease lived experience, there are three current news stories that highlight the darker side of my rare disease truth. If you work in the world of rare diseases, then I urge you to follow these stories closely. Because while these stories may seem so horrific that they must be outliers, I can sadly assure you \u2013 these stories are all too common for rare disease families.<\/p>\n\n\n\n

Some of you may have followed Charlie Guard\u2019s story years ago<\/a>, as the world watched two parents fight a public health system to try and save their son\u2019s life. Charlie Guard<\/a> had the same form of mitochondrial disease that I do, mitochondrial DNA depletion syndrome<\/a>, and all his parents asked was permission to take their son to the US to work with the doctor my family sees, to give him a new drug that was the last hope at saving his life<\/a>. Our community cried alongside his parents as they watched their son die, knowing that there was a doctor and drug that could have possibly extended his life, yet they were blocked by their government. We all hoped that the world would learn from the heart break of this family\u2019s grief, and yet \u2013 here we are watching it happen again.<\/p>\n\n\n\n

Recently a teenager<\/a> and an infant<\/a> with mitochondrial DNA depletion syndrome in the UK are again being told they are too sick to be allowed to travel to North America to access a drug that is available and has saved children\u2019s lives all over the world. I have personally watched as kids gained the ability to walk, talk, and have the trajectory of their health dramatically changed by access to mtDNA depletion syndrome treatments<\/a>. And yet, two more families are being told their child\u2019s lives aren\u2019t worth trying to save as they are on a ventilator<\/a> and feeding tube. The government is citing the wellbeing of the child and \u201cprolonging their suffering\u201d as the reasoning behind blocking treatment. They are essentially citing the lives of myself and my friends as examples of suffering. The rare disease truth is that this is just one of thousands of examples of a government and society telling disabled people that our lives are not worth living<\/a>.  Rare disease patients deserve better.<\/p>\n\n\n\n

Another example closer to home is occurring here in the US. There is a medical child abuse accusation epidemic happening in Eastern Pennsylvania<\/a> and it is likely not an isolated incident. <\/p>\n\n\n\n

Docuseries can make the consequences of rare disease families not being believed seem like one off horrors (such as the stories of Justina<\/a> and Maya<\/a>). And I wish hearing about a sudden spike in child abuse accusations being thrown at rare disease parents and families surprised me; I really do. But this is what occurs when families get stuck in the diagnostic odyssey purgatory, when doctors are not literate about genetic conditions, and when providers decide to avoid labeling patients with a \u201cprobable\u201d or \u201cpossible\u201d diagnosis.<\/a> <\/p>\n\n\n\n

Being diagnosed with a rare genetic syndrome as a teenager, some of my first experiences with the mitochondrial disease community were hearing stories of other young women my own age being locked in psychiatric in-patient programs<\/a>, forced into high intensity in-patient rehab programs, and torn away from their families by CPS<\/a>. These stories are not rare<\/a>, they are the norm in rare disease worlds, to the point that our family organizations have to make guides for tips for dealing with these accusations<\/a>.<\/p>\n\n\n\n

Genetic testing is not infallible; it is not the end all for diagnosing a medical condition. Approximately 30-40% of individuals with conditions that we know have a strong genetic component (epilepsy<\/a>, intellectual disabilities<\/a>) will be able to find a genetic cause for their symptoms. This same 30-40% applies to conditions such as cerebral palsy<\/a>, where we are just recently learning is a misdiagnosis for many families, and to complex systemic conditions such as mitochondrial disease<\/a>. We attribute this number not being 100% to: limitations in current technology, limitations in current knowledge, digenic inheritance, and multifactorial causes (genes and environment all working together). We know that just because an individual with an intellectual disability has negative genetic testing \u2013 this does not mean they suddenly don\u2019t have an intellectual disability. It simply means that at this time we did not find a genetic cause for them.<\/p>\n\n\n\n

However, for conditions that are much more difficult to diagnose \u2013 such as mitochondrial disease, this leaves families in a purgatory. With the long wait times (1-3 years) for an appointment with a geneticist and very limited specialty clinics around the US, this often means patients will travel and see different specialists at different hospitals \u2013 which can lead to turf wars. Some providers may look at a patient\u2019s symptoms and blood work and diagnose them with a clinical diagnosis, while another provider (who may not even specialize in that condition) can decide they disagree. Families are the casualties when providers disagree, and it only takes one provider to decide to get CPS involved<\/a> for \u201cover medicalizing\u201d a child. <\/p>\n\n\n\n

I\u2019ve seen families avoid major medical centers due to these accusations. I\u2019ve seen families avoid taking their younger children to the doctor when they present with symptoms after an older child had CPS involved in their care. I\u2019ve seen patients lose so much ground due to not being treated during an investigation that their condition progressed to the point of them passing away shortly after being reunited with their families. This is the reality we force families to face when we leave them without a diagnosis. This is the world we create when we allow medical providers to go through school with almost no genetic training and when we fail to regulate the power of medical providers. We should not live in a medical system in which a random ER provider who just met can override a family\u2019s long-term specialist\u2019s diagnosis, let alone a provider with a track record of false accusations.<\/a><\/p>\n\n\n\n

This is a burden that we as providers need to take on \u2013 to figure out how to better communicate and work as a team, to be loud in our support of rare disease families that are just trying their best, to fix our system so that patients stuck in the limbo of the diagnostic odyssey don\u2019t end up dismissed, disregarded, discriminated against, and dragged into court. We need to believe patients. We need to face the reality of the broken systems we work in and the systemic biases the medical field was founded on. We need to have frank conversations about how our patients\u2019 race, education level, medical literacy, appearance, emotions, gender, religion, \u201ccompliance,\u201d and sexual orientation do impact who we give credibility to, who we believe, and who we provide decent care to. I don\u2019t have answers – but I do have rage and sorrow.<\/p>\n","protected":false},"excerpt":{"rendered":"

By Devin Shuman (she\/her) Living life as a genetic counselor with mitochondrial disease may appear to mostly involve taking selfies with mitochondria jewelry and plushies from etsy. And while that might be a defining part of my rare disease lived experience, there are three current news stories that highlight the darker side of my rare …<\/p>\n

Mitochondrial Disease in the News; the darker reality of living with a rare disease<\/span> Read More \u00bb<\/a><\/p>\n","protected":false},"author":1,"featured_media":4637,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"om_disable_all_campaigns":false,"_monsterinsights_skip_tracking":false,"_monsterinsights_sitenote_active":false,"_monsterinsights_sitenote_note":"","_monsterinsights_sitenote_category":0,"site-sidebar-layout":"default","site-content-layout":"default","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"","ast-breadcrumbs-content":"","ast-featured-img":"","footer-sml-layout":"","theme-transparent-header-meta":"","adv-header-id-meta":"","stick-header-meta":"","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","footnotes":""},"categories":[63,18],"tags":[],"class_list":["post-4636","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-advocacy","category-genetic-testing"],"yoast_head":"\nMitochondrial Disease in the News; the darker reality of living with a rare disease - Gene Cuisine: satisfying your appetite for genetic news and information<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/blog.geneticsupportfoundation.org\/index.php\/2023\/09\/28\/mitochondrial-disease-in-the-news-the-darker-reality-of-living-with-a-rare-disease\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Mitochondrial Disease in the News; the darker reality of living with a rare disease - Gene Cuisine: satisfying your appetite for genetic news and information\" \/>\n<meta property=\"og:description\" content=\"By Devin Shuman (she\/her) Living life as a genetic counselor with mitochondrial disease may appear to mostly involve taking selfies with mitochondria jewelry and plushies from etsy. 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