{"id":2895,"date":"2022-02-28T13:57:34","date_gmt":"2022-02-28T13:57:34","guid":{"rendered":"https:\/\/disabilityawareness.training\/?p=2895"},"modified":"2022-02-28T13:57:34","modified_gmt":"2022-02-28T13:57:34","slug":"rare-disease","status":"publish","type":"post","link":"https:\/\/staging.krackeddigital.co.uk\/?p=2895","title":{"rendered":"Sallie’s experience living with a rare disease"},"content":{"rendered":"

\u00a0\u201cI was born with a disability called Holt-Oram Syndrome.\u00a0 It affects the bones and muscles in my entire upper body and causes Congenital Heart Disease. Don\u2019t worry if you haven\u2019t heard of it, no-one has \u2013 even doctors.\u00a0 It\u2019s really rare.\u201d <\/em><\/p>\n

This is the explanation that has unintentionally defined my life since I was diagnosed with a rare genetic disorder at the age of seven. A rehearsed statement that has to be delivered repeatedly in the hope of gaining acknowledgement, understanding and assistance.\u00a0 A disease is deemed \u2018rare\u2019 if it affects fewer than 1 in 2,000 people. Holt-Oram Syndrome affects 1 in 100,000. Worldwide, there are millions of individuals with equally rare and unusual conditions.<\/p>\n

Diagnosis<\/h4>\n

Pre-diagnosis there wasn\u2019t a name for my genetic condition but after asking my parents if we would like to know the name it was eventually christened \u2018Holt-Oram Syndrome\u2019 It\u2019s so rare and there has been so little research that this has caused issues with my care over the years. Holt-Oram isn\u2019t the only misunderstood and under-researched condition, there are roughly 6000 other rare diseases, affecting an estimated 300 million people worldwide.<\/p>\n

\"Sally<\/p>\n

Daily life<\/h4>\n

When someone asks me what\u2019s wrong, or a more specific question: \u201cwhy don\u2019t you have any thumbs?\u201d<\/em>, \u201cwhat are those scars?\u201d<\/em>, \u201cwhy do you need an adapted car?\u201d<\/em> I feel sheer panic at having to explain Holt-Oram and how it affects me.\u00a0 Most people actually lose interest precisely 0.9 seconds after asking. \u00a0I feel as if I\u2019m on a very bizarre quiz show with a buzzer about to go off as I\u2019m quickly stumbling over my words in order to provide you with the knowledge you require.<\/p>\n

Trying to explain a rare condition to someone is a stressful challenge, but it\u2019s even more difficult when requiring assistance. If I\u2019m struggling to pack shopping into a bag, I\u2019ll hear myself saying \u201cI\u2019m sorry, I\u2019ve got really useless hands\u201d<\/em>.\u00a0 If I desperately need a seat on the train I\u2019ll be trying to explain and apologise, \u201cmy spine is really wonky and painful\u201d<\/em> because it\u2019s easier than giving a full medical description. I find myself apologising a lot, even though it isn\u2019t my fault that I have a rare condition. If people haven\u2019t heard of the condition they\u2019re less likely to take me seriously. It\u2019s hard enough explaining it to medical professionals, let alone the general public.<\/p>\n

There are countless other medical conditions that are well known, such as Arthritis or Cerebral Palsy. Those with widely understood and researched conditions don\u2019t experience the same barriers as people with rare diseases.\u00a0 Even if people don\u2019t exactly know about these conditions they\u2019re aware that they legitimately exist. When I require assistance, I often find it much easier to say \u201cI have heart disease\u201d <\/em>as this is an illness that everyone is aware of and many are affected by. Something well-known is instantly acknowledged. I never feel the same need to apologise when explaining a condition like this.<\/p>\n

What you can do<\/h4>\n

It is incredibly overwhelming to be aware of every single condition that exists – there\u2019s thousands that I\u2019ve never heard of.\u00a0 But, the point is that you don\u2019t need to be a medical genius. It\u2019s not about the condition that we have, it\u2019s about the impact it has on us. Don\u2019t ask personal questions if someone asks you for assistance. Just ask them how you can help and believe them when they tell you they need it.\u00a0 The more people respond like this, the less likely I will feel the need to justify needing assistance. \u00a0It\u2019s so important to acknowledge that there are millions of people worldwide living with these quirky and unique rare conditions.<\/p>\n<\/div><\/div><\/div><\/div><\/div>\n","protected":false},"excerpt":{"rendered":"","protected":false},"author":2,"featured_media":2897,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"inline_featured_image":false,"footnotes":""},"categories":[79],"tags":[],"class_list":["post-2895","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-myth-busters"],"acf":[],"_links":{"self":[{"href":"https:\/\/staging.krackeddigital.co.uk\/index.php?rest_route=\/wp\/v2\/posts\/2895","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/staging.krackeddigital.co.uk\/index.php?rest_route=\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/staging.krackeddigital.co.uk\/index.php?rest_route=\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/staging.krackeddigital.co.uk\/index.php?rest_route=\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/staging.krackeddigital.co.uk\/index.php?rest_route=%2Fwp%2Fv2%2Fcomments&post=2895"}],"version-history":[{"count":0,"href":"https:\/\/staging.krackeddigital.co.uk\/index.php?rest_route=\/wp\/v2\/posts\/2895\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/staging.krackeddigital.co.uk\/index.php?rest_route=\/wp\/v2\/media\/2897"}],"wp:attachment":[{"href":"https:\/\/staging.krackeddigital.co.uk\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=2895"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/staging.krackeddigital.co.uk\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=2895"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/staging.krackeddigital.co.uk\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=2895"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}