Ellie-Mae Morgan, my boyfriend’s sister, just turned 16, was diagnosed with juvenile Huntingtons disease, a rare case of this awful condition. Most of you won’t know anything about this disease, which is why I am making this post. It is so, so frustrating that the awareness of this disease is so poor, but it is absolutely devastating to the families affected by it. I don’t have many followers but I would be so grateful if you could reblog this to raise awareness, even if you don’t have many followers either.
Huntington’s disease (HD) is a neurodegenerative genetic disorder that affects muscle coordination and leads to cognitive decline and psychiatric problems. It typically becomes noticeable in mid-adult life. HD is the most common genetic cause of abnormal involuntary writhing movements called chorea, which is why the disease used to be called Huntington’s chorea.
The disease is caused by an autosomal dominant mutation in either of an individual’s two copies of a gene called Huntingtin, which means any child of an affected person typically has a 50% chance of inheriting the disease.
(My boyfriend and his other amazing sister are at risk)
Physical symptoms of Huntington’s disease can begin at any age from infancy to old age, but usually begin between 35 and 44 years of age. Through genetic anticipation, the disease may develop earlier in life in each successive generation. About 6% of cases start before the age of 21 years with an akinetic-rigid syndrome; they progress faster and vary slightly. The variant is classified as juvenile, akinetic-rigid or Westphal variant HD.
It gradually damages cells in the brain, through mechanisms that are not fully understood.
As the disease advances, uncoordinated, jerky body movements become more apparent, along with a decline in mental abilities and behavioural and psychiatric problems. Physical abilities are gradually impeded until coordinated movement becomes very difficult.
There is no cure for HD, and full-time care is required in the later stages of the disease.
Ellie is unfortunately in the later stages of the disease, with her life expectancy shortening with each trip to the hospital and each check up. I have been took in as part of this family for almost seven months now and seeing this innocent girl who is one of the sweetest, bravest, most amazing people I know slowly deteriorating and slipping away is truly heartbreaking.
The whole family are genuinely amazing, as well as being so inspirational in caring for Ellie full time. Nobody deserves to be cursed with this disease, but especially not such a lovely family like hers. It is so unfair to Ellie, who is also incredibly strong and tough and such a funny character, too.
I just want people to know of huntingtons as once people are more aware, more money will be able to go into research for finding a cure or treatment of some sort.
Ellie is bed bound as she is very uncomfortable with stiff muscles elsewhere and is not exactly living the life of a normal 16 year old girl. It really isn’t fair. I want to thank whoever has taken the time to read this post and whoever chooses to reblog it. Maybe there is a cure for Huntingtons out there, and the more people that cooperate with the search, the more chance there is of finding it. I love this girl with all of my heart and even if only 3 people reblog this post, it’s 3 more people with the knowledge of this disease, 3 more people hopefully wishing and praying that a cure will be found. We need all the hope we can get.