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Showing posts with label early onset. Show all posts
Showing posts with label early onset. Show all posts

Wednesday, 27 February 2019

Behind Blue Eyes

For Rare Disease Day I wanted to share a bit about my rare disease: Hereditary Angioedema. However, there is another disease that I suffer from that is considered a rare occurrence.
I suffer from Age-Related Macular Degeneration.
What?
Early Onset Age-Related Macular Degeneration.
My eyes, on the inside, look like they are over 70 years old. The drusen were visibly forming by the time I was 18 and the disease was diagnosed when I was 21. My optometrist noticed some drusen at age 18 but thought it was due to Prednisone, inflammation, or due to another condition. By the time I was 21 (and had been saving for Lasik) is when he realized it was more than just an unfortunate side effect. I was told I would eventually go blind, and that because they had never seen this in someone so young, they did not know how quickly or slowly it would progress.
I have been lucky up to this point in the sense that it has progressed slowly. I was warned this year, however, that that may change sooner rather than later.
It is a tough thing. I have always been so proud of my blue eyes. It has always been one of my best features, and a very clear sign of my dad. So it is an odd thing to feel both proud and resentful of something. Now, when someone compliments me on my eyes, or says 'I wish I had your eyes', there is a little pang behind my sincere 'thank you'. I love my eyes - regardless of the disease behind them.
Rare is beautiful.

Thursday, 20 December 2018

Can Advanced AMD be Reversed

Age-Related Macular Degeneration is widely considered to be an illness of the elderly. The 'Age-Related' description essentially means people over the age of 65 years with this particular disease.
Though, as we often forget, just because a disease is common or well-known among a specific group of people, that does not mean that they have an easier time with the disease itself.
Plus, as we have seen, however, people can experience early onset (like myself).
Sure it may be more tragic to hear of young children and young adults becoming blind, blindness is tragic at any age.

Another 'Ask me Anything' question was "Can advanced AMD be reversed?"

Not exactly.

There is no known cure for AMD.
There has been information about how to prevent the development of AMD, but that is shoddy as well. With that said, it doesn't hurt to try. Being a non-smoker, keeping your overall cholesterol down, eating leafy greens and adding fish oils to your diet, plus taking a specific vitamin called Vitalux are all ways that could help prevent or slow down the progression of the disease.

I have been told by my ophthalmologist that there is a new medication/treatment coming down the pipeline that is currently going through clinical trials. It has not only been shown to slow down the progression of AMD, but for people with Dry AMD, it has even shown signs of shrinking the drusen that obstruct vision.
Last I heard it was approximately five years out from being approved for the general public.
This is great news for people with Dry Macular Degeneration.

So in theory, Dry AMD could potentially be partially reversed. The likelihood of entirely reversing advanced disease is, seemingly, out of reach at this point.

For those who don't understand, click the following link for a brief overview of Wet AMD. Click the next link for an overview of Dry AMD.
And here is a basic link discussing treatment options and another link here discussing prevention ideas.

Macular Degeneration, to sum it up, is the loss of one's central vision. Most people with AMD will eventually lose all of their central vision but retain their peripheral vision. Most sufferers are diagnosed over the age of 65 years, and many continue with a relatively normal life - learning to rely on peripheral vision. There is, however, a severe loss of independence that goes hand-in-hand with any vision loss.
Learning that there are new treatments in clinical trials is extremely good news, and it also means that there are people working tirelessly to better understand this disease and to find better treatment options.

I, personally, was diagnosed when I was 21 years old. My ophthalmologist explained that my eyes looked as though they were 70 years old. I have been lucky though. My disease has progressed very slowly, and I only experience a few little spots in my vision that are negligible. The only time I even notice is when I am looking at a bright solid surface - like snow or a bright blue sky.
We are not sure if it was exacerbated by medications I was taking at that time or if it s related to my Hereditary Angioedema (a defect in my Complement system).
Either way - after getting second, third, fourth, and fifth opinions (since it was deemed impossible for me to have it), I have been solidly diagnosed with Early Onset Age-Related Macular Degeneration.

I wish I had better answers and better news for the question asked - but three years ago the answer would have been an undisputed no. So having a potential partial yes hope is a good progression.