Hey all! Just a quick informative post today. May 7th is Cystinosis Awareness Day which is a condition that I have and I want to share with you all a bit about the illness.
Cystinosis is a rare, genetic disease, which is diagnosed early in childhood, usually before the age of two. It is autosomal recessive, which means that it is inherited when a child receives two copies of an abnormal gene, one copy from each parent. By about age two, cystine crystals may be present in the cornea. The build-up of these crystals in the eye causes an increased sensitivity to light (photophobia). The kidneys are one of the major organs that are affected later in childhood, and without treatment children with cystinosis are likely to experience complete kidney failure by about age ten.
The root cause of the illness is an increase in many parts of the body of a natural chemical, an amino acid called cystine. This build up causes cystine crystals to form in many organs of the body. These form firstly in the kidneys and the eyes, and later in life the muscles, pancreas, thyroid gland and white blood cells. There can be other organs and systems involved and just like with any other condition, the symptoms and their severity will vary from person to person.
There are three different types of Cystinosis:
1. Nephropathic infantile cystinosis - which starts by affecting the kidneys in babies and children under the age of two (90-95% of all cases)
2. Nephropathic Juvenile Cystinosis - which starts by affecting kidneys in young children (3-5% of all cases)
3. Ocular Cystinosis - which affects the eyes and does not cause problems until later in life (the rarest form with only 1-2% of all cases)
I myself have Nephropathic Cystinosis and was diagnosed at 8 months, following a diagnosis my sister got when she was three. I am on a variety of medications to treat it and under went a transplant in 2018, something which all those who suffer with Cystinosis will have to experience; most have more than one in their lifetime.
I am planning to do a more in depth post in the future about my experience throughout my 22 years, which I hope will provide more insight and awareness on the condition.
I hope you are all well and that this provided you with some important awareness of a condition you may not have heard of! Stay safe, Lucy xoxoxo
If you would like to know more, please check out this link where I got the information above from: Cystinosis. Also check out this video that my sister and I done on her YouTube channel: Living with Cystinosis.
And just remember:
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