"A disease may be rare but hope should not be"
There's still love in the air for Rare Disease Day that annually celebrated on the last day of February, which was yesterday. I'd like you to meet my rare warrior. This special casual post is dedicated to him and to those who suffer the rare disease.
His name is Dario Omar Casonato. We named him after a famous Persian King: Darius. Dario is the Italian version of Darius (Latin) means a protector, a wealthy possessor of good and an upholder of good. His second name Omar is an Arabic name means the flourishing, long-lived, eloquent and gifted speaker. Omar is also the name of Islamic khalifah and the prophet's best friend.
By giving this name we really hope Dario could be a wealthy protector of good who lives long and inspires people every single day of his life.
Little did we know that he had been missing part of his chromosome 22 while still in my womb, but that doesn't make him any less.
He was perfect when I first saw him out of my uterus. He's still and will always be.
His missing chromosome 22 leads to the diagnosis of 22q11.2 deletion syndrome (partial) and caused multiple birth defects, some are life-threatening. Congenital Heart Disease, Renal Hypoplasia, Scoliosis, Hypotonia, Enamel hypoplasia/hypomineralization are amongst his countless defects. He has a greater risk of having heart and lung failure, kidney failure, curved bones, and mental disorder.
Yup, that sucks...
His life and ours have never been easy, yet we are forever grateful that we've made this far. We are determined to keep fighting to fix the defects while living happily as we can be.
It's overwhelming. Every single day is another challenge, but you know what, we should carry on. Life is precious, there's no time to sit in the corner and cry. You have to do whatever it takes to fight it.
If you are rare warriors or parents of rare warriors, I just want you to know you are loved, you are awesome and you're the pure beauty the world needs to see.
Keep in mind that your defects don't define anything about you.
Be persistent and tough, be stubborn and don't let the shadow of unfavorable prognosis get into you.
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A rare disease is a disease that occurs infrequently or rarely in the general population. In order to be considered as rare, each specific disease cannot affect more than a limited number of people out of the whole population, defined in Europe as less than 1 in 2,000 citizens (EC Regulation on Orphan Medicinal Products).
Most people suffering from rare diseases do not have any treatment options available for their condition. Moreover, many countries still do not have plans, policies or legislation to help lead research on rare diseases and improve the management of these many conditions.
Awareness and understanding of rare diseases are often low, and many patients struggle to find adequate information about their condition. As a result, upon diagnosis, patients may feel isolated, overwhelmed and unsupported. The emotional, psychological and financial impact of being diagnosed and living with a rare disease is also unbearable.
In addition, research and development of treatments for rare diseases have been neglected in favour of more common diseases. However, in the last twenty years, concerted public policy efforts have led to a marked improvement in our understanding of many rare diseases and the availability of effective treatment options.
Rare diseases pose particular challenges for research and clinical development. This is due to the small numbers of patients, limited epidemiological data on the natural history of many rare diseases, and all stages of research and development being more challenging and lengthy than for more common diseases.
Let's help to spread awareness of rare disease so that more and more research and clinical development would be done to help rare disease patients to see a brighter future.
Happy rare disease day, rare warriors!
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