Rare disease day

 So February 28th is National Rare Disease day (I love that I get to share it with my Birthday!) I made an effort this year to spread the word about Rare Disease day just to bring more awareness. I made this picture of McKay and posted it on my Facebook and on the M-CM syndrome page. I think he looks so cute!

I copied the below information from a friend who posted this on Facebook on Rare disease day. It could not be more true. I am thankful that McKay's syndrome has received some funding so they can find out more about the syndrome. But they still have so much research to do to get us more answers. So much of it is unknown and every kid is different. We found out some new information about McKay recently that makes his case of M-CM syndrome even more rare than the others. The doctors in Seattle are still very much interested in



What is a rare disease?

A disease or disorder is defined as rare in the USA when it affects fewer than 200,000 Americans at any given time.

80% of rare diseases have identified genetic origins whilst others are the result of infections (bacterial or viral), allergies and environmental causes, or are degenerative and proliferative.
50% of rare diseases touch children.

The fact that there are often no existing effective cures adds to the high level of pain and suffering endured by patients and their families.

The lack of scientific knowledge and quality information on the disease often results in a delay in diagnosis. Also the need for appropriate quality health care engenders inequlities and difficulties in access to treatment and care. This often results in heavy social and financial burdens on patients.

As mentioned, due to the broad diversity of disorders and relatively common symptoms which can hide underlying rare diseases, initial misdiagnosis is common. In addition symptoms differ not only from disease to disease, but also from patient to patient suffering from the same disease.

Although rare disease patients and their families face many challenges, enormous progress is being made every day.

The ongoing implementation of a better comprehensive approach to rare diseases has led to the development of appropriate public health policies. Important gains continue to be made with the increase of international cooperation in the field of clinical and scientific research as well as the sharing of scientific knowledge about all rare diseases, not only the most “recurrent” ones. Both of these advances have led to the development of new diagnostic and therapeutic procedures.

However, the road ahead is long with much progress to be made.