May for us has always been a month to promote awareness around Mucopolysaccharidosis (also known as MPS. I imagine because it’s pretty tricky to pronounce Mucopolysaccharidosis!)
MPS Awareness Day is May the 15th.
For years, I have tried to make it a ‘known’ awareness day, but there are so many more conditions that are more ‘common’ that raising awareness for MPS is an uphill battle.
MPS, precisely MPS type 2, changed my life and the life I thought I would have.
MPS type 2, known as Hunter syndrome, came into my life without warning.
Regardless of who you are and where you live, you always think that conditions so rare like Hunter Syndrome would affect ‘other’ people, not you. That is one hundred per cent bull, but it’s also one hundred per cent understandable.
We are all human, after all.
May is also the month Ethan entered this world.
Ethan was born on May the 18th, 2002. He was a big baby weighing in at 9lb even. He was gorgeous and what others would call ‘a perfectly healthy little boy.’
Ethan was a textbook child; he hit every milestone on time or a little earlier than expected.
Hunter Syndrome gave him eighteen months before taking abilities from him.
Hunter Syndrome gave him eighteen years before taking him completely.
Hunter Syndrome is a rare genetic syndrome that takes every ability and affects every part of the body from the brain right down to the toes, and currently, there is nothing to stop it in its tracks.
Hunter Syndrome, believe it or not, doesn’t give two craps that there is no ‘history of it in the family. It often creates history by taking away a teeny tiny enzyme from specifically your boys but can and will take the enzyme from your girls, too, on occasion. And, thus begins a ‘history’ of Hunter Syndrome in your family.
I don’t share this with you to scare you.
I share this and many other facts about Hunter Syndrome to make you aware. Having a rare condition isn’t rare. Let that sink in.
Why bother with awareness days? Awareness brings Interest; Interest brings research, and research brings cures or drugs to keep our children living.
Any parent with a child with a rare condition will tell how hard it was to get to the diagnosis stage with their child. Why is it so hard? Syndromes like Hunter Syndrome are so rare that the medical field doesn’t look for them in a child until a parent has had enough and demands they run some tests. The parent is more than often the one that discovers their child’s rare condition through sheer anger at the ‘system’. They do the research. They demand to be heard and keep at the doctor until they listen.
It shouldn’t be that hard to be heard.
It took us five years and ten months to learn that Ethan had Hunter Syndrome. We were told it only affects boys, yet the first person we met in our home county was a little girl!
In Ireland, roughly about ten other families are living with Hunter Syndrome and at least one hundred (if not more) living with a form of Mucopolysaccharidosis.
There are thousands of families living on our island affected by a rare disease.
As I’ve said, it is not rare to have a rare condition.
I hope that one day soon, a parent won’t be told ‘there’s nothing more we can do, go home and love him’ when diagnosing Hunter Syndrome in a child. I hope they will say, ” Yes we have Enzyme Replacement therapy and we have crossed the blood brain barrier, we can stop Hunter Syndrome in it’s tracks.”
Researchers are close.
More funds need to be raised to cross the blood-brain barrier one day, not just for conditions like MPS, but for others like Alzimhers.
More awareness can only help.
Please help spread awareness this May the 15th by telling someone you know about Ethan and his adventures through my blog on Facebook, Instagram or my website.
We will be marking Ethans 19th birthday in an extraordinary way this year; it is hard to believe he isn’t with us, but he is very much always with us, too.
For more information on MPS please click here
To purchase my book “Ethan & Me” click here