Additional Needs
Age Appropriate
by Jodi Shenal
on 26th April, 2024
May 15th is International MPS/ML Awareness Day
I know right, another ‘Awareness day’ - We can feel bombarded by Awareness days, there seems to be so many of them.
Awareness Days come and go almost in a flash unless they are important to you and affect you or someone you love.
Since my son has MPS type 2, Hunter Syndrome, you can guarantee I will always write about two awareness days -
The last day in February as it is Rare Diseases Day and May 15th as it is MPS/ML Awareness day.
My experience in writing such pieces has taught me that the facts and figures are uninteresting to the general public, it is the people that strike a cord with them.
It’s the stories that stay in their minds not the facts.
Let me tell you a story -
She was young, far too young to be having such concerns. She couldn’t even find the right words when doctors referred her son to other doctors.
When asked what brought her to each specialist, her mouth would run dry and self doubt would creep in.
She was convinced that she could not disagree with doctors who had initials after their names.
She didn't know it then, but she was much more than a mammy, she was fast becoming an advocate of someone and something so much bigger than her 20 years experience of life.
After almost six years of trying to explain why she agreed with some of the diagnosis doctors and specialist threw her way, she couldn’t fully explain why it didn't ‘feel’ right to her.
She was ridiculed and made to feel stupid, naïve and seen as a time waster by the very people who should have been listening to her.
He was almost 6.
He went from a whirlwind boy to a boy who tired easy. He struggled to remember why he loved certain toys. He forgot how to play.
He became louder and more boisterous as the years went on.
He had zero regard for his safety and didn’t seem to understand a simple sentence; a sentence which he understood as a toddler he struggled with as a 5 year old.
He didn’t look like her. He toe walked and his tummy was as round as an orange.
His tongue looked far too big for his mouth and his hearing (despite grommets and later hearing aids) deteriorated regardless of the intervention he received.
His speech reduced, for every new word he learned he forgot three.
It was an accident.
She had accidentally seen the right doctor at the right time.
She refused to let the ENT (Ears, Nose & Throat) specialist operate on her son. This would have been his 5th operation for the insertion of grommets.
She was pretty sure grommets were doing absolutely nothing for her son, only causing him breathing issues every single time he was intubated for these surgeries.
She refused to sign the consent form and that is when it happened. She demanded a ‘kiddie’ doctor see her son instead of an ENT doctor.
In his annoyance the specialist called the paediatrician down to talk with her, he had warned her that the paediatrician was a very busy man and wouldn’t take too kindly to this sort of ‘messing’.
He was wrong.
The paediatrician listened to her.
He brought her and her son into his office. He nodded as she spoke, she apologised for the ‘fuss’ she had made. He reassured her,by the end of their conversation he admitted he felt she could be right - her son had far more going on than a hearing issue with a global developmental delay.
Three weeks later that same paediatrician told her that her son had a rare genetic terminal syndrome, for which there was no cure. He had Mucopolysaccharidosis type 2, also known as MPS 2 or Hunter Syndrome.
There was a leaflet.
That’s all.
That’s all he could give her- a single leaflet.
There was no group.
There was no ‘safe’ place to be gently eased into her new world.
No internet support and there sure as heck was no Awareness Day.
That was back in 2008.
That was also the day she heard for the first time how loud silence can be.
She had asked the doctor about other families who had children like her son ,he couldn’t answer, because he didn't know of any in her county let alone her country.
There was no Awareness days and if there were the Doctors had no clue about them, Rare Disease Day in Ireland had just begun that year and I have no idea when MPS international Awareness Day begun.
I write about these Awareness Days for the young mother I once was -
I want her to realise quicker than I did that specialists and doctors all sit down to poop too.
When you have any concerns about your child it is paediatrician that you call and set up an appointment with.
Forget going back and forth to your GP, if something isn’t right, listen to your inner voice and ask to see a paediatrician.
I write for the doctors and those in the health care profession, so that they learn to really listen, not just presume.
They must realise that Rare Diseases even if they are Rare, do happen.
If they listen to the parent they will be able to do their job a damn side quicker and get the answers that need to be found in order to treat the condition as best they can.
I write for the public, a rare disease can affect anyone. Anyone. We were told only boys have Hunter Syndrome, yet the first person we met was a beautiful little girl with the syndrome.
It is now 2019-
When a child is diagnosed in Ireland with MPS - there are a list of people (who live with MPS or are a parent to a child with MPS) ready to help the family and ease them into their new reality, when they are ready to.
There is support waiting and diagnosing doctors all have that information at their fingertips.
Doctors are more aware of rare conditions such as MPS due to the Awareness campaigns here in Ireland through Rare Disease Day and MPS Awareness Day.
So yes, while we may feel bombarded with Awareness Days.
They are each very important to the people who live with them-
You may not think you’ll ever have to know much about MPS or any rare disease but Hunter Syndrome knows no religion, region or sex it can affect anyone;
There was no history of Hunter Syndrome in my family before Ethan was diagnosed.
For more Information about MPS/ML Awareness day and what you can do to show your support please follow the link - Thank you
