It Took Almost 6 Years to Get My Child’s Rare Disease Diagnosis

Many people have no idea that February 29 is Rare Disease Day.

The last day of February is and has been Rare Disease Day (in Ireland) since 2008.

That is the same year my son, Ethan, was diagnosed with a rare disease called Hunter syndrome.

It is estimated that there are about 7,000 identified rare diseases — that ain’t so rare, is it?

Alone we are indeed rare, but together we are strong. Ethan is one of those thousands of people living with a rare condition.

There are eight other children I know of living in Ireland with Hunter syndrome.

Getting a rare diagnosis in our wonderful country took us five years and 10 months exactly. Five years and 10 months is a long time to spend telling doctors and specialists that something “more” was going on with our firstborn beautiful Ethan.

Doctors and specialists alike gave us so many many diagnoses over the years. They were also never shy of telling me how wrong I was…

“Over-anxious mother.”
“He will grow out of it.”
“You are overreacting, a lot of babies get sick easily.”

Then came words and letters I didn’t understand, throughout our almost six-year search:

“Global developmental delay (GDD)”
“Sensory processing disorder (SPD)”
“Hearing loss”
“Weak immune system”
“Asthma”
“Oppositional defiant disorder (ODD)”
“Attention-deficit/hyperactivity disorder (ADHD)”
“Autism”
“Dwarfism”

From 18 months old, Ethan was losing skills. Each time we got another “diagnosis,” I felt it wasn’t quite right. How can a child go from walking, talking and engaging to withdrawn, forgetful and unbalanced while walking?

Some of the conditions that were thrown around as a form of explanation did “fit” to some degree. Autism, yep that made sense, but then it didn’t. Hearing loss did explain loss of language skills and the off-balance walking, but then it didn’t.

Ethan had four sets of grommets; he still continued to lose speech and his balance didn’t improve. In fact, it got worse.

Ethan was receiving therapies from occupational therapy to speech and language therapy and everything in between… but he was still losing skills. He was picking up new skills but losing old skills.

One day in March 2008, I simply refused to let Ethan undergo yet another surgery to replace his grommets. I begged for the ear, nose and throat specialist to listen to me. He stood his ground and informed me Ethan was to have his surgery today and that I was causing a huge deal down in the operating room.

I stood my ground, like my father taught me. “When you know you are right, you stand your ground, Mac…” I heard my father voice. I refused to sign anything. I demanded to see a pediatrician.

And so an hour later, the pediatrician listened to me, he really listened. I showed him Ethan’s curled-up fingers, his round little belly, how Ethan toe-walked, how even his hair felt different.

A month later, that same pediatrician sat across from us and explained that all these other diagnoses were symptoms. They were symptoms of a much more harrowing diagnosis which would cut our son’s life short.

Our son had a rare disease called Hunter syndrome. It only affects one in 100,000 to one in 150,000 people in the whole wide world.

“There is no cure. Go home and love him.”

Ethan receives a man-made version of the enzyme his body is missing every week. He began his enzyme replacement therapy (ERT) in September 2008. This is not a cure but, and it is a huge but, it does slow down the progression of the disease. It does not cross the blood-brain barrier, meaning cognitively speaking Ethan will still regress as if he had no ERT. The ERT helps his body, not his mind.

But due to days like Rare Disease Day and International MPS Day (Hunter syndrome is also medically known as MPS type 2) on May 15, awareness campaigns have brought interest to diseases like Hunter syndrome and have helped fund active research into a possible cure.

There is an awful lot of hope and research that one day soon, when another parent faces this path, the diagnosing doctor will not only recognize the early symptoms of Hunter syndrome but will say, “Your child has Hunter syndrome. He will need this treatment to give him as fair a chance at life as any other kid.”

Wouldn’t that be wonderful?

Rare Disease Day is all about raising awareness amongst you and the general public, and hopefully raising awareness so our government and health care system do better when diagnosing and caring for those living with rare diseases.

A rare disease such as Hunter syndrome knows no race, religion, region or sex (we were told only boys have the syndrome, but the very first child we met with the syndrome was a girl). There does not have to be a history of it in the family; there is no person dead or alive in our families who ever had Hunter syndrome. A rare disease like Hunter syndrome can affect your friend, neighbor, family or child.

Help spread awareness this February 29. Tell somebody about the little wonderful boy called Ethan who you read about.

Thank you all so much!

This Rare Disease Day I will be taking any and all questions about Hunter syndrome over on It’s Me Ethan and we (our little family) will be wearing our “jeans for genes” with a splash of purple (which is the color for MPS). Maybe a few of you may join us?

A version of this originally appeared on Family Friendly HQ.

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