A Mom in the Waiting Room Told Me One Thing Genetic Testing Is Not

It was mere weeks after Ethan’s diagnosis of Hunter syndrome when I was asked to come in to speak with a genetic counselor and to have my blood taken. My blood test would determine whether or not I had given Ethan a rare genetic syndrome. I hadn’t thought much about how that would make me feel.

I sat watching parents and children being summoned one by one. A woman sat beside me. I smiled as I accidently caught her eye.

“Blood?” she casually asked. I nodded.

“Ah, been there, hate needles. I haven’t seen you here before. Am I right to assume it’s the genetics department you’ve got to go into?” I nodded as she continued, “I’ve got to go in there. I’m getting genetic counseling, ha! I never knew such a thing existed until…” her voice trailed off.

“Oh.” I looked at her. Maybe she could explain what exactly “genetic counseling” was because no one had explained it to me.

She took my “Oh” and ran with it. “My son has a genetic syndrome and…”

I turned my whole body towards this woman, hoping her next words would be “It is called Hunter syndrome.”

“What is it?” I blurted out.

She looked right at me. “Hurler syndrome. We found out when our son was born. He’s now 3. He had to have a bone marrow transplant but he is doing well now, thank God,” she smiled, not a happy smile, not a wide smile, just a smile. The smile I was getting used to showing in public.

“I’m sorry, I’ve never heard of that syndrome.” I mirrored her smile.

“It is also known as mucopolysaccharidoses (MPS) type 1,” she added.

“There’s a type 1!!!” I exclaimed.

Her eyes narrowed. “Has your child got MPS?”

I nodded. “Hunter syndrome. I had no idea there were more. Wow.”

She tilted her head. “There are seven roughly. I am so sorry. Hunter is type 2, isn’t it?” She bit her lip.

“Yes, that’s the one…are the syndromes all the same or are they very different?” I asked.
She paused. Clearing her throat she quietly, she said, “None have cures …but yes, from my knowledge the [more serious] types are those with brain involvement.” She looked around the room. Her eyes fell back to me and she continued, “I know what your next question is and I am not a doctor. I don’t know.” She patted my lap.

“My son could have brain involvement. He has had problems with his development. They told us it could be a phase, is it? Or is it more likely to be the syndrome?” The words exploded from my dry mouth.

She shifted her weight in the seat, picked up her bag, then put it back on the ground before she answered me. “I honestly don’t know much about Hunter, but I do know there is a forum on the Internet where you can speak to other parents. I’ll add you to it, if you give me your email address.”

I gave her my email address.

The receptionist called my name. I looked at the woman next to me and thanked her.

“Promise me no matter what the outcome is, you’ll connect with parents who have children with the same syndrome. They are the true experts.” She rubbed my shoulder.

“I am beginning to see that, thank you,” I smiled a genuine smile. “I was told there are only six other boys in Ireland, is that true?” I added while I gathered my coat and bag.

“No idea. But it is rare. I believe there are only 2,000 worldwide, but you can connect to a good few on the forum, I promise.” She stood up.

“Is your son’s the same then?” I blurted out, as I could see the receptionist was getting impatient.

“No, it isn’t as rare, and normally once they have the bone marrow transplant they have a good chance at an average life, but they need a bone marrow transplant to survive before 18 months… It is different for everyone.” She picked up her bag.

“Wow, thank God they knew then when he was born.” I was shocked.

“A history in the family…” She nodded towards the receptionist. “You’d better go, she is getting annoyed and I really need the loo,” she laughed.

“Sorry, yeah OK. Thank you though, so very much.” I threw my coat over my arm, and we both walked towards the receptionist.

“One more thing, the blood thing, the genetics testing and all that,” she said, waving her hand as though a fly was annoying her. She stood closer to me and whispered, “It is not a blame game …genetic testing is not a blame game.” She turned to the left pushed the toilet door open. “You will be OK.”

Taking a deep breath, I followed the somewhat annoyed receptionist in through the double doors and down to the genetic counselor’s office where my husband was waiting to greet me.

Weeks later I recalled this woman and her wise words as the genetic counselor told me that I was indeed the carrier of the “faulty” gene that gave my son a terminal, life-limiting condition.

I became a regular user on the forum.

I asked the real “experts” about Hunter syndrome and I learned and learned.

I was ready for our first ever trip to Temple Street Children’s University Hospital armed with knowledge and determination.

I pushed the guilt deep down inside. Ethan didn’t need a guilt-ridden mom, he needed a fighter.

Guilt — it never leaves you.

I believe parents are experts when it comes to their child’s condition; I don’t think you’ll ever find a doctor as honest, supportive or knowledgeable.

Follow this journey on It’s Me Ethan!

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