"I felt like someone had told me my baby had died." Why it matters how doctors deliver a diagnosis.

It has been almost a year now since we received my son Ethan’s diagnosis, and as I sit here typing, and reliving the day, the tears are streaming down my face because it is still such a raw and difficult memory for me.

We planned to have the appointment in the morning so he could attend before he had to leave to go back to work. The appointment started like any other doctor’s appointment, with measurements and a physical exam.

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I remember the doctor and the medical student discussing Ethan out loud during the exam… like he was an object or a hypothetical study, rather than a person.

“Almost no muscle tone. Wide-set eyes. Internally rotated feet. Possible congenital vertical talus. Severe plagiocephaly.”

Each statement was like a punch to my stomach slowly taking away more and more of my breath. Every word that was spoken served to intensify my panic.

What was happening to my baby?

But the way they were treating him – mechanically manipulating him and verbally picking him apart like vultures, it enraged me.

After the physical exam, when we sat down with the doctors they said, “I’m very sorry to tell you this, but your son has a rare genetic condition called chromosome 18q deletion syndrome.”

 

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Giving birth to Ethan in Canada without Kyle wasn’t easy but I’m so lucky to have had my mom there

A post shared by Jennifer Elizabeth (@meant_to_be_your_mama) on Nov 23, 2018 at 2:56pm PST

“After examining him today, we can see that he has hypotonia which means he has very low muscle tone. This, in combination with his diagnosis, means he likely won’t sit up, crawl or walk, and he may never talk.

“There is a high risk of him losing his vision and his hearing as he gets older and he will be very short in stature because he will probably have low growth hormone.

“He will need to be examined by a cardiologist, an endocrinologist, an optometrist, an audiologist, a neurologist, a cranial head specialist, a gastroenterologist, a urologist, and an orthopedic surgeon.

“He will also need intensive therapy including physical therapy, occupational therapy, speech therapy and possibly feeding therapy. He will never have children, and certainly he will never live an independent life.”

I felt like I had been hit with a ton of bricks.

Just hours before this appointment, my partner Kyle and I had been discussing how lucky we were that Ethan had examined so well.

I had worried endlessly for nine months of pregnancy, only to feel an overwhelming sense of relief when we were told he seemed to “check out fine,” and now I was being told he had an extremely complicated genetic condition.

I crumbled under the weight of the doctor’s words. I just crumbled.

In that moment, I felt my heart shatter into a million pieces and I cried. It was a cry completely full of anguish and heartache.

I felt like someone had told me my baby had died. And in a way, I did need to grieve the baby that I thought I had, in order to make room for the baby that I did have. Kyle was shell-shocked and silent, but I sobbed. I sobbed and sobbed.

I asked questions through my sobs, but the rest of that appointment was a blur… one that I really can’t remember the details of.

I wish I could go back to that moment and tell that sobbing, heartbroken woman what I know now.

 

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“I am a fighter “I will always fight for you” ❤️❤️

A post shared by Jennifer Elizabeth (@meant_to_be_your_mama) on Jan 11, 2019 at 5:10pm PST

I wish I could tell her that Ethan would be one of the greatest gifts of her life, and that he would teach her more about love and patience, strength and resilience than she would ever know. I wish I could tell her that he would thrive and be beautiful and loving, and that everyone whose life he touched would feel blessed to have met him.

I wish I could tell her that he would move mountains with his strength, and surpass all sorts of barriers to reach milestones that this doctor stated he would never reach.

Ethan is without a shadow of a doubt one of the best things to happen to my life. He greets every day and every test with a smile.

That geneticist was looking at a diagnosis on paper, but they didn’t know my son.

He was strong, persistent and beautiful.

It was shortly after that day that I resolved myself to fight every single day for him. To give up whatever we had to, in order to provide the best possible life for Ethan.

To afford him every opportunity, and to help him reach his maximum potential to become the best version of himself. In a way, I need to thank this doctor for the horrible way he delivered my son’s diagnosis, because it lit a fire in me – one that will not burn out as long as I am living.

 

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Today is rare disease day and our entire family is wearing jeans and our @littlest_warrior gear to honour our tiniest family member! Ethan was diagnosed with chromosome 18q deletion syndrome when he was 2 months old. We were told so many absolutes in that appointment that we left devastated with no clue what the future held for our little boy. Being told he would never walk, never stand, never crawl or sit up were just a few of the minor things that came out of that appointment. Since that day we have committed ourselves to Ethan, and to giving him the best possible life we can offer. Not everything is in our control, but what we can control we will put everything into for him. He is such an inspiration, his persistence and strength astounds me! He is sitting, standing and very close to crawling and we couldn’t be more proud of his determination to beat the odds! Join our family in celebrating Ethan and all the other rare warriors fighting big battles today by wearing your jeans and hash tagging #jeansforethan @thisiswhyweadvocate

A post shared by Jennifer Elizabeth (@meant_to_be_your_mama) on Feb 28, 2019 at 6:32am PST

He lit a fire for me to advocate unconditionally for my son.

To all those parents who have just received an unexpected medical diagnosis, it is OK to be sad. It is OK to grieve the life you thought you would have, before you accept the new one that you have been given.

But once you accept it… you’re quickly going to realise how amazing and incredible it is. You will be adopted into an unbelievable group of parents with wonderful children, who support each other unconditionally, who lean on each other in times of need, and who cheer on your child through all of their hurdles.

Every milestone that your baby reaches will be an incredible victory, and it will give you an entirely new perspective on life and what is important, and should be celebrated.

Sure there will be hard times, times where you have to watch your child go through something no little baby should have to… but these moments will change you. They will completely break you down and then build you back up into someone you never could have dreamed you would become.

I don’t know what the future holds, and that’s scary. But I do know I’m going to appreciate every smile, every giggle, every kiss and every cuddle that this little boy allows me to be a part of, because being his mother is a job that I feel humbled and privileged to call mine.

This post originally appeared on Meant to be your Mama and has been republished here with full permission. For more from Jennifer, you can follow her on Facebook and Instagram.