Dear Genetic Counselor, "You Told Us Our Son Was an Error."

October 4, 2016

 


Dear Genetic Counselor,

 
I never thought I would have a meeting with you regarding my child. But as fate would have it, my youngest child, Jonas, had an appointment with you at just 1 month old. Jonas was born with Down syndrome and his pediatrician recommended we see you to get more information about his diagnosis and to have any questions we had answered.

 

Jonas was diagnosed at 2 days old, and I spent the majority of the first few weeks of his life crying, worried, scared. My husband and I met with you as all 5 pounds of Jonas slept on my chest. You asked how we were doing, we responded "ok".

 

You began your appointment by explaining how Down syndrome happens. Instead of describing in a sensitive and supportive manner, you told me "he was an error at conception". Thankfully, I am a Registered Nurse by trade, so in that mindset, I knew what you were "trying" to say, but as a mother of a brand new baby with a life changing diagnosis, your choice of words stung pretty badly.

 

I said nothing as you continued, fighting to hold back tears that just seemed to be a constant flow those first weeks. You told us to expect physical and intellectual disabilities, that he "would have the intellectual ability of a 8-9 year old as an adult". Instead of congratulating us on our new addition and all of the things our son will be able to do, you set limits on my brand new baby boy, before you even gave him a chance.

 

Did you know there are national guidelines for delivering a Down syndrome diagnosis? Many families, and even some medical professionals, are not aware of this standard of care set in place. The goal of the guidelines is to deliver a Down syndrome diagnosis with up to date information and in an unbiased way.

 

We left the appointment feeling even more broken, the glimmer of hope we had for his future shattered. With the support of other Rockin' Moms of the Down Syndrome Diagnosis Network, my spirit was mended with their encouraging words and validation that the sky is the limit for kids with Down syndrome.  

 

Today, Jonas is thriving, surprising every medical professional he comes in contact with with his clean bill of health and meeting milestones consistently. He is fiercely loved by his older siblings and a light to anyone he meets. We are confident that his future is bright and that he will continue to overcome any limitations thrown his way. 

 

Sincerely,

Julian Aguilar 

Jonas' Rockin' (and proud) Mom

 


You, too, can let your doctor know how they did delivering the diagnosis by participating in DSDN’s Physician Feedback program. 

 

Connect with the Down Syndrome Diagnosis Network if you have a young child or are expecting a new little one with Down syndrome for information, connections, and support. 

 

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