Rare…or could it be rarely diagnosed ? By Melanie Gomez

When my second baby was just a few weeks old, he seemed different than his brother before him.

I made mention to the pediatrician, and she sent me back home and scolded me for comparison “no two babies are alike”.

Those weekly and then monthly check ups would all play out the same way, she would look at him and assure me that he was fine. “Don’t be neurotic” she once chided.

I KNEW something was wrong, it was deep in my gut and wouldn’t allow peace or sleep. When hubby awakened one night to find me sobbing into my pillow, he finally got the results I desired: his stern call to the doctor (probably about my mental health) resulted in a visit to a neurologist, so we could rule-out any problems and ease my worried post-partum mind.

The neurologist listened to my list of worries, and noted all the tiny, insignificant issues baby had when he was born. Lots of little no-big-deals had been working themselves out: hip clicks, umbilical hernia, intestinal malrotation (we’d already had surgery for that), reflux, heart hole (which had resolved itself).

The neurologist declared “he looks fine, I’m sure he’s fine. But – using the analogy of a PC – sometimes where there are multiple glitches, it can be an indicator that the underlying programming has a problem.” So he sent us to a geneticist for another rule-out appointment.

The geneticist also assured us the baby looked fine – genetic disorders usually include facial anomalies. She ordered a full scope of testing, again for the purpose of ruling out.

The results were a shock to all.

My baby had a rare chromosomal abnormality.

What if we didn’t push the pediatrician?

What if the neurologist hadn’t forwarded us to the geneticist?

What if we didn’t have great insurance to pay for all these seemingly superfluous “rule-out” tests?

I have since come across LOTS of little ones diagnosed with pdd, spd, learning disabilities, or autism who remind me of my guy.

I usually don’t ask if the child has had genetic testing, but on the rare occasion that I ask, the answer is always no.

I am reminded of what the geneticist said after delivering our diagnosis.

I imagine there are many more cases of this disorder, they’re just not diagnosed because of how the baby appears”.

I believe the increase in children with pdd, spd, or autism spectrum disorder will make it even less likely that babies will be referred for genetic testing because it is easier and far less costly to provide an immediate, ‘more than likely’ diagnosis.

Not that those diagnoses aren’t correct, but why wouldn’t the doctor confirm the absence of presence of genetic mutation? If a genetic disorder is found, and the probable effects are know, the child has a much greater chance of receiving the most appropriate intervention and assistance.

Rare disease awareness is so important, especially among the general medical community.

I’m so thankful we lived in a major city, with highly trained specialists. I am thankful for a neurologist who not only had a mind to suspect the unusual, but also trusted a momma’s instincts. He was aware of the possibility, however unlikely, of a rare disorder and wasn’t afraid to act on those unlikely suspicions.

It turns out that Rare Diseases and disorders may be more common than we know – in our case Rarely Diagnosed may be more accurate.

Kindly submitted by Melanie who writes about her family’s life over on RedefineSpecial.com

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