Today is Rare Chromosome & Gene Disorder Awareness Day: #UniqueNotAlone

Jun 16

Never thought that I’d relate to that title.

The OTX2 Gene on the 14th Chromosome. So rare it has no name.

You’ve read and heard me mention the traumatic experience that has been the last year and a half.

Before I continue, there has been SO much beauty, love, and light in the last year and a half as well - if not moreso than the difficult.

My intention in this piece is in hopes that a new mama sitting in those uncomfortable recliner chairs in a NICU somewhere (or one that was released and is dealing with trauma) can feel less alone (maybe it’s not due to a genetic difference and that’s ok!).

Google became my best friend and worst enemy from October 26th - January 15th, 2020.

My best friend on the days I could walk into meetings with doctors knowing the effects of narcan before they told us and at the moments where I could keep up so well with medical lingo that you’d think I was a medical professional (I actually was asked while in the NICU on more than one occasion if I was in medicine because “you seem so knowledgeable”. We’ll speak about the privileges I held that other moms in the NICU didn’t later.)

Google was my enemy many days, too.

On the days when the search for “what are substitutes to a trach”, “are trachs necessary”, and “will a baby with a g-tube ever eat by mouth” came up empty.

On those days, we were absolutely alone. Absolutely and utterly alone.

The fact that the WHOLE WORLD couldn’t relate - not even an opinion blog! - was always a blow.

“This means everything isn’t ok, huh?”

“This means that things aren’t gonna get better, huh?”

“There really are NO solutions, huh?”

Now, one and a half year later, those searches are still empty but at least now I know why.

Every baby, every complication is different (btw I hated when the doctors used this as an answer to our questions!).

Through rounds and rounds of genetic testing we found out that less than 20 humans in history around the world have reported the genetic difference that our Carlos Amado has.

TWENTY.

And of those twenty-ish, none had symptoms like Amado’s.

Most had eye differences - a missing eyeball, two missing eyeballs.

None, that we know of, had micrognathia, retrognathia, required a trach.

I’d like you to take a walk with me…

You have a child. That you love so, so much.

They have health complications unexpectedly after birth. They turn out to be genetic (not hereditary - I learned that there’s a difference!).

You’re referred to the genetics clinic.

You have questions ready, all numbered and ready to go.

Your amazing, straightforward doctor (genetic specialist) says, “unfortunately, I’ll have to tell you what I tell many of my patient’s parents and that is that the hardest part of my job is having to say ‘I don’t know’ and with Carlos… I don’t know”…

…

“We’re alone.”

Doctors, medical doctors who specialize in this… don’t know. To this day. Amado was referred to potentially be a part of a case study, where they will study him to hopefully help the medical field understand more about this difference.

Your child probably doesn’t have an OTX2 gene difference on the 14th chromosome (yes, so rare that it doesn’t have a name - you just categorize it by it’s gene number and the chromosome it’s on. Remember - one of less than 20 ever).

Your child probably doesn’t have a trach and a g-tube and ptosis of the right eye and an ear lobe malformation, moderate hearing loss, a hearing aid, vision loss, astigmatism, eye glasses and use eye patches, no tongue, a small jaw, a retracted jaw, a small throat, a small airway, use ASL to communicate, and have 8 specialist doctors and 3 separate therapists that they see.

And, yet, because I am here, because Carlos is here, and because Carlos Amado is here, you are not alone.

To all my mamas and daddies and parents with honeys with rare chromosome and gene disorders, sending love, energy, and hugs.

I’d also appreciate the reciprocity - cus the Lord knows I need it some days!

#RareChromoDay

— Sana

While in the NICU, trips to the mountains felt impossible. Mamas, daddies, parents, a beautiful life will be possible for you, regardless of what that looks like.

Susana Elizarraraz