I'm goin' down to South Park ....meet some friends of mine

Some people just won't get it. And it's about time I get used to it.

My son has had his diagnosis since December 17th 2010. It's been almost 3 months, and I have come to the realization that in the next 3 we will be conducting what I call "Damage Control." Sebastian is going to see a total of 5 different Doctors this month, have 4 different tests at Children's Healthcare of Atlanta Hospitals, and be permanently placed on Acid Reflux Medication, and if I had my way, Anti-Seizure meds too.

As of March 10th, 2011 - He has been diagnosed with intestinal malrotation, Cortical Dysplasia, a singular right kidney with a small non-functioning mass on the left side, Moderate Hearing loss both ears low pitch, severe hearing loss both hears high pitch and apraxia.

I have been asked, "Are these procedures necessary?" and "Why would you put your child through all that?" At first I'm usually stunned at the question, in an almost "Are you SERIOUSLY asking me that" kind of way – I'll blame a momentary lapse in judgment. After days of thought, I have come to the realization, that some people just don't understand what it's like having a child with special needs. I feel like I'm on a repeat of South Park. You know the episode where the token African-American boy keeps telling his friend, "You just don't get it, Stan", shakes his head and walks away? Yep, every single day.

A chromosomal abnormality, especially one like Emanuel Syndrome, affects every cell in their tiny little bodies. It is a Syndrome because there are a number of "symptoms" that a child with ES may have at birth or develop later on in life. Here is where as a parent, I need the statistical data and the maternal instincts to work together. Congenital Heart Defects, Hearing Loss, and Digestive/Intestinal issues are the top 3 to look for after a Neurological work-up and MRI. Once your child has received a diagnosis from a geneticist that their issue is due to a chromosomal abnormality, they usually have gotten the referral to the geneticist from a neurologist, so an MRI may have already been completed (depending on the circumstances of your child of course).

So I've been around the block a few times now, with Sebastian. He's had his PDA (Patent Ductus Arteriosis - congenital heart defect) fixed via Amplatzer device. He's had blood work, an ABR, an MRI, Upper GI, and a Renal Ultrasound.

This is not something that I woke up one day and said, "Oh I want my kid to have tons of tests done that are not necessary." These are tests that although may not be "necessary" to others, are NECESSARY to Sebastian. I had no idea that my child had such severe hearing loss, and never would I have thought about it if I did not combine data and maternal instinct to have him checked out. It's one of those tests where as a parent, you REALLY hope that you are not right, but I was. The same with the Upper-GI test. I knew something was up, and I researched the data. I was right. And I still feel horrible about it.

The single kidney thing though, really threw me for a loop.

I need to get over being upset, or stunned, that someone would question my parenting. Or question my knowledge about certain anomalies and procedures that involve my son. I need to accept the fact that there will be friends, who will no longer be friends, because you spend most of your time defending your son than you do talking about whatever interests you both share. I need to begin evolving into the mother that always has a response for something someone may question about their child.

Let’s start with this:

Q. “Is that Doctor really necessary, or is it just a doctor you want?”

A: ……


Yep still no idea what to say… What would YOU say?