The Diagnosis of Potocki-Lupski Syndrome

Jamison was always a little ‘different’. He was slow hitting his developmental milestones. After many tests with doctors and developmental testing done by the Infant Toddler program he was diagnosed with PDD-NOS when he was 1 1/2 years old.

Although he showed many signs of Autism I never felt like that was the only problem. I had always said to his Pediatrician that the diagnosis of Autism just seems to continue to be thrown around when he’s showing some signs of it but certainly not all. I know that in most cases it fits perfectly, but in Jamison’s case… I just never felt like it did. He did so many things that were not typical of it.

I felt lost in the spectrum. I felt like the answers they were giving me were just not right… So I made an appointment with a Neurologist at Sacred Heart Medical Center in Spokane, Washington. It’s amazing how long the wait list is to see these specialists… it took me nearly 7 months just to get an initial consultation; and that’s where my story begins:

It was August 18th, 2008. I received a phone call from the Neurologist’s office, they had some news on Jamison’s blood work. “Jamison has a duplication on his 17th chromosome, and the doctor will tell you more about it at your appointment next Wednesday.” I paused, I couldn’t bring the words out to say ‘what the heck does that mean?’ I politely thanked her for the phone call and swallowed the lump in my throat. I was on my way to therapy, I couldn’t stop and look up what she had just told me. 2 hours later I went online and looked up this duplication… Potocki-Lupski Syndrome.

As I was reading the article, I just couldn’t help thinking that ‘I could have written this!’ It’s almost and exact account of Jamison’s entire existence… how could this be? How could my son have this rare condition that has less than 50 people being described in medical literature?! Wait… that means, I’ll barely be able to find anything out about it… I won’t be able to stay up countless hours online reading about it, finding out about new therapies and personal accounts of success like when they diagnosed him previously with Autism that has a wealth of information…

The articles I have found online told me about some of the health problems due to this chromosomal duplication:

Low muscle tone –check

Poor feeding –check (make that double check)

Heart defects – not that we know of … yet

Developmental delay – check

Speech and learning problems – check

Autism – check

I remember being so calm once I finally saw the doctor. I remember taking notes and smiling, keeping up conversation… Learning that along with this rare condition, Jamison also has abnormalities that were found on his MRI. I even remember the drive home. I drove, with my husband, mother and Jamison in the car. There was barely a word spoken… I even noticed that I had been driving for a half hour in silence before I turned on the radio and pretended that this was not the absolute worst feeling I had ever experienced.

I got home, put Jamison to bed and fell apart… I remember just crying so hard and laughing at the same time just in shock. The laughter stems from the overwhelming feeling that of all people I know, I always seem to be the one with something different going on. Something no one usually has to deal with, something that most people can’t even imagine. It must sound weird, crying and laughing… crazy sounding really. I thought, if it wasn’t for the laughter I would have been in a padded room to keep myself from myself! So, as silly as it sounds, I welcomed the laughter… the crazy person that I was listening to was myself… The calm, collected, information gatherer was gone… the person that spent countless hours a day doing therapy, talking to doctors, being a mother, while all the time being a wife and friend had left the building… at least for the moment. I needed to let my mind drift off. I just sat, without words… for probably 3 hours.

After I got done feeling sorry for Jamison, feeling sorry for myself… realizing what my friends and family told me was true; God doesn’t give you more than you can handle… I pulled myself together.

Jamison didn’t change that day I got this information, the love from his family didn’t change when we got this information either, just what doctors and therapists call him. Just the medical description for that thing that makes him my little sweetheart, my little man, my miracle.

It’s hard when you hear a doctor say “mental retardation”. Actually, it’s heartbreaking… but that won’t change my love for my beautiful son, that won’t take his smile away from his cute little face, and that certainly won’t take away my hope…