Our “Rare” Boy


imageThe results are in and the score has been tallied. After several months of various tests, trials and many tribulations, Theodore has been “diagnosed”.

Not really fond of the word diagnosed, because it sounds like he is ill. However, he is not, and instead just EXTRA-ordinary.

The Neurologist and genetic counselor did a great job of explaining Chromosomes (because well it has been a while since I had a lesson). Even though I understand the basics of chromosomes, I was thankful they created a personalized Power Point for Theodore to explain the complexity.

The genetics counselor explained how his connected and how little probes were sent into his blood samples to find the missing or added pieces and the problem. Then continued to explain how he was missing a piece of his 7th chromosome and then continued to give us the exact location….an address….

It was A LOT!!!

I am still carrying around the Power Point they created for us explaining all the details and it is what I have been handing to the family because… WELL… The PowerPoint does a MUCH better job explaining…

In my version of summing things up Theodore has a very RARE chromosome/autosome deletion. They call is a 7p22.1 autosome deletion. There are no syndromes or disorders associated with the deletion at this time, but there are some similar symptoms. Possible symptoms include: failure to thrive in infancy/early childhood, short stature, obesity, unusual facial characteristics,  neuro-behavioral disorders, developmental delay/intellectual disability/cognitive dysfunction, and loss of hearing.

However, some cases include one symptoms and other cases include more. It depends on the child and the severity. For us we still wait to observe and grow with Theodore to recognize his potential. Luckily, we have a great doctor, team and family that will be by our sides through each step.

There are some medical documents and information, but it is VERY rare that they are still researching and finding more information and details. They are unsure if 7p22 deletions are one in a million or BILLION.

Although, there are symptoms, as I said before each known case has been unique. Sooooo…in other words using Google to find more information is NOT possible and THANK GOODNESS. Googling can be SUPER SCARY.

Before we received the information we knew Theodore was RARE and UNIQUE, but now it is confirmed!!!

We have a RARE, handsome, fun loving, smiley little boy and for now we will, Report to Duty, and work towards giving Theodore all the possibilities and experiences we can. We will have to be patient with each step and we refuse to give up on pushing him to reach his full potential. When you see many of the symptoms you become fearful, but we know that our son is an individual. We know he will grow at his own pace and become the person God chose him to be.

Until next time,

Reporting to Duty

xox

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