Monthly Archives: February 2016

It affects every aspect of your life

Today is Rare Disease Day. Kind of funny that they scheduled it on Leap Day, a rare day that only happens every four years.

I would love to be one in four.

When you are a rare disease/syndrome you are one in a million. In the case of PACS1 you are 1 in an unknown number. When you are a Pitts/Hopkins kid you are one in 300,000. It doesn’t matter if you are 1 in 10 or 1 in billions, if you have a rare disease/syndrome all you feel is alone. Continue reading

You have a diagnosis. Now what?

In February 2015 there were 19 confirmed cases of people who have PACS1 Syndrome. As more children have Exome sequencing, we have grown to 32 (known) families. In a year. Thanks to this blog, I am sometimes the first point of contact for the newly diagnosed. It is a role I cherish yet at times feel sad that I cannot provide the answers they may be looking for.

Welcome to the PACS1 family! Now what? Continue reading

Teacher 1 Parent 0

I honestly believe that homework is teacher’s revenge for having to deal with children all day.  I thought the math homework was bad. Then a few years ago we had our first “project”.  Abby had to make a simple machine.  Or should I say, David had to make a simple machine that turned into an inclined plane. There were tears, there were arguments and at one point there might have been some vulgar language.

I do not believe that is the intent of the homework project.  It is definitely the result.  Continue reading

Are you sure this is high school?

This is not the high school I remember.

When I graduated high school 20+ years ago I saw high school as a holding place until I began my own life.  I just had to get through it. I did not see the high school as the platform that would allow me to perform the high dive into life. Rather it was just there. I took the requisite classes (English, History and Math), took typing and gym and a foreign language. I spent a lot of classroom hours in study hall. A place where students where warehoused until their next class.

I read a lot of Harlequin romances in study hall. Continue reading

Photo credit: TSNY Boston

Learning to fly

Everyone should have a friend that is a daredevil. That friend that takes you out of your comfort zone. Sometimes I’m that friend who is able to convince others to get off the couch and try something completely strange and weird (aka Muderella). Sometimes I’m that friend that convinces you that you are stronger than you think (mile 9 during our first half-marathon).

Sometimes I’m the friend that is just along for the ride. Hoping that our friendship won’t lead to a medical bill. Continue reading

If we were having a glass of wine

If we were having a glass of wine, I would tell you that giving my notice at work was bittersweet. I have raised my children here. I graduated college while working here. I helped grow this company. It’s definitely time to move on, but I know Friday will be weird. Continue reading

It’s all about language

We had a very successful trip to Bridget’s neurologist. And not just because we survived it without Bridget setting off any alarms.

72372_910457372335403_7300223305316488247_n

She just looks innocent

I have to confess, of all of Bridget’s doctors her neurologist is my favorite. We’ve had her since she was a fellow (no, not a Jenner) and saw her through getting her MD. We’ve seen her choosing her specialty and having her first child.  Continue reading

Mirror, Mirror on my wall

I am not a fan of the mirror.

When I look into at the image the mirror, I see Rosannadanna hair and a face only Cher would love in the movie Mask. I see the long front teeth that got me nicknamed “bucky” by a vengeful cousin in JR High. I used to hate going into the bathroom that said “Bucky was here” where a chunk of the counter was chipped. Continue reading

I vote with my brain, not my gender

Every election season we are treated to refrains of who we should vote for based on who we are. Women–you must vote for the first woman president! Latino–you must vote for the first Latino president! African American–you must vote for the first black woman president!

It gets a little ridiculous. Continue reading