January 5, 2008 at 5:30 pm | Posted in Uncategorized | 4 Comments

After months of trying to coordinate an OR schedule for your ears, teeth and esophagus, we finally got you in for at least ears and teeth.  Back and forth to Boston and local doctors, countless phonecalls and emails.  Months on end of you in pain and everything moving impossibly slow.  Ultimately coordinating in Boston was a no go .  Ears and teeth were the main source of pain so we went local.  After being dismissive about the condition of your ears, your ear Doctor came out of the OR very impressed with how bad your ears were.  I’ve been trying to tell him for months, but I’m just the mom, so what do I know?  Inflammed tissue, infection, gunk and junk from previous infections and blocked with wax.  Also a blocked passageway from a nasal polyp. So new tubes and a thorough cleaning and steriods so hopefully you’ll start to feel relief.   Your teeth were in bad shape too, also causing pain.  3 baby teeth removed and several fillings.  Janary 4th 08.

 My poor little guy.  You’ve been dealing with so much pain it’s no wonder you’ve been mostly miserable.  I’m sorry it took so long to get you fixed up.

4ft 4″  68 pounds Height/weight at pre-op physical in Dec. 


Sweet Sixteen

October 23, 2007 at 6:06 pm | Posted in Cornelia deLange Syndrome | 4 Comments

happybirthdaytoyou22.jpgYour sixteenth birthday has come and gone.  I was prepared for a depression or sadness to hit…but it didn’t.  You were so happy on the day of your family party…enjoying every bite of bread dip, each present and TWO versions of Happy Birthday to You!

So, you are not driving, you are not going out on dates, you aren’t studying for your psat’s, playing football, going to the Homecoming dance…but you are happy.  Mostly.  On a day to day basis you have simple pleasures to keep you happy; playing the piano, being pushed on the swing, orbiting through the house, going for a ride in the car.  You are safe and within sight and I don’t have to worry about you getting hit by a car or getting your heart broken by a dumb girl.  🙂

 Medically you need a tune up.  We’re trying to arrange a multi-specialist visit in Boston to take care of ears, teeth and esophagus.  It’s proving to be challenging.  In the meantime we’ll try to keep you as comfortable as we can.

Family Photo

January 14, 2007 at 11:25 pm | Posted in Uncategorized | 2 Comments


Mark, Will, Grace, Rachel, Beth and Leah.  Christmas Eve, 2006


January 14, 2007 at 11:08 pm | Posted in Uncategorized | Leave a comment


This is a funny picture of you.  Normally trying to capture you on film is much like capturing the loch ness monster on film.  If we do get you, you hardly look into the camera and don’t stand or sit still for more than a nano second.

 Well, on this night Grace and her friends were getting ready for a formal dance and everyone was taking pictures.  “Hmmm…pretty girls in pretty dresses…I think I need to be part of this” and you walk right over to the girls and turn for a picture.  🙂

Starting a new chapter for you…

January 14, 2007 at 10:54 pm | Posted in Uncategorized | Leave a comment

The state approached us with a project they have in mind for you:  the creation of a residential home for individuals who will soon be aging out of the school system.  Nancy Weber immediately thought of you, along with Austin and Robert, to fill this new home.  The project from first meeting to move in day could take 2 or more years. 

 Dad and I feel the timing will be perfect.  It’s the natural age you would have moved out had you not been born with a syndrome.  You will be ready to make your life your own and to have time away from us.

It will be hard to let go.  Who will love you as much as us?  But in the long run it will be best for you.  Some day we won’t be here to care for you, you need to have your own life established without us.

 We will make sure it is near perfect for you, and that you will be extremely well cared for and most importantly, happy.


January 14, 2007 at 10:49 pm | Posted in Uncategorized | Leave a comment

This weekend we said goodbye to Lisa.  Heartbreaking to see your friends hurting.  Heartbreaking to relive the early, raw grief.  Heartbreaking to know that your turn will be coming.

Frank and Julie are amazing people who have changed the world for people living with CdLS.  There’s no way to repay them for making our life easier.  I just hope that we can pay it forward.

 So good to be surrounded by CdLS families.  We go about our daily lives doing what we do because we have to.  There is something magical about spending time with those who truly know.  It gives me such strength.

New Year off to a good start…

January 6, 2007 at 9:53 pm | Posted in Uncategorized | 1 Comment

Will’s health problems persisted and brought us to Boston Children’s Hospital in early December to see our beloved Dr. Fox, his GI doc.  He ordered an abdominal ultrasound, upper endoscopy and an esophageal dilation.  The ultrasound was normal.  Endoscopy revealed inflammation up and down the length of his esophagus and throughout the stomach area.  Pathology results from biopsy were non-specific inflammation.  No yeast, no infection.  Dr. Fox thinks it was because his Nissen had become so tight which had an impact on the motility of his esophagus.  We doubled him up on his Prilosec to help with the stomach inflammation and hopefully the dilation will help the esophagus.  He continued to be in pain at home so he had a CT  of his pancreas to check for pancreatitis.  So far the results from that were negative.

Fortunately, just a few days before Christmas the pain seemed to suddenly stop and Will has been much better since.   At this point there is no need for round the clock pain medication.  Dr. Fox wants him off of ibuprofen because it is a stomach irritant so we only have Tylenol to use in the pain battle.  The reprieve from pain is so nice to see.  He is such a different person when he is feeling well.

His eating and swallowing is better…although starting to eat enormous amounts again.   This is always troubling.  He gets food obsessive.  Thankfully he doesn’t grow at the rate that he eats.

Is there ever peace?

November 21, 2006 at 10:29 pm | Posted in Uncategorized | Leave a comment

My mind goes off in this direction every time you are not well.  None of the options/outcomes will bring peace, it seems to me. 

Caring at home takes it’s toll.  The family is often divided because of all the things you aren’t able to do or can’t tolerate.  And while it feels good to do some of those things when we are lucky to have care for you, it never feels good to leave you out.  It’s tiring physical work.  It’s tiring emotional work.

 So then there is the care out of home option.  Who will ever care for you and love you the way I do?  The constant worry of wondering how you are doing in the care of others must be tortuous.  The heartbreak of starting that journey must be overwhelming.

 And what if you were to die?  Is the worry just filled with arms and heart so empty they ache?  Are you missed so badly that even the worst of days  of your life are wished back? 

 I’ve replayed these questions time and time again.  There aren’t any good answers.

 And yet the joy you’ve brought to the world is worth it all.

Still Not Well

November 20, 2006 at 10:16 pm | Posted in Uncategorized | 2 Comments

We stopped the antibiotic after several days because we wondered if it was making you feel worse.  Several days of hours of whimpering.  Napping or resting frequently, decreased appetite, eating and swallowing slow and carefully.  Contacted Dr. Fox again, spoke with his assistant.  Hopefully we will hear from them soon regarding a schedule.  It’s been a month now since you have been unwell.  😦

Started antibiotics

November 15, 2006 at 8:33 am | Posted in Uncategorized | Leave a comment

11/13- start date of a course of antibiotics…to empirically treat unknown source of possible infection.  Will try antibiotics for 10 days and if that does not resolve issue we’ll set up testing/procedures in Boston.

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