Will’s Way, Life with Cornelia deLange Syndrome

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. 

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

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. 

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.

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.

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.

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.

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. 

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.

Once again you are acting unwell/ in pain and we don’t really know the source.  First it was gagging, regurgitating and eating obsessively.  We tried a course of Diflucan thinking that it was esophageal yeast again.  Some improvement immediately and then you started with pain episodes.  Frenzied pacing, breathing hard, racing heartbeat, sweating and grunting in pain.  We’re trying to figure out if you need to see Dr. Fox in Boston again for a dilation and maybe some testing.  Now you have developed a significant cough so maybe you just had a cold coming on and were uncomfortable with that.  Maybe you do have an obstruction and aspirated food and have pneumonia.

 That’s the biggest problem with you…the question marks.  The not knowing what’s going on in there.

Knowing how quickly things can get fatal with our kids it’s hard to not get swept up into feeling everything is an emergency.  I hate to overreact but would hate more to underreact.