Will’s Way, Life with Cornelia deLange Syndrome

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.

We’ve been seeing docs this fall, trying to get all the systems checked.

Eyes: We saw Dr. Beers the retina specialist.  Your retinas are at risk for detachment due to the level of severity of your myopia,  but there is nothing to be done at this time.  We saw Dr. Simon, your pediatric eye doctor.  Your perscription actually weakened a bit but you still can only see a few inches from your nose.  It’s a wonder you get around as easily as you do with how bad your vision is.  New glasses from Empire Vision bought in late Oct. 06.  You like them as much as your old glasses. 

 Ears: Infections cleared and tubes at this time appear to be in and functioning.

GI: No visit to the specialist but another treatment for esophageal candida.  You were exhibiting signs of either yeast or obstruction…difficulty swallowing, gagging, bringing food up and eating obsessively.  We opted to try the Diflucan(start date Oct 28th) to see if that helps with the symptoms.  Within just a few days(by Tues/Wed) we saw less eating, less gagging, less difficulty swallowing.  At this time we’ll have to guess that it was yeast that was causing you trouble.

 General Health:  Check up with Dr. Harro in late Oct. 06.  You are 49″ and weigh 64.  Gain of 6 pounds since August!!!  We’ll see if that levels off after the Diflucan treatment.  Tetnus and whooping cough booster and blood work.  Your iron levels are still within normal limits so it appears the Prilosec, which was perscribed in April after seeing the blood in stomach, is doing it’s job.  We didn’t determine when your levels should be checked again.  Dr. Harro was able to get a good draw on that one vein in your right foot..first stick.  He’s my hero.

 We still need to do teeth. 

I have an appointment scheduled with an orthopedic surgeon for you to get a baseline for your scoliosis.  Dr. Harro didn’t think it looked too bad visually so I may cancel the appointment.  Why put you through the trouble if it’s not necessary?

 Skin:  We saw a dermatologist for that bumpy rashy stuff all over your body.   The scientific name is Keratosis Pilaris  but basically it is dry skin, clogged hair ducts.   Nothing to be done for it.

 That’s about it for now.  Your health has been pretty steady…just the swallowing problems.  We’ll keep an eye and make sure the Diflucan really does the trick.  Otherwise it’s back to Boston for a dilation.

Link to our results page to view more pictures:

 http://www.cdlsusa.org/teamcdls/chicago_results.shtml

Wow, What a powerful weekend.  It was such an amazing experience to be joined by this large group of people, all working for the same cause.  My life has been enriched having spent time with this group.  They are all caring, supportive and so generous with their time and energy.

 All 15 runners completed the marathon and the team has raised nearly $30,000 for the Cornelia deLange Syndrome Foundation.  Outstanding!

 My personal marathon experience was amazing.  I was plagued by a nagging injury through the training and had a bad flare up 2 weeks before the marathon.  I thought for sure I would get about 6 miles and have to stop.  I had lots of knee voo doo the week before,  a cortisone shot, and lots of people sending vibes or praying for me.  I also had two guys on the team who ran with me step for step for most of the marathon which gave me such strength and confidence.  Lastly, my thoughts were with Mikey and his family that day.  Knowing the struggle and pain he was enduring.  I thought of him each time I thought I was getting too tired. 

 So all of this powered me through 26.2 miles.  I was never so happy to see a finish line as I was this one.  I really felt the need to finish.  To do it for Will, Mikey, Lisa and all of our kids with CdLS.  I’m so glad I could!

 Thanks to all the great people on the team.  Thanks to our supporters!

 I’ll try to add some pictures here.