Monday, May 12, 2014

January 13, 2011. Cameron has Rett syndrome: Our letter telling our family, friends and the world.


January 13, 2011
Cameron is one in 10,000 girls.
 
As you may or may not have known, Cameron has recently been tested for genetic disorders, specifically Rett Syndrome. After several weeks of waiting, the test came back positive. Like many of you, we had never heard of this before. When we looked it up, we were terrified at what we found.
 
This is an extremely rare disorder that predominately affects girls. The odds of having this are 1:10,000 girls. There are several different mutations of a gene that causes Rett Syndrome. It is not hereditary; it is a fluke.
 
These girls develop normally for their first few months, as Cameron did, and they hit some milestones on time. From 6–18 months, these girls have a regression in skills. We did not notice a regression, but that might be because Cameron never had the skills to begin with, like crawling. To this day, Cameron is 22 months old and cannot crawl, walk, talk (a few syllables), and has lost manipulation skills in her left hand. I cannot even describe to you how it feels to watch kids Cameron’s age and a year younger than her cruise by her in every facet. Unfortunately we do not know what the future holds for Cameron, but we have a lot of hope.
 
We now understand that there is a very broad spectrum for this disorder. I will give you reputable resources to review for Rett Syndrome because when you do a general search, the most common results are outdated and give the worst-case scenario.
 
www.rettsyndrome.org
www.reverserett.org 
(This is the place to go to read about Rett treatments, science, reversal, etc.)
 
After receiving the devastating news, my body pretty much shut down. I lay in bed feeling paralyzed yet feeling a lot of pressure from the baby down low and in my legs. I just lay in bed for hours, terrified that I would go into labor early. I’m doing as best as I can while 35 weeks pregnant, as #2 must stay in a few weeks longer and all this stress is not good. 
 
One of my sisters (Thank goodness for a big family—especially lots of sisters!) told me two things the day we found out the diagnosis that really helped:
1. This will be the hardest day.
2. Cameron is so happy. She doesn’t know she’s different. It’s you and Billy this is going to be difficult for. 
 
FACT and FACT
 
Another sister told me "You are not a victim.  Use all this energy and do something positive with it."
 
FACT
 
At all six Corrado-kid weddings, my dad gave similar speeches about family, which you may or may not remember. He said It takes a village to raise a child. And of course from the Godfather “May your first born be a masculine child” (which has no application here, but just funny). Growing up in a huge family surrounded by a wonderful community, I have always believed in the thought that “It takes a village to raise a child.” We are very blessed to have such an amazing support system through our family and friends. 
 
After a lot of crying, laying in bed, staring, feeling numb, we woke up the next day realizing that we now have a diagnosis and can more forward. There was some comfort in knowing what we are dealing with and now to move on. 
 
Since we found out, we have been in contact with a woman with great knowledge about Rett Syndrome who also has a strong connection with key opinion leaders in the Rett field. This was her response to my email, which gave us a lot of hope:
 
I am happy you reached out to me. I am an advocate for girls with Rett Syndrome all over the country, and I can honestly tell you that I will leave a smile on your face when we are finished talking. Rett Syndrome is not degenerative and it has been reversed in mice with Rett Syndrome and also in human stem cells. We are heading into clinical trials with a drug any day now and a second drug has already been found that reverses Rett. It is the only known Autism Spectrum Disorder with a known genetic cause and the entire autism and Down Syndrome community is waiting for us to unravel the mystery of the Mecp2 gene because we know it is also the culprit in other disorders. My child was also diagnosed at 22 months, and at age six, she is incredible. She is in a typical classroom with typical children and THRIVING. Your daughter will improve tremendously. This is not a death sentence!!
 
I later spoke with her over the phone for 45 minutes, and she told me about all the wonderful research and people to contact. It seems as though we might be doing a bit of traveling for resources, but there are so many resources in Chicago. It was a tremendous relief speaking with her. I know it sounds strange, but it got us excited to be part of all of this. We are hoping Cameron can be part of a big breakthrough, as we know she is destined for greatness.
 
I am so incredibly grateful to have Billy as my husband and Cameron’s dad.  He has been eternally optimistic. When we woke up, I looked on the Internet for charity events in Chicago for Rett Syndrome. I told him there was a Strollathon in Chicago on May 14 (please save the date). He smiled and said I’m way ahead of you. I know. Plus, we are going to start a fund for Cameron. We have so many resources so will have a fundraiser. It won’t be productive for us to feel sorry for ourselves. We are going to do everything we can for her. It’s going to be okay.  That positive attitude is exactly what we need to have. Oddly enough, both fundraising ideas that Billy had right away involved golf… hmmm, weird. I guess Cameron and I will be the in cart selling beer on the course????  
 
I cannot tell you enough how much we appreciate all the love, support, prayers, and thoughts you have sent our way. Please continue to do so. If you have any resources or contacts that might help us, we would also greatly appreciate their names.
 
Every time I was at the other end of news like this or saw parents with a child with disabilities, I thought "How do they do it?" Well, we know the answer now—there is no other option. You do not know any differently because you do anything for your child. A friend of mine from Lake Forest told me she never realized how much her parents loved her until she had her own child. I couldn’t agree more. I always knew my parents loved me, but you just don’t understand the depth until you have a child of your own. It hurts me to see how much my parents are hurting knowing that their child and grandchild are going through this and they cannot fix it either. 
 
We refuse to think that we are victims here. We are fighters and will do everything we can to help Cameron just as she works her little butt off everyday. We will be fundraising to help research a cure for Rett Syndrome. At some point, when I find time (between six therapies/week, appointments, and oh yeah, five weeks from having a newborn…ha!) I will set up a blog, as I have been documenting all of this for a long time and will continue to do so. 
 
Please know and believe that after we got over the initial suckiness (no other way to phrase it) of the news, we are relieved that we know exactly what we are dealing with.  Please know that we are extremely positive that this will be reversed and Cameron will be okay. Please do not feel sorry for us or act differently around us. We know that the best thing for all of us, especially Cameron, is to be around people.
 
We are hopeful that #2 will be the best therapy for Cameron. 
 
Our mind is set on Cammy Can.
 
Love,
Jackie, Billy, Cameron, and The Deuce

Wednesday, May 7, 2014

Letter #26: January 7, 2011


January 7, 2011
2:45 pm
Dr Farabee: "It's positive.  Your daughter has Rett syndrome"

LOSS

I always thought going through the stages of loss was only when someone died.  It’s not true.  I have been going through the stages of loss.  I haven’t lost my child, but lost the idea of a perfect child.  I used to think hearing “loss of a perfect child” was dumb b/c no one is perfect.  But I have realized that it’s means that you have all these high hopes for your child and want the same opportunities for them that every other child will.  And the day you start to realize that your child will not have those things, you have lost your perfect child. 

Denial
Anger
Bargaining
Depression
Acceptance

I think you go through these stages for different amounts of time and might flip back and forth to stages.

Denial: November 23, 2010.
This is the date when we went to the physiatrist’s office and first heard of “Rett Syndrome.”  I kept thinking that my child couldn’t have this b/c she doesn’t fit into all the symptoms of it and has seems to be making progress.  Painfully slow progress, but progress nonetheless. 

Anger:
I go through this all the time.  As a matter of fact, I have been going through this for the past 15 months when I started to realize how behind Cameron was.  It was anger at myself, thinking I wasn’t doing something right, that I was a bad mom, that she would have been better off if I went back to work and she was in daycare.  Why couldn’t I get my child to move?  Then, for short amount of time during the day, I would get angry at her.  I know it’s terrible, but I just couldn’t understand why she was different and so far behind.  Then, I’d get even more angry at myself for thinking and feeling that toward my little innocent angel. 
Why me?  Why Billy?  Why Cameron?  What did we do wrong?  Am I paying for sins from the past?  There are much worse people than me, why are we being punished?  Why would “God” do this to anyone?  It’s not fair!  Why do I have a child who is eternally 6 months old?  Everyone else has independence and I have none.  All other children can play by themselves and occupy themselves, while I am constantly on the floor entertaining my child, feeding my child, carrying my child, guessing what she wants. 

Bargaining:
God, I’d do anything for my child to be healthy and normal.  I really would.  

Letter #25: January 1, 2011


Happy New Year!
I hope this new year brings about all wonderful news and progress. 

We still have not received the results from Cameron’s blood work.  What could possibly be taking so long.  I was told 3-4 weeks.  It’s been 5 and a half weeks.  Are they just not going to tell me until our follow up appointment on 1/11?  Is it possible that it’s not Rett and they are testing for other things now? 

Cameron had her swallow test done on 12/23.  As we suspected, she is not swallowing her food.  She takes 3 bites and swallows.  Things like waffles, oatmeal, pasta, etc. are just sliding down her throat and probably breaking down easily.  Harder foods like meats and cheese are not breaking down.  When they watched her drink her juice, they noticed she has reflux.  So, with a combination of the reflux and hard foods, she sometimes throws it all up. 
We immediately changed her diet.  We took away all hard foods and acidic foods and drinks.  It has made a huge difference.  At least, we are attributing it to the change in diet.  In 10 days, she has not woken up once in the middle of the night and has even slept 1-1.5 hours longer in the morning!!!  I hope this continues.  We need to go to a nutritionist and GI specialist to get more information though.  In the grand scheme of what is going on, the not chewing and reflux is a very minor issue. 

Billy took Cameron to get her eyes checked on 12/30 at the Wheaton Eye Clinic.  He was very impressed with how thorough they were.  They spent an hour with her.  Her eyes have gotten stronger, however she is farsighted.  This news was definitely not surprising to us, as neither of us can see.  So, we get to go pick out some glasses this week.  Hopefully the glasses will help her.  We think she’s going to look so cute with glasses!

On New Year’s Eve, during the last half hours of 2010, I could not stop thinking that this is the last year (time) that we will have with our angel without a diagnosis. 

I hope I will have the strength to be the mom that Cameron needs me to be.  I hope she will never suffer or realize that she is different.  I was told that parents of kids with special needs hurt more than the kids b/c it’s the parents who know they are different.  I just wish Cameron would have all the same opportunities as every other child. 

How did we get here?  

Letter #24: December 20, 2010

… still waiting for the test results. 
I heard this song and immediately started crying listening to the lyrics.  It sums up how I feel.

COLDPLAY “FIX YOU”

When you try your best but you don't succeed
When you get what you want but not what you need
When you feel so tired but you can't sleep
Stuck in reverse
 
And the tears come streaming down your face
When you lose something you can't replace
When you love someone but it goes to waste
Could it be worse?
 
Lights will guide you home
And ignite your bones
And I will try to fix you
 
And high up above or down below
When you're too in love to let it go
But if you never try you'll never know
Just what you're worth
 
Lights will guide you home
And ignite your bones
And I will try to fix you
 
Tears stream down your face
When you lose something you cannot replace
Tears stream down your face
And I
 
Tears stream down your face
I promise you I will learn from my mistakes
Tears stream down your face
 
And I
Lights will guide you home
And ignite your bones And I will try to fix you






Letter #23: December 14, 2010


Don’t judge me.
I feel guilty enough for what is going on with my daughter, even though I’m told it’s not my fault.  I have terrible thoughts and questions that race through my head on bad days like “What’s wrong with you?  Why can’t you do this or that?  Why us?  I just want to have a normal life.”  I can’t even imagine how much more difficult this is going to get. 

Cameron has 5 hours of therapies at the home a week.  All I want to do during that time is relax or housework.  But I never can.  There is a constant guilt coming across me either from myself or the therapists.  I’m 7 months pregnant and carrying 45 lbs of baby and Cameron combined constantly and playing on the ground incessantly.  All I want to do is have someone else play and work with my child for a while.  I know that sounds terrible.  At these therapies, I end up on the ground trying to motivate Cameron or keep her calm. 

I can’t even recall the last time we went through a day without someone asking “Why does Cameron do this?  Can she do this?  Does she always do that?” Or giving me advice like “work on this.”  What do you think I do all day?   She’s supposed to wear a patch over her eye for 3 hours, wear her orthodics, SPIO vest, and thumb splints.  People keep telling me to just enjoy my child.  How am I supposed to do that with all this shit she has to wear and she hates it.  Why does she have to work so much harder than everyone else?  Why will she always have to?  And will it result in a normal life for her? 

This afternoon, I went in her room 20 minutes after I put her down for a nap only to find her sleeping in a puddle of puke.  She can’t even sit up to get herself out of the puke. 

I know people do have it worse than us, but I’m so sick of people telling me their “sob” stories of how they were sleep deprived with twins, or their child is a picky eater, blah blah blah.  Those are stages people went through for maybe a couple months.  My daughter is 21 months old and we’ve been stuck at 6 months old for 15 months and who knows how much longer.  My child cannot sit and play without falling over after 10 minutes.  And when she does fall on her side, she cannot push back up.  My child does not move.  She might roll over, but does not move forward or backwards by crawling or walking.  I constantly have to be vigilant of my child.  She has no independence and neither do I.  I still have to feed my child.  She doesn’t talk or even indicate what she wants by pointing.  It’s a guessing game.  She’s 21 months old and we still have a 6 month old.  I don’t want to hear about how rough your life is. 

I called the physiatrist’s office 2 days ago and left a message, but I still have not heard back.  When are we going to find out? 
                                                                                  
What’s it going to be like when the baby arrives?  How is Cameron going to react?  Are people going to give the baby more attention than Cameron?  Are people going to give Cameron more attention than the baby?  Is this baby going to be okay b/c we will have to give Cameron so much more attention?  What’s it going to be like when (hopefully when) this baby develops normally?  What is the baby has some fluke genetic disorder too?  God, please get us through this.  I just can’t imagine now what it’s like to have a typical child.  I can’t imagine how much easier life it.  

Letter #22: November 30, 2010


5:00 am

I have made the decision to journal this journey as therapy for me and to document changes in Cameron’s development. 

I kissed my baby goodnight last night, thinking that that might be the last seemingly “normal” night with her without a diagnosis.  As much trouble as I thought I’d have falling asleep, I did pretty quickly.  I had 2 dreams that woke me up though: one where the doctor called to say that the blood work came back positive; and one where she called to say it came back negative.  Since I woke from the second dream at 2:30am, I have not been able to fall back asleep. 

Researching Rett Syndrome on the internet is making me fear more and more that the blood test will come back positive.  But I don’t understand how the blood work back in June could be wrong, as little of a sample as they tested for it, how could it be wrong?  This waiting part is so difficult. 

Our families have been so wonderful; making sure someone is here to take our minds off of the waiting until we find out.  Today my parents are coming over to be with Cameron and me.  I keep trying to prepare myself for the phone call.  I don’t think there’s anything you can do to prepare yourself though. 

I’ve been involved in sports and around kids my entire life so it was no big surprise when I went into education, Kinetic Wellness.  As a teacher and coach, I’ve always needed a “game plan.”  Whatever the news is today, I need a plan.  I need to know what’s going to happen with my child and how to best fulfill her needs. 

I’ve been very fortunate to be able to stay at home with Cameron.  It’s been trying at times, especially the past year, not understanding why she isn’t developing like the typical baby/toddler.  I wouldn’t change it for anything though.  I could not imagine going to work while someone else was with Cameron at home.  I could not imagine coming home, asking a nanny what Cameron did, how she behaved, or what we need to work on in therapy. 

Whatever the outcome is today, Billy and I will be a united force for Cameron.  We are fortunate to have such a large positive support system of family and friends.  We are so lucky that our family members want to play an active role in Cameron’s life.  I need to start taking better care of myself for baby #2 arriving in February.  I need to start letting others help out more. 

1:04pm
The phone rang and I let it go to voicemail.  For some reason, I needed it to go to voicemail.  After 30 minutes, I checked it.  It was the doctor’s assistant telling me that the tests are very specialized and we wouldn’t get the results for 3-4 weeks.  She said to make a follow up appt in 6 weeks and to get the hip xray and swallow test done before that appt.  Why did the doctor tell me to call on Tuesday then?  I haven’t slept in days only to hear that we wouldn’t hear for another 3-4 weeks?!?!  I’m trying not to read any more into that; it is what it is and the test take a long time. 

Now, I have no idea when that phone is going to ring again wither Cameron’s results.