Tuesday, August 6, 2013

Our Journey is Over

What has transpired the last week has truely been a miracle for our family.  Last Wednesday, upon reading a post in a CF Facebook group I belong to, I was inspired to check CFTR2 just to check on Evan's second mutation that keeps us in limbo.  I check it every once in a while and the status always remains the same:  This mutation is still under evaluation and it is unknown if it causes disease.  Well this time after I punched in the numbers and letters I was shocked to see the words NON CF-Causing.  What?  I must have typed in the wrong letters and numbers.  I retry.  NON CF-Causing.  WHAT??  I was in shock.  I was feeling all sorts of emotions.  Michael was on the phone and I yell for him to get off and look at the website.  He reads it and I can see skepticism on his face.  I was feeling it too but I was alos REALLY excited!  We decide to not count our chickens before they hatch so the next morning I sent an email to Evan's doctor who almost immediatly responded to me that he would check out the updates and get back to me but that this was a reliable source and at first glance it seemed like good news indeed!  Elation hits me like a bick in my face and my heart races for the next 5 days until we were able to get to our biannual appt that happened yesterday.  Traffice getting into Philadelphia was a nightmare and a normal 45 minute trip took and hour an hour and a half.  All the while my head is spinning with wondering how this meeting will go.  5 days ago the status quo would have been perfect but today that would be disappointing given the information we have found.  Finally upon arriving and being put into a room the doctor was right on time for our appointment and we got into things.  Long story short he says to us "Should we undiagnose him?"  Um hell yeah...this is what we have been waiting for for 18 months and here it is staring me in the face.  I'm dumbfounded.  Honestly I never thought this, the best scenario of them all, would happen to us.  I honestly thought we'd be sitting in limbo for the rest of our lives.  I honestly thought that no one was ever going to research that mutation and it would always be of unknown significance.  I'm happy to say I'm wrong.  I'm happy to say my baby boy is just a carrier.  I'm so incredibly thankful.  Thankful doesn't even seem to be the appropriate word. 

I realize that our situation wasn't worst case scenario and that for those who fight CF everyday this seems like a trivial situation.  Being in limbo sucked in it's own right and I don't wish it on anyone.  I believe that researchers felt the same way now that there are quite a few of us who sit in this limbo which is why they made these updates to about 20 mutations that sit in this unknown or varied significance.  They could only do that because of the generous donations to the cause.  Because we have now benefited from this we will do everything we can to continue to support CF funding so that others can feel our joy when they develop more of these amazing drugs to help control this disease nd better the quality of life for those who fight it everyday.  A cure is hopefully on the way and we're going to make sure we are helping to find it! 

Thursday, May 30, 2013

Great Strides Philadelphia

April 27th was the Philadelphia Great Strides Walk.  My husband and I formed a team (Team Heavy!) and raised money.  Well more like I raised money.  We had some family come out from Colorado to walk with us and my dearest friend Kristen came with her husband and her son.  My freshman year roommate and one of my best friends came with two of her kids.  Her son was diagnosed with Wilms Tumor when he was two years old.  He went through a surgery to remove a kidney that the tumor was on, chemo and radiation all at such a young age.  He's now almost 6 and his checkups have been clear so she knows what it's like to have a kid with a health problem and the constant worry you feel as a parent.  It's nice to know I have someone who's been in the trenches to lean on.  My sister was able to come as well along with my mother in law and her mom.  So we had a small team comparative to the other large teams. 

I felt weird being there.  I often feel as though I don't belong in the CF community...that I might be parading my son, who is currently not sick or diagnosed, in front of other parents who have sick kids and others who have tragically lost theirs to this disease.  However the other side is that I want to support this community that I now feel connected to.  The most awkward part of the whole thing was registration when they handed me my team sign...and a yellow lei.  I wanted to give it back and say I didn't need it but then I thougth twice when I remembered that Evan's doctor had told another CF mom that I met through Cystic Life that our boys shouldn't play together to be safe.  So I took the lei and went back to our group and talked to my husband.  I didn't want to put it on him but Michael said if the doc precautioned us from playing with another CF baby then we should practice the same here.  I didn't like it but we did.

The walk itself wsa nice.  It was a beautiful Spring day and the walk was at Citizen's Bank Park which is the baseball stadium the Phildelphia Phillies play at.  We did a couple laps around the concourse and we got to do a lap on the field which was really cool.  Connor loved touching the dirt and running around in it and we got a couple good photos.  Evan was just kind of like WTF? the whole day.  I think Michael enjoyed being on the field the most as he's an avid Phillies fan!  All in all I raised $1600 for Team Heavy.  Not a lot but every dollar helps! 

A couple weeks ago I volunteered at another local Great Strides Walk in continued support of the cause.  I can't say I have ever volunteered a lot but it felt really good even though all I was doing was handing out tee shirts and squirting antibacterial lotion on the hands of all the kids playing the games. It's definitely on my list to keep doing. 

Thursday, May 16, 2013

Makin' Babies

One of the bigger concerns I've had (I know...there are bigger concerns in life especially when it comes to CF) through this whole thing is whether or not Evan would be able to have a family when the time comes.  As an infant the pulmonolgist would feel around to see if Evan has vas defrens and he thought he felt them.  In February Dr. K referred us to a pediatric urologist.  We went a week later and we met with Dr. C who is an older gentleman was an awesome doctor.  Very upbeat, very friendly, very happy (when I got our bill Ii realized WHY he is so happy...oy) and he treated Evan so well even though he was crying and trying to crawl onto me with every ounce of his being.  We finally got him settled enough to lay him down for the exam.  Thankfully as he felt around he was able to tell me that he indeed felt two vas defrens!  Great news and another step toward the goal.

The goal...what's that?  I guess our goal is to come to a conclusion.  I know we may never get a solid no answer but I suppose it's possible one day we could get a solid yes should Evan show late onset symptoms as they seem to be discovering more and more lately.  How do aI feel about this?  Ultimately I would obsiously love for the stars to align and the researchers to tell us that R1162L is in fact a benign variation.  I don't think that is ever going to happen.  Sad face.  So, next best is that Evan never shows any signs of CF EVER.  That seems to be fading as I think they are thinking he might perhaps have a touch of asthma which I'll get to another day.  So, given asthma symptoms can sometimes be similar to CF symptoms, I'll always wonder if we're going down the correct path.  Only time will tell for that.  Worst case is that they one day decide ok he's got this, this and that and we think we can diagnose him with CF.  That's not best case BUT the silver lining would be closure.  But, for now, it's definitely a maybe. 

Tuesday, May 14, 2013

Now this is a story all about how...

...I have a blog!  And I stink at writing in it.

I've been going  back and forth on whether I wanted to continue this blog.  No one really reads it so what's the point?  But then I remembered why I started and it wasn't to have a big readership but more for my own therapy and if someone happens to google CRMS or Evan's mutations DF508 and R1162L and somehow this blog comes up and gives them hope then I've done my job.  While I don't write often when I do write a post it feels like I'm getting something off my chest so I'm hoping to keep up a bit more since I feel like I can't write this whole "CF grey area thing" off completely.    So let's back it up to February.

I scheduled Evan's 1 year follow up with his CHOP Pulmonologist.  I took my mom for moral support since Michael couldn't go.  Overall the appointment went well and when Dr. K walked in he actually wondered why we were there since he thought he had told us not to come back when we spoke on the phone about the normal sweat test result.  I don't recall those words coming out of his mouth and I'm sure I would have remembered that!  So we talked about his illnesses in the last 6 months and the current dry cough he had been experiencing since his last cold.  Based on this information he concluded that Evan probably has allergic rhinitis and ordered an allergy medicine.  Since we weren't "symptom free" he told us to come back in August for a biannual follow up rather than waiting a year.  I asked about Cystic Fibrosis Related Metabolic Syndrome and he said he wasn't going to go there just yet since he doesn't have enough "clinical" information to go on.  From there I told him about the woman in Poland with Evan's same two mutations and that the only symptom of CF she has had was that she had difficulty getting pregnant and they had to use IVF.  This put the idea in his head to refer Evan to the Urology dept to check for vas deferens.   Basically we're going to tick away on a list of tests to see where the road takes us.  Again, this was a very good appointment and since I was expecting bloodwork to be done and possibly a chest xray and sort of thinking that we would be walking away with a CRMS diagnosis I was on cloud 9!  Mom and I took Evan to lunch and to the mall for some much needed shopping! 

More later on the vas deferens check, a Disney vacation and a cough that wouldn't go away....

Thursday, February 14, 2013

Rant on Valentine's Day

So next week is Evan's 1 year appointment at CHOP.  I'm not nervous persay but I'm definitely on edge.  Compounded on top of this is the fact that I have to go to this appointment with Evan by myself.  I go to plenty of doctor appointments with the kids alone.  Michael has been to the pediatrician MAYBE 2 times in 3 years.  I went to every ultrasound appointment by myself when the boys were being diagnosed for Pyloric Stenosis.  This isn't the pediatrician's office.  It's an apointment in a huge city hospital where sick kids are all over the place fighting terrible diseases and it makes me anxious.  And it's about our baby who will have to have bloodwork done and I can't fathom how I will stand to hold him while they stick his little arm to get the blood.  After having two baby's need difficult IV's for severe dehydration from PS and 2 sweat tests I knew enough that Michael had to be the one to accompany Evan in the 3rd sweat test and any blood work he may need in the future.  It's just terrible to hear your baby scream and not be able to do anything about it.  Dads have to do that stuff. 

Last week I told Michael that this appointment was coming up and he needed to make sure he had off from work which several months ago he assured me that this wouldn't be an issue.  Well it's an issue and he cannot get off.  I was so angry.  Angry because in December he was able to get off for numerous Mummers events and New Years.  Angry because he said he didn't want to ask off back then because he was asking  for all those days off and didn't want to look bad but that it wouldn't be a problem come the new year.  I got that.  But he waited a month and a half to find out and of course something was scheduled for that day.  I am so angry i haven't even told him I'm angry.  That's how I know I'm really mad. 

So I asked my mom if she could go with me.  She has been watching my niece while my sister is home and since my sis will probably have ot go to NYC next Thursday and Friday and my dad isn't comfortable with staying with the baby all day long my mom can't go unless she brings the baby.  Well I don't want the baby to go to the hospital and fear her catching some kind of bug lingering around there.  Plus that kid can cry.  It's not just any cry, it's that high pitched screech that only estrogen can cause.   It makes me thankful that I had boys...they don't have those octaves even as infants! 

Anyway, this is just my vent about constantly being the parent who has to be "on".  I'll put on my big girl pants and do it, of course, but I don't have to like it.

Hope everyone is having a fun day today.  This day last year I was miserable.  We had the new possible CF news in our heads 24/7 and a vomitting baby and a doctor refusing to let me get Evan an ultrasound to rule out Pyloric Stenosis....because in her mind there was no way we would have 2 babies with PS and we were probaly just looking at reflux.  Well she was wrong.  In two days it will be 1 year since Evan's PS surgery which was followed by the worst PS recovery ever (in my mind!).  Glad those days are long behind us and these are exactly the reasons that keep me from having the 3rd baby I always wanted (aaaand that girl baby scream I referenced earlier helps with that feeling as well).

Tuesday, February 5, 2013

Day 6 came and went

So February 1 was the anniversary of Day 6.   Day 6 was the day that the words Cystic Fibrosis came into our lives and would forever change our landscape.  Looking back on those dark days last year I remember thinking that life would never be normal.  I was so scared to breathe.  I would wake up in the middle of the night to feed Evan and hope that I was waking up from a nightmare...each and every time.  Thankfully today I have come to terms with our "grey area" status.  I am fine with it for the time being becasue Evan is healthy. I also know that should he start to get CF sick some day that I will be more emotionally equipped to handle it.  I know more things and have educated myself on the topic enough that it makes sense now.  It's all going to be ok.  Took me a year to get here but I'm here and that's all that matters. 

Yesterday I took a leap and told some family members of Evan's journey in the last year.  I was nervous to upset them especially so because my family has suffered some unfortunate events in the last couple months.  Both of my grandparents passed away within a day of each other right befroe Christmas.  One expected and one very very unexpected.  My aunts mother had cancer related surgery and my dear sister is going through some very tough times in her marriage.  Needless to say I didn't want to pile on but thought that even though initally they might feel sad that in reality (given all that is going on) Evan's status isn't that big of a deal right now.  After the tears were shed they realized that he is A OK and we moved on.  It felt good to let that go.  I hated having to hold it in but we didn't want to upset my grandmother, god rest her soul. 

The reason I finally disclosed this information is that Michael and I signed up for the Great Strides Walk in Philly in April.  So I'm going to be putting a blast on the Facebook and send a group email to friends and family for support and I didn't want to blind side them and THEN have to explain. 

As for Evan he is currently with a runny nose and a bad attitude.  I can't tell if he's teething, has a cold, whatever.  He does have a cough at times and it usually comes after I hear congestion in his chest.  Sometimes I want to call the CF clinic at CHOP and cry to someone because I feel like he's been sick for so long and i get myself scared that it's a CF cough.  I try to remind myself that the doctor told us to be concerned for a cough that is present with no signs of a cold.   He's never going to be able to just be sick.  He had his 1 year well visit (oh that's right he turned 1 on jan 26!) last week and the pedi said his lungs sound clear and he didn't sound junky even though it was the height of this particular cold.  He weighs 22.8 lbs, and is 30 inches long.  His head is 18" in circumference.  Pretty much in the 75th percentile and doing well.  He still does not eat a whole lot of table foods but we've certainly made improvements in the last month or so in foods he will eat.  Sill mostly carbs and fruit cups.  We have an appointment at CF clinic on Feb. 22.  I'm interested to see what will happen there and I'm dying to know if they will diagnose him with CRMS at that time or if we'll just keep him under evaluation.  That's all that's going on with us for now. 

Thursday, November 29, 2012

Fantastic News from Poland!

Christmas came early and it came from Poland!  So Sunday was the best day of our year so far.  OK well second best if you count Evan's birthday but I can officially say that I have gotten life changing news.  Michael and I came home from our 5th anniversary getaway with a train set and a Christmas tree strapped to the roof of my Mazda.  We put up the tree, watched a Mickey Chritmas movie and watched the new train go round and round.  While we all laid on the dining room floor watching the train I opened my email on my phone and saw I had a notification from CysticLife that someone had replied to one of my questions regarding Evan's mutation R1162L.  When I read this woman's response tears filled my eyes and my heart raced.

My new bestie from Poland - we'll call her MZ - was writing to tell me that she has both of Evan's mutations and what's even better is that she's 33 and perfectly healthy!  She only just found out this year when her baby, who is now 8 months old, was flagged through the newborn screen and genetic testing was completed.  Thankfully in Poland they immediatly do genetic testing on the parents and it was confirmed that MZ is the carrier of both DF508 and R1162L that they found in her son which means it's most likely  that her son is fine since both of those mutations would be on one chromosome.  Further genetic testing will be done on her parents I guess to determine if she got one mutation from each parent.  I hate to say it but I almost hope that she did.  Not that I want MZ to have CF but it would mean that if Evan did get a mutation from both Michael and I he has a great chance of being healthy as MZ said she has little in the way of health problems and what she does have is not related to CF.   She said she will keep me posted on the final results of all their family testing.  I'm anxious to hear.   I know people with the same mutations can have vastly different symptoms and severity but since R1162L has an unknown clinical significance I have to believe that it's practically benign and my baby will be just fine.  I have to have faith that if it did have clinical effects they would know something given there are people out there who have it and now with MZ coming up at 33 years old and perfectly healthy it just strengthens my faith. 

This news coupled with Evan's fantastic results form his repeat sweat test make me feel amazing.  This year was so dark in so many ways that I might just see a little light.  Thanks MZ.  You have no idea what you have done for me from so many miles away across the ocean.