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....

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).

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. 

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. 

Alone with Evan

I can barely remember my maternity leave last winter.  After Day 6 it's a blur of doctors appointments, worry and tears.  On Wednesday I got to thinking that I never get to spend any alone time with Evan.  I get plenty of time with Connor every night after Evan goes to bed and I cherish it so I decided I need to make more of an effort to make one on one time for Evan.  I took Thursday off to spend the day with him since that is the day that Connor goes to daycare while my mom watches Evan.   It was so nice to be able to focus soley on him and watch every move he made.  I got to work on table foods with him since he seems to have a bit of a gag reflex and hasn't been too keen on real foods that aren't puree.  He loved sucking on my apple and even attempted to bite it with his three lonely bottom teeth.  I put a couple teeny tiny pieces of it in his mouth and I think he was actually working on making the chewing motion, an act which has seemed to elude him.  Later that night at dinner he grabbed a piece of lettuce from my plate and for the first time brought food to his mouth!  I was so excited!  He's even showing interest in the sippy cup.  Now, these may seem like normal things for a 9 1/2 month old baby to be doing but you haven't had Connor as an older child.  It's hard not to compare the two but I never had trouble with getting Connor to eat.  He was never opposed and he took to the sippy cup like a pro at 6 months old.  This is all I knew so to have Evan be so blase about food and drink is a new experience and of course I worry that he'll still be drinking formula at 18 months while trying to grow out of this gag reflex and that he'll never learn to chew!  I know it's ridiculous. 

Yesterday I also realized that since Day 6 I have been wishing away this first year and I ever so regret it.  In the beginning of this journey I kept setting dates to make it to and my thinking was that once he reached that "age" we would know for sure that he was ok and we would know he wouldn't have CF.  I'm learning that isn't true.  We may never know for sure.  I made myself crazy for the first 6 months to the sweat test that I feel is the true indicator of his status.  I prayed and prayed that that day would get here and when it finally did I looked back and thought of all the time I missed out on worrying about every breath and every noise he made.  Even after he came back with a very normal sweat test result I still found myself looking forward to January and the one year mark and the next follow up visit we would have with Dr. Kreindler.  I keep checking off the symptomless days thinking that once we get to one year and no symptoms we'll be home free.  I know that's not the case so why am I not living in the moment?  I'm trying.  The fact that I know my rationale is not appropriate, or healthy, is a good thing.  It means I can try to change it.  So I think yesterday was a good start.  I just played with my baby.  I didn't think of CF once when I looked at him.  I just looked at him as my normal healthy happy baby.  It won't be long before I'm planning his birthday party and I'm focusing on that and not focusing on the appointment I need to make at CHOP.  I recognize it's part f our lives but that's the thing...it's only part...a very small part.  There are many others who have to make CF a bigger part of their lives but again...it's only part.

The First Cough

I knew this day would come.  Evan is sick.  Dr. K said that we should watch out for "symptoms of CF" which include the mucousy, stinky poo or a cough that isn't accompanied by any other cold symptoms that doesn't go away.  That's when we would worry that maybe he's CF sick and not just regular baby sick.  Thankfully his cough is accompanied by a runny nose and a generally cranky attitude otherwise I think I would be freaking out more than I already am.  I need to start writing things down because I already forget which day he started with the cough.  I think it was Thursday but note to self that I need to start a sick journal for the kids.   His brother is sick too so I'm sure he gave this cold to him.   This leads me to my current worry.  What if Connor has the same genetic mutations that Evan has and we just  don't know it.  He passed all his newborn screens but we all know that stuff isn't perfect, so now I watch him like a hawk and worry about him as well.  He's 2 1/2 and has had several sinus infection in the last two years.  This cough he has right now with the post nasal drip is really the first bad cough he's ever had and we're treating that with Claritin after we had his pediatrician listen to his lungs.  It's not respiratory which is good.

What if, what if, what if.  I hate that phrase.   I hate this place we're in.  I just  want my kids to get sick and me to give them kisses and hugs and just know they will get better in a couple days.  I don't want to think "What if this cough doesn't go away", or "what if those sinus infections are a sign that Connor has thick mucous in his nasal passages making it easier to get infections?"  One time it took two rounds of antibiotics to clear one up.  They weren't sure if it was one that he didn't get rid of or back to back.  I mean...what if?

Back to Evan.  Poor thing is snotty and gross but thankfully he's sleeping decently.  I propped up his matress last night so that he would drain properly and I didn't hear him cough at all.  Hopefully the poor guy feels better soon.  He was teething and miserable last week and now this week he's snotty and miserable.  Yuck.  October is always filled with runny noses in our house and I just discovered i have snot on my white shirt here at work!  Ewwwww! 

Parent Education Night. To go, or not to go? That is the Question.

The weather today is rainy and miserable.  I feel rainy and miserable as well which is funny because yesterday I was thinking about how happy I have been the last month or so and Evan's CF possibility is very far in the back of my mind.  Then I got the mail and my mood took a turn.

Everyday after I pick the kids up from daycare there are two things that happen.  We look for the donkey that some people keep chained in their yard (why?) and we go to the mailbox so as to avoid the temper tantrum from Connor that ensues if we do not.  There wasn't much in the box but I noticed a letter from CHOP addressed to the parents of Evan H.  I figured it was another donation request.  When I opened it I was surprised to see it was a flyer for a Parent Education night from the CF center and Parent Advisory Board.  I guess they have these once in a while and they speak on the relevant topics of current research and other things CF.  This one is titled Research and Clinical Trials and they are having a quest speaker from Vertex which I believe is the drug company that is working on the drug combo to help those with gating mutations, particularly the DDF508 population.   So my first thought is this, "Why would they send this to us?  Evan doesn't have CF.  Did I miss something from the doctor? " and basically started to have an internal freak out that he is on their "diagnosed" list.  In reality I'm sure they do not have him diagnosed unbeknownst to me and they sent it to us because we are in the unknown area and might want to educate ourselves and meet other people in the local CF community.  Then I thought  about whether or not we should go.  I always get nervous talking to Michael about this because Im certain he has written off the risks of Evan having CF completely.  He's like that.  I'm not.  No matter how healthy our little boy stays I will forever worry about the "maybe" of his situation.  Forever.  And ever.  I question whether I should go to this Parent Education night for several reasons.
1.)  Evan doesn't have CF technically.  We live life as if he doesn't have this question hanging over his/our head and in an effort to maintain my sanity I try to not constantly dwell on the what ifs.  I feel like if I go to this it will spark more worry and more questions and ignite more doubt in my mind about his future health.

2.)  If I go to this and start networking with parents of really sick kids will I make them feel resentful that I have a healthy child as I sit there learning about meds that really won't benefit him if he does get sick since he isn't homozygous DF508.  This is the same reason Michael brought up to me when I mentioned having a team in the Philly Great Strides Walk.  We kind of feel like we don't have the right community where we fit in.

3.) I'm scared.  I'm eager to educate myself on this horrible prpgressive lung disease but I'm terrified that one day I'm going to come across some tidbit of information that is going to scream "your baby is going to be very sick" at me.  Like I'll find the game changer or something definate. 

There are some pros of going. 

1.) Education while scarey can also be good and cathartic.  It takes the unknowns out of the equation and if there is one thing I have learned through all of this is that CF is chock full of unknowns.  But once you find some givens then you can work on them which is like finding a piece of the puzzle.  Right now I feel like our puzzle pieces are still scattered on the coffee table.

2.) I might actually meet someone in our same predicament.  Evan's CF doc told us that in the last few years we are part of a growing population of people who, through the newborn screen, get caught in this awful grey area.  When we had one of our first few appts with him last Spring he said there were a couple other families at the clinic right there with us.  I'd live to know how things are turning out for them.  Maybe they'll show. 

So I'm torn.  I don't know what to do.  I'll give myself until the end of the month to figure it out and I'll have to talk to Michael about it.  I hate that I feel so nervous talking to him when he should be the one I can confide in but for some reason he's so blase about it it makes me uncomfortable. 

As for Evan he is still healthy and smiley and happy.  I'm totally in love and I couldn't ask for more in a baby.   He sleeps through the night and drinks his bottles like a champ.  He's loves his puree food but don't you dare put a puff in his mouth because to him that is akin to attempted murder!  He's not fond of the sippy cup but will kind of try to drink from it if you hold it up in his mouth.  He also started crawling last week.  Time to put the baby gates up again.  This week we've been going though teething hell.  Hell I say!  I never had an inkling that Connor was teething until the tooth broke through.  Complete opposites these two!  Hoping his fussy days pass soon because the 1230am wake up and the clingyness is getting tiring! 

Off to finish work, go home and clean and greet my parents from their month in Hawaii visiting my sister and my new niece Scarlette!