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.
Thursday, November 29, 2012
Friday, November 9, 2012
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.
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.
Monday, October 22, 2012
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!
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!
Friday, October 19, 2012
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!
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!
Thursday, September 6, 2012
Oh my gosh I'm a terrible blogger. May was when I created this and this is the next post! Haha! I didn't think it would be any different. Anyway, so much has happened in the last couple months. I guess I'll continue on with our story of the first few months in our (maybe) CF journey. This will be a longish short version of the last 6 months of our lives!
In my last post I mentioned that we would have something else to focus on other than the possibility of CF. I also mentioned that my older son had a condition at 4 weeks old called Pyloric Stenosis. I then mentioned my new baby puked on the doctors table as she told me that it would be almost improbable that I would have two children to have Pyloric Stenosis. Well guess what? After a lot more puking, we were told that Evan probably had Acid Reflux. He was put on Zantac. Yippee. But something didn't sit right with me. I knew these symptoms. It was almost exactly what Connor had gone through in the first month of life. I kept pushing the doctor in that week to give me a script to give him an ultrasound just to rule it out. I cried so much in that office that I'm sure I quickly became the crazy mom they talk about over lunch break. Finally after the third visit in a week she gave me a script to get an ultrasound at CHOP. That was a Monday. Wednesday we had our ultrasound and low an behold they found he had Pyloric Stenosis and admitted us through the ER. Long story (very long) short, he had his surgery and was home and in his bed by Sunday night. This surgery was sadly the least of our problems and worries at that time. Now we had two weeks until the sweat test. I tried to not be consumed with worry and fear and tried to stay positive hoping that Evan would only be a carrier of this CF gene. I mean, this stuff doesn't happen to me, right?
February 27th, 2012 - Sweat Test Day.
I had to go by myself. Don't ever do that. Take a stranger off the street if you have to. Children's Hopsital of Philadelphia is a huge looming place which we had plenty of experience with but when you're there for a test that could determine whether or not your 4 week old baby has a life threatenting disease you need support. Take someone. I'm pretty sure I tried to play it cool like this was NBD and I was so sure we'd get a negative result. The Sweat Test is the gold standard in diagnosing Cystic Fibrosis. It's an archaic test at that. It involves this crazy looking black box machine with dials and meters on it that looks straight out of 1950's medicine. The lady giving the test assured me they do many of these a day and they are used for so many things like asthma, for example. Only we weren't there for asthma. We were there for Cystic Fibrosis. Cystic Fibrosis? Really? Is this really my life now? I kept waiting to wake up from the bad dream I was having. Only I never did.
February 28th - Borderline Day.
All day we waited for the pediatrician to call with the results. By 4pm we hadn't heard anything so I called them myself. The nurse said they hadn't gotten anything back but she would have the Dr. call CHOP to find out. Michael left for hte studio at 5:30pm. No sooner did he pull out of the driveway did the Dr. call back. Now for an infant under 6 months of age a normal (negative) result is anywhere from 1-29. Borderline (maybe CF , maybe not) is from 30-59 and a Positive result is 60 and above. Guess what Evan's result was? 30. Well techinally 28 on one arm and 31 on the other so it averages to 30. Uhhg. Really? Again, bad dream. waking up. When is that happening??? I can't even go into details about the fear and frustration I was experiencing. I wasn't even this scared when both the boys were in surgery. I don't want to relive the pain again. The next day I had to call the CHOP CF clinic and speak to a CF Nurse Practitioner who said from what it sounded like we could hold high hope that Evan was still only a carrier but that since he had a borderline test we would need to meet with a Pulmonologist and have a repeat sweat test and probably further genetic testing. Fast forward one week.
March 5th, 2012 - Meet Dr. Kreindler, Repeat Sweat Test, Genetic testing
We go in and have another sweat test which according to the doctor he mistakenly ordered since he didn't realize we had the first test at CHOP. The result was exaclty the same. We really liked Evan's doctor almost immediatly. He was personable with us, had no problems talking all cutsey to our baby and generally he made us feel comfortable. He also told me that I wouldn't outlive my baby and that he could tell that even if CF was going to be our journey it woudn't be classic CF or very severe. Next step was going to be a blood draw for a full genetic sequencing of Evan's CF gene to see if he had a second known disease causing mutation which would lead to a diagnosis. The results from that would take 4-6 weeks. O.M.G. How would I even survive the wait let alone the possible outcome? Again, while I tried to not let the fear overcome my whole existence, I held onto the whole "this shit doesn't happen to me" mentality albeit that was slowly going out the window. Thankfully my sister was coming into town to visit and I had Connor's second birthday party to prepare for. Poor Connor. He must have been so confused during all of this. I tried my best not to cry in front of him but I was seriously crying all the time. It broke my heart when he laid his head on my lap one afternoon and said "Mommy sad." I knew I had to try to lock it up better for him. So I let myself cry in bed and in my car and I went on a nice little dose of Zoloft to help me through.
March 26th - Call from CHOP w/ genetic results.
So I'm just going about my day. Mid afternoon the phone rings. The caller ID tells me it's CHOP calling. For a split second I don't want to answer but I man up and pick up the phone. It's the doctor and immediatly I can tell he wasn't calling with great news. He asked how Evan was and I told him he was going great. I should mention that to this point Evan had absolutly NO symptoms of CF. So they found the DF508 as we knew, they also found 3 other mutations that are known to be benign. And there is this other mutation that they know of, R1162L, but it is still under review and currently has a status of unknown clinical significance. That means it may casue disease if combined with a known disease causing mutation or it may not. Wait and see. Wait and see. I can't exactly remember what the doctor was telling me on the phone but it had something to do with a CF Related Metabolic Disorder, genetic ethics (in regard to testing Connor) and he wanted to see us again. He made us an appointment for the 30th. I picked up Evan and cried and cried.
March 30th - Second meeting w/ Dr. Kriendler to discuss genetics results
This meeting went well. The doctor told us that we were were going ot love in the grey zone for the next few months until Evan was 6 months old. At that age they now order repeat swaet tests for borderline babies becasue hte threshhold for normal drops. If Evan stayed at 30 he would have a normal result. He said he had a good feeling that Evan was going to be fine and live a very normal life and that if he was going to have anything very severe he would be showing some sort of sign, most likely digestively or through a very high sweat test. Lung problems take a while to show up and to date he sounded wonderful and his chest xray showed nothing wrong.
March 31st - July 26th - I Break Down Internally and Hide it from the World. (This is Not a Good Thing to do people).
During this whole time I couldn't wait to go back to work. I envisioned it as a break. I went back on April 11th and people couldn't believe how excited I was! Only a few people knew what was going on with Evan but even then I tried to play it cool. But as soon as I would get into my car after work I would break down. The thoughts flooded my mind. Thoughts of the worst case CF, thoughts of all the treatments we would have to do, toughts of how this would effect and change our family life, thoughts about how this wasn't supposed to be the way our story played out. The thoughts that made me most upset was that I viewed this as my fault. Michael and I did this to our baby and he would be the one to have to suffer. His whole life would be affected by this little recessive gene that we passed on to him unbeknownst to us. So I did what any normal person would do and went on the internet. Oh my god the internet SUUUUCKS! I found little hope there at that time. Some people were supportive but others were so angry and negative that it made me even more scared and upset. People told me we should be doing preventive treatments on him and that if he has two mutations he has CF and blah blah blah. I sunk fiurther into my hole. I didn't tell Michael that I went onto the CF forums online because I knew he'd be concerned since doctor told us to NOT do that. There was one woman from Chicago who contacted me and said that she had almost an identical story to our. The only difference is that they never found a second mutation in her baby and that at that point her baby was old enough for the 6 month sweat test and it had dropped down from 30 to 15. I could only hope and pray our story was going to happen that way but by that point I was so low that I was trying to accept his fate. I decided I had to go to the doctor for a higher dose of the happy pills which I secretly hid from Michael for a while. I also considered seeing a shrink but time didn't allow for that. The slightly higher dose combined with staying off the internet forums helped greatly. I made it to the big day in mostly one piece. 6 month sweat thest!
July 27th - 6 Month Sweat Test.
I made Michael go into the lab for the actual test. I could't do it again. I was a nervous wreck that morning anyway and I was positive I would break down while Evan cried. It's the longest 10 minutes of your life. We followed up with Dr. Kreindler again who after reviewing Evan's chart and asking us some general questions again said to us "This is not CF". OMG.. Best words ever! He said at best he's going to have to diagnose him with CF Related Metabolic Disorder which essentially means nothing but htat he has two mutations but they can't confirm anything one way or the other. It'll mean when he goes to have children there will need to be talk about genetic testing of his partner. Oh and he can feel Evan's vas deferens which is a good sign! 95% of men with CF are missing the vas deferens and cannot reproduce in the normal manner. It also means that he sould possibly be more of a candidate for pancreatitis as an adult and some mild CF symptoms that we would treat as needed. He said he would call that afternoon with the Sweat results. Honestly I was expecting them to stay the same given our track record with testing the last 6 months so I wasn't too concerned. Of course Michael was not htere once again when the call came in but this time it was OK. Evan's sweat result was 16 and 18!!! Totally normal and NICE AND LOW!!! I was in such disbelief that the doctor double checked he was reading the right results. Yup! So he said that we should see him again around his first birthday and we would have a baseline blood panel done and then we would follow up every year unless symptoms arise. I was on cloud 9! If babies were allowed to drink alocohol we would have shared a bottle of champagne at that point!
This brings me to today. Septemeber 6th, 2012. Evan is 7 months old, happy, chubby and perfectly happy. I'm weaning slowly off the happy pills and I can think about CF without freaking out. I can go onto the internet where I found CysticLife.org which is a happy supportive group of CF moms, dads, patients, friends, siblings and others related to CF in some way. We may not have a diagnosis of CF but I now have a cause in my life. Nothing has ever affected me in such a dramatic way. I'm finding myself wanting to do more for the CF community and give to them in case my baby ever needs to take. In case I ever need to take from the great support that is given. They are so close to a cure of this horrid disease but until then the outlook for those affected by it is looking better and better each day because of people who work to support the cause. Michael and I will be starting a Great Strides team come the winter to raise money for CF research. We remain hopeful and I don't spend all day every day worrying. I know when he gets sick with a cold/cough I will freak out more but I'll take it one day at a time and just keep praying to God. To quote a wonderful friend of mine, "Jesus is tops!"
In my last post I mentioned that we would have something else to focus on other than the possibility of CF. I also mentioned that my older son had a condition at 4 weeks old called Pyloric Stenosis. I then mentioned my new baby puked on the doctors table as she told me that it would be almost improbable that I would have two children to have Pyloric Stenosis. Well guess what? After a lot more puking, we were told that Evan probably had Acid Reflux. He was put on Zantac. Yippee. But something didn't sit right with me. I knew these symptoms. It was almost exactly what Connor had gone through in the first month of life. I kept pushing the doctor in that week to give me a script to give him an ultrasound just to rule it out. I cried so much in that office that I'm sure I quickly became the crazy mom they talk about over lunch break. Finally after the third visit in a week she gave me a script to get an ultrasound at CHOP. That was a Monday. Wednesday we had our ultrasound and low an behold they found he had Pyloric Stenosis and admitted us through the ER. Long story (very long) short, he had his surgery and was home and in his bed by Sunday night. This surgery was sadly the least of our problems and worries at that time. Now we had two weeks until the sweat test. I tried to not be consumed with worry and fear and tried to stay positive hoping that Evan would only be a carrier of this CF gene. I mean, this stuff doesn't happen to me, right?
February 27th, 2012 - Sweat Test Day.
I had to go by myself. Don't ever do that. Take a stranger off the street if you have to. Children's Hopsital of Philadelphia is a huge looming place which we had plenty of experience with but when you're there for a test that could determine whether or not your 4 week old baby has a life threatenting disease you need support. Take someone. I'm pretty sure I tried to play it cool like this was NBD and I was so sure we'd get a negative result. The Sweat Test is the gold standard in diagnosing Cystic Fibrosis. It's an archaic test at that. It involves this crazy looking black box machine with dials and meters on it that looks straight out of 1950's medicine. The lady giving the test assured me they do many of these a day and they are used for so many things like asthma, for example. Only we weren't there for asthma. We were there for Cystic Fibrosis. Cystic Fibrosis? Really? Is this really my life now? I kept waiting to wake up from the bad dream I was having. Only I never did.
February 28th - Borderline Day.
All day we waited for the pediatrician to call with the results. By 4pm we hadn't heard anything so I called them myself. The nurse said they hadn't gotten anything back but she would have the Dr. call CHOP to find out. Michael left for hte studio at 5:30pm. No sooner did he pull out of the driveway did the Dr. call back. Now for an infant under 6 months of age a normal (negative) result is anywhere from 1-29. Borderline (maybe CF , maybe not) is from 30-59 and a Positive result is 60 and above. Guess what Evan's result was? 30. Well techinally 28 on one arm and 31 on the other so it averages to 30. Uhhg. Really? Again, bad dream. waking up. When is that happening??? I can't even go into details about the fear and frustration I was experiencing. I wasn't even this scared when both the boys were in surgery. I don't want to relive the pain again. The next day I had to call the CHOP CF clinic and speak to a CF Nurse Practitioner who said from what it sounded like we could hold high hope that Evan was still only a carrier but that since he had a borderline test we would need to meet with a Pulmonologist and have a repeat sweat test and probably further genetic testing. Fast forward one week.
March 5th, 2012 - Meet Dr. Kreindler, Repeat Sweat Test, Genetic testing
We go in and have another sweat test which according to the doctor he mistakenly ordered since he didn't realize we had the first test at CHOP. The result was exaclty the same. We really liked Evan's doctor almost immediatly. He was personable with us, had no problems talking all cutsey to our baby and generally he made us feel comfortable. He also told me that I wouldn't outlive my baby and that he could tell that even if CF was going to be our journey it woudn't be classic CF or very severe. Next step was going to be a blood draw for a full genetic sequencing of Evan's CF gene to see if he had a second known disease causing mutation which would lead to a diagnosis. The results from that would take 4-6 weeks. O.M.G. How would I even survive the wait let alone the possible outcome? Again, while I tried to not let the fear overcome my whole existence, I held onto the whole "this shit doesn't happen to me" mentality albeit that was slowly going out the window. Thankfully my sister was coming into town to visit and I had Connor's second birthday party to prepare for. Poor Connor. He must have been so confused during all of this. I tried my best not to cry in front of him but I was seriously crying all the time. It broke my heart when he laid his head on my lap one afternoon and said "Mommy sad." I knew I had to try to lock it up better for him. So I let myself cry in bed and in my car and I went on a nice little dose of Zoloft to help me through.
March 26th - Call from CHOP w/ genetic results.
So I'm just going about my day. Mid afternoon the phone rings. The caller ID tells me it's CHOP calling. For a split second I don't want to answer but I man up and pick up the phone. It's the doctor and immediatly I can tell he wasn't calling with great news. He asked how Evan was and I told him he was going great. I should mention that to this point Evan had absolutly NO symptoms of CF. So they found the DF508 as we knew, they also found 3 other mutations that are known to be benign. And there is this other mutation that they know of, R1162L, but it is still under review and currently has a status of unknown clinical significance. That means it may casue disease if combined with a known disease causing mutation or it may not. Wait and see. Wait and see. I can't exactly remember what the doctor was telling me on the phone but it had something to do with a CF Related Metabolic Disorder, genetic ethics (in regard to testing Connor) and he wanted to see us again. He made us an appointment for the 30th. I picked up Evan and cried and cried.
March 30th - Second meeting w/ Dr. Kriendler to discuss genetics results
This meeting went well. The doctor told us that we were were going ot love in the grey zone for the next few months until Evan was 6 months old. At that age they now order repeat swaet tests for borderline babies becasue hte threshhold for normal drops. If Evan stayed at 30 he would have a normal result. He said he had a good feeling that Evan was going to be fine and live a very normal life and that if he was going to have anything very severe he would be showing some sort of sign, most likely digestively or through a very high sweat test. Lung problems take a while to show up and to date he sounded wonderful and his chest xray showed nothing wrong.
March 31st - July 26th - I Break Down Internally and Hide it from the World. (This is Not a Good Thing to do people).
During this whole time I couldn't wait to go back to work. I envisioned it as a break. I went back on April 11th and people couldn't believe how excited I was! Only a few people knew what was going on with Evan but even then I tried to play it cool. But as soon as I would get into my car after work I would break down. The thoughts flooded my mind. Thoughts of the worst case CF, thoughts of all the treatments we would have to do, toughts of how this would effect and change our family life, thoughts about how this wasn't supposed to be the way our story played out. The thoughts that made me most upset was that I viewed this as my fault. Michael and I did this to our baby and he would be the one to have to suffer. His whole life would be affected by this little recessive gene that we passed on to him unbeknownst to us. So I did what any normal person would do and went on the internet. Oh my god the internet SUUUUCKS! I found little hope there at that time. Some people were supportive but others were so angry and negative that it made me even more scared and upset. People told me we should be doing preventive treatments on him and that if he has two mutations he has CF and blah blah blah. I sunk fiurther into my hole. I didn't tell Michael that I went onto the CF forums online because I knew he'd be concerned since doctor told us to NOT do that. There was one woman from Chicago who contacted me and said that she had almost an identical story to our. The only difference is that they never found a second mutation in her baby and that at that point her baby was old enough for the 6 month sweat test and it had dropped down from 30 to 15. I could only hope and pray our story was going to happen that way but by that point I was so low that I was trying to accept his fate. I decided I had to go to the doctor for a higher dose of the happy pills which I secretly hid from Michael for a while. I also considered seeing a shrink but time didn't allow for that. The slightly higher dose combined with staying off the internet forums helped greatly. I made it to the big day in mostly one piece. 6 month sweat thest!
July 27th - 6 Month Sweat Test.
I made Michael go into the lab for the actual test. I could't do it again. I was a nervous wreck that morning anyway and I was positive I would break down while Evan cried. It's the longest 10 minutes of your life. We followed up with Dr. Kreindler again who after reviewing Evan's chart and asking us some general questions again said to us "This is not CF". OMG.. Best words ever! He said at best he's going to have to diagnose him with CF Related Metabolic Disorder which essentially means nothing but htat he has two mutations but they can't confirm anything one way or the other. It'll mean when he goes to have children there will need to be talk about genetic testing of his partner. Oh and he can feel Evan's vas deferens which is a good sign! 95% of men with CF are missing the vas deferens and cannot reproduce in the normal manner. It also means that he sould possibly be more of a candidate for pancreatitis as an adult and some mild CF symptoms that we would treat as needed. He said he would call that afternoon with the Sweat results. Honestly I was expecting them to stay the same given our track record with testing the last 6 months so I wasn't too concerned. Of course Michael was not htere once again when the call came in but this time it was OK. Evan's sweat result was 16 and 18!!! Totally normal and NICE AND LOW!!! I was in such disbelief that the doctor double checked he was reading the right results. Yup! So he said that we should see him again around his first birthday and we would have a baseline blood panel done and then we would follow up every year unless symptoms arise. I was on cloud 9! If babies were allowed to drink alocohol we would have shared a bottle of champagne at that point!
This brings me to today. Septemeber 6th, 2012. Evan is 7 months old, happy, chubby and perfectly happy. I'm weaning slowly off the happy pills and I can think about CF without freaking out. I can go onto the internet where I found CysticLife.org which is a happy supportive group of CF moms, dads, patients, friends, siblings and others related to CF in some way. We may not have a diagnosis of CF but I now have a cause in my life. Nothing has ever affected me in such a dramatic way. I'm finding myself wanting to do more for the CF community and give to them in case my baby ever needs to take. In case I ever need to take from the great support that is given. They are so close to a cure of this horrid disease but until then the outlook for those affected by it is looking better and better each day because of people who work to support the cause. Michael and I will be starting a Great Strides team come the winter to raise money for CF research. We remain hopeful and I don't spend all day every day worrying. I know when he gets sick with a cold/cough I will freak out more but I'll take it one day at a time and just keep praying to God. To quote a wonderful friend of mine, "Jesus is tops!"
Saturday, May 19, 2012
6 Days
Evan was born on January 26th, 2012 which was 1 week past my due date. I kept saying that whole week that this kid was going to be my problem child. Not very funny looking back on it since it turned out to be true in a way. I was induced that Thursday morning at 7am. By 11am I had a comfortable epidural. I started pushing around 3:30 and by 4:26 pm Evan was here. We were so happy and he was a beautiful baby despite the crazy facial bruising the poor child had. I spent two nights in the hospital and we went home a happy little family on Saturday morning. I was so excited because this time around I had experience under my belt and I knew that the nights would be hard but I had tricks up my sleeve. What could possibly go wrong? The biggest worry I had was that he would somehow have the same condition, Pyloric Stenosis, that Connor had in the first month of life. It's basically a thickening of the pyloric muscle which causes the baby to throw up all his food and basically starve to death. Sounds severe but is easily fixed by surgery. At Evan's first appointment on day 5 of life the pediatirican assured us that it was nearly impossible that we would have two babies who had this condition. I left feeling good even though he puked right on the exam table. I felt really good that first week. Micheal got up with the baby all night every night so I could rest and heal from delivery. Wednesday was day 6. Day 6 was the last day that I thought life was perfect and that nothing bad could ever happen to us. Day 6 was the day that a man called us to tell us that our beautiful, sweet little baby could possibly have a life threatening lung disease.
My mom had Connor for the day. I was home with Evan and my best friend came over to visit and see the baby for the first time. Evan slept the entire time she was here. So when she left I went upstairs to grab some laundry and I heard the phone ring and I let the machine get it. I heard it was the pediatrician who saw Evan in the hospital and he asked me to call him back. I knew that was not something that happened with Connor so I was slightly concerned but didn't think too much of it as I dialed the number back. He answered right away. What he told me next changed my life forever. I will never be the same person ever again. He asked how Evan was and I told him he was perfect. He said that was great but that he had some test results from the Newborn screening that they do to test for certain incurable genetic diseases. I knew that wasn't good because they didn't call when I had Connor. It turns out that Evan had an inconclusive result for Cystic Fibrosis. Apparently he had a slightly elevated IRT level which causes a red flag. When the IRT level is above 90 (his was 117) they automatically do a genetic screen for mutations on the CF gene. It came up that they found one mutation of DeltaF508. I would learn later that this is the most common and most severe mutation in the CF population. I didn't know what to say to this doctor and I could tell he really didn't know what to say back to me although he tried to reassure me that most likely Evan was only a carrier and did his best to quickly explain that a person needs two mutations in order to have the disease and that the State would require us to have further testing done to confirm if he did in fact have the disease. I couldn't speak. Michael had walked in the door from work as I was on the phone and saw on the note pad that I had written the words Cystic Fibrosis. He had a look of concern. I hung up the phone and crumbled to the floor in hysterics.
I didn't know how to process the information. It's such a complex disease and for as much is known about it there are no hard and fast rules about it which I would come to learn. After I explained to Michael as best I could what the doctor told me he immediatly went to the internet which is where we would spend much of the next few days and weeks. We learned that Evan would probably need to have a Sweat Test done to test the salt content in his sweat. People with CF have a very high concentration of salt because of their bodies inability to process the proteins correctly. We learned that the DF508 is the most common mutation and to have 2 of them would be the worst case scenario. We at least did not have that. He also does not have any of the more severe mutations. We learned that no two patients have the same disease even if they have the same mutations. We learned that the average life span of a person with CF is 35 and it used to be 15. 35? That is how old Michael is. This is when I got really nervous. I didn't know how I could live my life knowing that my baby may not outlive me. I wanted to throw up. I wanted to cry out why me? I just wanted to cry. And I did. For days to come I would cry the majority of the day. It's all I could think about. It consumed my every thought. I'm crying right now thinking of those days just a few short months ago. I don't wish it on my worst enemy.
On Day 7 I called our pediatricians office to see what they had to tell me. They said that they needed to contact the State to see what we had to do next. I somehow ended up in their office on Day 8. I can't remember if Evan was being seen for anything in particular but I ended up seeing Dr. Brogan in the hallway and he was kind enough to take a few minutes out of his day to talk to me about CF and our family history and suggested we get the newborn screen done again and wrote us a script for a sweat test. I went home and found out that we could just go to the hospital and get it redone at anytime. I also called to schedule the sweat test. I found out we had to wait a whole month to get the test done because newborns don't sweat enough right away! The shortest month of the year was about to be come the longest month of my life. But little did I know that we would have something else happen that would take our minds off of CF for a while.
My mom had Connor for the day. I was home with Evan and my best friend came over to visit and see the baby for the first time. Evan slept the entire time she was here. So when she left I went upstairs to grab some laundry and I heard the phone ring and I let the machine get it. I heard it was the pediatrician who saw Evan in the hospital and he asked me to call him back. I knew that was not something that happened with Connor so I was slightly concerned but didn't think too much of it as I dialed the number back. He answered right away. What he told me next changed my life forever. I will never be the same person ever again. He asked how Evan was and I told him he was perfect. He said that was great but that he had some test results from the Newborn screening that they do to test for certain incurable genetic diseases. I knew that wasn't good because they didn't call when I had Connor. It turns out that Evan had an inconclusive result for Cystic Fibrosis. Apparently he had a slightly elevated IRT level which causes a red flag. When the IRT level is above 90 (his was 117) they automatically do a genetic screen for mutations on the CF gene. It came up that they found one mutation of DeltaF508. I would learn later that this is the most common and most severe mutation in the CF population. I didn't know what to say to this doctor and I could tell he really didn't know what to say back to me although he tried to reassure me that most likely Evan was only a carrier and did his best to quickly explain that a person needs two mutations in order to have the disease and that the State would require us to have further testing done to confirm if he did in fact have the disease. I couldn't speak. Michael had walked in the door from work as I was on the phone and saw on the note pad that I had written the words Cystic Fibrosis. He had a look of concern. I hung up the phone and crumbled to the floor in hysterics.
I didn't know how to process the information. It's such a complex disease and for as much is known about it there are no hard and fast rules about it which I would come to learn. After I explained to Michael as best I could what the doctor told me he immediatly went to the internet which is where we would spend much of the next few days and weeks. We learned that Evan would probably need to have a Sweat Test done to test the salt content in his sweat. People with CF have a very high concentration of salt because of their bodies inability to process the proteins correctly. We learned that the DF508 is the most common mutation and to have 2 of them would be the worst case scenario. We at least did not have that. He also does not have any of the more severe mutations. We learned that no two patients have the same disease even if they have the same mutations. We learned that the average life span of a person with CF is 35 and it used to be 15. 35? That is how old Michael is. This is when I got really nervous. I didn't know how I could live my life knowing that my baby may not outlive me. I wanted to throw up. I wanted to cry out why me? I just wanted to cry. And I did. For days to come I would cry the majority of the day. It's all I could think about. It consumed my every thought. I'm crying right now thinking of those days just a few short months ago. I don't wish it on my worst enemy.
On Day 7 I called our pediatricians office to see what they had to tell me. They said that they needed to contact the State to see what we had to do next. I somehow ended up in their office on Day 8. I can't remember if Evan was being seen for anything in particular but I ended up seeing Dr. Brogan in the hallway and he was kind enough to take a few minutes out of his day to talk to me about CF and our family history and suggested we get the newborn screen done again and wrote us a script for a sweat test. I went home and found out that we could just go to the hospital and get it redone at anytime. I also called to schedule the sweat test. I found out we had to wait a whole month to get the test done because newborns don't sweat enough right away! The shortest month of the year was about to be come the longest month of my life. But little did I know that we would have something else happen that would take our minds off of CF for a while.
Why I Created a Blog...Who Do I Think I Am???
I don't fancy myself a terribly interesting person. I don't have a significant talent, I don't have an important career, I don't travel a whole lot. So what could I possibly blog about? Basically I decided to do this because it's less time consuming than therapy. I hope that this becomes my therapy for what has become my new existence. I'll get to that. I'm not expecting anyone to read this and I'm really just writing this for my own benefit; for my own release. But maybe one day someone who has to experience what my husband and I have to go through mentally and emotionally since one fateful afternoon in February might find this blog and see that they are not alone because honestly, I feel like we are. I will write this as if I"m writing to an audience because, well, that just makes more sense. So, what might you ask is the big problem? Read on....
I have a beautiful family. A loving husband who works extremely hard and is terribly motivated. He has gotten a late start career wise in life but is really trying hard to make something of himself even at the ripe old age of 35. I know I don't give him enough respect for everything he does for us...it's something I am currently trying to work o and focus on. We have two gorgeous boys. Connor was born March 2010 and is just amazing. At the age of two he is a spitfire and incredibly smart and outgoing just like his daddy. At the same time he is a very nice boy and so polite and loving just like his mommy. He's my first born and will always hold a special place in my heart. Evan was born this past January and is the smiliest, sweetest baby I have ever come across. He is my good sleeper. I'm sure he is going to be as smart as a whip and just as wonderful as his brother. He is my second born and my last baby. He holds the other special place in my heart. He is my special baby. He is the reason I write this blog.
I have a beautiful family. A loving husband who works extremely hard and is terribly motivated. He has gotten a late start career wise in life but is really trying hard to make something of himself even at the ripe old age of 35. I know I don't give him enough respect for everything he does for us...it's something I am currently trying to work o and focus on. We have two gorgeous boys. Connor was born March 2010 and is just amazing. At the age of two he is a spitfire and incredibly smart and outgoing just like his daddy. At the same time he is a very nice boy and so polite and loving just like his mommy. He's my first born and will always hold a special place in my heart. Evan was born this past January and is the smiliest, sweetest baby I have ever come across. He is my good sleeper. I'm sure he is going to be as smart as a whip and just as wonderful as his brother. He is my second born and my last baby. He holds the other special place in my heart. He is my special baby. He is the reason I write this blog.
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