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!"
