Our diagnosis story

31 Day of May the Cystic Fiborsis Way 2013

I follow a lot of CF pages on Facebook and one of them is  31 Days of May the Cystic Fibrosis Way 2013. This is a way for us to share our stories and hear from other CF families and to educate everyone on this disease. I have decided this is also a good way to get me in the habit of blogging more (for things other than product reviews). So here goes......

Our diagnosis story:

Zachery was born on New Years Eve of 2000. Our pregnancy had been normal, his delivery was a breeze. He was a 8 pound 5 ounce bouncing bundle of joy. He had no health concerns that we could see.

When Zach was 3 weeks old he got sick. His breathing was abnormal, he was coughing, wheezing, you could see his chest muscles retracting every time he took a breath. We rushed him into the ER. We sat in the ER waiting room for hours. They did his vitals, his oxygen level was 78%. We still sat and waited. His lips starting turning purple so I raised a fit. Still we sat. 4 hours later we got taken back to the room and they swabbed his nose to test for RSV (respiratory synactil virus)and it came back positive. We were sent home with the instruction of "just make sure he doesn't stop breathing like that baby (pointing to the next curtain) did". SERIOUSLY! It was terrifying. They did order him nebulizer treatments at home (which took a day to get set up). Little did we know this was to be only the beginning of our battle with that hospital.

Zach never really got over the RSV. He remained sick for months. We were in and out of the ER at least twice a week if not more. They wouldn't do anything for us. Just kept telling us it was allergies.

At 6 months of age for some unknown reason I asked his pediatrician to have him tested for Cystic Fibrosis. We didn't have anyone in our family who had the disease and I just recalled seeing it on a movie when I was a teenager (Alex: Life of a child), but somehow I knew he needed to be tested for it. We were told "No, you don't have to worry about that because no one in your family has it" (yes that is what I was told).

He remained a sickly baby. Not so many ER visits, but constant respiratory issues. Not only that, but the kids poop smelled like rotten garbage and he looked like a little Ethiopian baby (distended belly and all). Every doctor we took him to said it was allergies. Allergic to dogs. Allergic to milk. Too much juice in his diet. They said he had asthma, and that he would eventually grow out of it (hopefully). In the meantime, we got rid of our dog, tried all different kinds of formula, only allowed a small amount of juice a day. He had failure to thrive, so we put him on pediasure.

Again at 1 year of age I asked for a CF test. We had moved and switched pediatricians so I thought maybe someone would listen to us. Again we were told no, there is no family history so no need to worry.

Respiratory infections continued. Failure to thrive continued. No one was doing anything to find out exactly why our son was so sick. We tried everything the doctors told us to, but nothing made a difference. By this time Zach had become a miserable toddler. I mean he was a happy kid, very active, but once those stomach cramps started all he would do is cry and cry and cry. He was so sick, we just didn't know what to do with him, so he pretty much go whatever he wanted just to make him happy (big mistake now that he is 12 and still wants this treatment lol).

His little sister was born in October of 2002 and she was perfectly healthy and happy. Zach was so sick when I had her that he couldn't come to the hospital to see us (and I was in for a week). All he did was cry and there was no calming him.

On December 23, 2002, a day I will never forget. I was in the shower when I heard my husband screaming for me. I rush out to find him changing Zach's diaper with a look of horror on his face. Something was protruding from Zach's anus. So of course we load them up and rush off to the ER, terrified. I had never seen anything like it. We didn't wait long to see a doctor (I was very vocal as to the emergency so I think they just wanted us out of there). The first thing this wonderful ER doc said to us when he walked into the room was "he has cystic fibrosis, right?"!!!! I about cried, but instead I gave a little laugh and said "I don't know you tell us. We have asked for testing for the past 2 years and have been refused" FINALLY SOMEONE HAD THE SAME THOUGHT AS I DID!! The ER doctor told me not to worry, he would be putting him in a referral to be tested ASAP.

On February 19, 2003 Zach went in and had his sweat test done. After the test his father took him home and I went to work. It wasn't even 4 hours later that I got a call from his dad telling me the hospital had called. Zach tested positive for CF. I was not surprised, as I had known all along that this was what was wrong with my son, but I still cried.

I didn't get angry right away. It took a little while to actually sink in that this was happening. I immediately started researching. I collected as much information on the disease as I could (I am one of those people that has to know all that there is too know, good and bad).

Things have changed so much since Zach was born. Now they do prenatal testing to see if mom is a carrier, and they have newborn screening. More kids get diagnosed at birth (or even before) now than they did when I had Zach. We relied on our doctors to do what was best for our kids and many with CF were misdiagnosed because the disease was rare and they didn't think a baby could have CF without a family history. Now we know that is not true. Now we know that just because we don't know of a family member over 50 with CF that doesn't mean there isn't one. This disease was only given a name back in the 1950's and even then it was hard to make a diagnosis as many children died very young of what was considered pneumonia or respiratory distress.

But even with all these advances in diagnosis, we are still in the battle for a cure. We are so close. But, unfortunately, the cures that are in the works are gene specific (and there are 1,000's of gene mutations that can combine to cause CF), which means that 1 cure isn't enough....not yet anyway.