He finally called back that night (amazing man even called me after office hours! I was impressed) saying that Jeremiah's infant screening test came back with a mutated gene for Cystic Fibrosis. He told me not to worry because to actually have CF you have to have two mutated genes. At the moment it looked like he was just a carrier for CF, which is pretty common. 1 out of 25 people are carriers for CF and 1 in 3,000 people are diagnosed with it. 90% chance was he didn't have it, but they needed to see him to be sure. So Friday morning we had an appointment at the Children's Hospital for a sweat test to measure his sodium chloride.
The sweat test was basically two electrode stimulators hooked up to Jeremiah's arms for five minutes (on each side) and 30 minutes bundle tight against Mom to provoke enough sweat to test. The first side he hated, but we figured he was probably hungry and this boy hates to be cold. As soon as the littlest draft hits his skin, all hell breaks loose. Bundle him up and he's right as rain. I blame it on my bad circulation and Jason's lack of fat. This kid is screwed...
After the sweat test we met with the genetics specialist to get a family background. There is absolutely no CF known to be present on either side so we figured that someone on whichever side has to be a carrier...somewhere... If the tests came back as negative Jason and I would have to get tested to see which one of us is the carrier. If we were both carriers, each of our children had a 50% chance of being carriers and a 25% chance of having CF. Also, our siblings would probably have to get tested as well. The inheritance lecture is a lengthy and a somewhat confusing one... I'll spare some of the details for now...
We had to wait an hour and a half to get the results back from the sweat test. We met with nurses and took Jeremiah's vitals, which to me seemed pointless because we were being told there was a 90% chance he didn't have it. All these vitals were just making my kid cry. I was counting down till we could leave. Finally the Doctor came in. The lady had the most soothing and sympathetic voice. You could tell she was just the nicest thing. Nothing was setting off warning bells to me. I was all smiles.
She sat down next to me and started explaining the numbers of the sodium chloride levels. Anything below 30 and he was fine. Anything above 60 and 99.9% chance he had it. Anything in between and they had to do more tests. She told me that my sweet little boys number was 108... 108......... 108.................. 108..............
Even now that I've had time to process everything, it still seems surreal. The number still catches in my throat every time I have to say it. I couldn't imagine that this perfect creature that I was holding had a life threatening, incurable disease.
Cystic Fibrosis is a genetically inherited condition that effects many organs in the body. Mostly the lungs. Everyone is born with mucus in their lungs, people with CF have a protein that basically thickens the mucus, making it hard to get rid of. Over time it will become worse. (I am trying to explain this the best way I know... I'm still learning everything :/. If something is incorrect I apologize... I didn't really have an idea of what CF was up until 2 weeks ago...) It also effects the digestive system. 90% of people with CF (or so I am told) are pancreatic insufficient, meaning they cannot absorb the nutrients in their food. They have to take enzymes to help with the absorption. Also, CF patients need excess salt. They are known to sweat at higher levels and lose larger amounts of sodium (hence, the sodium chloride test).
In the recent years, many breakthroughs have occurred. There are multiple anti-biotics and medicines to help break up the mucus making the disease easier to handle. Caught early enough and the results are even better for less hospital visits and longer duration of life. Many years back a person with CF usually didn't make it past teenage years. Now, the average age is 36. There are many cases where people are lasting long into their old age, with the numbers growing each year. The disease is livable, but still very serious...
With the new technology, Jeremiah's CF was able to be caught in the earliest stages, before any symptoms and mucus could build up. He has been put on enzymes which are fed to him with applesauce which is by far the weirdest things I have ever done; spoon feed applesauce to a newborn. It's salty applesauce too, since he needs 1/8 tsp of salt a day. He has been put on a nebulizer with albuterol twice a day, followed along with chest percussions (a little foam plunger that we have to lightly thump on his shoulders, back, chest and sides). The last thing he needs is a dropper of multi-vitamin. All for a newborn... Whew...
Everything right now in this stage is precautionary. He has no symptoms as of yet. In fact, this kid has some of the healthiest lungs I've ever heard... He takes his medications like a champ too. Before each feeding we have to give him his enzymes and he now knows how to eat off a spoon. He doesn't spit it out either. Not on purpose anyways. He loves his multi-vitamin. He smacks his lips with great force and swallows every drop. I think he looks for more...
Jason and I trade with the chest percussions and nebulizer treatment. I take morning shifts, Jason has before bed. Jeremiah just sits there with the mouth piece (looks like an oxygen mask) hovering above him with mist pouring into his airways. This is the hardest thing for me... Anything that is small and helpless dealing with a burden beyond their knowledge always makes my heart ache. This is nothing short of heartbreaking when I see him staring at me with his famous concerning look. And he just takes it. Doesn't cry. Doesn't whine.
My strong little man...
God has dealt us these cards for a reason. We were (and still are) praying for a miraculous healing so our baby boy can grow up without this burden over his head. We know God can heal him at anytime if it's his will. We also know that this might be where he wants us in life, in the CF community to be a light unto the people that might not be taking it as well. Or people in general that might not be handling their "deck of cards". I question where this is all leading to in life, but I'm NOT questioning that God knows what he's doing 100%, and he chose us for a reason. He has our best interest at heart. As our favorite verse that we have adopted says "'For I know the plans I have for you,' declares the Lord, 'plans to prosper you and not harm you, plans to give you hope and a future.'" --Jeremiah 29:11. I had heard this verse many times before, and I had in mind even before Jeremiah was born that we would put this verse over his crib as a spoken blessing upon him. Especially since it has his name. I had no idea that we would be depending on this verse so fervently.
Each day I get through by the prayers from our wonderful friends and family. I couldn't be functioning so calmly without them. God is teaching me so much through all of this. I honestly have never felt closer to him. I surprise myself with how well I am handling this tough transition. So much so that when I do have a bad day and I can't stop crying, I have to remind myself that it's Ok to feel those emotions. It doesn't mean I trust God any less. Jason has been great too. Not only does he have to learn how to be a Dad and handle a new baby, but a Dad with a new baby with a rare condition. Being a nanny and an aunt of three, I know my way around a baby. But even I find myself second guessing everything because I don't know what a child with CF is like. We are both in for a very educational experience. And we are taking it one day at a time.
There is so much hope out there with all the medical breakthroughs that there could be a cure in a few years, or a medicine that basically makes it invisible. Jason and I do not look at the numbers of average age of death. Heck, the rapture could happen tomorrow for all I know. If this is where I'm supposed to be, I'm going to take it for all it's worth and keep on smiling. I will not have the devil bring me down because of this hiccup. I want to look at it as a blessing. My child could've been diagnosed with something much worse than CF. (I mean come on, this kid has to be on a high-fat diet when he gets older... Milkshakes and cookies anyone? Don't feel sorry for MY kid...) I am happy that he is as healthy as he is. Praise the Lord!
Also, another praise, we had to get a pancreatic test to see if he was pancreatic sufficient or not. Anything above 100 says that it's normal. My boy's test came back as 237! They said they like to see it within the 300-400 range, but it's NORMAL! 10% of CF patients have properly working pancreas'. He's still on enzymes until his weight gain comes up (which probably won't happen too fast if you've ever seen his father...) and in a month they might do another test to be sure, but I am praising God all the same that we have that glimmer of hope in our horizons! He will never give us more than we can handle. He is an amazing Father.
Thank you for your prayers! We still need them so keep 'em coming! I'll be keeping you updated...
God Bless!
