Zach's 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.

Puff, Puff, Shake, Shake...this is what it takes to clear lungs

Now we come to the wonderful world of treatments. We spend about an hour of our day on treatments right now. I know that doesn't seem like much, but when you are tied down to machines shaking you up and blowing smoke in your face it seems like forever. And when Zach gets sick, treatment times go up.

Most kids do some sort of chest therapy, either with a vest, a pep, acapella, or via hands on chest percussion.

This is what the vest looks like. It is attached to an air compressor. When this machine (there are other types) is turned on you have to set the frequency to which it vibrates (slow to fast), the amount of pressure it vibrates with (lighter or harder) and how long it goes for (we do 20 minutes at a sitting). It is recommended that you start at a lower frequency and pressure and stop every 5 minutes to do huff coughs (will explain those later) and work your way up the recommended frequency and pressure.

Zach rocking his camo vest

As you can guess, it is not always easy to haul these things around. Our machine weighs about 20 pounds, it's heavy and bulky and a pain in the butt to carry on trip. So we opt for a simpler method of chest therapy when we travel or when Zach goes away to camp in the summer.

This little guy here is called an Acapella. It is small and light-weight and fairly easy to use. This is what Zach takes when he goes away. They breathe through this device and it causes vibration on the inside of the lungs. Zach breathes into this device for 10 minutes. It's still not any fun for him, but it is easier for him to deal with because he is not tied to one spot.



On top of the fun of the chest therapy we also spend a lot of time doing inhaled treatment via the nebulizer. The nebs take just about as much time as doing the vest. Most of the time you can do the nebulize treatment while doing the vest, which cuts down on treatment time. There are a number of different medications they take through nebulizers. Zach is currently on Pulmozyme and albuterol.  Pulmozyme is a very expensive CF medication that helps break up the mucous in the lungs. This is one of our most important medications. In the past we also had to take antibiotics (to fight off pseudomonas) via neb and a hypertonic saline solution. Zach hated the hypertonic saline nebulizer. He said it burned his lungs. I have heard this from a lot of people. We found a great way to get hypertonic treatments with out actually doing them....SURFING! Being in the ocean is like getting a natural saline treatment, and its fun! So now we use the ocean as a treatment too.

While treatment times are no fun, they are an important part of a CFer's life. Without the daily treatment regime the junk in their lungs would just sit there and breed bacteria. It would cause infection after infection after infection.  It is a daily battle in our house to get Zach to do these necessary treatments. He absolutely hates them. They take too much time, they hurt, they're boring.....and on and on. He has been lucky so far that he has only had to battle psuedomona's infections a couple times, but he does have a severe MRSA colonization in his lungs. We battle flares ups on a regular basis. If he would just learn to do the treatments he needs to do, we would most likely have less. It helps that he is in the ocean on a regular basis, but it's not enough to just break the junk up, it needs to be cleared out and that is what he is missing.

Our at home CF pharmacy

Medication therapy varies greatly among CF patients. Some CFer's take a ton of medications, while others takes few. Our household pharmacies contain a wide combination of antibiotics, allergy medications, vitamins, nasal sprays, pancreatic enzymes; among many other things. The medications to keep our family members healthy cost us a small fortune. One of Zach's medications cost $1,100 a month! At one point we figure out the cost of his monthly medications. I must say we floored when we reached over $8,000 a month. And these are only preventative medications. There is no cure, there is nothing out there, yet, that is going to guarantee that he doesn't get sick, that he doesn't culture a life-threatening bacteria (like Pseudomonas) that will hospitalize him for weeks. All these med's do is keep his symptoms at a minimum and hopefully keep him as healthy as possible.

The other thing about medications is that these people have to watch what kind of over-the-counter medications they take. If your kid catches a cold, gets the sniffles, is coughing up a storm you reach for the cough medicine, right?  We can't. Our CF patients can't take medication that has cough suppressants in them. We need our CFer's to cough, they have to cough up that crap that is in their lungs or it leads to massive infections.

In the 10 years since Zach's diagnosis he has been on enormous amount of medications. These have changed over the years, as he has grown, or medications have developed and changed. In general, he takes about 25 pills a day (when he is compliant). Here is a look at what he has been on through the years:

Currently taking:

Creon: this is a pancreatic enzyme. He has to take these to digest his food. He takes 15+ of these pills a day!

Ventolin: rescue inhaler

Singular: cuts down on allergy symptoms

Zyrtec:

Vitamin E

Vitamin D

Aquadek: CF specific multi-vitamin

Vitamin K

Albuterol Nebulized

Pulmozyme Nebulized (will go into these more in treatments)

Prevacid

Taken in the past:

Doxycycline: to help keep MRSA under control

Advair

Xopenex



Hyper-tonic saline solution nebulized

Periactin: to help gain weight

Inhaled Tobramycin: to fight off pseudomonas infection

Various IV antibiotics

(10 day IV antibiotic therapy at home)



There are so many times that I have to laugh when someone complains about there kids being on an antibiotic for an ear infection, or needing Benadryl for seasonal allergies. And I don't do this meanly. It just makes me giggle. And when asked why I just say "you should see our medicine cabinet....or more accurately our home pharmacy".

You'll notice that a lot of Zach's meds are meds you hear about every day. Multiviatmins, allergy meds, asthma meds. Like I said none of these are a cure for CF. All of these help keep Zach's lungs as clear as possible, or help his digestion.

Our hope is that one day, and hopefully soon, Zach will be down to only a couple of medications. And that those medications will be a cure, or as close to one as we can get to keep him alive. There are medications in the works right now that "fix" the gene defect, that show great promise. Yes, this will be a pill they have to take everyday, but it's the best we have to look forward to for now.

The genetics of Cystic Fibrosis

By now you have read our diagnosis story, but you may be asking how we didn't know that having a child with CF would be a possiblilty for us. Well it's easy to not know when no on in your family, that you have ever heard of, has been diagnosed with the disease. Zach was the first, and is still the only, known person (young or old) in our family with CF.

That just goes to show how rare of a disease this is. I suppose there could be other older family members with CF who were just never diagnosed. People who have been living with various other conditions or who died from respiratory complications and it was never thought that they could have CF.  I bet if we look in our family history we will find stories of babies who died of malnourishement or what was thought to be pneumonia when in fact it was CF. Until the 1950's there wasn't a name for this disease so it was not diagnosed. And even once they discovered what it was most patients with CF didn't live to attend elementary school (we will get to more statistics on another post).

So how prevalent is the CF gene?

  

That's approximately 1 in every 31 Americans!

Looking at my family: I have 2 siblings. Together we have 7 kids. 

My dad had 5 siblings, counting me and my siblings that makes (roughly) 17 cousins (I may be missing 1 or 2). Now most of us have kids. Now your looking at 45 second cousins. A couple of those have had  kids...I think there are 3 3rd cousins (that I know of). So that makes a total of about 71 just on my dads side of the family! 

You add to that my mother's side of the family. She has 3 brothers. My uncles have fathered 7 kids (that I know of). Of those cousins I only 1 has had 2 kids.

Now we are up to a total of 80 family members (and that's not going back further than my parents) Is it really possible I am the only carrier in my family??? Statistically speaking there should be at least 1 more. Yet, my boy is the only one with the disease and my daughter is the only carrier we know of.

Then looking at my husbands family: He has 2 siblings. Those 2 have a total of 3 (biological) kids.

His father has a sister. She has two children. They now have 3 kids. (husbands family is a lot easier to keep track of LOL)

His mother has no biological siblings.

Just going back this far it makes sense that he is the only known carrier (statistically speaking)

Now to get to the insane part. I mean how likely is it for a woman from NY and a man from FL, both not knowing they carry the CF gene, to meet, fall in love, get married and have kids??? I'm sure if I was better at math I could come up with some crazy equation to figure it out, but lets just say it's not a likely as you would think. Pure luck I suppose you could say. It gets better.

Cf doesn't just affect the lungs

While most of the discussion about CF revolves around the lung issues our CFer's have that is not all the problems they can face. (I must add quickly that I am having a hard time not saying "CF kids" as that is what I deal with a CF kid, but I want to include all CFer's in my posts not just kids). CF is a whole body issue. It affects so many organs due to the underlying gene mutation that causes it. (which I just realized I think I missed posting about that whole thing so I am going to go into that later). Here are a few of the possible other conditions that can affect CFer's. (our experiences will be under the pics in purple)

Due to all the lung problems Zach had as an infant and toddler he already has slight clubbing in his fingers and toes. It isn't to the point where it is extremely obvious to the untrained eyes, but will get worse as he gets older and has more problems.

 We have been dealing with "acid reflux" all of Zach's life. To help deal with it he has been on prevacid for years. When he was a baby he would only eat really bland foods (oatmeal was his favorite) and as he's grown up he has become a very picky eater and is very hesitant to try new food for fear that it will bother him.

Ah....malabsorption...this is the best part of CF (NOT!!!) This was my second clue that something was just not right with my son. This is why so many CF babies deal with Failure to Thrive. Our kiddos pancreatic ducts are clogged full of mucus and can't secret the enzymes needed to digest their food....which also causes some very, VERY disgusting foul smelling poops. This is also why my little man looked like an Ethiopian baby when he was little(and that's what we jokingly called him)

This has been one of our biggest battles. Zach has had 2 sinus surgeries so far to have polyps removed and to clear our his sinus cavities (it's like a rotor-ruter they put in there to break up the hardened mucus)I think the kid has only been able to smell good for a total of 6 months or so of his life. It seems we are always dealing with blockages in there. He loves it when they clean him out because he can smell all the wonderful smells...and some bad ones he wishes he couldn't smell!

Those are the related problems we deal with at the moment. With each annual set of blood work and chest xrays we worry about finding any of the following.

We watch very closely for this. Zach battles a lot of respiratory infections as he has MRSA in his lungs, so once the coughing starts we are on the look out for hemoptysis.

This is one that I dread having to deal with. Even at 12 Zach knows he wants to be a father. And he will be able to be, it may just take more work.

Zachery's liver enzymes are monitored very closely because he has had funky test results in the past.

These are a few of the complications that can occur with CF. Because the lungs are so greatly affected it also can cause heart problems (like pulmonary hypertension). A good portion of CFer's have to have lung, heart and liver transplants. As you can see, health care for these people is a HUGE issue. But when you are blessed with a child like our Zach, each day you are given is a gift and you wouldn't trade it for all the healthy kids in the world.

**I apologize for how small the graphics are in this post. For some reason I can't get them to resize.

What is Cystic Fibrosis

Cystic fibrosis is a life-threatening genetic disease that causes mucus to build up and clog some of the organs in the body, particularly the lungs and pancreas. When mucus clogs the lungs, it can make breathing very difficult. The thick mucus also causes bacteria (or germs) to get stuck in the airways, which causes inflammation (or swelling) and infections that lead to lung damage.

Mucus also can block the digestive tract and pancreas. The mucus stops digestive enzymes from getting to the intestines. The body needs these enzymes to break down food, which provides important nutrients to help people grow and stay healthy. People with cystic fibrosis often need to replace these enzymes with medicine they take with their meals and snacks, which helps them digest food and get proper nutrition.

How does CF affect the lungs?

Normally, the healthy CF gene makes a protein — known as CFTR (Cystic Fibrosis conductance Transmembrane Regulator) — that is found in the cells that line various organs, like the lungs and the pancreas. This protein controls the movement of electrically charged particles, like chloride and sodium (components of salt) in and out of these cells.

When the protein is defective, as in cystic fibrosis, the salt balance in the body is disturbed. Because there is too little salt and water on the outside of the cells, the thin layer of mucus that helps keep the lungs free of germs becomes very thick and difficult to move. And because it is so hard to cough out, this mucus clogs the airways and leads to infections that damage the lungs

May is Cystic Fibrosis Awareness Month

This is my son, Zach. He is smart, caring, funny and lovable. He loves sports, no matter what type...football, baseball, karate. He plays the viola. He likes to make up songs. He loves spending time with his grandparents. And he likes to annoy his little sister (what brother doesn't). He is strong willed and oppionionated. He also deals with a life-threatening disease everyday of his life.

Zach has Cystic Fibrosis (CF). He was born with this disease. However, he wasn't diagnosed with it until he was 26 months old. We fought a very long and hard battle for the first 2 years of his life to get answers to why he was so sick all the time. It took a smart ER doc to finally get the test he needed done.

What is Cystic Fibrosis?

Cystic fibrosis is an inherited chronic disease that affects the lungs and digestive system of about 30,000 children and adults in the United States (70,000 worldwide). A defective gene and its protein product cause the body to produce unusually thick, sticky mucus that:

• clogs the lungs and leads to life-threatening lung infections; and
• obstructs the pancreas and stops natural enzymes from helping the body break down and absorb food.

Who gets CF?

Cystic fibrosis is a genetic disease. This means that people inherit it from their parents through genes (or DNA), which also determine a lot of other characteristics including height, hair color and eye color. Genes, found in the nucleus of all the body's cells, control cell function by serving as the blueprint for the production of proteins.

To have cystic fibrosis, a person must inherit two copies of the defective CF gene — one copy from each parent. If both parents are carriers of the CF gene (i.e., they each have one copy of the defective gene, but do not have the disease themselves), their child will have a 25% chance of inheriting both defective copies and having cystic fibrosis, a 50% chance of inheriting one defective copy and being a carrier, and a 25% chance of not having CF or carrying the gene.

What are the symptoms of CF?

People with CF can have a variety of symptoms, including:

• very salty-tasting skin;
• persistent coughing, at times with phlegm;
• frequent lung infections;
• wheezing or shortness of breath;
• poor growth/weight gain in spite of a good appetite; and
• frequent greasy, bulky stools or difficulty in bowel movements.

How is CF diagnosed?

Most people are diagnosed with CF at birth through newborn screening (this wasn't available when Zach was born), or before the age of 2. A doctor who sees the symptoms of CF will order a sweat test or a genetic test to confirm the diagnosis.
A sweat test is the most common test used to diagnose cystic fibrosis and is considered the diagnostic "gold standard." A small electrode is placed on the skin (usually on the arm) to stimulate the sweat glands. Sweat is then collected and the amount of chloride, a component of salt in the sweat, is measured. A high level of chloride means that the person has cystic fibrosis.

For children who are less than six months old:

• Chloride levels at or above 60 mmol/L (a measure of concentration) means the child has CF.
• Chloride levels between 30 and 59 mmol/L are considered borderline and need to be examined on a case-by-case basis.
• Chloride levels below 30 mmol/L are considered negative for CF.

For people over the age of six months:

• Chloride levels at or above 60 mmol/L means the person has CF.
• Chloride levels between 40 and 59 mmol/L are borderline.
• Chloride levels below 40 mmol/L are considered negative for CF

These are just a few important things to know about Cystic Fibrosis. Throughout the month I will be posting more information on the disease and ways to help find a cure. In the meantime, if you would like to learn more about CF go to www.cff.org . You will find lots of information on the disease, how to help, accredited centers for testing and care and much more.