Life is not measured by the number of breaths we take, but by the moments that take our breath away.

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A Little Intro about Me ....

My name is Becki and I am 25 yo. I have a very rare disorder called Shwachman Diamond Syndrome or SDS. It only occurs in about 1 and 50,000 births. Origional they thought I had a similiar genetic disease called Cystic Fibrosis but in January 2004, they diagnosed me with SDS. Basically, I have the same damage within my body that a CF patient would have only I just got there a little differently. Lucky Me....

To describe myself in 4 words :

• Friendly : I will talk to anyone. My friends and family would get so mad at me b/c I would talk to strangers in the bathroom.
• Extremely Talkative : I am a real motor mouth
• Giving : I would rather give someone something, whether it be a gift or just the time of day, then recieve something for myself.
• Sensative : I have always been sensative and want to know people think highly of me. I get extremely upset when I know that someone is mad at me, or makes an unkind or thoughtless comment.

I went to nursing school and at our awards banquet I got the pleasure of having the "Verbal Diarrhea Award" b/c I asked so many questions.

I like to research new medical treatments and whatnot. At the age of 12 I would rather read the NewEngland journal of Medicine then Tenn Magazine.

In my heart I would have grown up to be a physician and worked with children with chronic lung disease. I guess that comes from living in the medical world all my life. But, I knew I could not stay well enough to amke it through a 4 year program so I chose nursing.

I have 3 goals for Transplant :

• Run a Mile : It doesn't matter if its on a treadmill or on a track. Along with this goal, I am stretching my goals to encompass different things, I want to join a good gym and take a step arobics class, Kickboxing and other classes I never had the air or energy to participate in. I also, want to have a whole wardrobe of workout gear.
• Swim in the 2006 Tranplant Games and Bring Home the Gold : It may not be the Olympics that everyone thinks of when they hear Olympics, but the feeling you get at the Transplant games when houndreds of participants march out onto the field who at one time were dying, is just unimaginable. To know that these people would not be here today if it was not for the gift of life is over whelming.I intend to train for this event by joining a masters swim program. I swam competitively most of my childhood and was at home in the water. I miss it terribly.
• Go back to school to become a Physician Assistant : I have wanted this for a very long time. I want to work with babies in the Neonatal ICU who have developed Bronchopulmonary Dysplasia b/c of their immature lungs and the damage technology had to do to just keep them alive. I want to do an extensive long term study on how their lungs develop and the long term problems associated with prematurity.I know I have to be very careful around patients with active infections so I want to choose a subspecialty that will keep me safe and healthy and most of all...happy.

These are my wishes and dreams. Of course I want the smaller stuff like singing in the church choir and going for walks on the beach with my husband without the hassel of a backpack filled with oxygen weighing me down.

Shwachman-Diamond Syndrome (SDS)  affects many organs in the body and the symptoms may vary from person to person.

Here is the "SCOOP" on Shwachman-Diamond Syndrome( SDS ): The bone marrow in kids with SDS ( this is the part of your body that produces the cells needed to fight off infection, make your blood clot, and carry oxygen ) usually does not produce enough infection fighting cells to fight of bacteria and viruses that enter the body.This can cause the person to battle recurrent infections such as ear infections,sinus infections, and frequent bronchitis and pneumonias. These infections are difficult to treat and take much longer to clear up.These repeated infections can lead to damage as is the case in my lungs. Even if the person produces enough "fighter" cells they sometimes can be wired wrong and get lost trying to find  the source of infecton. A simple cold can turn disasterous if not treated correctly and aggressively.

SDS also causes a defect in the pancreas that causes the person to have trouble digesting what they eat. This leads to bloating, gas, sometimes explosive oily diarrhea, and severe cramping. SDS patients have to take special pills to take place of the missing enzymes needed to digest food. Some kids only need to take one or two before meals and snacks while others struggle and need much more.

Early,before the diagnosis is made, many patient's symptoms lead medical providers to believe that they have the genetic disorder Cystic Fibrosis.This is because the digestive problems with SDS are exactly the same problems that patients with cystic fibrosis have.Some SDS kids will be thin and very small for their age. Sometimes an SDS patient though can regain enough use of their pancreas over time that they may be able to eat without having to take these pills before their meals. While others like myself take handfuls with meals and still have problems digesting their meals.

SDS kids and adults can have a variety of bone and joint problems and usually have short stature. Other, secondary, features may affect some but not all people with SDS.

People with SDS are at risk for serious, sometimes fatal, complications such as severe infections, acute myelogenous leukemia and bone marrow failure.

This is why some kids with SDS need Bone Marrow Transplants and or Stem Cell Transplants.

The Early Years . . .

As a baby I did not have too many serious issues. I was slightly small for my age and was breast fed for the first several months. My mother always told me how much I would eat and eat and eat. Looking back at my records, I now know I was on the low end of the grow chart but the doctors did not seem concerned.

After I started on the bottle you can see in the baby pictures that my weight seemed to stay the same or increased very very slowly. I was always hungry and kept my parents up nights crying. The nights usually ended in my parents getting in the car and driving until I finally fell asleep.

The doctors chalked this up to colic and allergies. I was put on Soy formula at that time to see if that helped.

I began getting frequent chest infections. One right after another. I developed croup several times and pneumonia. The doctors diagnosed me with bronchial asthma and put me on liquid albuterol.

On nights when I barked a croupy cough, mom would sit in the steamy bathroom until I went to sleep. I was about 8 months old.

The doctor said I was fine so mom thought it was normal for babies to have pneumonia. I think back and wonder what my pediatrician was thinking ! ! !

I continued to have a croupy cough and congestion. To this day, that cough is still my ever present companion.

I was an active toddler, running around the house and yard for hours. The doctor thought I was just buiilt small and was thin from being so active.

Mom thought my cough was genetic,she was right on the money with that, only she thought it was because her mom always had a cough. My grandmother smokes a pack a day. So the comparison wasn't exactly a good one.

When I was 2 my mother had my brother Scott. He was a large baby who loved to eat. Only, at 2 months of age he weight over 20 lbs. He weighed the same amount I did and I was 2 years older ! ! !

Still the doctor did nothing.. . . .

My mom,after not being pleased with the pediatricians, switched to a Family Practice doctor. We would see this doctor off and on for the next 16 years.

I remember going to the dentist for the first time when I was 2yo. Most people cannot remember any memories before the age of 5 but I remember this incident because the dentist had named the chairs and would let the child pick whichj ne they wanted to sit in. I chose the Bubble Gum Chair because it was Purple. The Dentist was shocked and wrote a note that is actually in my baby book stating I had14 cavities ! ! ! This really didn't make sense because I wasn't still drinking from a bottle and mom grew up in a diabetic housebold so she was not big on letting us drink anything with a lot of sugar in it.

I remember my first recollection of the horrible stomach aches I would get after eating. I remember being doubled over and apperantly had vomited. My mother decided to take me to the emergancy room. I am not sure why exactly made this time different but I remember that she got the elderly neighbor to come with us because my brother was still an infant.

I remember going to the ER and being on a bed but nothing else.

The same stomach aches and frequent infections whirled around me like this for the next several years. Mom had 2 more children.

The Growing Years . . .

My problems started to grow worse by the time I went to kindergarden. I look at pictures from elementary school and cringe at how skinny I was. Why the doctor didn't pick up that something was "VERY" wrong is beyond me.I was much smaller than any of my siblings and struggled with a chronic cough. I also could eat any adult under the table. If any of my siblings couldn't finish their dinner I was quick to devaour it up. I was literally hungry all the time.Without an ounce of fat to show for it. The nagging cough continued.

I believe that my parents are at some fault here, but then again they were busy with 4 kids. Dad was a police officer and isn't good with sick people. To this day bth of my parents are still in a fog about my illness growing up. They would rather believe the fairytale version that I was completely healthy until I left home. I guess there is guilt there that possible, with better care, I could be healthier today but you can't live on woulda coulda's.

The first REALLY serious lung infection I can rememer was when I was 5 or 6. I remember it well because it came on so quickly. I wasn't feeling great and my cough was getting worse. But, it was spring and we all went to play in a pee-wee soccor game. I remember trying to run and suddenly I couldn't breathe.I started coughing and choking on the mucus. My throat and lungs burned.My ears hurt and I felt horrible.

I sat on the sidelines wishing we could just go home.

When we got home, my parents realized how sick I was and called the doctor. He called in another prescription for antibiotics and told my parents to put me to bed.

This scenerio would repeat itself over and over again.

In Kindergarden the doctors desided I needed to have my tonsils and adnoids taken out. My parents made it seem like something really great was going to happen so I was really excited. I had been having non-stop strep infections that could "NEVER" be cleared so they thought this would do the trick. My sister Crystal was 2yo and they desided to remove hers while they were at it. Apparently tonsilectomies were in style in the early '80's.

The surgery for my sister went by without a hitch but, I bled and bled and ran a fever. I could eat or keep anything down. After all that, I was still postive for strep throat 99.9 % of the time.

With the chronic cough and constant diarrhea the doctor finally sent me to a allergist in 3rd grade.Until then he had just managed it with inhalers, various meds to help my stomach and antibiotics. I was started on allergy shots and was put on another inhaler. We all prayed that this would stop the stomach problems and cough.

No Such Luck. . . .

In Elementary school I probably missed at least 5 days of school a year and with each passing year the infections grew worse and worse and more and more school was missed. I was teased for being so thin. I was called String Bean and Bean Pole. The kids would tease me sying that I had AIDS or Cancer. Kids can be so cruel.

In 5th grade we switched doctors for a short while. We were adding and subtracting food from my diet. Nothing works. I had problems with reflux and was put on Zantac and Axid and severa others. I was so embarressed by my stomach problem. During class one day I had a horrible stomach ache and relieved the pressure in my stomach. Well, the entire class was almost in tears and the girl next to me was gaging. The teacher pulled me outside and told me that I could not come back in the classroom and he would send me to the office if I did that again. I always approached life with humour and for a short time the boys thought I was cooler than GI Joe.

I was sent to a GI doctor and after having painful test after test I was found to have malabsorption and pancreatic insuffiency. The doctors thought for sure I had Cystic Fibrosis so that is how I was treated for awhile.Until a doctor decided I couldn't have malabsorption because I was gaining weight.

The Rollar Coaster seemed to go on and on and with each passing year more and more problems arose.

If only I know about the camps that kids with chornic diseases could go to I would have gone in a heart beat. I needed to meet someone like me.

Chest PT . . .

By middle school I was missing an averge of 50 days a year from one illness or another. Stomach Bugs, Strep Throat, Bronchitis after Bronchitis, Sinus Infections, Ear Infections, Skin Infections you name it I had it.

Each morning I would cough and cough and cough up mouthfuls to clear my lungs of the thick sticky mucus. I remember once going into a coughing spasm and couldn't stop.I would cough and cough and cough but could not get any air in. I had gym first period that year and I remember the whole locker room started to spin out of control. I didn't know what to do.  I didn't ever think I would stop. Finally, I cleared my lungs enough to start gulping in air. This happened almost every single morning before I would catch the bus for school but never had I had an attack this bad "in school". 

There was also the time in 8th grade where our chorus class went to a local amusment park to sing. Right in the middle of the preformance I started to cough.The more I held it back the worse it got. Keep in mind I am supposed to be dancing while singing. I mouthed the words and held my breath as long as I could. Finally it just exploded and I went into a full blown coughing fit. I literally coughed the entire song. It was so embarressing.This would have been a great time to know teens like myself.

By then I was on so many steroids to help my failing lungs, I had a moon face and had started to gain weight. I was hooked up to a nebulizer 4 times a day, puffed on a steroidal inhaler 4 times a day, took pills, nasal sprays, and antibiotics just to keep me going. I had dark circles around my eyes and could never get enough sleep.One doctor said I was depressed and that that was my whole problem. I wish I could go back and smack him.

I started seeing a pulmonologist who again thought I had Cystic Fibrosis. I had my first bronchoscopy where the doctor gives you medicine to make you sleepy and then uses a long thin hose to go into your lungs and look around and take samples if needed. The doctor was not a trained in pediatrics but found staph in my lungs and pseudomonas. I was put on antibiotics to use as a preventive. Every few months I would have them switched around from one med to another trying to kill the bacteria.

I remember when Cipro first hit the market. It actually helped during acute infections for awhile. The doctors were worried what the affect on kids would be but we thought the benefit out weighed the risk.

I think back to these years and am so angry that the doctors did not treat my infections more aggressively. I know I should have been hospitalized on several occasions for IV antibiotics. But the doctor didn't even know how to read a sputum culture. I wonder what would have happened if I would have gone to a Children's hospital. They may have picked up on the SDS. 

After having no luck the family doctor had me see another allergist. They did skin testing and I had a major reaction. It turns out now that it most likely was from the iodine they used to clean my back not the test itself.

Anyhow, I was put on allergy shots 3 times a week. This went on for about a year. When I would get sick I would come into the doctors office and they would give me nebulizer treatments and oxygen and another script for an antibiotic.

In High School everything escalated.

There were times I felt liuke I was drowning in mucus and slept in a recliner because I felt like I was drowning in my own body fluids.

I got virus after virus, cold after cold, flu after flu. I wheezed and rattled everytime I breathed and my classmates and teachers could all hear me.

My parents, teachers, and doctors were all mad at me because I wouldn't stay well. I had a special IEP set up,this is a special program that outlines things special needs students have to have done, so that every afternoon in the clinic I would have Chest PT. This is where someone pounds on your chest, back, and sides to clear your lungs of the infected mucus. I would lay tilted downward on a bunch of blankets and pillows and the school nurse would beat the crud right out of my lungs.

Most people might be asking why I was having all these lung problems. With the bone marrow problem I have, I was getting infected with all these infections. Well, one of these infections caused the initial lung damage. It is called bronchiectasis. The airways loose their elasticity and the mucus pools in pockets that form. The mucus then can't be coughed out and so infection than spreads. With each infection more and more damage is done. The damage and inflammation from the repeated infections causes the lungs to produce more and more mucus. So its like a never ending cycle of infection, inflammation, and mucus that pools that leads to more infections.

The idea of Chest PT is that if you pound out the infected mucus it leaves less infection in the lungs. Unfortunately, once the cycle starts it is almost impossible to stop. You can sometimes slow it down, but eventually it catches up to you.That is what has happened to me.

Well, I'll skip up to 5 years ago.

I was refered to UNC Chapel Hill's pulmonary Department for evaluation.

Knowone knew what to do with me. The took the CF diagnosis away again.But they couldn't understand why I was having so many infections.

In November of 1999 I became very ill and developed a resistant staph infection in my lungs that went into full blown pneumonia. It was one of only 2 times that I was literally scard for my life. I was coughing up blood and running high fevers. The ER doctors desided that it must just be a virus and sent me home. The next day I returned to the ER and was admitted almost in respiratory failure.

One of the CF doctors who I had seen refused to believe that I had pancraetic insuffiency. HE ordered a 72hr fecal fat test. Well, the problem with this is that :

1. I was throwing up and not eating

2. They only did it for 48hrs

The doctor then refused to write for my enzymes. I was refereed to the GI Dept at UNC. I met with a great GI doctor that basically shook his head at the pulmonary department's behavior and wrote for a new type of enzyme.

The Pulmonary Dept was furious that the GI guy agreed with me and so they told me I had to see another doctor. My thought was that they would continue to send me to GI Docs until they found one that agreed with them. I wasn't about to play that game. They weren't the ones who would have to deal with the diarrhea and cramps if they didn't take their enzymes.

I evenually got a pretty good relationship with my fellow that took care of my pulmonary needs. She was smart enough to bypass the red tape and attendings when I was sick and needed to be admitted for IV antibiotics.

After another very serious bout of pneumonia she told me that I needed to get n appt with the lung transplant team ASAP. She feared that one day they would not be able to pull me out of another crisis so lung transplantation was the only answer.

When she left to go to a private practice out of state she wrote direct orders as to how to treat my case. Unfortunately, my next doctor did not follow the orders and would not send me for the Eval.

The doctors were so busy trying to prove to themselves that I wasn't having symptoms of Cystic Fibrosis they didn't look at why I was having CF Symptoms. If they had they may have figured out the SDS.

I am now listed for a double lung transplant at the Mayo Clinic in Jacksonville,Florida. I met a wonderful doctor there who took on my case when most would not.He is the one who finally diagnosed the Shwachman- Diamond Syndrome.

I knew that I was sick.I had spent a portion of almost every month of that year in the hospital and was having trouble completing even the simple task of taking a shower or brushing my hair.

When the doctor explained the results of the tests, it all hit home for me. They told me,without a double lung transplant, I will die. Not in 10 years not even in 5 but I have maybe 2 years left on the ones I have now. If I should get a serioud pneumonia I could end up ona ventilator and never come off again. I was just 25 years old. I am not ready to die.

The doctors have started me on something called IVIG to try and boost my immune system. The medication is in thsi HUGE Glass bottle and take 5 to 6 hours to go in. Its not that big a deal except you get a horrible headache and it really makes my bones hurt.

I have goals. I want to leave my house again without oxygen.I want people to see my face, not my oxygen tubing wrapped around it. I want to run for the first time in my life. I want to wake up each morning and not cough and choke. I want to go one day that I don't cough so hard I throw up. I want to go back to school and become a Physician's Assistant and treat young people with chronic illnesses and show them the empathy that I wish the doctors I had as a child showed me. I want to go swimming. I want to yell as a rollar coaster comes screaming down a steap hill.

I want to take a breath and not have to think about it . . .