This isn't a very far throw back, but for "throw back Thursday" I wanted to repost a blog entry from the fall. This is a letter that I wrote to Beckett to try to explain some of his diagnoses to him. A few things have changed since then: the doctor is now calling it atypical Cystic Fibrosis as opposed to Cystic Fibrosis Related Metabolic Syndrome or Cystic Fibrosis Related Disease. In addition, there have been some changes in his treatment. And the geneticist has added that something is most definitely affecting his skeleton (skeletal dysplasia), but more on that later.
For now, I really just wanted to help our new readers understand what atypical cystic fibrosis means for Beckett. This will give you some history.
And again, I cannot thank you all enough for the support and love you have shown our family. We are so encouraged- more than you can know. And we feel so blessed to have so many people praying for sweet Beckett. Thanks for reading, and thank you for your prayers and love!
Dear Beckett,
Wow. It is hard to know where to start. Over the last 18 months (this occurred when you were 1.5 years old), you have been through so much. Test after test. Searching for an answer. You have been tested for GERD, pyloric stenosis, hirschsprung’s disease (several times), Cystic Fibrosis (several times in several ways), Biliari Atresia, William’s Syndrome, Noonan Syndrome, Hypochondroplasia, SHOX related short stature, Mitochondrial disease (on the beginning levels), tethered spinal cord, and several things that I am forgetting or unaware of. You have endured countless x-rays, blood tests, enemas, surgical procedures, MRIs, hospitalizations, EKGs, Echos and other pokes. You are so strong. But sometimes I wish you didn’t have to be.
Today we got one step closer…closer to our answer. You may wonder why we were so desperately looking for an answer- a name. I think it is because we as humans have a God-given need to name things. The first thing you usually tell a person is your name. The first question one asks an expecting mama is “what are you going to name him/her?” Something to call it. It began in the garden. And our human desire to have a name for something continues. Without a name, we do not know what we are up against, we do not know what we are fighting, and we do not know how to prepare for battle. We have no map because we do not know where we are going. It is hard to plan for something that you cannot name. It is hard to understand something without a name. So, my son, we looked desperately for a name, an answer...in order to bring you relief. And now we are closer—or we may even have as much of an answer as we ever will have.
Throughout this year, you have made many friends. Other friends who are looking for an answer. Friends who wholeheartedly search for a name…different stories, but all searching. A name would bring support and understanding and awareness. We have learned each others’ names and we pray for each other—from different parts of the country. It is really quite amazing. Because of precious you, we have met people that otherwise we never would have met. We have prayed for families that you brought us to. And they have prayed for you.
Because of these friends, most whom we have never met, we learned about research being done in Cincinnati, Ohio…far away from here. And we knew that we needed to get you there. So after much prayer, things went very smoothly, and we made our trip to Cincy.
So back to our answer—You have been diagnosed with a Cystic Fibrosis related disease. Apparently, there is a CF spectrum, and you are on it. It is hard to know what this means for you. You are a bit of an exceptional case. Your diagnosis is based on your colon biopsy. The doctors looked at pieces of your colon for something called CFTR. Your colon is what the doctor calls, "Cystic Fibrosis tissue."
Here is how it works:
Cystic Fibrosis is a disease that affects the lungs in the digestive system. For you, it seems to drastically affect you digestion with less lung involvement. Usually in CF, the mutated gene tells the body to make a defective form of a protein called CFTR. The CFTR is in your lungs, digestive system, sweat glands, and genitourinary system. So this defective CFTR function keeps your body from regulating the way chloride and water move through the systems. Instead of having a normal, thin layer of fluid and mucus, people with CF build up a sticky, thick layer of mucus.
The sticky and thick mucus traps germs in your body. So your body doesn’t fight off germs the way most people’s do. This causes mommy to be extra-cautious in where we go and what we do. We want you to stay healthy. Some research shows that lung problems can develop later in people with residual CFTR (like you). We pray for strong and healthy lungs!
The sticky mucus in your digestive system is where most of your problems lie. The sticky mucus keeps your body from using your food the right way. This makes it very difficult for you to gain weight and grow. You have a pretty good appetite, but you have to eat twice as much as everyone else to gain weight. Even with a normal appetite and a good diet, growing can be hard for you. They are not sure how your constipation comes into play here. Kids with CF tend to go too much or too little. But I don't think many have constipation like yours. The CF doctor said he wasn't sure if the enzymes would help your constipation, but that they should help your growth. And that they have. Digestive Motility is still a pretty big issue for you. We are still trying to figure out how to best treat this.
Here is the catch: Remember when I said a genetic mutation on the CF gene is what tells one's body to have no to low CFTR function. Well, you have no genetic mutations that has told your body to have defective CFTR. So this leaves your doctors feeling very puzzled. Cystic Fibrosis is caused when there are two known disease causing mutations. This is where they are stumped. Your body does have the deformed CFTR function. That we know. What we do not know is—what told that to happen? There are nearly 1400 genetic mutations of the CF gene that cause Cystic Fibrosis. There are a couple of theories: a) you have an unknown mutation—one that has not yet been discovered. Or b) something else—not genetic—has caused your body to have the low CFTR function.
The doctors are working on figuring this out. There is one other little girl that has been diagnosed this way that we know of. Some day ya’ll will meet. Perhaps you will make history.
In some countries, this biopsy alone is enough to make the full diagnosis of Cystic Fibrosis. Here, they look at the genetics.
The CF research doctor in Cincinnati has changed your life in many ways. He is researching and tells us he will keep us updated as he learns more about this spontaneous low CFTR function. He got you started on the enzymes that have greatly improved your life. He contacted a doctor here to help you and watch you. He told him your story so that he would understand you. He answers my emails within hours and enjoys seeing the updated photos of you. We are very thankful to him and how his research has affected your life.
The reason I say that this is a step closer is because one thing all specialists are in agreement to continue testing for “more.” We are waiting on one last big genetic test that will help us understand if there is anything more going on. I guess after that, they will decide if Cystic Fibrosis is the full answer or not. For now, they seem to think the Cystic Fibrosis disease is a piece of the puzzle.
One thing we do know is that while the doctors don’t exactly know what is going on, our strong and mighty God does. He planned you- perfect you. He holds you in his big, strong hands, and he loves you. And you are truly amazing. Your smile has the ability to light up the room…seriously. And oh, how you are stubborn! But I think the stubbornness works for you. This is what makes you such a fighter. God knew you needed a stubborn streak.
I am not yet prepared to answer the tough questions I know the future will bring. I know the day will come when you will ask me, "why?" or "when will I be better?" or "what if" or "how." I pray that when the questions come, daddy and I are prepared to answer.
I am amazed at your strength. You are one tough cookie! Mommy and Daddy are so proud of you, and we are so thankful you are our little boy to treasure and raise. We are so blessed by you and Brant. God is good.
Love,
Mommy
Psalm 139- New Living Translation
You made all the delicate, inner parts of my body
And knit me together in my mother’s womb.
Thank you for making me so wonderfully complex!
Your workmanship is marvelous- how well I know it.
You watched me as I was being formed in utter seclusion,
And I was woven together in the dark of the womb.
You saw me before I was born.
Every day of my life was recorded in your book.
Every moment was laid out before a single day passed.
How precious are your thoughts about me, O God.
They cannot be numbered.
I can’t even count them;
They outnumber the grains of sand!
And when I wake up, you are still with me!
