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Fatboy Interviews Beautiful: A Love Story

Beautiful, simply beautiful

Beautiful, simply beautiful

It’s the time you’ve all been waiting for: Beautiful speaks! Sure, she leaves comments, which was a HUGE deal for her. This is the first site she’s ever been compelled enough by my writing to leave a comment for all to see, and now she has her own site over at kris·tin·ol·o·gy where she tends to talk about me some, too.

Here’s the format that this took place with: I wrote down a ton of questions in this as a draft and let her take her time to answer as many of them as she wanted to, and then we deleted the ones that didn’t make the cut or didn’t get answered for one reason or another. Basically, it’s a 60 Minutes interview after the producers get their hands on it, except all of her answers are in her words and in complete context. Ready?

Fatboy: Hey, Beautiful! Whatever made you want to go out with me that first time, be it that freezing Memorial Day at the beach or our first date?

Beautiful: You were interesting. We could spend forever talking about nothing. You always had such a different perspective on things than I did. I couldn’t wait to see what you thought.

Fatboy: When or how did you find out that I have cystic fibrosis?

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The History of Cystic Fibrosis

Dorothy Hansine Andersen

Dorothy Hansine Andersen

Because the symptoms vary and are largely hidden, cystic fibrosis was only described and suspected for the last couple of centuries without having a true diagnosis of the disease until the turn of the 20th century. Observations of scarring of the pancreas and meconium ileus came first, pathologically, but it was documented in the 1700s, “Woe is the child who tastes salty from a kiss on the brow, for he is cursed, and soon must die.”

Imagine having infants dying within days because their intestines are literally blown apart at birth. Toddlers who are half the normal weight or less because they aren’t absorbing their food because their pancreas isn’t providing enzymes. These are invisible problems and involve issues that aren’t even understood yet. “Failure to thrive” was often what was put on death certificates of people we can trace back as potentially having died from CF based on family history.

Based on the research milestones according to the list on the Cystic Fibrosis Foundation site, there is good reason for hope of a cure:
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What, Exactly, Is Cystic Fibrosis?

How does cystic fibrosis do what it does?

I’ll admit it, we either have to stop and think of the logic of what the biological process is or go to Wikipedia and look it up to refresh our memory. I’d rather have the information here at my fingertips, so here goes a scientific/layman combination attempt at explaining what is wrong with CFers’ bodies.

CF LungsCystic fibrosis transmembrane conductance regulator – CFTR

What the heck, Fatboy? I know, I’ll explain this – don’t worry. Simply stated, this is a protein on the a gene in chromosome 7 in people that regulates the balance and flow of water and sodium chloride between cell membranes to keep a consistent ratio of water in one’s cells. In cystic fibrosis, particularly in the mutation referred to as ΔF508, it just doesn’t work. I happen to have a double ΔF508 mutation (one gene from each parent) that makes my form of CF the “most common” by percentages of mutations known of the CFTR gene.

That means thick, sticky mucus and other bodily fluids

From an early age, even inutero, this gene can wreak havoc on the body, depending on the mutation. Some CFers go decades without diagnosis because they generally function just fine with their mutation. Others are on the lung transplant list by the age of 5. I happened to be born with exploded intestines, which is a common, obvious diagnosis of CF in infants called meconium ileus and have a huge scar running from side to side across my gut.

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Ask Fatboy: Issue 2 – My Grown Son May Be Depressed

I just received a question with a little sadder tone than Ask Fatboy: Issue 1 had, but I imagine it is a common feeling for parents with adult children with CF who are where her son is. With her permission, we take a look at the issue at hand and what I have to say about it. She writes:

I’m watching my 22 yr old son struggling to gain weight. Also seems to be getting depressed watching his friends getting married and so to speak moving on. Do you have any suggestions? – Maribeth

I can fully and completely identify with both of those problems, but my suggestions vary widely based on where he is in life right now regarding work, college, friends, living arrangement, and his relationships with his parents and doctors. If you’re reading this, “son,” don’t take any of this as talking “down” to you nearly as much as “at” you, because I have been where you are according to the request from your mom. You may have additional circumstances, but from what I know at this point, you and I are cut from the same block, and that’s how this is addressed.
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