Skip to main content

Dyskeratosis Congenita

My three children were all born with a genetic disease called Dyskeratosis Congenita.  It is a rare maternally inherited disease of the telomeres, causing numerous problems.  It is characterized by insufficient function of the pancreas which causes malabsorption of vital nutrients and vitamins to take place.  Bone marrow failure is also a common characteristic of this syndrome. It also affects just about every other organ and cell in the body.

In 1999, there were 92 cases confirmed in the world.  Since then, the number has risen slightly but the bottom line is, this is an orphan disease.  Extremely rare.

Telomere's are located at the ends of the chromosomes.  They protect the chromosome from getting damaged.  In DC, the telomere's get shorter and shorter.  This means, the chromosome is left unprotected and damage begins.  This process, takes on the look of organ failure and a high percentage of cancers.

There is no cure for DC.  Early screening and treatment for cancer is the best case scenario and most DC patients require a bone marrow transplant before age 30.

My children have a mutation in the promoter region of the gene, the area that tells the gene what it is suppose to be doing.  There has only been one other person worldwide with this mutation so we truly are pioneers in this journey.

Come along...I don't promise that it will always be filled with good, happy thoughts but we are definitely learning a lot!

Popular posts from this blog

Things that can't be counted.

Albert Einstein said, "Not everything that can be counted counts and not everything that counts can be counted."

You count the hours in a day, the days in a month, the months in a year. You can count calories, your money, your chickens, even before they hatch!   But what does all that accounting count for?

We count and manage the things that we can measure, the tangible things of life.  We tally the score and size someone up according to the numbers.  To count anything other than the concrete things we can see and measure, seems a lot like herding chickens.  We can say, "I love you THIS much!" and spread our arms out but what is that?  How much is 'this'?  Intangible things are often immeasurable, fleeting, circumstantial, seemingly small; a moment of joy here, a little bit of love there.  By not measuring the abstract, we remain in a state of survival, just getting by, fitting in to the numbers game.

I recently heard about the country of Bhutan and what I …

That boy!

Sam loves to think he is invincible.  He loves to push the limits physically.

Tuesday morning, I decided to gently tell him his heart is showing increased signs of struggle and he should take a little more caution in how far he pushes himself.  I tried to balance the reality with what I know he can handle emotionally.

Well, he got mad.   "I've had a heart problem forever, it's not just going to quit now, the week before a pacemaker!"

"Even hearts have an expiration date.  God doesn't want us to do dumb things to create more trouble than is necessary.  Just tone it down, that's all." was my reply.

He left for work right after, mad.  He slammed the front door and was gone.

About 2 hours later, he came back through the door with a bruised face and the skin off his nose with blood all over.

"What happened??!!"
"I'm not telling you!"
"hmmmm, you did something crazy to prove a point that you can do whatever you want."


Standing Amazed

I should break this up into a couple of posts rather than one long one...but here we go!

Friday was Spencer's birthday!  23 years for this son of mine.  He couldn't come home from Utah until Saturday so we celebrated then.  

Back in May, we stumbled upon this little cafe in a neighboring small town.  With our food, we each got entered in a drawing for a chopper motorcycle.  The ticket Spencer got was his birthdate and the drawing for the bike was the day after his birthday so he was sure it was a sign he would win the bike.  He has held on to that ticket all these months.  Part of his birthday request was to go back for the drawing and pick up his bike!

So we did!  Holy Cow...that little restaurant had transformed into a biker bar!!  It was hilarious and embarrassing.  We have had some friends visiting from Colorado and they were with us.  I really had no idea what the event would be like but clearly, not a wholesome family experience  but it was still kind of fun to see all …