Skip to main content

Our Nutshell Story

For years, we have been told that my kids had a disease called Shwachman Diamond Syndrome.  For the most part, it seemed they had a the text book version but...over time, things got more complicated.  It started to look a little different.  In 2009, we met an amazing Hematologist at Seattle Children's Hospital.  It was serendipity.  One long night of searching for help for my kids, I stumbled upon her name.  Never in my life, have I thought we would be one of those families who went from specialist to specialist, trying to get answers.  Just for 'fun', I called the number on the website...She answered!  Not only did she answer, but she said she would like to meet my kids the following week!

Well, long story short...that first meeting we joined some research studies she was working on.  Finally, in December of 2013, she found the gene that was making my kids sick.  It was not Shwachman Diamond Syndrome as we had thought.  It's called Dyskeratosis Congenita.  A disease that masquerades and Shwachman's but has more complications and a shorter life expectancy.

Life has been hard this past hear as we try to adjust to a new way of thinking.  As we process what this new diagnosis means.

Shelbie, my oldest has been through two years of Chemotherapy, a nine month round in 2007 and 4 months in 2010.  It has changed her.  Her immune system has gone into failure and she now receives plasma transfusions every months.  Her mind is not as sharp as it once was and she often has problems remembering things and processing things.  Mitochondrial disease has snatched away so much of her energy.  Walking is difficult and we have learned that as much as we hate to use braces and wheelchairs, it is necessary at times and makes life so much easier for her.  Day to day activities are often a problem for her.

Spencer has declined a great deal in the past two years as well.  Not a day goes by that he isn't sick and nauseated.  He often loses feeling in his legs and his hands.  He suffers with chronic gastrointestinal problems, chronic diarrhea and his bone marrow is only functioning at about 15%.  It appears that his immune system is also beginning to fail and blood transfusions for him are very much in his future.

Samuel is my youngest and though he has been healthier than the other two, he is starting to wear down more than usual.  He too has lost a lot of bone marrow function just recently.  He is also at just 15%.  Despite his decline, he manages to do the things that are important to him.  His learning disabilities continue to be difficult for him.

All three kids, in addition to their bone marrow problems and pancreas insufficiency also have Dysautonomia.  A condition affecting their autonomic nervous system.  They can't regulate their body temperature, they lose their balance, break out into hives for no apparent reason and a host of other discomforts.  They have developed tremors in their hands and clonus in their muscles.

Not a day goes by that someone isn't in pain or feeling weak and sick.  Life, by all accounts is hard for them but you will rarely see them looking at life from the sidelines.  We have learned to embrace each moment we have, we have learned to laugh in the face of fear and to live out each day to its fullest!  For each day we have been given, we are grateful and blessed.

Life with chronic illness can be a lonely place and a tiring place.  A place of uncertainty.  Sometimes, it drains us of energy.  I hate those days, the days when I feel weak and fearful.  Despite the trials, I wouldn't trade this life for anything!  We have learned so much and grown in ways I never thought were possible.

We love deeper, we laugh louder and hold on a little longer.  Join us on this journey of life.


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 …