Here's an odd little twist to the day.

Two days ago, I received these in the mail.
Update packets from The National Institute of Health.  Yep, the big boys of scientific, medical research.

In 2004, I met this amazing Hematologist from the National Institute of Health, her name is Dr. Blanche Alter.  She is top notch in the world of bone marrow failure syndromes!! She has been researching and studying bone marrow failure syndromes her whole life.  She is in her 70's and still going strong.

We started our SDS journey with Doctors from The Children's Hospital in Toronto.  They started out being helpful but then became hell-bent on finding the gene for SDS and kick us to the curb.  It was clear that my kids had some quirky things that didn't exactly fit the SDS profile and they didn't want us muddying the waters of their precious research.  They went so far as to calling our doc, at the time, to tell her that there was actually nothing wrong with my kids.  The kids were pulled from every single medication.  For 4 years, they went without treatment.  4 years of sick kids, in and out of the hospital.

So, meeting Dr. Alter in Cincinnati where we were attending a seminar on SDS was an answer to prayer.  She seemed so important, like she wouldn't have the time for me but I approached her anyways.  I told her the story of Toronto and she said, "Given your children's history, there is clearly something wrong with their marrow.  Let me add them to my study of SDS and bone marrow failure syndromes."

I was so happy!! We spent the next months sending blood samples, tissue samples, bone marrow samples, even saliva to The National Institute of Health; anything she wanted, I sent her.  In return, we were part of her study, she touched base with us periodically and that was that.

When this packet arrived this week, to update our records and fill them in on how things have changed over the year for the kids, I wasn't sure what to do with it, given that we are playing with a new ball of wax.  I called the nurse, Lisa.  Lisa is awesome and though I have never met her, talking to her on the phone feels like connecting with a good friend.

My message to Lisa went something like this, "Hi Lisa, It's Kath from **.  I received the update packets this week but needed to let you know that Dr. Shimamura has found a new mutation that is making the boys sick so I'm not really sure how to handle these packets now. Call me back."

She called this afternoon.  Her conversation went something like this..."Did you tell me Dr. Shimamura found the gene for your boys?!"
"Yes.  She did.  A brand new mutation of a known gene and it is not SDS."
"Kathy!!!!  This is big!"
"NO, THIS IS BIG!! MONUMENTAL. GROUND BREAKING!  WOW, I am speechless.  I told Dr. Alter yesterday about your message and she was speechless! This is huge! You know this is huge right?  Like, this is going down in the record books huge!  Your family is going to be published and will forever be in the archives of medicine! It's big!"

At this point.  I was speechless.  I was stunned. It was like getting the news all over again.  Overwhelming.  Wow! This is huge!  I had totally forgotten that NIH was working on my family too!  Then I had this incredible feeling of gratitude and wonderment that I have had the greatest minds in the world, helping me take care of my kids!  The greatest! The best there is in the world of bone marrow failure!  Only God could have done something like this!  He put me in the right place, at the right time with the right things to say to doctors who really could have dismissed me as a 'crazy' mom.

Of course, NIH won't know what the new mutation is until Dr. Shimamura publishes it.

The little twist was that Dr. Alter had just had a meeting a month ago with her staff and said she wanted to take another look at our family since she has found some better ways of exacting the genome study and wanted to try her technique to see if anything came up.  That is why they sent me the update packets.  Lisa said our family has come up a few times as someone she wanted to focus on next.

I didn't realize until then, that all these researchers are really in competition with one another, if competition is the right word.  They don't collaborate really, independent of one another is a better way to state it.

Lisa spent a lot of time helping me understand the promoter region, how much more rare having a mutation there is than in an actual gene.  I told her what I thought it was going to end up being and she agreed, it is likely that my guess is totally possible, plausible.  That made me sad because it isn't good news to me, she agreed, things could get scary.

She also explained how Shelbie could actually have it even though it is an X-linked disease and that was very helpful.

Even though, I am feeling so exhausted in life right now, I can't help but feel an overwhelming sense of gratitude to see the wonders of God!  Really, the way he has orchestrated things over the past 21 years makes reason stare!  It's one staggering thought after the next!

I still don't understand the timing of it all...Lisa couldn't say enough wonderful things about Dr. Shimamura.  She said the fact that she found a mutation in a promoter region is ground breaking in and of itself...that is cutting edge technology and she wasn't sure NIH could have done that!  Again...only God can explain something like this.

I told her that I had expected to have clinical answers by now and she said, "Noooooo.  This is brand new.  Not one lab in the world is set up to test this clinically.  You are going to have a wait until Gene DX can get their lab set up and technology in place to make this happen."

At least I know to stop waiting for the call today.  Maybe today...must be today....Patience...It's not all it's cracked up to be.

Another staggering day!



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