LeukoSEQ Study Update and Hope

I'm a little behind on this update, partly because life is a bit busy lately, but mostly because writing this post is harder than I thought it would be.  We got into the study!  We've prayed for this, you've prayed for this, and we got in!  Such joyous news... but it comes bittersweet.

About 2 weeks ago, I got a phone call from the contact person with the study.  They told me that they were "tentatively" accepting us, but there was a condition.  The doctor saw something in the MRI that made her suspicious of a possible misdiagnosis -- she thought the white matter abnormalities may have been caused by a virus called CMV that I could have had while pregnant that just has mild flu-like symptoms.  This can be tested with a simple blood test, and while it is still brain damage, it is not progressive and not fatal.  I don't know if I cried harder the day we got her diagnosis, or after that phone call at the thought of the possibility of hope - of a miracle.  And so our prayers changed, and we pleaded for this to be true.  We started researching, and so many of her symptoms aligned with CMV.  I knew this was it... I mean, really, truly knew it.  We got Adelyn's blood drawn and started the wait for the results.  And we didn't tell anyone.  Because hope is SO good, but it's also pretty damn scary.

We got the results earlier this week that Adelyn tested negative for CMV.  And with that, we are in the study.  I was crushed.  I felt like I had finally started to find my strength before, and now I was suddenly back to the teeny tiny person I was a month ago.  Being in the study was exactly what we thought we wanted, this should have been good news, and it is, but it didn't bring the elation we expected.  I've had a lot of people telling me I'm strong lately - but I'm just as strong and as weak as all of us are in times of adversity.  In this moment, I was weak.  And I was sad. And I was angry. 

And in my weakness, tiny me yelled to Mike, "THIS. THIS is why I didn't want to have hope.  This is what I was afraid of.  It hurts SO much all.over.again."

But the crux of it is this... you can't NOT have hope.  There are risks in having hope, but the risks of losing hope are so much greater.  And Mike reminded me that Hope is a lot like Love.  Opening yourself up to it makes you vulnerable, but if you don't, there is so so much beauty and wonder you will miss out on.

Do not be afraid—I am with you!
I am your God—let nothing terrify you!
I will make you strong and help you;
I will protect you and save you.
(Isaiah 41:10)

And I have to say, the Hope that I let enter me... it crushed me in the moment, yes, but it also changed me.  I'm embarrassed to admit that I had taken defeat with our initial diagnosis.  Yes, I love her, yes, I will do anything to help her and protect her.  But she has leukodystrophy, and it is progressive, and it is fatal.  That's it.

When we told our Pastor the news of her diagnosis and asked for prayers from the church, his response included these words: "We will be sure to ... celebrate the gift that she has been, the gift that she is, and the gift she always will be - leukodystrophy be damned. Nothing will ever change the fact that Adelyn is a beloved child of God..."  I was touched at his words, and cried reading them.  But I wasn't quite ready for them yet.  Because at the time, leukodystrophy had damned me, not the other way around.

I think I needed that moment of "false" hope to remind me that I need to have hope.  Leukodystrophy only damns me as much as I let it.  WE decide what controls our lives.  WE decide what actions to take day in and day out.  WE decide what thoughts we choose to entertain. And now I'm ready.  Leukodystrophy be damned.  And as long as we remember that WE have the power to control how we react to our own personal plights, WE will always win.  The outcome doesn't affect that truth.  Maybe she'll beat the odds, and maybe she won't, but we will give her the best life imaginable, and we will fight with every ounce of our willpower, and we will think positive thoughts, and in that - we. will. win.

This week I am a new me.  I'm remaining realistic about her condition.  I know her "normal" will not look like other children's "normal."  But I'm not about to take leukodystrophy lying down.  That hope lit a fire in me.  Doctors are wrong all the time.  Medical miracles really do happen.  People surpass life expectancies.  Not always, maybe not for us, but I'm not just going to accept that and go about my life like there's nothing I can do.  We are in physical therapy, we are in occupational therapy, we are applying for a service dog, we are traveling to Philadelphia for a neurologist who is the best in the country for this type of disorder, we sent our MRI discs to the Netherlands for a second opinion from the best doctor in the WORLD for leukodystrophy.  We will seek new treatments, explore every avenue that is open to us, and find the ones that are closed and break down the doors.  I don't know what the outcome will be.  I don't know what her future - our future - looks like. 

But I have Hope.


 

Blood work for the study is done - we're in! 

And even mom and dad aren't too old for cool bandaids!

Initial Genetic Blood Work

Adelyn's initial blood work for the most likely types of leukodystrophy came back negative. Her clinical records and MRIs were sent off to a genetic specialist who selected which of the known types of leukodystrophy fit her case and tested for enzymes that would match those types.  While on one hand we are relieved that we now know for sure it is not the most severe form, Krabbe (life expectancy 18 months to 2 years), we are also left with a lot of questions since all the ones tested for came back negative.  A lot rides on that information, but only 50% of leukodystrophies ever get diagnosed.  We are really praying that we don't permanently stay amongst the undiagnosed. 

We found out about a study called LeukoSEQ at Children's Hospital of Philadelphia, which has one of the nation's leukodystrophy centers and is run by one of the top doctors in this field, Dr. Vanderver.  We applied for the study, they've reached out to our hospital to have her records forwarded to them, and now we are just waiting to find out if based on her MRI and clinical data she will qualify.

This is why qualifying for this study would be such a big deal:

We currently know and understand approximately 2% of the 30,000+ genes that make up our DNA.  A regular geneticist, through the typical route of diagnosis, can order a DNA test called Whole Exome Sequencing (WES).  This test takes 4-6 months to get results back, but it pulls apart and studies that 2% of genes we understand and checks to see if there are any matches to known leukodystrophies (or any known genetic diseases for that matter).  All currently diagnosable genetic diseases are found in this 2% -- MS, genetic heart conditions, etc.

If we qualify for the LeukoSEQ study, however, they will do something called Whole Genome Sequencing (WGS).  This would analyze 100% - every.single.one - of Adelyn's 30,000+ genes AND both Mike's and mine (free of cost as it is funded by a research study).  They will look at the 2% we know, but also at the other 98% that we don't yet understand, because they are searching to learn more for the sake of research and developing knowledge in this field of DNA and leukodystrophy.

The person who told me about this study from a Leukodystrophy support group had previously been a part of this study, and they found a new type of leukodystrophy for her daughter, and were able to identify that she and her husband were in fact carriers, whereas if they had gone a standard medical route, it would have always gone as an undiagnosed type and they would have never known if it was specifically a hereditary genetic type of this disorder or if it had been a spontaneous mutation.

The study also takes many many months to get results (and there are also cases where it still comes back inconclusive), but we feel this is our best option right now.

Prayer requests:

1. Short-term: Adelyn will be accepted into the LeukoSEQ study.
2. Long-term: We will have a conclusive diagnosis for her leukodystrophy type.

Thanks for your continued prayers, love, and support!  I'm amazed at how many people are following our story and have to say -- we have one pretty badass tribe!

"My tribe is HOW big??? Wow!!!"

"That makes me so happy!"

 "Okay, let's all pray.  I'll start."