Adelyn's Open Book - And The Story Has Only Just Begun

Thank you to everyone for the overwhelmingly positive response to my last post on sharing Adelyn's story, requesting you to ask your questions, and end the silence that surrounds special needs.  Both privately and publicly, I was flooded with messages of encouragement, gratitude, strength, and honest heart-felt questions. We are so blessed.

As you know, we were at CHOP this week, and that was the reason for the delay in this follow-up post. Some of your questions are my questions too, and I wanted a chance to talk to Dr. Vanderver for the most "up-to-date" info before sharing.  I don't have answers to everything, but will answer as honestly as I can for all of your questions.  So in no particular order, here goes!

Is leukodystrophy the official diagnosis? Have the doctors determined what type? Has sweet Adelyn been given a new or more hopeful prognosis (it seems she's doing so well)? 

*All of these questions are my own - the questions that keep me up at night swirling in my head. The short answer is we truly don't know right now.  Adelyn's genetic testing all came back normal in August, which was certainly hopeful.  I asked our doctor yesterday specifically, "Is Adelyn considered undiagnosed leukodystrophy, or just undiagnosed period right now?"  Dr. Vanderver told me it was a great question and she wished she could give me a clear answer, but assured me that regardless, our care with her and the Leukodystrophy Center is completely unaffected and as a white matter specialist, she will continue to see Adelyn as long as we keep coming to her, and she will keep searching for answers for us.  Adelyn has another MRI coming up in the next couple months (not scheduled yet, so I don't know exactly when), and those MRIs over the next few years will be helpful, along with how she progresses, in determining a diagnosis and how she will do long term.  

We recently discovered that Adelyn has a few very subtle anatomical abnormalities (like slightly off-centered pupils), that are formed during the end of the first trimester.  In going back over my sick days and medical records, I was very sick at that time.  There are no guarantees or definites,  but there is also a possibility this was all caused by a virus in utero.

We choose to focus on the hope that Adelyn's condition is not degenerative and provide her with all the resources, therapies, and medical treatments she will need to live a long and happy life.  And no matter what, we really feel that every day with her is a blessing and a miracle.

What have the latest scans/MRIs shown? 

*Her August MRI revealed the hydrocephalus, and because of all the extra fluid around her brain, the doctors were unfortunately not able to see the white matter clearly.  At the time, the MRI did show atrophy of the brain, and it was unclear whether or not that atrophy was caused by the hydrocephalus (fluid causing pressure and "squeezing" the brain, essentially compressing it), or if it was the disease regressing.  At our ER visit in early November due to unexplained fever, they did a CT scan.  This revealed that her brain had grown completely back to normal size, so we now know for sure the atrophy was caused only by the hydrocephalus, and was not progression of disease.  However, that CT also showed unexplained bleeding around her brain, which was cause for much confusion amongst the doctors.  At her next MRI, they will be looking at both Adelyn's white matter (which should now be clear to see since the extra fluid from her hydrocephalus has been resolved with her shunt), and checking on the bleeding to see if it has resolved, if there is any new bleeding, etc.

Are there any clinical trials for treatment she could participate in, in the future?

*At this point, unfortunately no, because we do not have a diagnosis.  Hopefully if we can put Adelyn's puzzle together at some point, we will be able to begin looking for trials she could be part of, but it's simply not possible without knowing the cause of her disabilities.

What will happen to your service dog if/when Adelyn passes away?

*We are hopeful that Adelyn will outlive her service dog.  If that were to not happen, we will sure as HELL be keeping that amazing dog and integral part of our family! ;)

Can you have more children? Do you want more children? Will they have the same problems as Adelyn?

*All of my good friends and family know how much I have always wanted a big family.  In an effort to keep this an open and honest post, with Adelyn's initial diagnosis, I was hit with blows from so many directions, and I really felt like I was grieving not only Adelyn's grim prognosis, but also the "loss" of children I hadn't had yet.  From that very first day in the hospital, when we thought Adelyn's condition was definitively genetic, Mike and I resolved that our family is not done.  Whether it be through a normal pregnancy or adoption, Adelyn will have siblings one day.  She deserves them, and we know in our hearts that we are called to be parents to more than Adelyn.  Now, with normal genetic results, we have a very low chance of future children having similar issues and we are excited and eager to expand our family when the timing is right.  

How is your marriage? 

*Stronger than ever before.  We need each other, both emotionally and practically in divvying up tasks to meet Adelyn's needs.  We are so blessed to have family nearby that is very eager to babysit and provide Mike and I with date nights so that we can make our relationship a priority.

How is Mike with all of this? 

*Amazing.  Seriously.  He's strong, he works harder than ever before, he makes us laugh, he knows what to say when I'm feeling down.  I step back sometimes and have no idea how he does it... but he's a big part of the reason I can do it too.

How do you do this? 

*I look at that beautiful, perfect baby girl and have all the reason I need.  One day at a time.

Are you resentful toward people with "typical" children? Are you angry or bitter? 

*Honestly, no.  I know that answer isn't the same for every parent with children with medical needs, but I really feel like she belongs to me and I belong to her.  There's no one in the world I would rather be mommy to, and that means I take all of her.  She was meant to be ours and we'll take the challenges that come as best we can.  In fact, ya'll should be jealous of ME that I get to have this sweet babe all to myself! ;)

What do Adelyn's seizures look like?

*Twitching of her arms and legs and an absent stare.  They are focal, or partial, seizures, so they aren't quite as dramatic as the "grand mal" seizures you might be more familiar with from movies and such.

How many appointments do you have a week/month?

*This varies quite a bit sometimes, but right now, we have 6 therapies a week, 1 acupuncture session a week, vision therapy once a month, and roughly 1-5 medical appointments a month.

Do all the doctor appointments overwhelm you? 

*They certainly could if it weren't for two really important factors: 1. My BOMB medicaid attendant, and 2. I seriously love our doctors and therapists SO much that I genuinely look forward to (most of) our appointments.  It feels good to have people on our team, fighting for Adelyn with us.

Do you really need a Medicaid attendant? What does she do?

*Need is a tricky word.  Could we survive without her?  Yes, we did before we were approved.  But having her gives us some semblance of normalcy in a life that otherwise couldn't.  By helping with therapies, medicine, and daily tasks for Adelyn, I'm able to do things like household chores, grocery shopping, and eating (many a lunch went uneaten before she started).  Since Adelyn can't do independent play and still develop in the way a "normal" child does, I was always having to choose between letting her lie there unengaged (and often crying) or not doing anything else at all.  I'll give you a hint which of those options I chose - and our home greatly showed it!  Having Lara start as our attendant has made a world of difference in being able to maintain my sanity and feel almost "normal" amidst days filled with therapies and helping Adelyn.

Are you exhausted? Are you getting enough sleep? Do you take any time for yourself? Do you ever feel guilty about it? 

*Wellllll I'm a mom, so yeah, I'm tired some days... I bet you are too! ;)  Adelyn has always been a great sleeper and I've said that God knew she would be a handful so He at least made sure we are well-rested.  Haha.  Yes, MOST nights, I really am getting enough sleep.  I do take time for myself too.  Mike and I get date nights a couple times a month, and I love crafting after Adelyn goes to bed at night - it's my "relaxing" place.  I don't feel guilty about it because having that time for myself helps me be a better mom, and that's better for Adelyn.  I also think this contributes to why I don't feel angry or bitter (see question above), and it comes full circle that keeping time for myself (and my sanity lol) benefits our whole family.

Do you need meals (even once in a while)? How can I better support you through all of this? Are there any tangible needs that can be met through me or the rest of your tribe? Do you need any additional financial support? Do you say “yes” when people ask to help or do you just say thank you and not take their “help”?

*These questions might be the hardest of all.  I guess I have to admit we are terrible at accepting help with two exceptions: 1. family - we abuse their generosity more than we probably should! and 2. when people don't ask to help, they very firmly insist or just do things for us without asking at all.  Like I said above, need is such a tricky and relative word.  Do we need meals? No - and quite frankly, Adelyn and I have dietary restrictions that make it quite difficult for people to bring us meals anyway (gluten and dairy free).  I really do just fine getting meals on the table most nights, especially now that we have a Medicaid attendant.  Is it wonderful when people bring us meals anyway? Yes - hell, what mom wouldn't love a delivered meal, special needs aside?? ;)  Thankfully our insurance really has covered almost all of the costs associated with our hospital stays, doctors visits, and therapies, so we don't need financial assistance.  Honestly, the thing we love most from our tribe is when people tell us they are keeping her in their thoughts and prayers.

What should I say? What should I not say? 

*Most parents LOVE to brag on their little ones, and we are no exception!  Ask us how she's doing, what's new, her likes and dislikes, and anything else you would ask the parent of a typically developing kid. If you have medical questions about her, just think of it as you would a kid who broke their arm or had the flu... feel free to ask questions about her hospital stays, how she's feeling or doing, etc.  Don't -- worry so much about saying the wrong thing... it just leads to more awkwardness!  And if you do realize you accidentally said something insensitive or put your foot in your mouth, a simple "sorry, I don't think that came out how I meant it" is perfectly fine - I promise I'll smile and tell you I understand (and mean it!).  Don't feel like you have to have the perfect encouraging or inspirational sentiment to share.  Just speak what's on your heart, ask about her, tell us she's cute ;), and listen to what we have to share.  

Thanks for continuing to join us as we write Adelyn's story!  Her tribe keeps us going, and the fact that you care means everything!

We Need to Talk

Because this is hard, but it's harder alone. Because we're a tribe. Because you're curious and I would be too. Because I want you to know it's okay to ask, and because I want to encourage you to TALK to families with special needs.

A lot of people are scared to talk to you once you become a parent to a "special" child. They care - but they are scared.  How do you begin? What do you say? Will you put your foot in your mouth and say something that offends me? We've become a society so "in tune" with people's feelings that I worry we've gone too far. People are so scared to say the WRONG things, that they simply don't say the THINGS at all. And when we become distant from each other, when tribes drift apart, THAT, my friends, is what's scary.

So here we go. Ask me your questions. Open, candid, honest, scary, uncomfortable questions. Comment below, or click the link to a totally anonymous survey, and ask the things you'd like to know. I promise you won't offend me, and I'll collect them and put together a very open question and answer post.

Some examples of questions I (really) have been asked, and that I will answer, to get you started: 😉

~Can you have more children? Will they have the same problems as Adelyn?

~What will happen to your service dog if/when Adelyn passes away?

~How many appointments do you have a week/month?

~Do you really need a Medicaid attendant? What does she do?

~What do Adelyn's seizures look like?

Adelyn’s Open Book Survey

Poor Me

Dear Adelyn,

Oh baby girl, what a year we have had. It's the eve of your first birthday, and here we sit, ready to spend that special day in the hospital tomorrow, of all places. I've got tears in my eyes, but they aren't for the reasons you might think. I'm not feeling sad that we're in the hospital, and I'm not sad because of the challenges you have faced. 

No, tonight I'm a mom like every other and I believe these tears are a bit of a right of passage on first birthdays. My heart explodes with joy and the happy tears flow as I reflect on this past year and wonder how the time has gone by so fast. 

365 days ago I went to bed with you in my belly, knowing that the next day I would hold you in my arms. Nervous anticipation and aching hips kept me awake while I knew I should sleep. 

Poor me, I had no idea what was coming.

I had no idea how your fingers would feel curled around mine.

I had no idea how precious it would be to cuddle your warmth in the night, just the two of us, during your night feedings.

How you would play with your hair to soothe yourself.

How you would belly laugh at our silly voices.

How you would calm to any song and try to sing along.

How you would love the feel of your hands on daddy's hair.

Or the way you would smile up at me with big wide eyes like I was your world.

I didn't know you would be such a hard working baby, never giving up in your effort to reach new milestones.

I didn't know you would look so cute while sucking your sweet little thumb.

Or how it would feel when you bury your head in my shoulder for comfort that only your mommy can give. 

I had no idea how big my heart could swell.

I had no idea how the love of our whole big tribe would grow for you. 

Yes, poor me... 

I didn't know you yet. 

This has been the best year of my life. Happy birthday, baby. I love you so much, and I can only imagine what I will come to learn and love about you in the next year. 

You are beautiful. You are perfect. 

Love,

Mama

Children are God’s love-gift; they are heaven’s generous reward.  – Psalm 127:3

I Shall Live and Declare the Works of the Lord

The last few weeks have been a blur - everything happened so fast.  We've been anxiously awaiting our appointment at CHOP on August 24 to hear the results of Adelyn's leukodystrophy gene study, but it's far enough off that I've been able to try not to think of it much.

Mike's project at work has been going well, he tells me each night when he comes home.  And then one day he comes home and says, actually - it's going REALLY well.  They want him to deploy and continue the project in Afghanistan.  As soon as possible.  How quickly can they get him there?  In a couple weeks, if they can figure out the logistics fast enough.  A month or two if it takes longer than they'd like to get the orders in place.  Be prepared to go soon.  It's a relatively short deployment, likely two months.  We can handle that.

But then we remember.  The CHOP appointment.  I can do a lot of things.  I'm independent.  I'm strong.  I can handle a deployment.

I canNOT do that appointment on my own.  I can't hear the news of  OUR daughter's fate without him there.

So I frantically contact CHOP.  Please.  I need him there.  Help us... is there a way?

We'll do our best.  We'll try.  We want him here for the results too.  We'll be in touch.

Yes.  We did it, we have the results.  Your new appointment is August 3rd... NEXT week.

And, by the way, when you're here, we're going to need you to see an immunologist too.

Huh??  Okay...

I spend the next few days Googling everything I can think of related to white matter disorders and immunology.  There are a lot of explanations and I know it's fruitless to search for answers until they tell me the results on Thursday, but still, searching is SOMETHING.  It gives me a feeling of control to research and contemplate my personal theories.  I talk them in circles while Mike dutifully listens and agrees to each possibility.  To pass the time until an appointment we waited six long months for, and is now suddenly and imminently upon us.

And then Thursday arrives.  Adelyn is up at midnight.  Our alarms are set for 3 am.  Not much sleep, but we both bounce out of bed alert and ready to go when the alarm goes off.  Nervous chatter in the car.  Breakfast when we arrive.  My heart is pounding, my stomach aching, but I somehow manage to eat.  We walk out of the cafeteria and head to the 6th floor where the Leukodystrophy Center is located.  I burst into tears on the elevator.  "Already??" Mike teases and then whispers to Adelyn, "Daddy's nervous too, he's just better at hiding it than Mommy," with a laugh and a kiss to her sweet forehead.

We check in at 7:30 and are put in an exam room.  Our appointment is at 8, and every minute ticks by so slowly.  8:01. 8:02. God, where are they??  8:23, 8:24.  I'm practically holding my breath.  The doorknob turns, and the three familiar and friendly faces of the neurologist, genetic counselor, and nurse walk in, and I exhale.  Whatever it is, whatever they say, our baby is our baby and nothing has changed.  Nothing but our knowledge; SHE is exactly who she was when we walked in that door, and that doesn't change no matter what they tell us.

Our results, though, are surprising and more than a little unusual.

They found a genetic mutation on the LYST gene that is *sometimes* connected to a disorder of the immune system called Chediak-Higashi Syndrome (hence our appointment with immunology).  This disorder acts in many ways like a cancer, and does not present itself until teenage years or even adulthood.  There is treatment, and if Adelyn does in fact have this disorder, early intervention could be lifesaving.  This is in no way related to her white matter or current symptoms, but rather a hidden blessing in her genome sequencing that we could have otherwise failed to identify until too late when she got older and sick.  Adelyn is having blood work done and we will know in about a month or two if she has this disorder.

They did not, however, find ANY genetic mutations related to known leukodystrophy types.  Praise God!  This is amazing news.  It is still possible that she has an unknown leukodystrophy and the only way we will know that now is by watching whether her white matter in MRIs improves (not leukodystrophy) or worsens (leukodystrophy).  But to NOT find something is the best possible news, the best possible HOPE we could have been given.  Her odds of having leukodystrophy just dropped significantly - by 90% or more.  Chances are in her favor of the brain damage being something else altogether (one likely example would be a virus while I was pregnant). We have an MRI scheduled at the end of this month to see how her brain is developing, and will continue to have them periodically over the next several years.

My heart swelled so big it filled my chest and throat and then the tears started flowing freely again.  They handed me a tissue box and the neurologist, with her calm and reassuring demeanor, attempted to explain again, "This is GOOD news.  I know we didn't find the reason for her symptoms yet, but we consider this to be very, very good, and I promise we'll keep searching for answers for you."

I shook my head, and then nodded.  I swallowed and tried to find my voice, because what I needed to say was important.  "I know," I croaked out, "I know it's good and that's not why I'm crying.  I'm crying because I am so grateful to you.  For what you do.  We are so, so appreciative to you.  Your expertise, your knowledge, your passion for this field so that you can help families like us."  The words sounded so silly and far too insignificant in my ears as they came out.  How can I convey to this woman the magnitude of what I feel for her?  To her, we are one of hundreds of patients she sees.  I know she cares because she is passionate about her specialty, but nonetheless, we are one of many.  But to us - and I know to all the other families who see her - she is everything.  I joked to Mike later that what I really wanted to do was whisper "I love you" to her, but she might have gotten a restraining order.

Instead, I let the words I had already said suffice as she smiled and continued on.  I'm not sure if she knows how much she means to her patients.  I hope so, but the words don't exist for gratitude of this depth.

For now, we move forward with a sense of relief and renewed optimism.  If you are continuing to pray for us, we'd love to request these prayers:

~Pray for Adelyn to continue to make developmental progress
~Pray for positive results from her MRI at the end of this month
~Say a prayer of thanks for Adelyn's team of expert specialists, specifically Dr. Adeline Vanderver

I shall not die,

But live and declare the works of the Lord

--Psalm 118:17

Hallelujah! Hallelujah! Praise God, Hallelujah!

Our Debt

I'm now connected with several families of children with leukodystrophy. In conversations with them, I had heard several of them talk about improvements as a result of chiropractic care. With a new mission in mind, I began seeking to learn more and found that our insurance doesn't cover chiropractic in any situations.  For a few weeks I was disheartened, and wished we could at least TRY chiropractic, but at full price that simply wasn't realistically going to happen.

But then I remembered that over at the Deal house we keep knocking on closed doors until they open, and so with knowledge that this had helped not only delay regression, but also made improvements in other children with leukodystrophy, I began researching chiropractors certified in pediatric care in the area. I came across United Wellness in Herndon with phenomenal reviews (because if we're going to look into any addition to Adelyn's care, it's also got to be the best! ;). I shared Adelyn's story with them and agreed to meet in person to talk more.

I walked nervously into the building holding the most precious thing I own, and found that I was meeting with the director, a chiropractor, and an acupuncturist. They asked me questions about Adelyn, and allowed me to talk openly about her condition and symptoms, and my goals for her being there.

Then they told me they had spoken with the owner, and he had already decided they would provide comprehensive care for Adelyn completely free of charge - not only chiropractic, but infant acupuncture as well.  Her story had touched them and they wanted to be a part of her care team in continuing to support her and open doors of possibility.

The number of people we will be forever indebted to seems to grow exponentially each day, and we are floored by the love, kindness, and compassion we have been shown. I've never been more grateful for a growing debt, because this sweet girl is worth every thank you I'll never be able to repay.

 

Our happy little fighter 

CHOP Update

After a fretful night with several unusual wake-ups for Adelyn - because who doesn't like a good hotel party? - we headed to CHOP (Children's Hospital of Philadelphia) bright and early on Thursday morning feeling excited, nervous, optimistic, anxious.

We've heard so many amazing things about CHOP, and I have to say, they absolutely lived up to their reputation during this first visit.  Every single person we met with was both incredibly knowledgable and personable, and made us feel like we were their most important patient.

Dr. Vanderver (the #1 leukodystrophy doctor in the nation and the reason we went to CHOP) is nothing short of phenomenal.  She explained that myelin (the stuff that makes up our white matter in the brain - it's like the insulation on the wiring of your brain) is not fully developed in humans at birth.  That's why other animals can get up and walk within a few hours, and human babies cannot.  In fact, our white matter continues to develop until we are 25 years old.

In Adelyn's case, there is a distinct abnormality in the development of her white matter.  However, because she is so young, it is rather difficult to diagnose - babies just have so little myelin as it is.  So, she felt that it was really too early for our initial hospital to diagnose leukodystrophy conclusively.  With only one MRI at only 4 months old, it is hard to tell if it is DEmyelination, or delayed myelination.  The doors basically opened to a lot more possibilities of what Adelyn's disorder could be, although our primary focus does continue to be leukodystrophy.

She feels that the type of disorder we should focus on right now is a leukodystrophy called Aicardi-Gouitieres Syndrome (AGS).  They did a spinal tap on Adelyn to measure a wide range of diagnostic information for a variety of disorders, some of which will tell us whether we are going in the right direction with AGS, or if we should move on and keep looking at other possibilities.

A spinal tap is similar to an epidural, and since they use local anesthetic, isn't very painful.  However, it's important to be very still for the procedure, so they have to hold babies down.  They asked us to leave for the spinal tap because babies typically become very upset, and it's harder with parents worried in the room.  We came back 20 minutes later and they told us she was one of their very best patients and that she hardly cried until they started to put her onesie back on -- she's not a big fan of getting changed! ;)

Several of the non-leukodystrophy conditions we could be looking at ARE, in fact, treatable.  It's important to note that treatable is very different from curable, but would be an incredible blessing.  AGS also currently has a clinical trial for an experimental treatment medication going on right now.  The results of our spinal tap (expected in 2-3 weeks) will tell us whether we should continue on in the direction of figuring out whether Adelyn could qualify for this treatment study.

We also saw a wide range of specialists: nutritionist, therapists, speech/language pathologists, resource specialists - who gave us a lot of helpful information on ways we can best support Adelyn's development.  We were there from 8:15am - 5pm with very little downtime, and it was SO good to just be surrounded by a team of people who cared as much about finding a diagnosis and helping Adelyn as we do.

Okay, I know I'm a long-winded writer, so here is what we need you to pray for, and it's okay if you just skimmed the nitty-gritty above:  :)

1. Pray for a speedy diagnosis.
2. Pray for a treatable disorder.
3. Pray that we reach our fundraising goal for a service dog quickly so that we can get on the waiting list to get our pup (and prayers work even better of course when they come with action - please share our story and fundraising link with others! https://www.plumfund.com/pet-fund/adelynstribe-4-paws-4-adelyn).

I just don't even know how to put into words how grateful we are for all of you.  We are touched that so many people care about Adelyn.  We believe your prayers are truly making miracles happen.  We love our tribe deeply.

Our strong little girl is ready to take on whatever comes next!

4 Paws 4 Adelyn

We are so grateful for everyone who has been praying for Adelyn since her brain disorder diagnosis at the end of January. Your prayers are helping us move mountains, and in our darkest hours you shine God's light so bright that it is impossible for us to forget He is with us every step of the way! 

"For truly, I say to you, if you have faith like a grain of mustard seed, you will say to this mountain, 'Move from here to there,' and it will move, and nothing will be impossible for you." Matthew 17:20

We were recently blessed with the acceptance of our service dog application - this dog will be specially trained for Adelyn from its birth to be able to detect seizures and alert us when they happen (we always worry we will miss one while she sleeps, when they happen most often), assist her with motor skills (balance for walking, retrieving objects), and provide guidance assistance (Adelyn's brain disorder also affects the optical part of her brain, making it difficult for her to process what she is seeing and thus functioning as a visually impaired person even though her eyes are healthy). This service dog will be life-changing for her and for our whole family. 

Of course, the training that goes into a service dog does have cost associated with it. A well-trained dog from a reputable organization costs between $30,000-$60,000 (1-2 years of food, shelter, vet services, and trainer's salary). 4Paws for Ability covers a large portion of that cost, but asks families to participate in their own fundraising, and raise $17,000 towards the cost of the service dog.

Anything you can contribute towards this goal will be so incredibly appreciated. Click here to view our fundraising site!

Please read more about the organization we are using here. 

Whether you can make a donation, or simply offer us up in prayer, we are so grateful to each one of you for caring and for being part of Adelyn's Tribe!

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."

We'll Get Through This Together

Where do I begin? How does a mom write this kind of post? We've been able to fill most of our friends and family in at this point, but I guess I'll start with the story of what got us here...

A few weeks ago, Adelyn had a brief "twitching"episode - maybe 5 seconds - when waking from a nap. About a week later, another. A week later, and one more. We knew it was odd and immediately started Googling information on the topic -- it seemed to fit the description of something similar to the hiccups; harmless. I brought it up at her 4 month well-check though, just to be sure. The pediatrician agreed it was likely nothing to get worked up about, but wanted us to follow up with a neurologist to rule out anything more serious. We had an appointment scheduled for Tuesday. On Sunday, she had another "episode" in the morning. This one lasted much longer (1-1.5 minutes) and was more intense. Something wasn't right. I realized how glad I was that we had made the neurology appointment, and was even able to get a video, so I felt good that the video would be able to help with a diagnosis. That night, we put Adelyn to bed. I happened to glance down at the monitor after she had fallen asleep and see that it was happening again - this time there was no question it was a seizure. We threw some clothes in a bag in case we got admitted overnight and headed to the hospital.

We spent 4 nights and 5 miserable days there. Our poor baby was hooked up to a 48-hour EEG to monitor her brain activity. The "pack" holding the wires was so heavy she couldn't hold her head up without support. We met nurses, and techs, and pediatricians, and neurologists, and an ophthalmologist, and the list could probably go on. Initially, the EEG results were coming back okay. On Wednesday, we had her MRI. She had to be put under for it so that they could make sure she would stay still. That evening, the pediatrician came by and said he had some bad news. The MRI was abnormal. He started talking about white matter and myelin, and getting services to help her, and I had no idea what it meant, but we started to realize... this isn't good.

The next day they told us the geneticist would be in soon to talk with us -- I was confused and my heart was beating in my chest, but I kept my cool. Okay, the geneticist, sure, we'll talk with her. We're good. We're cool. They have to cover their bases right? I'm not sure what bases those are - a geneticist??? - but it's fine. She's fine. She's totally fine.

White matter. Leukodystrophy. Tell us your family history. Running tests. Bloodwork will be sent off. Laboratory. Any questions?

Um, no. We're good.

And then they left and we were ready to turn to Google. What was that word she used? Luca? Luko? Ah - I found it! Leukodystrophy - white matter, yes that's it!

Leukodystrophy is a group of rare genetic disorders that affect the white matter of the brain. It is progressive, and the patient will worsen over time. Physical and intellectual abilities will deteriorate. The rate at which this happens depends on the specific disorder within the broad category of leukodystrophy. This disease is fatal. When symptoms present themselves in infancy, that is typically because it is a more severe form. For children diagnosed before they are a year old, average life expectancy is 2-8 years.

Thank God Adelyn is asleep right now. I'm crying, sobbing. Mike is crying. We're holding each other. I'm just so glad she's asleep, because she shouldn't see her parents like this. This isn't US. Not OUR baby. It's surreal. And so real.

When you hear someone else's story like this, you always say, "I just can't even imagine how you must feel." But really, you sort of can, can't you? I know I used to, before it was me. Such a deep, unfathomable pain it takes your breath away. What you're imagining, it's pretty close to what it is. Here's the only part you're missing, or the part I was missing anyway when I used to think I couldn't imagine what it would feel like: I had no idea how much the joy would hurt. The sadness, the pain of hearing your child has a terminal condition, that part I knew would hurt. But when Adelyn giggles and makes me laugh at her silly coos, it shatters my heart into a million tiny pieces that I'm constantly having to glue back together so that I can keep giving her my whole heart, no matter how many times it keeps breaking. Because she deserves to have all of me for as long as I can give myself to her - she'll never know my heart breaks for her, she'll never know how many times I've glued myself back together. She'll only know that I'm here, and I love her, and I will make myself whole for her. We will keep giggling and laughing and playing.

I kept asking Mike when we first got the news, "How are we going to do this?" But we really both already knew the answer. You just do it. There's no how. We may not always LIKE the hand we're dealt, but we can DO it.

There is something that has given me so much comfort over the last week. I believe - and have always believed - that God hand picks babies for their mommies. Even people who don't have a good relationship with their parents, I really believe that God had a purpose in putting them together, that they needed each other in some way they may not even ever understand.

"Before I formed you in the womb I knew you, before you were born I set you apart..." (Jeremiah 1:5).

And so all I can think, over and over again, is that God had this beautiful, delicate soul. He loved her so very, very much, and He needed someone to take extra special care of her. He knew it would be hard, and so He searched and searched, and out of all the billions of people in the world, He chose Mike and me to be Adelyn's mommy and daddy. I know that she belongs to Him more than she even belongs to me, and I am so honored that He chose us. I used to thank God for her every night in my prayers, "Thank you for a happy, healthy baby." Now, my prayer is, "Thank you for Adelyn. Please help her to be healthy and strong. Thank You for sharing her with us, for choosing us. I promise we will take good care of her, we won't let You down. I know we can do it, with Your help."

And it's not just us that He chose. God chose a support network so strong for Adelyn that I have been blown away by YOU. The calls, texts, Facebook messages, visits, flowers, fruit, meals, delivered groceries and pantry items, cookies, meal delivery kit services, matching mommy and me leggings, gift cards, blankets, toys, rosaries, coffee, donuts, cleaning service... I'm sure there's more I'm missing here too- I'm crying writing this, because it has been SO much. You are pouring your love all over us and it is so good and so healing. When I had to tell my dad the news of her diagnosis, he started crying, and through his tears he just kept saying, "Okay, baby doll, okay. We're going to do this together. We're a family and we're doing it together." All of you - every kind thought and prayer sent our way - I just keep hearing, "We'll get through this together."

Psalm 56:8 says, "You keep track of all my sorrows. You have collected all my tears in Your bottle. You have recorded each one in Your book." I know so many of you have shed tears for us, with us. Your tears are just as real and raw as our own. And God is collecting them all. Every tear drop is a silent prayer falling down your cheek, and we can't thank you enough. Our tribe is big and beautiful, and our baby girl is surrounded by so much love. We'll get through this together. And I hope you never have to go through anything quite like this, but when life throws you a hardship, I hope you know that we'll be with you and we'll get through that together too.

In the ER

Moved to a room and admitted as in-patient

IV all hooked up

Our happy girl even with all the poking

Hooked up to her 48 hour EEG to monitor brain activity

Hugs from Grandma 

Smiling with Pepaw - the wire "pack" is so heavy it's hard to hold her head up! 

Poor sleepy baby after anesthesia for the MRI 

And best of all - so happy to be back HOME

I know so many of you love us and are praying for us and want to know how she's doing. I will try to post periodically with updates. As of right now: 

1. We are awaiting further blood test results being run by a geneticist in hopes of getting a specific diagnosis for the type of Leukodystrophy Adelyn has (please pray for results, as about 50% of leukodystrophies are never able to be diagnosed, and a lot rides on that information). We should get this information in a week or two.

2. Adelyn will begin physical and occupational therapy to help her meet milestones and in hopes of slowing future deterioration of physical/motor development.

3. She has a follow up neurology appointment in a few weeks (once blood work from the geneticist comes in) to discuss next steps.