FALLING - Into Milestones, Movements and a Possible Cure

Fall in Cape Cod 2019

Fall is upon us, and with the cooler temps come special birthdays and fun events, adding up to a whirlwind of a season.  At this moment, I'm truly grateful for life - for being alive, for the ability to breathe in the crisp air and drink in the smells of my family and nature (can I get a 'whoop' for those yummy fall candles from Bath and Body Works?1?).  This time of year always brings deep emotions, as we are so close to the Eve of Ellie Kate's Month of Reckless Love, coming up in December. The Fall of 2019 is bringing BIG and exciting things - REALLY and TRULY, BIG and possibly life-changing things are happening all around us, unfolding before us.  I yearn deeply for the Lord to allow me to take it all in, to make me a good steward of my time, my giftings, and my resources, where all of these big things are concerned, things I will share with you today.

LUCY BELLE:
Lucy turned EIGHT at the end of September.  She's breathed the earth's air for EIGHT entire years and it's effected both Mike and I in different ways.  Ellie Kate just turned seven, before passing away in December 2012.  Ellie never turned eight years old and yet, here we are with Lucy.  It is MIRACULOUS to me - a wonder and gift beyond comparison - especially since, just two years ago, Lucy was going downhill so quickly, we truly thought it would be her last birthday on earth.  At that time, she was on hospice and we couldn't get her healthy.  We couldn't get her to 40lbs, even at age six, despite our best efforts and medical orders.

Lucy is EIGHT! 

While Lucy is still on Palliative Care, she is no longer considered a "Hospice Patient".  There is new life in her eyes, new energy, a happiness and glee we've never seen in Our Girl before!  She's back to doing what she did before hospice.  For Mike though, it's been incredibly difficult, realizing Lucy is now older than EKM ever was.  It's hard to reason it out, hard to fathom it all - how can you really wrap your mind and heart around the cold truths and heavy loss, even the losses to come?

CONNER MICHAEL:
Conner, our eldest child, is now 16 YEARS OLD!  From the beginning, everyone warned us, "The days are long, but the years are short!" - oh, how true that now rings!   Last weekend, we celebrated Conner with eight of his closest friends.  The boys spent the night (some for a few nights), and I was encouraged by how respectful and helpful they were.  They've come a long way from leaving ice cream cartons and pizza boxes around the house overnight, and we didn't have to remind them to go to bed or be quiet - WOW.  Conner is going through driving school and will soon get his permit.  We are happy to take things a little more slowly with him, making sure he is as safe as possible, while also giving him the independence he needs as a typical teen, as well as a teen who's faced such heaviness at an early age.  Being truthful: it's hard not to be overprotective in every way.

Conner is Sweet 16:)!!

Mike and I beam with joy over Conner's life!  He is so kind and thoughtful, intellectual like his Daddy with tendencies toward mercy and grace, like me.  He loves current events, specifically political ones, and stays abreast of all current affairs.  Conner is a fabulous artist, natural athlete and a fantastic big brother to all of his siblings.  I love how Conner seamlessly pushes Lucy's wheelchair around the mall and quickly gets her out of the car for me in the afternoons, without me even asking.  He dotes on Bowen Jane and stays in awe of all she can do, as a "typical" little girl.  Conner is patient with Henry.  Mike and I have no doubt, Conner's design, his God-given character and spiritual giftings, are matched perfectly with his siblings.  He is patient and kind, doesn't anger easily, does not expect perfection from himself or others, and is quick to listen to his siblings, no matter what they may be focused on.  I'm forever grateful to God for my Precious, First Born.

ELLIE KATE'S WISH:

Each December, we partner with NKH Crusaders by granting "wishes" to fellow families within the NKH Community.  Parents may write letters, explaining their need for medical equipment or specialized toy, not covered by insurance.  They request something the child truly needs or something which would add significant value or safety to their life.  We like to grant as many wishes as possible each year in Ellie Kate's name, but the number of families we help depends upon the funds we are able to raise for this project.  My HOPE is to do an online auction of items donated by you  - pieces from artists, services provided, home-based business products, hand-made jewelry, homemade holiday breads or pies, even donated gift cards!  We like for wishes to be granted in DECEMBER, Ellie Kate's Month of Reckless Love, so we will be working on collecting all funds and items from now through December 4th.

If you have any knowledge or experience with online auctions OR if you have items you would like to donate, please contact me via email at tullyryan@hotmail.com.  If you are a business who would like to support these efforts, providing an important need to a fellow NKH family from around the world, please contact me as well, and we will get a plan in place!  

THE WORLD OF NKH:

NKH is an EVIL disease, and up until recently, we were led to believe NKH would not, could not be cured or lessened in severity, no matter what.  HOWEVER, because of recent strides in research by both doctors at Colorado Children's Hospital AND Notre Dame, we have NEW HOPE that a cure/treatment IS possible, and that it is possible IN OUR LIFETIME!  Stem Cell research has taken off in all arenas and those studying this disease have tirelessly been working on how this can/could/will benefit those diagnosed with NKH.  There are labs with mice and fully, capable staff members working at both locations, as well as a doctor and lab in the UK.

Recently, I returned from the International NKH Medical Conference in Boston, where I received the latest news on NKH research.  I received a grant to attend the event through the Isaiah Stone Foundation, otherwise, I wouldn't have been able to attend.  I'm incredibly grateful for ALL of those who helped with hotel details and additional funds.  I'm even more grateful for those who cared for my precious kiddos.  It's not an easy gig, ya'll.  It's a tough job, so we can't really hire babysitters because of the situations we face from both NKH (Lucy) and PANDAS (Henry).  Mike and My Parents were valiant warriors, sacrificing all of themselves so that I could go and not only HEAR the newest information shared, but also have the opportunity to meet privately with each set of doctors, going over my family's specific mutations.  I'm still processing it all. 

A few of my Fellow NKH Mommas 

NKH Fundraiser 2019, Weymouth, MA

Did you know? Families are the MAIN resource of NKH research funds, due to the rarity of this disease.  In 2007, at the first NKH Conference Mike and I attended, that fact seemed impossible.  NOW - now, we are closer than ever, on the verge of possible medical trials!  It is a heavy responsibility to bear, raising the hundreds of thousands of dollars needed to "secure the cure" and yet, the ultimate goal will be so worth it.  I'm still trying to process this, as well - trying to wrap my mind around the magnitude of what could be and what could change.

On an official level, Mike and I have never raised funds for NKH research, but that will change in the coming months.  We want to give HOPE and the possibility of a CURE to those who come behind us. Could this research and treatment affect Lucy?  YES!  It absolutely could - we will just have to wait and see for a bit.  Who it will definitely help, are newborns diagnosed with this disease - the hope is to use what is researched, to ultimately STOP NKH progression, from the very beginning.  I WANT to give that hope to someone else.  Who knows?  This research could benefit those in our own family tree, since NKH mutations run on both sides.

If you or your business would like to help us "Secure the Cure" for NKH,
 please contact me anytime.  
We would love to partner with both individuals AND companies, 
especially with our 501c3 status and 
the possibility of your gift being a tax write-off, individually or corporately.  

The Faces of NKH - from all parts of the globe, those we've lost and 

those who are still with us today; we fight for you!

Oh, Friends, 

Thank you for your continued prayers and encouragement.  I often find myself forgetting to respond to messages, or failing to follow up with friends with whom I have the best of intentions.  The only thing I can say is, parenting intense, medical and special needs, as well as extreme behavioral/mental health needs, is most often all-consuming. It takes ALL of me, everything Iam, just to do it, and it taxes me mentally, spiritually, physically, and emotionally in ways I don't fully understand or even recognize. This week, I found out my stomach and intestines are full of ulcers - the stress of life doesn't help, for sure. I am thankful for the JOY, which DOES come along in the journey - a supernatural joy, which God brings every single day, no matter how dark it might be. Even in loss.  Even with stress.  Even with seven stomach ulcers.  

I long for an easier season, a lighter daily routine for my entire family; I'm trusting the Father to orchestrate it as He will most be glorified, while also asking for mercy over my children.  I appreciate your understanding throughout the MANY seasons of our journey.  I look forward to hearing from those who can help with the auction, Ellie Kate's Wish and even fundraising for research!

In His Time,
Ryan

MORE ON NKH: 
Non-ketotic Hyperglycinimia (NKH) or Glycine Ecephalopathy, is the rare genetic disease, both Ellie Kate and Lucy were born with.  Researches have found that these individuals make too much glycine, which collects at the base of their brain, causing extreme damage in every possible area of the body and mind. Most children born with NKH are diagnosed with the "Severe" form of the disease, as were Our Girls.  Most children with Severe NKH do not walk, talk or eat by mouth.  Many of them have had tracheotomies; some cannot breathe on their own.  Our children with NKH are bombarded with severe epilepsy - most NKH kids are on at least 3-4 anti-seizure drugs, but continue to have seizure activity because of the damage done by the extra glycine.  Some children have hundreds of seizures a day, seizing every few minutes, every hour, every single day.  This especially happens when our children fall ill, which also happens often, as NKH seems to somehow lower the immune sytsem.  We know this is true for Ellie and Lucy, as they've faced ecoli, continuous c-diff, MRSA, cellulitis and more.  We also know, NKH causes every body function, to MIS-FUNCTION.  This is seen in Ellie Kate's gut issues and how her gut eventually shut down before she died.  It's seen in Lucy with the need of her vesicostomy, due to recurring UTI's, which occurred because Lucy cannot urinate properly on her own.


In 2007Mike and I traveled with a baby Ellie Kate at that time, not knowing just how much our world would change upon meeting families like ours.  Being surrounded by families with older children at that conference was HUGE for us; it gave us hope, when the medical community told us not to "expect much" from Ellie Kate, warning us her life would likely not exceed three years.  While that is still a likely outcome for many, because of medical advances, more children with NKH are living longer , which means more children NEED A CURE AND A HOPE.  We hope you'll join our cause! If you want to jump in early and help, please donate at the following: https://www.nkhcrusaders.com/donate