The Pain of Love & Hope for a Cure

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Wondering if I was EVER going to start writing?  Me too.

After uploading pics from this past weekend’s NBIA Conference, my eyes were caught.  Well, maybe more my heart than my eyes.  Scrolling through the files to get to the newer pics, there was….. the past. Scrolling, scrolling, scrolling and suddenly I could not hold back the tears.  Our Isabel. Oh how I love you child.

We have so many photos of Isabel because her wonderful speech therapist had us make a communication book that went back and forth to school each day, with photos of what she had done at both home and school.  The book was to help her practice language skills, and was an exceptional tool for helping exercise using memory, making connections in her brain.  (good for building neuroconnections)

I look at where our Isabel has been in recent years and the sweetness of her joy still captivates my entire being.   I find myself smiling right along side her in some of these shots!  It is also a short synapse to sorrow that threatens to overcome all that is sweet, looming like a dark cloud silently approaching from the distance, ready to darken all that is joy filled.  How does life go from joy to sorrow?

Our Jennifer has a diagnosis of Down Syndrome, this is the disability that she lives with for all of life.  Of course we all work to help Jen to become the very best person she can be!!!

Isabel is different.

Isabel has a disease.  One child lives with a disability, the other has a disease.

The difference is mind boggling.

After many years without answers, Isabel was diagnosed with what is called NBIA.

There are different forms of NBIA Disorders, short for Neurodegeneration with Brain Iron Accumulation.

NBIA is a disease.  Isabel has NBIA – Type BPAN.

This disease has a progression.

Quite an ugly one if you ask me.

The progression?

Degenerative.

As a parent, we have had other “diagnosis” for some of our other children.  Some pretty hard to hear.  We somehow, with the help of loving friends and family, with the grace of God, have always been able to rise to the challenge.

This one? This NBIA?

Leaves all other diagnoses in the dust.

The devastation in my mother heart can at times leave me breathless.  Breathless, and calling out to heaven for strength.  Our Isabel?   She has had global developmental delays from birth.  She has epilepsy, and takes medication for it daily.  What to expect when the degenerative part of this disease starts?  First, she will lose the ability to walk.  Then she will lose the ability to talk. She will have Parkinsonism and Dystonia.  We are told medications will help for a few years, but after that not.  We are told she will even lose her joy.  She will eventually also lose the ability to eat; and lastly, she will lose the ability to breathe……

For people who have Type BPAN, the onset of regression is anywhere from mid teens to young adulthood.

With my extremely limited knowledge it seems that patients who have NBIA of other types, have normal intelligence, but with earlier onset of the devastating regression with children dying while they are still young.

There is no known cause.  There is no cure.

Yet.

Here.

Here is WHY the NBIA Conference last weekend in Minneapolis was SO incredibly GREAT.

GREAT SCIENCE

GREAT SOULS

GREAT DOCTORS

GREAT SCIENTISTS

GREAT FAMILIES

BEAUTIFUL CHILDREN

GREAT COMMUNITY

GREAT OPPORTUNITY

GREAT INSPIRATION

GREAT COURAGE

GREAT DEDICATION

GREAT EDUCATION

GREAT SUPPORT

GREAT SORROW

GREAT JOY

GREAT NEWS.

GREAT HOPE

                      YES, H-O-P-E!!

Ultimately, the truth is the NBIA Conference was an incredible gift for us.

Overall, almost all my photos are so bad, I cannot even use them.  I need to work on getting a good camera and lap top so I can write on the go.  Nonetheless, I want to share so many moments from a weekend that was life changing in so many ways.

After working out many schedules, confirming who would be watching whom while I was gone, we could leave home knowing all our peeps would be in great hands with Dad, Maggie, Sam and Xavier!  We packed and readied for our road trip to Minneapolis!  It was the very first time baby Evelyn waved “Good-Bye”!

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We drove away from home.

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We left behind the diagnosis of a disease so rare that it quickly isolates.

We walked forward with much silence and prayer tucked into our hearts as food for the journey.

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We entered into the invitation to see how such a devastating disease possesses a mysterious gift, a beauty, so real yet invisible ~ in the midst of painful uncertainty.

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We miraculously drove over 4 hours before making our first stop.  For Isabel, this was just incredible.  Once she fell asleep, I knew we needed to keep driving!

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As evening approached, excitement and nervousness grew.  Almost to our destination…….

At last, after 6 hours of driving, four Donnelly sleepyheads arrived at the Embassy Suites in Minneapolis!

This was our very first NBIA Conference.

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One thing I have always appreciated about exhaustion?  Instant sleep!  I think we checked-in, unpacked and were in dreamland within 45 minutes or less!

Well, that is after the girls convinced me of their very first discovery that we were on a hotel floor that offered the magic of FREE vending!  No way!  Yes way!!  Oh my word, Bernadette and Agnes were in Charlie and the Chocolate Factory heaven!

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Morning came fast.

Agnes and Bern were going to take care of Isabel while I headed down for the start of the conference.

Have to tell you, I am a total introvert (stop laughing).  So to leave the hotel room alone, and look at this?

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Made my knees shake!

Breathe.

Ok, Blessed Mother, you lead.  I’ll hold your hand.

Breathe.  Maureen, remember to smile.

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Funny how you can feel like the new kid at school!  I have to admit it makes me so uncomfortable to walk into a new situation all by myself!  Total Yuk!  Totally out of my comfort zone is an understatement.

I quickly found my way to the back of the room and an open seat for the Keynote Speaker.  How does one describe the miraculousness (is that a word? Ha!) of entering into a world where you are suddenly NOT a stranger at all, but a long awaited guest?

Dr. Joel Carter

He was telling of an expedition in Antartica.  What?  I instantly started taking photos of his powerpoint because I could not process the fact that he was talking of something that seemed so off topic to me.

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He certainly had everyone’s undivided attention.  The room was stone quiet.

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Hmmmmmmm…….

Suddenly, the direction of what he was sharing became more apparent.

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Suddenly, the room became increasingly aware of the fact that Dr. Carter was addressing life.

Life.

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And that every life has a story.

There were the moments of his presentation that made us all laugh!

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He shared his experience traveling with his father ~ back to the scenes of the concentration camps where his grandparents had been put to death.

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And the rocks that were there.

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He came home and started spending time out in nature.  He would spend time out in the beauty and silence of nature, building rock formations that he soon started photographing.

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It is my guess that there was not a single heart in that room that wasn’t completely and entirely captive at the point that Dr. Carter spoke about the importance of the small and broken shards that were in his rock formations.

He had captured a sacred nuance of life.

He was speaking of the deepest mysteries of life.

He shared with us his observations over many, many rock formations. He said it was not the big, giant rocks that were most important.

He spoke of the smallest, most broken piece!  He started to see how the one that was most broken and small, the most insignificant……was so important.  That little shard so misshapen?   Often held up the entire structure, giving it stability.

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Dr. Carter spoke of how in one culture ~ if there is a precious vessel, and it cracks?  It is held in such high esteem, the crack is filled with gold, the vessel now considered more beautiful than ever.

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Geesh.  God sure is one mysterious fellow isn’t He?

As soon as Dr. Carter’s Keynote Address ended, I was going to check on the girls.  (because I sure wouldn’t want to embarrass myself by running across the room, knocking everyone down as I catapulted myself into a hug attack on Dr. Carter.  No. Do not act on that, Maureen.  Compose yourself.  Find the girls.  Hold in emotion, be calm.  Act normal.)  Suddenly, I heard someone call my name.  Walking towards me?  Such a sweet, gentle beautiful face.  A Momma face.  A face I recognized with joy.  We were instantly hugging, in tears, Katie and I.  We had been Facebook BPAN friends, now together, despite living thousands of miles apart.

What a moment of love.

Within minutes, I was hugging Meg, another beautiful BPAN mom.

The very next hug came as Katie and Meg introduced me to Mari, another gorgeous BPAN mom.

Caught up in a wonderful whirlwind of love and connectedness.

We oohed and ahhhed over our beautiful BPAN girls.

Honestly, there is nothing more healing than knowing.

Knowing.

Knowing you are not alone.

Four Mommas whose children have NBIA ~ Type BPAN

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❤ ❤ ❤ ❤

I did a quick check on the girls, and found their independence led them to the room of crafts and activities.  They had climbed the mountain of usual morning difficulties with Isabel ~ bath and toothbrushing (screaming and fits included). (Our sincerest apologies if any of you on the 8th floor were hoping to sleep in:)  So proud of my girls!  Their spirit of adventure brought them to the fun activity room right across from all the talks.

I knew I did’t need to worry.

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My sweet little freckle face, Bernadette showing me her art!

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“Climb with Courage.”

What saintly person picked that out?

Ok, moving on…..

More talks……

Scientists.

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So in over my head.

Took notes like crazy in the hopes that later, as I learned more, I would understand more.

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But as time went by, I realized it will take years, if ever I will understand the science of it all.

But, there did come talks that I understood only too well.

The need for research to find a cure.

It was gut wrenching to find out that Government funding for research for rare diseases is at an all time low.

Despite the fact that there is promising research for medications for our precious children.

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There is currently a Clinical Trial for NBIA Type PKAN patients and their families out in Oakland, California.

To get to Clinical Trials for BPAN kids?  They are still trying to raise the additional money needed to complete the Mouse Trials.

They have raised $27,000.

They need an additional $40,000 to fund the Mouse trials for BPAN.

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They really want families who are willing to enter Clinical Trials to get “Trial Ready”.

They desperately need funds to continue research.

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Everyone walking to the Saturday Picnic in the park!

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We were all spoiled with a delightful picnic lunch of hotdogs and burgers, delectable pasta salads and desserts courtesy of — are you ready for this?   Courtesy of a group of girlfriends of one of the local NBIA moms!

Then was a memorial service for all the children who have died of NBIA.  Sorry, I was so choked up, I didn’t get one picture.

 Beautiful paper doves were passed out among all of us.  Each dove had the name of a child on it.  We were all in a large circle around a tree of bare branches.  One-by-one, we took turns walking our “dove” to the tree, saying aloud the name of the child written on our dove, then hanging it on the tree.  Gosh, so many angels already in heaven…..

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Then it was back to the hotel for more talks.

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After a full day with talks and the picnic, after dinner was the Saturday night dance!  Well, easy to say that this was the part I knew Isabel would love the best!

And she did!

She was a dancing machine!

With the founder Mom of NBIA Foundation, Patty Woods!

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The dancing pic below?  Left every single person in the room speechless with joy!

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UH-OH!!  We think Isabel had her first boy crush on the DJ’s!!

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So we asked if we could get a pic after the party ended, and the lights went back on!

A moving shot was all we could get!

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On the last day of the conference, came the part I was looking forward to the most….

an early morning session with Dr. Susan Hayflick, meeting exclusively with the BPAN families.  She was available to answer any and all questions about our children and BPAN.

Throughout our first NBIA conference, I was increasingly in awe.  Never before had I experienced such an incredible organic whole.   Doctors, scientists AND families; all working in life giving, beautiful collaboration; working together with strong determination and clear organization to achieve a cure for the children who suffer from this horrible disease.

I know that for much of the conference, and during social activities, it became increasingly apparent that Dr. Hayflick was a woman of incredible compassion, spending all of her time in deep and meaningful interaction with the families who were at the conference.  Quite incredible to meet a doctor of such caring and true devotion to families and their children.IMG_9273 IMG_9280

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A very special Momma ~

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The time for good-byes came all too quickly.

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LOVE all the way from Belarus!

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So in love with these families!  So inspired by their love and devotion!

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Words.  Mere words could never possibly convey they mystery, the love, the reality of the unseen……

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Dylan and her loving Grandpa.

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And to think Isabel found a new friend who loves to horse around with play dough?

 SPEECHLESS……

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Yep, she smiled at me from across the room.

Be still my heart.

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We thought one way to help “Get the Word Out”?  Buy some t-shirts to give as gifts!

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Agnes helping to overcome my technological shortcomings!

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New friends ~ forever friends.

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As we packed our bags to head home, a singular thought ~ how do we help raise funds to help Dr. Hayflick and her team of researchers get to the Mouse studies for BPAN, so our children too can get to Clinical Trials?

As we left the hotel, all my notes, all that I had learned, was packed in that little purple bag….

how does one ever pack all the lessons of the heart?

IMPOSSIBLE.

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Sorry to say, I am still trying to figure out how to reach out to family and friends with ways to help find a cure.  If you would like, please feel free to check out these links!  And if you choose to donate, please to remember to tell them Isabel Donnelly sent you! A million thanks!

On Facebook:  NBIAcure

NBIAdisorders.org

Dr. Susan Hayflick

FDA gives new drug “Fast Track” approval! June 4, 2015

China releases paper announcing first BPAN Mouse, May 27, 2015

We hope many of you will be inspired to send funds and become part of the great goal to find a cure for NBIA!

With much love,

Isabel Donnelly

P.S.  The photo below?  Obviously taken by someone with a good camera!  It took my breath away as I just saw it on the Facebook page NBIAcure.  Whoever took it, thank you!  What a powerful photograph.  In this pic is Dr. Susan Hayflick hanging a dove for a child who has died from NBIA.  Standing opposite her, watching? Our Isabel, who is now 13 and has BPAN.  Isabel’s really quite a “people watcher”(quite a professional gawker actually), so in this pic, she’s just being herself and

I. LOVE. HER.

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In the end, this photograph says it all.  Because it brings me back to a beautiful truth a very holy priest reminded me of yesterday.  This is not our home.  And in heaven our children will be dancing, laughing and talking in a joy we cannot even begin to imagine.  So know, my sweetest Isabel, we will be by your side through every thing.   I pray that even in the darkest most painful moments God will give me the strength to keep my eyes on Heaven!

There we will be together again, and you will be whole and happy forever.

In the meantime, we were blessed to also visit my sister, Ellen and her beautiful family (they live 20 minutes from where the NBIA Conference was held!) for two days before heading home.  What fun!!

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Trip back to Chicago?  So happy to make a Thanksgiving stop at the Madison, Wisconsin Schoenstatt Shrine to the       Blessed Mother.

In thanksgiving for the gift of new friendships, compassionate doctors and researchers all around the world who are all working together to find a CURE for NBIA.

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Because I really want my girls to know.  No matter what difficulty they face in life.  In all joy, and in all sorrow, the truth is we are not alone.  God is with us in all things.   I see, and experience that even in the deepest sorrows, He blesses us still.

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His Fatherly care is all around.  At times I must remember to open the eyes of my heart to see all the blessings that are so real.

Especially when life takes us to Antartica.

Thank you, God!  For blessing us at our first NBIA Conference.  It was filled with so many blessings!

(Ha! Typing that?  I laugh to think that my girls would instantly say that the free vending machine on the 8th floor? They would quickly declare free chocolate bars the biggest miracle of all!)

Oh, the heart of child!

Please God, watch over us still, keep blessing us, and bless all our new NBIA family friends.  And please God, could you speed up giving Dr. Hayflick and her team the money they need to start the Mouse trials for BPAN?

Amen

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8 thoughts on “The Pain of Love & Hope for a Cure

  1. Absolutely beautiful Maureen. I feel so blessed that we met at the conference and I look forward to getting to know you and your amazing family very soon. Hugs, love and prayers to all of you. Let’s get together soon!!!! We have so much to talk about with our sweet girls! Would love to have your family over this summer- crazy we live so close with how rare BPAN is- we were destined to meet💛

    Liked by 1 person

    1. I could not believe it when I found out how close by we are!! And we are looking forward to getting to know all of you too! Yes, lets get together soon! Are you still reliving the conference? I sure am! It was really incredible! I am so very glad we went!

      Like

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