KirbyGram Winter 2020

KirbyGram Winter 2020

Dear Friends,

What a year…

For Brad and me, a year of firsts without our beloved Kirby. Never having more freedom, yet never more confined.  And throughout, there were those birthdays and holidays that challenged us to see past our sadness and find the “happy.”  Kirby’s legacy was perfectly clear and enabled us to do just that.

Now, in reflecting on our life with her, I find one constant that remains and has endured – hope.  As a friend and fellow parent, Jennifer Siedman described after learning of Kirby’s passing, ”Hope is a tricky word.  It is fluid.  Enduring when you know to look for it.  It is in your family’s hearts, even today.  Kirby put it there.  The future, tomorrow, other families’ hope is here because Kirby was.”

I believe that hope transcends all.  It is what lifts you and harnesses a whole new dimension of thought, filled with endless possibilities that are empowering. 

We need not look any further than the relentless hope of parents that has resonated with an alliance of donors, scientists and patient-focused biotech leaders, creating funding and inspiring resolve and innovative progress toward the community’s mission to eradicate Sanfilippo.

Our challenges have been many, and at times for some, seem endless.  I don’t know of a better time than now to dwell on hope – its meaning and commonality in all of our lives. Contained within these pages are stories of families across the world whose lives have been impacted by Sanfilippo. Their children’s faces define joy and hope in its most innocent and purest form. Whether they are able to hold their children in their arms or only in their hearts, their stories of hope inspire.  I hope you feel the same.

Brad and I wish you a happy and hope-filled holiday season.

Stories Of Hope

Sometimes hope has a face… has a name…

Andrew

Ben

Eliza

Inaki

Isla & Jude

Jessie

Jonah & Parents

Kimberly

Lucas

Matthew

Nathanael

Rhianna

Sydney

The Linton Family

Kirby

Their stories…

Although the years have been many, I have never forgotten the comfort Kirby’s face brought to Rob and me the day we found the Foundation on the Internet. When Andrew was being diagnosed and no one we knew had heard of MPS, your website and your angel brought us such comfort.  Our Andrew was not alone.

In the years since that moment, we had to say goodbye to Andrew when he passed away at age ten in 2005.  We also welcomed our son, Nathanael, and walked with him on his journey with MPS until he passed away in 2016 at age nine.   Ironically, I do not think I ever knew the true meaning of hope or joy until those two angels came into my life.  Before finding out Andrew had MPS, I was a busy person who thought a career and a perfect family was the thing for me.  I thank God everyday for all four of my sons – but especially Andrew and Nathanael – who took our family on a completely different journey.  A journey that is often hard to put words to because it changed all my values and taught me that the most important thing in life was not accomplishments or contributions, but moments.  Every single moment – the moments I spent cuddling, diapering, reading to, laughing with, comforting, playing with, spoon-feeding, wheelchair-transferring, bathing, and taking my boys out to enjoy their community – those were the most meaningful moments of my entire life.

I spread more joy and hope now than I did before I met them because through them and our family’s MPS journey, I finally learned the meaning of life and the value of every moment we are given on earth.  I could have four healthy, living sons today, and there was a time when I would have made a deal with the devil to make that dream a reality.  Yet because of Andrew and Nathanael, I now completely understand why it happened the way it did.  I still hear from people of all ages who spent time with our angels, and every one of their lives is different because of it.

We need to cure MPS not only because everyone deserves a long and pain-free life, but because these angels need to be on earth longer to teach the rest of us.

Wendy Coffey-Slattery

West Little Rock, Arkansas

Matthew is 20 years old with Sanfilippo B and is in his last year of high school. He has brought a tremendous amount of love to all his family, friends, teachers, aides, and random people that are lucky enough to get a big Matthew bear hug upon meeting him.

I have watched him gain skills as a young boy and experienced his playful, loving, mischievous and joyful personality.  I have watched him lose all his verbal and cognitive skills, but his loving joyful nature has always remained.  No matter what the day brings for Matthew, whether it be seizures, sickness or other complications of Sanfilippo Syndrome, he is still smiling through it all.  He loves balls, books, balloons and swimming and is happy to just hang out with us.

We hope for many more good years for Matthew and feel blessed that he came into our lives.

Kathy Buckley

Saratoga Springs, New York

How does one continue to hope when what you hoped and prayed for for so long is no longer a possibility?  It is a daily struggle, but hope continues to give us the strength to see the possibilities and experiences that await us in life.   Sydney’s memory is what gives us the strength to continue to hope.  She was all about life.

Sydney was an absolutely joyous spirit.  Her smile and laughter were infectious. She literally laughed, sang and danced her way through life.  Our home was filled with the sounds of laughter, chatter and music.  She also was so strong and unbelievably compassionate for someone so young.   She never complained about her declining health.  She had a sixth sense about other people.  She would be the first one to notice if someone else was sad or in pain.  She would go and try to comfort them with hugs or words.  It was always so unbelievable how she just knew.  So many times we would find her trying to “mother” someone who was sad or hurt.

Her life was an incredible journey filled with joy, laughter, pain, sorrow and hope.  We felt like we were in combat for 20 years and our foe was Sanfilippo Syndrome and Sydney was its hostage.  Despite this, we would never take back a moment.  Sydney was here for a purpose and that was to show us what unconditional love is and what true inner beauty and strength look like.  The world is better place because of the laughter and love she shared with all.

We continue to hope for a cure. We continue to hope that other families have the strength and support they need to fight the battle.  We continue to hope that everyone enjoys every day and the possibilities that each day brings.  Most importantly, we hope that Sydney’s courage and strength encouraged others to be brave and to live life to its fullest.

“Do not think we know our own strength until we see how strong our love makes us.”—Leigh Standley

Theresa Moff

Williamsport, Pennsylvania

Eliza, that’s her. That’s my girl. Lover of Dora the Explorer, Peppa Pig and a day at the beach. Her smile lights up my heart. There is not much her dad, brother and I won’t do to try and conjure that magic. I’m sure we look like goofballs from the outside, but that’s ok. Our children with Sanfilippo have a special way of grounding us to the here and now.

While this is a disease of perpetual trauma with the loss of child after child, we take hope in what lies ahead. We are comforted by a community drawn to action that continues working to change the future. We are ever thankful to the Wilsons and Kirby for their decades of work and inspiration.

Cara O’Neill

Columbia, South Carolina

Our Kimberly was truly an angel sent to fill our hearts with love and to teach us many lifelong lessons.  Kim was such a happy, jubilant little girl.  She had the spirit of Pippy Longstocking, the sweetness of Grover from Sesame Street, and the happy-go-lucky manner of Tigger. Upon meeting Tigger at Disney World (one of her favorite Disney characters), she became shy.  When Tigger walked away from us, she smiled broadly and laughed and laughed.

When Kim was diagnosed with Sanfilippo (not until the age of eight), we were unsure of what was ahead of us.  We experienced the many facets of the disorder during her life and were told to hope for treatments and programs to support her.  We tried to be prepared for each phase; all the while, she was teaching us patience and gratitude and enriching our understanding of special needs children and the special needs community.  Because of Kimberly, two of her babysitters have become special education teachers and told us that they attributed their desires for this profession to her.  She enriched and blessed our lives for 26 years.

Dear Sanfilippo families, we see you and honor you.  It was not easy, but we learned to live in the moment.  Tomorrow, next week and next year didn’t matter right then; we had to appreciate all the time we had.  Let your hopes not your hurts direct your future.  It’s been said that hope is love on a mission, and even in this turmoil of 2020, remember, “Hope is not cancelled.”  The work that The Children’s Medical Research Foundation and other families’ foundations are doing can give us all hope.  We salute you and send you our hope for your children.

Betsy Fowler

Shelby Township, Michigan

Iñaki’s eyes radiate life, goodness, tenderness. He knows no bad feelings and finds much satisfaction in comforting people, especially if they are children, and he always makes sure that everyone around him knows how much he loves them.

My son is, above all, a child full of light. I was not able to conceive, but God blessed me with just one chance of getting pregnant. Iñaki was born in 2010 after fertility and implantation treatment. Two years later, in 2012, he was diagnosed with the rare and fatal Sanfilippo Syndrome.

Is it possible to maintain HOPE when you know that you have had “the bad luck” of giving life to a child born with a cruel, painful and deadly disease? When your lives are going to always be under the threat of death? This is a question that has been going back and forth in my head since 2012. I have gone through all possible emotional stages in these eight years, and no, it has not always been possible to maintain HOPE, at least not without a strong desire and willingness to maintain it, to work for it.  HOPE and FAITH are not things that just fall from the sky. Hope is built every single day; it is a decision and a constant exercise.  The same thing happens with faith, and to me, they go hand in hand.

On this path, I have had to learn a lot, a lot more than in 10 lifetimes. My strength is constantly being tested, and I confess that many more times than I like to admit, I have thought that I just couldn´t make it any longer; I have also felt a loss of faith. But it is precisely in those dark moments that a decision that I made years ago becomes stronger: to spend the rest of my life working not only for the health and life of my deeply beloved only son, but also for his happiness, so I could always see that smile on his face that illuminates everything around him.

Iñaki has no one else but me; the man who was supposed to be his father, my ex-husband, left us with the diagnosis. It’s not about me, it’s about my son. Its about him living every day of his life feeling confident and absolutely loved. It is not about living, as I have sometimes been told, without accepting a painful reality. No, it is not that; it is learning how to live with that painful reality, but not allowing that pain to be the axis of your life and that of your child. And here comes what I could say has been the most important and firm decision that I have made for both of us and which I exercise EVERY SINGLE DAY: TO LIVE WITH FAITH and, therefore, LIVE WITH HOPE. I will never stop fighting for his life, but I know that whatever happens, Iñaki’s life will have been beautiful and meaningful.

Janette Ojeda

Barcelona, Spain

 

I am honored to share our story along with those of other families in the KirbyGram, grateful that Kirby’s legacy continues to generate awareness and hope. My dearest Rhianna walks with me every day, in spirit and in treasured memories. I think back to 1995 when Sanfilippo arrived on our doorstep with only one researcher worldwide and the prediction of a treatment/cure not likely in my lifetime.  The future for Rhianna and us as a family was devastated.  The only way to stay strong and cope was with HOPE.   Hope in fundraising, in finding a cure, in beating the odds, hope that Rhianna would walk a different path than the one expected.  In a few short months, friends wanted to help find a cure, and our fundraising became known as Rhianna’s HOPE.  The repetition of the word Hope kept us strong and focused.

Rhianna did exceed all expectations: she painted, turned pages, and attended to books, rode a bus to school, pedaled her own bike and both rode horses and swam with dolphins for many years.  She had wonderful friendships and maintained her cognitive awareness to the very end of her unexpected 23 years.  Throughout her journey, despite all that Sanfilippo had taken from her, Rhianna’s strength never wavered.  This was clear in her amazing smile, infectious laugh and joyous spirit.

I remain truly grateful to all who supported the MPS grass root efforts, pounding the pavement, fundraising and directing money to the best resources for a cure. It has been decades of hard work by MPS families, researchers and doctors.  I miss Rhianna in every moment.  I continue to see the same wonderful characteristics in the children out there who are battling Sanfilippo and the many types of MPS.  Now with the advances in medical science and technology, along with worldwide Internet communication, there can be a firm belief that families will have a cure.  Our work is not done, so I embrace hope again…hope that our stories encourage donations, hope that there is a new path for every child with MPS, one that gives them many years to share their beautiful spirits.

Love and hugs to all.

Cynthia Logan

Plainville, Connecticut

Our Lucas touched everyone he came in contact with.   All remember his smile – that contagious smile and his ability to smile despite limitations and pain. He started and ended every day with a smile.  It will always be our reminder that life is what we make of it.

My hope is that despite the inevitable ending, we hold strong to the lessons he taught us. Live and love strong.  Follow his lead and stay courageous and positive, and remain in the moments of here and now.  There are no second chances.

Stacey Montgomery

Cedar Rapids, Iowa

Hope is my North Star. 

It seems that loving a child with Sanfilippo has much in common with a trip to Mars.  I wish I had thought of this title, but alas it is a quote from the Netflix series Away, a fictional story about a trip to Mars. 

The North Star is the sky’s anchor.  Its bright glow helps travelers determine their direction and reach their goal.  Hope has been my North Star since the day Ben was diagnosed, and it continues to guide me even now that he is gone.   With a vivacious, cow-loving 15 month old on my lap, it was a hope for treatment that initially anchored me and helped conquer the overwhelming anticipatory grief that I was feeling for all the things that would never be.  And hope was most definitely the fuel that drove my resolve as his mother to provide him with every opportunity to reach his greatest potential, even as he was losing his abilities and Sanfilippo was beating him.  The pure, simple hope of hearing a sound, watching his lips curl in a smile or having his eyes lock with mine in that way that said “I love you, Mom” made even our most challenging days better.  Hope most certainly anchored me on the day Ben died.  On that day as we turned off the ventilator, my hopes were for his peace, for my other children’s hearts to heal, for mine to never forget, for the courage and determination I knew I would need in the coming weeks.  I know it sounds odd (except to those who know), but even the impossible is better when hope is part of the equation.  You see, like the North Star, hope is visible no matter where you are.  You just need to remember to look for it.

PS. The same series produced another good quote – one that most certainly applies to the effort of so many families, like mine and like the Wilsons, to drive science and bring treatments – “The hope that we might succeed is enough to keep us trying.”

Jennifer Siedman

Wellesley, Massachusetts

Season’s Greetings.   I’m Jill Wood, Mother to Jonah Weishaar, a cheeky little chap who loves to play jokes on his parents.  Jonah could tell you knock-knock jokes all day long, and he loves hiding and surprising his friends and family.  His laugh is so infectious that you can’t be angry when he scares the pants off of you.  Jonah had the misfortune of receiving two bad copies of a gene from his parents that caused him to have Sanfilippo syndrome type C.  Fortunately, Jonah had an astute pediatrician who recognized the signs of Sanfilippo when he was only one year old.  This gave us the chance to fight Jonah’s fate.  At that point, Jonah was making his milestones; to us he was perfect in every way.  We didn’t know that his ears were so full of fluid that he could barely hear.  We were able to address his hearing during his formative years.  Jonah qualified for special early education services and started receiving speech therapy when he was two years old.  Jonah is now 12; he can still speak full sentences and is still learning new things.  He has defied his fate in every way.  My husband and I are extremely lucky, and we haven’t taken our blessings for granted.  We formed a not-for-profit to raise funds for gene therapy to treat Jonah’s version of Sanfilippo.  We are now planning the first-ever gene therapy clinical trial for Sanfilippo type C. We’re about two years out from giving Jonah a treatment.  My hope is that Jonah can maintain his skills for a few years longer.  If he can, Jonah could be the first child with Sanfilippo type C to live a long life.  That’s my hope.

Jill Wood

Brooklyn, New York

Everyone has a story to tell.  Ours is one of faith, family, sacrifice and hope.  Ours started out with three beautiful children, all of whom we thought were healthy until one day, in 1998, we were given the unthinkable news that our youngest daughter, Elisa, then aged four, had Sanfilippo Syndrome.  This diagnosis, at first, left us hollow, helpless, devastated and so much more.  We were told to take our daughter home and enjoy her every day, as there was no treatment and very little research worldwide to find a cure.  We were given no hope.  We then met the Wilsons – Brad, Sue, Maggie and Kirby.  We were inspired.  We joined them in their efforts to expand fundraising to support research in Canada and work together to help find a cure.  The Sanfilippo Children’s Research Foundation, “A Life For Elisa,” was created, and hope for us was born.

We are a family of faith.  We believe in a God who created Elisa for a purpose and gifted her to us.  We knew he would walk beside us, through the peaks and valleys on our long journey ahead of us.  Hope is the confident expectation of what we wish for and desire.  One cannot have hope without faith that the future will be better, where we believe in something that we cannot see or have not yet experienced.  For the twenty-two years of Elisa’s life, we lived each day with hope that a cure, even a treatment, would be found, and hopefully in Elisa’s lifetime. 

Hope is contagious. For over two decades, we have been surrounded by people who have encouraged, inspired and supported our efforts, sharing the same hope of a cure, helping us make huge strides in moving research forward, thus bringing us one step closer to that reality.

Not all stories have happy endings, but we believe ours will.  Although our sweet Elisa passed away October 31, 2016, at the age of 22, our story of hope continues, as encouraging research exists in labs worldwide as a result of donations given from generous donors over the years. Our story is not over yet.  The last chapter where we can say a cure has been found and a parent given the diagnosis of Sanfilippo Syndrome for their child has the reality of a treatment is yet to be written.  Until then, may the flame of hope our kids have lit never be extinguished, and may it continue to make all the difference for children diagnosed today and tomorrow.  Hope lives on.

Elisabeth Linton

Toronto, Canada

2020 has been a challenging year for all of us, I think.  Our Jesse, who is 25 years young with Sanfilippo Type A, has been resilient and overcomes everything that Sanfilippo seems to throw at him. This fall is starting off more challenging with what seems to be depression for Jesse, with all his resources still closed.  We hope his adult program will open again soon.

Jesse has taught us so much more about unconditional love, more than our average lives could ever have taught us, even with Jesus at the center.  Every tough challenge has been met with joy from Jesse, especially when we have found ways to overcome the issue. Fortunately, we have resolved most issues, and he has returned to his happy, smiling self again each time with no thought of the past.  His love for everything around him is endless and so tolerant.

We have been truly blessed by his presence in our lives, even though seasons in this life have been hard and challenging at times.  But even before Sanfilippo, we had challenging seasons in life in other ways. With Sanfilippo, when we overcome those challenges, the rewards are obvious, and we see the wins with the real life of this special young man God has given us for however long. It is our privilege and honor to care for and enjoy his life to the best of our ability until he returns to his forever home.   We will pursue every day to be the best he and we can be.

Over the years we have followed and advocated for research to help clear substrate that builds up in Jesse and others like him.  We have contributed to research that has funded many studies and trials, and yet we still have no cure.   BUT, many are helping with quality of life.  For that reason, we have hope that the studies we do now will give children afflicted with Sanfilippo a chance at a better quality of life until a cure is found.  Never give up hope, but live your best each day for today!

Love to all our families and praying for a better 2021 for us all.

In Christ’s love,

The Taomino Family,
Patty, Jack, and Jesse
Baltimore, Maryland

In the seven years since my beautiful children, Isla and Jude, were diagnosed with Sanfilippo, the one thing that has sustained me each and every day is hope.  In the early days, I was warned by the doctors that I shouldn’t have “false hope,” but I have come to know there is no such thing – all hope is real.  I think they thought my hope was simple, that my kids would be cured, make complete recoveries and live long and healthy lives.  But hope comes in many forms.  Hope is not one-dimensional.  It is complex and multi-faceted.  It gets us through the long days and the short years.  It is enduring and it is unwavering.

Over the years my hopes have changed.  Once I hoped for Isla and Jude to develop enough cognition and language that I would know who they were before I lost them.  Now that Isla’s words are all but gone, my hope is we might communicate through other means – with our eyes, through our touch.  Once I hoped we would be able to prolong their lives, now I hope to alleviate their suffering in the short years they have.  And when the time comes to say goodbye, my hope is we will be ready.

I wrote this piece about hope and what it means to me, and we turned it into a video clip featuring Sanfilippo parents.  It resonated with others who are living this life, because sometimes hope is all we have.

Ode to Hope

Sometimes hope is all we have

Hope that children with Sanfilippo might face a different future to the one handed to them on diagnosis

Hope that something might be found in their lifetime to help alleviate their suffering

Hope that future generations are spared the heartache that we have today

Hope that my children are seen and loved and valued

Hope that I will see my children laugh and smile for many years to come

Hope that my children’s lives are not lived in vain

Hope that the strides being made in research can alter the course of this disease

Hope that treatments we’re exploring can bring us closer to a cure 

Hope that every day is progress and tomorrow will be better

Hope that you will stand beside us through the good times and the bad

Hope that one day we will have a world without Sanfilippo

Megan Donnell

Sydney, Australia

Hope In Research

The Foundation is thrilled to announce its two-year award to fund a postdoctoral fellowship: Gene Therapy for Sanfilippo Syndrome at the Research Institute for Children’s Health at Case Western Reserve University in Cleveland, Ohio, under the leadership of Dr. Mitchell Drumm.  

Dr. Drumm earned his doctoral degree in the laboratory of Francis Collins, M.D., PhD, with whom he co-discovered the gene that causes cystic fibrosis (CF).  Dr. Drumm has been involved in the therapeutic development processes for cystic fibrosis ever since and in 2015 launched the Research Institute for Children’s Health with the philosophy that one take the successful strategies learned in CF and apply them to other genetic disorders, moving more quickly and efficiently by not reinventing the wheel.  Dr. Drumm is excited to engage in gene therapy for Sanfilippo because of the transformative changes in genetic therapy technology now available.  His lab and colleagues have developed a pipeline approach to move therapeutics to the clinic in other rare, genetic disorders using gene-based therapies.

Dr. Drumm’s implementation of laboratory-to-clinic research programs for rare, genetic disorders patterned after the CF approach is exciting and now provides a fresh look at gene therapy for Sanfilippo, revitalizing hope for families and children afflicted.

 Dr. Drumm has described for us that his laboratory has created mouse models that allow easier and stronger detection of successful steps in the gene therapy process.  He says that current technologies don’t allow us to look for the enzyme in individual cells of the body, or how long it lasts.  The cells of the mice they’ve developed actually light up if the gene therapy approach reaches them, making them straightforward to find.  Dr. Drumm explains “Our mice, that let us see where the gene therapy particles go, how many cells they enter, and how long they last, will provide a guide when we compare different gene therapy approaches in the Sanfilippo mouse that the Foundation had the foresight to fund.  We have teamed up with AAV gene therapy experts as the first approach we will try, but are set up to evaluate any system one wishes to try, or even combinations of systems.  The support from the Foundation will allow a talented postdoctoral fellow in my lab, Karen Schelde, PhD, who has extensive experience with mice in this regard, to test the gene therapy strategies.”  Dr. Drumm is very excited for his lab to work on Sanfilippo.  “Quite simply, this is why the Research Institute for Children’s Health exists,” he says.  “Our researchers may be scientists, but they are also parents.”

Dr. Tim Miller, Co-Founder, President and CEO of Forge Biologics in Cleveland, Ohio, introduced Dr. Drumm to Sue and Brad Wilson.  The Wilsons and Dr. Miller first met when he joined forces with the Sanfilippo community in 2012 and founded Abeona Therapeutics.

On a personal note, Brad and I are excited by the Foundation’s opportunity to include Sanfilippo in Dr. Drumm’s work said Sue Wilson.  It circles back to our beginning – funding the development of a mouse model and including Sanfilippo in the most promising research, which included AAV gene therapy research – utilizing both with new “tools.”  And now, because of Tim’s introduction, we have the honor of working with a gentleman, like Tim, who wears his compassion for children afflicted on his sleeve.  Their passion and morals and the integrity of their work exemplify all the Foundation’s values of being, sharing and enduring hope.  Quite simply, it just feels right in our hearts.  Kirby is smiling.

KirbyGram Winter 2019

KirbyGram Winter 2019

Latest from the KirbyGram

 

Dear Friends,
Brad and I know, as all parents do, that the depth of love for our children has no boundaries. What we chose not to dwell on after Kirby’s diagnosis, just before her fourth birthday, was the depth of our grief if we lost her. It was unimaginable, and there was so much that could be done to change the devastating outcome of Sanfilippo. The Foundation was formed, decades of fundraising, awareness, and in turn, expansion of research followed, including Sanfilippo in all the most promising methodologies of treatment. All of this, while watching Kirby capture the hearts of all those she met, rallying a community and inspiring determination with her unbounded personality filled with fortitude and grace and her ever-important question, “Happy?” Unfortunately, that unimaginable grief became a reality for Brad and me on October 22nd when our beloved Kirby passed away unexpectedly, yet peacefully, in her sleep.

Our hearts are broken.

The outpouring of sympathy was and continues to be overwhelming and shows us that, like her fortitude and will for happiness, her impact on others has no boundaries and will continue to influence. She will forever be our family’s inspiration and a beautiful face of hope. We thank all of you for your sympathy, for sharing your memories and for expressing how Kirby’s life radiates into yours. It is your stories and reflections, along with our memories,
that will help us as we begin our new journey. And, with your continued support of this Foundation and its mission, you will help us to ensure Kirby’s legacy – A Cure for Kirby.

With heartfelt gratitude,

Sue and Brad

Facebook and #GivingTuesday

For Kirby’s sister, Maggie, there wasn’t a second thought to using this opportunity to help. With her love for Kirby and her knack for all things digital, Maggie knew this fundraiser had success written all over it! Her many Facebook friends agreed and contributed more than $5,000 on last year’s #GivingTuesday held November 27th.

The Foundation Gives Thanks . . . 

To Donna Logan-Gabel and Nicholas Megofna, who designated the Foundation as their charity of choice in their employers’ United Way campaigns;

To Barbara Cummings for her generous donations in memory of Adele Orr Delisi and Judy Davis;

To Margaret Anderson for her donation in honor of Gail and Bill McCabe;

To Betty and Bruce Tompkin for their generous support of research in honor of Kirby;

To Jan and Don Matheny for their donation in honor of Donna and Matt Scotty;

To Beth and John Wilson, Brad’s brother and sister-in-law, for their donation through John’s employer’s JPMorgan Chase’s Good Works Workplace Giving Program;

To our secret Facebook Friends for donating to our mission;

To the Amazon shoppers who designate the Foundation as their charity of choice on smile.amazon.com.   Amazon’s Smile Foundation has been donating .05% of your Amazon purchases to the Foundation.  We are sure Kirby is smiling down on this!

To Kirschbaum’s Bakery and Casey’s Market, both from Kirby’s hometown of Western Springs, for their continuous fundraising efforts using cash jars over the past 25 years.   And to the people of the community who filled them, the Wilsons thank you for filling their hearts with the warmth of your compassion for their daughter, your “hometown girl,” and

To all who donated to the Foundation in memory of Kirby, the Wilsons thank you for honoring their daughter’s life by helping them to turn others’ hope of a cure into a reality.

And, To The Families Working Together Toward a Cure . . .

To Betsy and Steve Fowler for their kind words and donation in fond memory of their daughter, Kimberly; To Barb Trocheck for her donation in loving memory of her daughter, Carley; To the many that donated in fond memory of dear Sydney Moff; To all who donated in memory of Arthur Kidwell, father of Dave Kidwell, and to the many family and friends who donated in memory of Anna and Dave’s daughter Ashleigh; To Danielle and Matthew Cuculic for their donations, as well as to their employer, the Humana Foundation,  for its matching gift honoring Danielle’s sisters, Brooke and Ashleigh Kidwell. To the Manafort Family, who honor the memory of Rhianna Logan by continuing to choose the Foundation as the benefactor of its annual golf tournament.   A $2,500 check was received in memory of sweet Rhianna; To the people who contribute to the Artisan Shop’s cash jar, as well as family and friends who donate to the Foundation, Rhianna’s parents, Cynthia and Gene Logan, give their heartfelt thanks for always remembering “Rhianna’s Hope” and Cynthia’s words, “Our work is not done.”    

Ashleigh Kidwell 

May 29, 1990 – January 2, 2019

Ashleigh Kidwell, daughter of Anna and Dave, sister to Danielle, Callie and Brooke, died on January 2nd at the age of 29. The Kidwells share Danielle’s remembrance of their dear daughter and sister.

“Ashleigh had a hard life, and one that was very unfair. Looking back through pictures, I realized and was reminded of how much Sanfilippo has taken from her- her abilities, her independence, her personality- slowly, over her almost 30 years. But going through pictures also reminded me that Ashleigh had a good life. There has been plenty of laughter, activity, and fun. We went camping, to the zoo, to the beach, hiking. School field trips, gymnastics classes. Family mountain camping trips to Colorado and Utah. She was a sister, daughter, girl scout, school student, gymnastics student. She loved music, musicals, and to sing. She was a daddy’s-girl.

Ashleigh- who we also called Ash, Nellie, or Nel- also gave us many things as a family. Even after Sanfilippo had taken much from her, caring for her kept us closer as a family. We learned teamwork. We ate the majority of our dinners together as a family. We spent more time together as a full family of six. We divide and conquer. We have definitely learned that sometimes when things get too crazy or ridiculous, all you can do is laugh. We learned all the words to Mary Kate and Ashley movies, to enjoy hearing Brooks and Dunn’s Boot Scootin’ Boogie and Tim McGraw’s I Like It, I Love It over and over again. For a while there we learned to strategically place ourselves between Ashleigh and any fire alarms, because for whatever reason she had to pull them, like a moth to a flame. She was on a first name basis with the fire department for her school!

Ashleigh will continue to be here with us through her impact on those who knew her. She changed all of us, and I’d say made all of us better. Having special needs sisters makes me more compassionate. More accepting. More understanding. Convinced me that the most important thing I can teach to my future children is to be inclusive. My parents initially got our dog Zoe for Ashleigh. Turns out she seemed indifferent, but Zoe will forever be my favorite dog, so thanks Ash for that! The first Christmas when my husband Matt and I were dating, he wrote cards to Ashleigh and Brooke, and reading his words to them is the first time I thought, “Yeah, I’m going to need to marry this guy.” So Ashleigh will always be a part of that memory, and so many other memories. She will always be a part of my life in so many ways.

This time, and losing Ashleigh so suddenly and unexpectedly, is obviously very hard, and I know we will continue to mourn her loss. However, I am also happy, excited, and relieved for her that she is free from all the burdens, limitations, sicknesses, and hardships placed on her in her time on earth. She was handed way more than any person should be asked to bear, and never complained. She was poked, prodded, pulled, lifted, carried, brought down, gradually lost skills and abilities, and the worst we ever got back from her was an occasional glare that said “can you please just leave me the heck alone”. It is comforting to know that she is with Jesus, and she can walk again, can talk again, can see, run, play, sing, can understand, can comprehend, can communicate. She finally gets to be the person she was always meant to be, always should have been. I will miss her here with us, but I also very much look forward to the time when I get to see her again, and get to know the real Ashleigh as she was always meant to be.”

 

 

Sydney Moff
May 6, 1989 – May 4, 2019

Theresa and Steve Moff of Williamsport, PA, lost their beautiful daughter Sydney, on May 4th at the age of 29. Her family, which includes brothers Stefan and Hunter, reflects:

“We lost our bright ray of sunshine. Her smile and laughter brightened
our world and will forever touch and brighten our hearts and souls.
Despite her illness, she took life on with gusto. She was up for anything.
Nothing was ever not worth experiencing. She also never complained
about her illness or any of the painful and exhausting hardships she had
to endure. We will forever remember her laughing, singing and dancing
her way through life. Even though in the end, her illness robbed her of
the ability to physically experience so many of her joys, you could still
feel it in her bones and see it in her eyes, especially at “cuddle time.”
Theresa remembers the words a dear friend spoke to her upon learning
of Sydney’s passing: “She told me not to think of everything that I had
lost by her dying but everything I had gained by having her in our lives.
Those words have so helped me focus on the good things, and there
were many. It has brought many smiles to my face and brought back
wonderful memories.”

Research Update

The Trials Continue

Jodie Gillon, Vice President, Patient Advocacy for Abeona Therapeutics, continues to update on the development of treatments, encouraging progress and enrollment opportunities in the trials for both Sanfilippo type A and B.

“We had the priviledge of hosting the The McGee Family in our Cleveland facility earlier this year. The opportunity to learn from families first-hand helps us design our clinical trials and education programs. Most of all, these interactions are a source for continued motivation as we get to see how every day counts. This was the first time we hosted grandparents and it was illuminating for us to hear the impact of not only witnessing your grandchild lose skills but the effect of watching your child suffer for years and the helplessness they feel.

Latest Data

On July 25, 2019, Abeona reported positive interim data from the Transpher A study. The data suggests that ABO-102 has a favorable safety profile and therapeutic potential for the treatment of MPS IIIA. Neurocognitive development was preserved in the three youngest patients enrolled in high-dose cohort 3 and they were tracking within normal age equivalent development 12-18 months after treatment. Robust and sustained biomarker improvements were seen across all dose cohorts, 8-24 months after treatment, and no product-related serious adverse events were reported in the study.

Abeona is currently enrolling eligible patients into Phase 1/2 clinical trials for MPS IIIA and IIIB

ABO-102 for MPS IIIA ABO-101 for MPS IIIB

Abeona is conducting global clinical trials to assess the safety and efficacy of gene therapies for patients with MPS IIIA (Transpher A) and IIIB (Transpher B). To be considered for enrollment in the Transpher A or the Transpher B studies, potential subjects must be between 6 months to 2 years of age or ≥2 years with cognitive Developmental Quotient (DQ) of ≥60. A full list of inclusion/exclusion criteria for each study is available at ClinicalTrials.gov (MPS IIIA: NCT02716246; MPS IIIB: NCT03315182).

The Transpher A study is being conducted at clinical sites in the U.S., Spain, and Australia, while the Transpher B study has sites in the U.S, Spain, and France. Travel assistance is available for patients and their families enrolled in either study.

At Abeonatrials.com, you can find a six-question survey to see if your child may be eligible for the Transfer A study. If the survey results suggest that your child may be eligible for the study, you will have the option to send your information to the nearest clinical study site for evaluation by a study investigator. Completing the survey does not mean a child is eligible; the doctor overseeing the clinical study at each site (principal investigator) will still need to evaluate and decide if your child can undergo screening for enrollment in the study. Only after the full screening process is complete at the site will the investigator be able to determine if the child is eligible to participate in the study.

ABO-102 for MPS IIIA

Study ABT-003 is enrolling patients with middle and advanced phases of MPS IIIA who may not be eligible for the Transpher A study. The clinical trial is evaluating a single-dose of ABO-102 that is delivered using an intravenously administered AAV9 vector. While there is no age requirement in this study, potential volunteers must have a cognitive DQ lower than 60 to be screened for enrollment. They must also be ambulatory, with or without assistance. A full list of inclusion/exclusion criteria for study ABT-003 is available at ClinicalTrials.gov by searching ‘NCT04088734.’ You may also consider providing your child’s physician with this clinical trial identifier to help determine if they may be eligible for the study.

Reflections, Gratitude and a Life Filled with “Happy”

This KirbyGram is filled with the harsh reality for families such as ours. These children’s lives and those who went before them are important to recognize and honor. It’s part of what this Foundation has always done. Obviously, this year was personally devastating to our family. But, that being said, this Foundation’s beginning and decades of success, were built on hope, hope that allowed our family to stand up from the devastation of Kirby’s diagnosis and live our lives in the manner she so richly deserved – celebrating life and family and creating joy-filled memories. And now, we feel it is more important than ever to leave you this holiday season with that same joy-filled feeling, remembering our daughter in the light she so brightly showed for 28 years and ensuring we move forward in a manner that would bring that beautiful smile to her face.

Here are some of the happy feelings Kirby left with family and friends. We hope these words impact you, too, in some small way and most importantly, make you smile.

“She would look into your eyes, the eyes of her Mom, Dad and sister, her family, friends and visitors, and show them how much she loved them, without condition, without asking for anything in return, without saying a word. Just be, and be with me. Kirby gave us that gift of unconditional love. And isn’t that the greatest triumph of any life? To love and be loved, without limit, without reason, without words.”

“Kirby taught us the beauty of smiles, love and the strength of family.”

“She was a force that changed all of our lives for the better. Even through the darkest of pain, she taught us how to love. She made us believe that we could find joy in absolutely every day.”

“That’s the thing about experiencing death – it allows you to experience the most intense forms of love…..And it’s that love, cultivated by Kirby, that gives me the confidence that there will be lots of happy times ahead for all of us.”

“She gave us strength and purpose. We do not know for certain how long any of us have here and we cannot foresee the trials or misfortunes that will test us along the way. But I will tell you what we can do now for Kirby’s legacy is live our best lives with purpose and with love and most of all happiness. Let’s use each day to show each other how much we care, and let’s treat others with the kindness and respect that we wish for ourselves.”

“She taught me so much about life and all the small wonderful things that should be celebrated each day. Thank you, Kirby, for helping teach my kids about acceptance, love and compassion for others.”

“Kirby gave us the gift of perspective. Every day that Kirby was with us was a blessing. She reminded us that most of our problems are not really problems…be grateful for what we have…choose joy over gloom, because ultimately, life is so fragile.”

“Kirby gave us the example of perseverance and inner strength. She confronted and fought battles that would have crushed many of us. She showed us what it is to be strong, because strength is not just found in being the biggest, the toughest, or the fastest. Strength is found in one who keeps going, keeps trying, day after day, and long after others give up.”

“Simply put, Kirby refused to give up or succumb to changes she experienced by withstanding Sanfilippo and fought back with amazing fortitude. Strength is found in one who knows success isn’t always big and flashy, but knows that sometimes the greatest success is found in the tiniest of victories.”

“Hope is a tricky word. It is fluid. Enduring when you know to look for it. Sue, Brad, sister Maggie and nephew Anthony know hope. It is in their hearts, even today. Kirby put it there. The future, tomorrow, other families’ hope is here because Kirby was.”

“Because of Kirby: I am more appreciative and accepting of life’s simple gifts; I’ve seen how big love can be; I’ve learned every child deserves every opportunity; I’ve learned to not worry about how to communicate, just do it and you’ll find your connection to others no matter how different our lives are; I try to be ever present; I understand that it is possible to enjoy life, be happy and spread love despite your circumstances; and I know all the words to Barney’s “I Love You.”

“My favorite day of those summers was always the first day back. Kirby Derbs would watch me for a few moments, and then I saw that moment. The moment when she saw me…The tilt of her head and that mischievous smile. I’ve lived lots of places, and I’ve met lots of people. People look, but not everyone really sees you. Kirby gifted that to me, and I am forever grateful. That tilt of the head, when she recognized whatever was inside me that was connected to her…I will cherish that forever. And I’m almost 40, but I still stomp through a puddle sometimes. Just because. And I always smile.”

“Be in the moment, love those around you, hold each other close, and look for a greater cause. Choose to find joy in your life, and by all means, be happy. That is what Kirby stood for.”

Kirby would ask, “Happy?” And she meant it. She wanted to know if we were just as happy as she was, because that was how she lived her life.