Dear Friends,

It’s been just over three years since we lost our beloved Kirby.  With this profound loss, followed by two years of Covid restrictions and isolation, Brad and I have come to realize, even more so than before, how fast time is flying by – days matter and you can’t take them back.  Our time spent with each other and family is invaluable.  Therefore, in this our last KirbyGram, we want to express our sincere, heartfelt thanks for the 29 years of kind words and gestures you have shown our family

The past two years I have written of hope, ever-changing yet ever-present, and gratitude.   Hope has given us confidence in our direction, and gratitude our force to transform a devastating diagnosis.    You validated our hope when we needed it most with your unfaltering commitment to our mission of “A Cure for Kirby,” which enabled us to feel a depth of gratitude we did not know possible in our darkest times.   You’ve always been our light, illuminating our path on this journey.

It was your support that made it possible for the Foundation to fund the basic science 29 years ago that allowed Sanfilippo to be included in all the most promising methodologies of treatment as they emerged.  This achievement over the years, with continued advancements, have led to the multiple clinical trials currently underway around the world.  An enduring gift of hope to families today.

Our continued hope for Kirby’s legacy of a cure and for the lives of children afflicted today shines brightly because of your commitment to create change.  Our profound gratitude runs deep and will never be forgotten.

Brad and I wish you all an abundance of happy.

Sue and Brad Wilson

Research Update

Below is an update from Dr. Mitchell Drumm, who is leading the team working with Sanfilippo at Case Western’s Research Institute for Children’s Health.   As Dr. Drumm previously stated when talking about his enthusiasm to add Sanfilippo, “Quite simply, this is why the Research Institute for Children’s Health exists.  Our researchers may be scientists, but they are also parents.”  We are excited by the potential the Research Institute’s work holds for children afflicted today.  As Sue states, “Being a small part of Dr. Drumm and his team’s efforts to help children afflicted with Sanfilippo is an honor and privilege.  Dr. Drumm’s compassion for children is only matched by the integrity of his work.”

Our wish is that his work encourages others within the Sanfilippo community to speak with him, learn more about his methods and goals, and join in our efforts.  We will be posting a video within the next month by Dr. Drumm showing his team at work in the laboratory, so you can see, firsthand, the inspiring work that is being done.

Mitchell Drumm, Ph.D.
Professor, Department of Genetics and Genome Sciences

Vice Chair of Translational Research
Director, The Research Institute for Children’s Health
Case Western Reserve University
Cleveland, Ohio

My lab is working on two strategies to deal with mutations in NAGLU, the gene that causes Sanfilippo.  One is to actually repair the mutation in a patient’s cells and the other is to add a functional copy of the gene to the cells.  The NAGLU enzyme, once made by the cell, must reach a part of the cell called the lysosome where it does its part to break down heparan sulfate.  Mitch has used the CRISPR/Cas9 system to engineer cells lacking the NAGLU enzyme to model Sanfilppo and is now testing the gene repair and gene supplementation strategies.  So far, the results are promising:  Adding back a normal copy of the gene provides enzyme activity to the cells, opening the door to testing the strategy in mice, looking not only for enzyme activity, but also positive effects on the disease.”  Mitch explains that his lab has added to the NAGLU enzyme part of a gene from jellyfish that makes the NAGLU enzyme glow, or fluoresce, so they can actually see it when using a special microscope.  His lab introduces the fluorescent version of NAGLU into Sanfilippo cells, just as they would in a gene therapy protocol, so they can not only see if the gene provides the needed NAGLU enzyme, but also visualize where it goes and how long it lasts.  In the picture, you can see cells grown in a dish (the grey globs that look like a bunch of frog eggs) in which the NAGLU-jellyfish protein is being made, as the ones that successfully took up the NAGLU gene glow orange.

Oh, The Memories We Are So Thankful For…..

Our Sweetheart Dinner Dances that would not have been possible without the expertise and talent of people like:

Gavin Spiers of the Drake Hotel
Marc Kaufman, The Ritz
Jamie Breslin, The Four Seasons, and finally
Michael Lerich and his talented group of musicians who were with us each and every year.

My friends, family and the Kentucky crew that made the silent auction beautiful and set up an annual event in itself that we looked forward to.

Memories of some of the sweethearts who attended will always bring a smile to our face —

A sweetheart who, just maybe, inspired breakdancing as it is today with his talented dance moves while on his back.  This same person, along with some tablemates, also created ballet with the Drake’s luggage cart.

The small but determined group that thought a trip to the Lodge for an after-party was a good idea – each and every year.

The dancing duo trying to get their knees to carry them up the Drake’s stairs the morning after.

The Fore Kirby golf outings with Kirby cocktails and friends.

The VERY wet 5K4 Kirby.

The Trivia Nights that overflowed with laughter and fun.

Cruisin’ for a Cure nights on Lake Michigan.

Deerfield High School students gathering to raise an astounding $52,000 for the Foundation.

LaGrange Highlands Elementary students sharing their talents for Kirby.

The LaGrange Highlands Women’s Club and its years of support.

Highlands Presbyterian Church and its members for always being there for us.

Merchants in Kirby’s hometown of Western Springs, including Casey’s Market, The Fruit Store, Kirschbaum’s Bakery, the Uptown Shop, Clever Girl and Vie Restaurant for always being there to contribute in whatever way was needed.

And Maas Auto too!

To the children within Kirby’s community who chose to make a stand for Sanfilippo with their purple lemonade stands.  We will never forget the joy we felt that day driving to meet you all, seeing your enthusiasm, with Kirby by our side, sharing some very special lemonade and sweet treats.

And to the gentleman, who never met Kirby, but chose to run the Chicago Marathon, his first, raising awareness and funds for the Foundation.  He finished the race injured by thinking of Kirby and the challenges she braved.  The following year, he ran a 10K with his wife, family and friends.  His words about fundraising and our Foundation will always be remembered.  “Small acorns grow into great oak trees.”

With Gratitude

To Dr. Elizabeth Neufeld

The Distinguished Professor Emerita, Biological Chemistry, at UCLA who was also the 1994 National Medal of Science honoree devoted much of her career to investigating Sanfilippo and potential treatments.  Her research and mentorship in the area of lysosomal storage disorders, of which Sanfilippo is one, is the basis for work being done today.  At 94 years old, although retired, she still attends conferences, sharing her brilliance with others in the field.

It was her words, back in 1995, that first inspired Brad and me.  She explained to us the reason rare diseases did not get the attention of other, more prevalent diseases was funding.  “The more of us that work on the disease, the faster a treatment will be found.”   Our mission became clear.  Thank you, Dr. Neufeld, for your inspiration and lifetime of work to help children like Kirby.

To our Board Members

The Foundation would not exist without you.  From my first telephone call to let each of you know of Kirby’s diagnosis and the path Brad and I had chosen, to the think tank formed, to our first Sweetheart just six months later, to today.  You’ve never left our sides nor hesitated to do whatever was needed.  With each of you sharing your talents and expertise, you guided us down a path to make the Foundation what it is today – impactful.   And something Brad and I will always be proud to have Kirby’s name and now legacy a part of.  Words cannot express what you have meant to us.  You are loved.

And to You

And to everyone reading this, our beloved Kirby’s legacy of a cure is within reach because of you and families that have joined our efforts over the years in honor of their children.  Together, we have created a formidable front against a disease we were all told was incurable.  Empowering brilliant research.   Brad and I thank each and every one of you for hearing of “a little four-year-old, blue-eyed bundle of joy with an infectious smile” who needed your help and you answered the call.  She had a disease no one really knew of at the time, but that didn’t matter to you.  What mattered was to help, even if it was just one little girl.  Today, rare diseases, like Sanfilippo, have the attention of many within the scientific community and bio tech companies worldwide.  Acorns to oak trees.  Thank you for helping us create this awareness and the hope families have today.  Kirby is smiling.

The comfort and peace we now feel within our hearts is a direct reflection of your support, commitment and compassion.

Our fond, heartfelt thanks.

Whether we hold these children in our arms or in our hearts, hope for their lives and legacies will continue to empower and prevail – always.

Dear Friends,

In 1995 Brad and I challenged a diagnosis and the words of a doctor by choosing hope for Kirby.  Advances were made as we learned the power of hope and the community that gathered to effect change. 

The Foundation was able to fund some basic steps toward a cure, such as automated gene sequencing for the NAGLU enzyme Kirby was lacking, which enabled scientists to identify mutations.  This led to the development of the genetically engineered synthetic gene, followed by a knock-out mouse model.

This work ultimately helped to include Sanfilippo in all the most promising methodologies of treatment as they emerged.

And over the years, other families, both here and abroad, heard of our work and joined in our efforts.  Together, we have created a formidable front against what we were all told was an incurable disease – all of us inspired by our children’s unbounded spirit and tenacity.

Working together with two of these families and their foundations, we were able to fund a natural history study that today still provides supportive data for clinical trials.

And along with Randall and Elisabeth Linton’s foundation in Canada, we funded the vector production for a human trial.

But with all of this success, what Brad and I did not think of was the reality of time.  The time it would take after initiating the work, the research and government approvals and raising the millions of dollars involved to bring a potential treatment from the laboratory to the patients.   For us, it was 19 years.  Thankfully, because of the basic science we funded and the advances that have been made throughout the years, this time frame has been greatly reduced. But still, days matter for children afflicted.

What Brad and I do know now is that hope endures – always.    He and I wish you all an abundance of hope. Because no matter what you encounter, it is hope that enables you to stand, hope that allows you to take that first deep breath empowering your strength and giving you the courage to continue and create change.  

But realize, as fellow parent Jennifer Seidman once wrote to me, hope is tricky.  It’s fluid – yet enduring.  In other words, your expectations of hope can be ever-changing.  And when I think of hope in that way, it is really what has enabled me to find a reason to smile each day, no matter the day, and look for gratitude.  

Finding that balance in our life is what helped us to navigate the expectations of our hope.  Our time spent with Kirby, as well as the time spent effecting change, both served to strengthen and inspire our resolve.  Both were important.  We’ve come to realize that creating those memories and giving Kirby the best life possible while doing what we did, and will continue to do for science, is what now gives us peace in our hearts.

This holiday season, please remember Kirby, smile and think of the Foundation and the children’s lives its work can impact.  

Brad and I wish you peace and joy.

Research Update

We continue to look for ways to accelerate research to ensure that hope shines bright for children afflicted worldwide.  With our commitment to Dr. Mitch Drumm and Case Western Reserve’s Research Institute for Children’s Health, we feel we are doing just that.

The Institute’s focus is on Sanfilippo and other rare diseases, and it uses proven, successful strategies while cultivating research expertise by championing young scientists – challenging them to be bold in the lab with their new and exciting ideas.  We can think of no better way of honoring our dear Kirby’s legacy of a cure and impacting the time so precious to children living with rare diseases today.

“I have been working on genetic diseases for nearly 40 years and over that time have seen advancements in science that change our understanding, provide new tools for us to use and create breakthroughs in medical treatments.  These advances are almost always unpredictable.  As Sue alluded, time is of the essence, but it is also the one variable we can’t control.  My approach is to make better use of the time we have by increasing the number of people trying to tackle problems.  The Foundation is helping me to engage young, energized scientists to work on Sanfilippo, not only accelerating the research toward treatments, but also ensuring that it is sustainable. We are enlisting the next generation of scientific minds so that the process will continue until we have reached our goals.

Our work in rare, genetic diseases focuses on fundamental problems, from identifying the gene involved, figuring out which cells in the body are contributing to the disease and then devising strategies to repair or replace the gene in the appropriate places.  For Sanfilippo, we know the gene and think we know the cells, thanks to work supported by the Foundation, but the latter steps need to be worked out.  To do so, we rely on cell culture systems, where we grow human cells in a petri dish to see if we can restore a gene or enzyme activity and then apply what we’ve learned to mouse models to determine if we can do the gene repair or enzyme restoration in the appropriate cells to an extent that will have clinical effect. 

We have generated versions of the NAGLU enzyme to which we joined a fluorescent protein so that we could track the protein in cells we wished to repair or otherwise provide NAGLU enzyme activity.  These “fusion proteins” have worked out well and seem to end up in the same location in cells as the native enzyme.  They are quite readily detected using our high-powered microscope that detects fluorescence.

Our most current challenge is that we could not find in our repertoire of laboratory cells any that don’t already make large amounts of the NAGLU enzyme, preventing us from seeing if our fusion protein maintains enzymatic activity.  To solve this, we are using a gene editing technique called CRISPR/Cas9 to create a model of Sanfilippo by disrupting the NAGLU gene.  This is also one of the technologies we will eventually test for its ability to repair mutations causing Sanfilippo.  We are currently sequencing the DNA of the cells and have several promising candidates to use for our studies.

Once these laboratory cell systems are vetted, our next steps are to see if we can restore NAGLU activity to them through gene replacement (putting in a normal copy of the gene) or gene repair by editing.  From there, we will begin our work on delivering these therapeutic systems into various cells in mice.  While we never feel we are moving fast enough, we do feel we’re moving in the right direction and are extremely thankful to the Foundation for including us in their mission.”

Mitchell Drumm, Ph.D. 
Professor, Department of Genetics and Genome Sciences

Vice Chair of Translational Research
Director, The Research Institute for Children’s Health
Case Western Reserve University
Cleveland, Ohio

Whether we hold these children in our arms or in our hearts, hope for their lives and legacies will continue to empower and prevail – always.