Down Syndrome Cognition Research: THE Most Important Opportunity

by Sarah Wernikoff

Sarah Wernikoff was honored with the Luminary Award at our inaugural recognition gala, the Sky’s the Limit. Sarah chaired the LuMind Foundation Board from 2012-2014 and served as a member of the board for seven years. She presented the following remarks on why LuMind Research Down Syndrome Foundation and Down syndrome cognition research are important to her. Thank you, Sarah, for your continued support and inspiration!

I feel very honored to be acknowledged in this way – particularly at the same event as Dr. Mobley — the original visionary behind this field of research, and Dr. Edgin. It’s only due to their genius, creativity and perseverance that we are all here today. I also want to thank the Whites who had the vision to make this organization possible, and who have done so much for this very important cause over the last decade.  And last, I can’t leave out Carolyn Cronin. The breath of fresh air that is carrying us into the future. Carolyn, thank you for your tireless commitment.

It’s ironic for me to be here in this way with Dr. Mobley, and Patty White, as they are the very two people who I first had contact with 11 years ago soon after my daughter Tate was born in October of 2003.

It’s still hard for me to talk about those early days, …but needless to say learning Tate had Ds was a complete shock to our family. We knew next to nothing about Ds and didn’t know what to expect – all we knew then was that our lives were going to be very different than what we had planned and envisioned.

It was between the shock, and I’ll admit the tears, of those initial few days that my husband Dan and I started thinking about research. What was going on the field of research to help us help assure our daughter would have the very best opportunities in life as possible?  We quickly learned about all of the community, educational, and advocacy resources that had made enormous strides in the past decade or two for people with Ds, and felt very fortunate to benefit from those tremendous efforts and successes……but what about research?

At the time, in 2003, if you went online to search Ds cognition research finding information was like finding a needle in a haystack. So after finding virtually nothing online, Dan and I began to network through Stanford, and Bill — I’m sure you don’t remember this, but I eventually tracked down your contact information and started hounding you (one might even say stalking you, but I will leave those details in the past).  But it was you who put me in touch with Patty who at the time was in the very beginning stages of founding this organization with Jim and the Kafkers in Boston.

So…that’s a long-winded way to tell you all how I got involved, but I tell it for two reasons.

The first is to paint the picture of how far this research has come in the last decade.  Today, in large part due to the work of those in this room, this same Google search results in pages and pages and pages of information and research breakthroughs. It was the goal of the honorees in this room to be a catalyst to cognition research, collaborate with the best and brightest and bring new researchers into the field – and they have done this in an incredibly short amount of time, and on an absolute shoestring budget.

The other reason I share the story is explain how innate and intuitive it was for Dan and I to know that cognition research was THE most important opportunity for our daughter.

When people ask me about my volunteer work and what LuMind is all about, I tell them it supports cognition research for people with Down syndrome. This usually results in blank stares, long pauses and a sense of confusion. Its’ not an easy thing to understand, like cancer research for example.  So I always try to describe it in more familiar terms, like glasses for someone who is visually impaired, or cochlear implants for someone who is hearing impaired.

We are not trying to change anyone — but just turn the dial and move the meter a bit on abilities. The ability to remember. How can you learn if you can’t remember? The ability and speed people with Ds process information. The ability to communicate, and ability to articulate thoughts and feelings.  It’s hard to put it into words, and in some ways you need to know someone with Ds well to understand it, but even small improvements in these areas will have a huge impact. The small improvements will impact the work they do at school, the richness of their friendships, the type of job they will have one day.  It will have a very direct impact on each child’s overall independence as adults, and even more importantly their risk of developing early onset Alzheimer’s disease.

Dan and I are convinced the research, whether results are subtle or significant, will have an enormous impact on Tate’s future. Yes, the years of weekly PT, OT, speech, socials skills therapy, and of course educational support we all give our kids is fundamental to their success, but cognition research, in my book has equal footing — and the potential to be a game changer to the futures of all those with Ds.

So it feels a little awkward to be here receiving an award for this work that is obviously very self-serving. It truly has been a labor of love.

And in case you were wondering, I thought I’d close by sharing that we were actually right in 2003 that our lives were going to be different. But what we didn’t know then, was what an overwhelmingly positive different it would be. Tate is the most fun, most loving and sincerely kind person we know. She is the nucleus of our family and it has been an absolute privilege to be her parents. Our goal, as with all of our kids, is for her to live her life to her greatest potential, and I thank all of you in this room for helping us do that.

My Giving Story: We Need Research AND Advocacy

 – Stephanie Hartman shared this story at our inaugural Sky’s the Limit Awards Gala where we honored Dr. Jamie Edgin, Dr. William Mobley, Sarah Wernikoff and Jim and Patty White. Thank you, Stephanie, for supporting LuMind RDS Foundation and for sharing your personal reasons for supporting Down syndrome cognition research. 

By Stephanie Hartman

Even from a young age, I knew that I was meant to be a mother. I could see through the experience of others and particularly with the closeness within my family growing up, that good parenting is hard work, but immeasurably rewarding and the most important job to be done.

I became pregnant just before turning 34. My husband Ryan and I learned that our baby boy had heart issues that would require heart surgery in early childhood. We were told that these heart issues were commonly found in children born with Down syndrome, so that was a possibility for our son.

For many reasons, including this, my doctor strongly encouraged that I get an amniocentesis. At that time, it was the only method to determine genetic variances with any certainty.

I was informed that conducting the amniocentesis itself presented a slight risk to my baby. The information would have been helpful for preparation. However, I was unwilling to take the risk.

I viewed this differently than other choices that just affected me. This was a tiny unborn person who only had me to count on to keep him safe and healthy. Also, due to strongly held personal beliefs, I knew that regardless of the results of any test, I was going to give birth to and care for and unconditionally love any child growing inside my body.

In utero, the doctors took measurements of my son’s head, torso, arms and legs. We were told that that our child’s proportions seemed typical and didn’t indicate Down syndrome.

That was enough for us to believe what we thought was ‘’best case” scenario, where our child would have the certain heart defects and require surgery but would otherwise be typical. So we put our heads in the sand and continued our dreams for the future of our family.

Not long after midnight on February 26, 2008, at University Medical Center in Tucson, Taylor Glen Hartman was born.  He was tiny, under six pounds….not the nine pounds that had been predicted. Many things were not as predicted.

Soon after the umbilical cord was cut, I could hear the people in the room whispering to each other. I had never had a baby before but I could tell that something was not right. UMC is a teaching hospital, so the room was filled with interns and residents. After cleaning the baby, one of the doctors explained that our son had features consistent with Down syndrome.

What a strange experience. We shouldn’t have been, but we were stunned.

I was trying to simultaneously process this information that would change the course of my life and manage the political correctness of my reaction, given the room full of strangers witnessing this very personal moment.

The hours and days that followed were the most confusing and challenging I had ever experienced.

The instant and beautiful bond between mother and child shown in the movies was not my experience. I understood though that this tiny gift from God in unexpected wrapping needed me. So through the tears, I snuggled him, I sang to him and I nursed him like our lives and our relationship depended on it. It did.

Meanwhile, Ryan left the hospital. It seemed like he was never coming back.

He finally returned with a gift of tulips and a story about a trip to Holland. He also had information. While I was contemplating how to best support the social and educational components of the future advocacy of our child, Ryan gained comfort, strength and direction, reading the work of Dr. Mobley and others. He quickly absorbed so much about Down syndrome, the details of recent advances, and research underway that would maximize our son’s intellectual capabilities.

Thank goodness for Taylor, he has both of us. My narrow focus on advocacy for acceptance and inclusion would have prevented me from even considering medical cognitive interventions. I feared that in so doing, I was in someway rejecting Taylor or trying to cure his Down syndrome like a sickness.

We love our little rascal. Ds is part of what makes him who he is. Ryan and I wouldn’t take away the Down syndrome even if we could. But I now understand that cognition research is about maximizing the potential of individuals living with Down syndrome, not attempting to cure them of it. It is about helping our loved ones to:

• think more clearly,
• rest more peacefully,
• express themselves fully, and
• be as independent as possible.

Isn’t that what any loving parent wants for his or her child?

If Ryan hadn’t come across the valuable work funded by the LuMind Research Down Syndrome Foundation, we may have focused our attention on advocacy, at the exclusion of research.

Taylor would grow to the age that I am today and suffer from the cognitive degeneration that occurs in Alzheimer’s. If later I learned that I could have taken simple actions today to prevent such an onset, I would never forgive myself.

LuMind Research Down Syndrome Foundation is funding research that is very real, tangible, and applicable sooner than later – for children and adults with Down syndrome.

• Dr. Jamie Edgin’s sleep and cognition studies provide insight and possible solutions to the sleep-related issues faced by many people with Down syndrome – and their parents!
• Dr. William Mobley and others are working to help Taylor and others living with Down syndrome to retain the cognitive gains they’ve made through their lives.
• And thanks to the recent revelation of the connection between Down syndrome and Alzheimer’s, both communities can benefit from the research synergy.  

I know there are many causes looking for answers from research, but unlike federal funding for conditions such as Cystic Fibrosis at over $2500 per affected person, Down syndrome research only receives $60 per person from the National Institutes of Health.

Thanks to the vision of people like Jim and Patty White and the dedicated volunteers, like Sarah Wernikoff, who have supported private funding for cognition research, there have been many recent amazing breakthroughs.

But, we still have so much more work to do. There is fantastic, groundbreaking research waiting to be conducted by these and other distinguished researchers and rising stars. The only barrier today is lack of funding.

Now more than ever I believe that good parenting is the most important job to be done.

I urge you to be as generous as possible to help ignite new discoveries and propel this important research forward. Please join me in one of the most important jobs we can have as parents – supporting the futures of our loved ones with Down syndrome by funding these research advances.

Let’s Do This: Mobilizing the Cognition Research Army

By Maureen Wallace

The funny thing is, I’ve always had this unexplainable foreboding that I would develop Alzheimer’s disease. I guess that’s not so funny, is it.

The fear lurks in my mind, so much so that I visited a research facility once, thinking I’d be able to learn if I was “predisposed.” Turns out, the facility couldn’t do that.

Recently, I got an answer. My mom is starting to struggle with memory loss. Sure, we all do as we age. But a few incidents emerged that whispered, “Wait. Be still. Listen. Pay attention to me. This is more than lost keys.”

Suddenly, the possibility of Alzheimer’s smacked me in the face.

Let’s fuel the “army of researchers” ready to develop opportunities to improve cognition for Charlie and people who have or may get Alzheimer’s disease (photo credit Stephanie Stum).

Except, this was its second, ferocious smack. The first was the day I learned my son, Charlie, who is only 4 years old, is likely to develop Alzheimer’s disease at the same time I do because he already has Down syndrome.

Down syndrome and Alzheimer’s. Wow. My fears sprang to life before my eyes: My mom and my son, two different generations, about to head up the same frightening, rocky, formidable mountain.

That’s why I’m talking to you right now, why I’m writing this when only a handful of people know about my mom’s condition. I asked her if I could. She almost scoffed as she said, “Of course!” She knows why this – what I’m saying – is so important.

Because the link between Alzheimer’s disease and Down syndrome is unavoidable and unequivocal. Down syndrome is the existence of a partial or full copy of the 21^st chromosome. Alzheimer’s occurs on the 21^st chromosome.

This is real.

It’s already happening in my family. It can happen in yours.

An evil, selfish monster is intent on robbing your loved ones of the not-so-indelible-after-all images of children – grandchildren – giggling and playing on the same beach you did.

This suffocating blob of “science stuff” is determined to rip away the ability for a perfume to conjure a vision of my mom, kissing me goodbye as I bolted out the door for school, already late.

But wait.

We have an army, poised to attack this monster. Researchers are on the cusp of life-changing, life-saving discoveries. That is real, too.

Except those same researchers are standing helplessly, empty-handed. The funding isn’t enough. Researchers cannot continue on passion alone.

And so, it’s up to us. Now. These may be all the warnings we’re going to get. It’s time to build our resources and forge against this horrible, awful disease on all our horizons.

In the meantime, as we take on Alzheimer’s, we will give people with Down syndrome, like my little Charlie (who right now only cares about Elmo and the Wheels on the Bus), some real hope.

Hope for treatments that don’t cure Down syndrome but rather help Charlie with just enough of a cognitive push to understand why we lock our doors at night. Why we don’t talk to strangers. Why it’s important to be able to remember how to do that job that earns him that paycheck that allows him ever-increasing independence.

Money. Turns out money can absolutely buy my child’s future. It may be too late for my mom. We may be at only the beginning of a slow and horrible devolution. Or are we?

I’m never giving up. What if it’s never too late? What if what we do in celebration of  World Down Syndrome Day, actually matters?

Let’s do this.

– Thank you Maureen and her amazing family for sharing their story. To do more to fight off the “evil, selfish monster” consider a donation to LuMind Research Down Syndrome Foundation. Donations from March 18 through March 21, 2015 (WDSD) will be matched 3:1. Yes, let’s do this!

My Giving Story: A Foot in Two Worlds – Ds and AD

By Anna M. Miller, PhD, RN

New developments in the relationship between Alzheimer’s Disease and Down Syndrome are truly exciting, particularly for those of us who have vested interests in both worlds.

Proud Grandma Anna with her lovely granddaughter Stephanie. Anna supports Ds cognition research because she knows therapies that might help Stephanie may also help her, too.

My mother lived with classic AD progressive deterioration for 20 years, ending in total incapacity. Loving care-giving was an ongoing necessity, changing as her needs changed. Much later, my wonderful and beautiful granddaughter was born with Ds. Now 10 years old, she is very engaging, dearly loved, and quite high functioning, and new therapies to enhance her cognitive functioning (and maybe maintain mine!) may expand her potentials as she matures.

Such possibilities on the horizon send expectant shivers of excitement through my entire being!! She and I may come to have more in common than we thought!

My professional background and faith have helped me find gifts and grace through life’s challenges and opportunities, and also help me appreciate the intensive and extensive scientific efforts that have brought us thus far. Many thanks to all!

– Thank you to Anna and the entire Miller family for their support of LuMind Research Down Syndrome Foundation.

Harnessing the Momentum of Down Syndrome Cognition Research

by Ryan Hartman, Chairman,  LuMind Research Down Syndrome Foundation Board of Directors

Did you know if we had the funding, we could award $20 million in Down syndrome cognition research grants tomorrow?

One of the most interesting things I’ve learned since joining LuMind Foundation is the wealth of possibilities on the horizon. I’m a businessman with a background in aerospace, and I therefore appreciate the power of momentum and the efficient use of energy to keep making progress. Thanks to my son Taylor who has Down syndrome, I also have a personal interest in wanting to propel Ds research forward at mach speeds.

Ten years ago, there was little research progress on Ds. Researchers interested in unlocking the puzzle of Down syndrome were essentially forced to go into other areas because it was near impossible to secure funding for Ds discovery. Without funding, those researchers lent their talents to other efforts.

Now thanks to the efforts of the LuMind Foundation founders, donors, and the Ds community, there’s been a shift. Your support has been the catalyst and new researchers are entering the field and making exciting discoveries. We see proof each year at LuMind Foundation when our Scientific Advisory Board receives increasingly more proposals than we can fund with so many promising lines of discovery.

The momentum is exciting, but without additional funding we’re leaving research on the table. 

The LuMind Foundation has been successful in their approach to evaluating and selecting research grants and we have established awesome momentum. Thanks to you, four clinical trials are running based on discoveries ignited in one of our funded labs. We are proud of our results and the momentum we have generated, but we see so much more on the horizon. As within aerospace, momentum should be harnessed and coupled with propelling energy to gain more momentum to make further progress.

LuMind RDS Foundation plans to increase our propelling energy by amping up our funding while remaining true to our proven approach. What additional Ds research could we fund if we had the money? There are 20 million possibilities.

Leaving research on the table means there are discoveries, clinical trials, and drug therapeutics to improve cognition unfunded and undiscovered. Without a funding catalyst, the next great breakthrough could be delayed or remain undiscovered. Without a funding to propel us forward, we lose the momentum we have created.

I invest in cognition research for my son, but also because I see the possibilities. The ideas are there, the talent is there, we just need to keep fueling the momentum.

Please consider joining me in a year-end donation to LuMind RDS Foundation and cognition research.

Gift Honors Dr. Michael Harpold

Dr. Michael Harpold (right) speaking with Sonya Cabral at the IMDSA Research Conference.

Everyone who meets Dr. Michael Harpold, LuMind Foundation’s Chief Scientific Officer, immediately understands his dedication to Down syndrome cognition research and the Ds community.

One family of supporters, Suzanne and Carl Shepherd, are recognizing that dedication with a $15,000 gift to the foundation in honor of Dr. Harpold. The gift will support specific endeavors to ignite research and invite collaboration, two areas of importance for Dr. Harpold, who also heads up the LuMind Foundation’s Scientific Advisory Board. Specifically, the Shepherds are supporting new research fellowship grants for young and new investigators, and conferences, workshops, and surveys to promote collaboration and the exchange of ideas on research that may propel Ds discoveries.

“Drawing more researchers into the field, and ensuring the effective communication of research results and strategies, are key to the ultimate goal of the Ds community – new therapies to improve cognition and other effects of Ds,” explained Suzanne Shepherd in a note to the Foundation. “This donation is in honor of Michael Harpold and his many contributions to accelerating Ds research.”

LuMInd is very fortunate to have Michael working directly with the Scientific Advisory Board to  advance DS cognition research. Thank you to the Shepherd Family and to Dr. Harpold!

Invest in People with Down Syndrome – Meet New Board Member Debbie Morris

As a senior vice president with Lexington Insurance Company (part of powerhouse firm AIG), Debbie Morris knows a good venture can pay dividends. As one of our newest board members, Debbie sees cognition research, long overlooked and well underfunded by the government, as one of the most worthwhile investments for people with Down syndrome, one with the power to positively ripple beyond the Ds community.

“People with Down syndrome go to school, have jobs, and bring joy to those around them. People naturally gravitate toward them; my husband and I call their 21^st chromosome ‘the love chromosome,’” said Debbie. “Investing in the future of the Down syndrome population helps everyone – not just the Down syndrome community.”

While Debbie calculates sound reasons for investing in this community, she credits her daughter ten-year-old Sophia, who has Down syndrome, as being her own wonderful dividend.

“Rock star” Sophia is Debbie’s inspiration for everything she does in the Down syndrome community.

“She’s a rock star. She has such personality; she’s the love of my life,” laughed Debbie. “There’s so much to learn from people with Down syndrome. Sophia teaches me how to slow down and appreciate the moment.  I assure you this is no easy task!”

The ability to stop and slow down allows Debbie a moment to focus on the long-term. “I’m not a scientist and don’t feel the need to understand all the details of the research. I love the idea that a drug therapy may help Sophia and her friends get better jobs or live outside the home more successfully,” she explained.  “And let’s not forget how important the research is to other projects and initiatives, like a greater understanding of Alzheimer’s. LuMind has made incredible progress in such a short time. I’m thrilled to be part of this amazing organization.”

Debbie puts her commitment to work for Sophia and others with Down syndrome. In addition to joining LuMind Foundation’s Board, she serves as President and Co-Founder of Gigi’s Playhouse in New York City. She’s also been a long-time member of the committee for LuMind’s ROMP FOR RESEARCH, which held its annual fun fundraiser this October.

Over the past ten years of advocacy and action, Debbie has noted how the Down syndrome community and people around them have evolved.

“I love the thought that things are changing for this community. Things keep getting better. Now is the time to invest in the lives of people with Down syndrome,” she counsels everyone, not just people blessed with a family member with Down syndrome.

Thinking About Science the Right Way – Hampus Hillerstrom Joins LuMind Board

Please join us in welcoming new Board Member, Hampus Hillerstrom who will also be taking the lead on our Development Committee.

Hampus was introduced to the Ds community after his son Oskar was born a year ago.

“Oskar’s birth left me curious about what was going on in the biotech industry in the field of Down syndrome,” explained Hampus, who has a background in biotech and health research. “Dr. Brian Skotko from Massachusetts General Hospital directed me to the LuMind Foundation, and I was immediately impressed by the team and the progress they achieved in little time and with very limited funds.”

Once he understood the current research efforts in Down syndrome, not just cognition research, Hampus asked the next big question. “What is the best way to make a change in Down syndrome research? I was aware the NIH had funding limits and that LuMind made grants once per year. There’s a big need for more,” he said.

Hampus with his wife Lianor and son Oskar.

Hampus not only brings a science background to LuMind Foundation, he also is a businessman. In 2006, he co‐founded NeuroPhage Pharmaceuticals, a company developing a novel approach for treating Alzheimer’s, Parkinson’s and other protein misfolding diseases. He currently serves as its Executive Vice President and Chief Financial Officer.

“As I was asking why there isn’t more Down syndrome research and therapeutics,” explained Hampus. “I wondered if it was simply a question of identifying the unmet medical need.” For cognition research, Hampus quickly identified the need was funding and saw promising lines of discovery were left unexplored due to lack of grants.

Hampus is also intrigued by the connections between Ds and Alzheimer’s disease. “The Alzheimer’s disease community has a neuroimaging project, ADNI [Alzheimer’s Disease Neuroimaging Initiative]. There are so many similarities between Alzheimer’s and Down syndrome,” said Hampus. “We have a good start with the DS Consortium, but we can build a case for the need to add neuroimaging to advance research and assess candidates to test therapeutics.”

Hampus may have been motivated by Oskar and applied his business acumen to the science of Down syndrome, but he understands the long-range view of the possibilities.

“Oskar is a year old and wonderful,” said the proud father. “There are debates about research changing my son or daughter and I am so happy with where he is, but I like the plus 15 concept. I see stories of children with Down syndrome graduating high school and university, having jobs and living independently and need very little support. With cognition-targeted therapeutics and a lot of breakthrough scientific discoveries in Down syndrome, there are an increased number of amazing things to achieve, and some may help my son, while some may help the next generation.”

Businesspeople focus on the bottom line. Hampus joined the Board of the LuMind Foundation because our scientific approach appealed to his business sense.

“The approach LuMind Foundation took with the Scientific Advisory Board and focusing on strategically progressing research with targeted grants while supporting infrastructure and collaborative projects, highlights the best qualities about our Foundation and the success we’ve achieved. They think about the science the right way,” he said.