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.

Affiliate Profile: Thank You Buddy Walk of South Plainfield

By Veronica Fratta

Michele Both is a busy mom of four beautiful children aged 15, 12, 9, and 6. Yet once a year, she finds the time to organize a walk that mobilizes 650 people to support individuals with Down syndrome.

Michele’s second child, Kyle, was born with Down syndrome. That October, Michele and family attended their first Buddy Walk. As they drove home from the walk, Michele mused about starting a walk closer to home. The very next year, Michele did just that. With help from friends and family, she put on the first Buddy Walk of South Plainfield, New Jersey. About 250 people joined her to show their support.

Now in its 12^th year, the South Plainfield Buddy Walk brings together friends and families of individuals with Down syndrome. Boy and Girl Scouts and youth from various area schools join them to help with the event, which features not just the walk but lunch, games, raffles, and a DJ to pump up the energy.

Michele’s motivation is to raise awareness and promote acceptance of people with Down syndrome as well as raise funds for various Down syndrome organizations because Michele wants to put the money to good use. As a recipient of the Buddy Walk of South Plainfield’s generosity, we at the LuMind Research Down Syndrome Foundation are so grateful for their invaluable contributions to our research efforts!  We share a common mission of improving the lives of individuals with Down syndrome and we appreciate their support.

The next Buddy Walk of South Plainfield takes place on October 3, 2015, at Putnam Park in South Plainfield, New Jersey.  Please go to www.buddywalkofsouthplainfield.com for more information.

Alexander’s Angels: Supporting Every Person in the World with Down Syndrome

By Veronica Fratta

Esther Gómez-Nieto (in red) greeting attendees of a WDSD celebration at the Long Island Aquarium.

We hear so much about how far a mother will go to help her child, but how about a grandmother?  Well, Esther Gómez-Nieto organized a walk, started an art show, educated college students, started a foundation, and raised hundreds of thousands of dollars—all to support her grandson Alexander and others with Down syndrome!

It all started in 2001, when Esther travelled to Arizona for the birth of her grandson. But shortly after her daughter-in-law had Alexander, the doctors determined that he had Down syndrome.  Esther had never had any contact with individuals with Down syndrome, so she immediately set out to learn more.

As she was researching Down syndrome, she came upon the Down Syndrome Research and Treatment Foundation (the LuMind Research Down Syndrome Foundation’s original name).  Esther was able to hear a talk by Dr. William Mobley, currently the Chair of the Department of Neurosciences at UCSD and a LuMind-funded researcher.  In Esther’s own words, she was “blown away by him” and knew that she had to help fund his important work on cognition.

In the years since Alexander’s birth, Esther has been hard at work doing just that.  She started by organizing the first Buddy Walk® on Long Island.  That Buddy Walk® has been so successful that, in 2014, there were 2,000 walkers and they raised over $100,000 to fund local organizations and services, national advocacy organizations, and Down syndrome cognition research.

But the Buddy Walk^® wasn’t enough for Esther!  She realized she needed help and found a community of like-minded individuals.  In 2010, they became a 501(c)(3) organization called “Alexander’s Angels, Inc.”  More than 30 people help Alexander’s Angels, Inc. as board members, officers, and members of various committees.

All those hands come in handy as Alexander’s Angels has gone on to organize an exhibition, DOWNrightART, featuring the artwork of individuals with Down syndrome, and panel presentations on Down syndrome at local colleges and businesses.

These activities have allowed Alexander’s Angels to contribute very generously to the LuMind Foundation’s mission of advancing cognition research for people living with Down syndrome.  When asked why she made the decision early on to emphasize research, Esther Gómez-Nieto says that she realized that when you support research, you’re aren’t just supporting your child, your grandchild, or your local community.  You are supporting every person with Down syndrome in the world, because discoveries made in the lab will impact people with Down syndrome everywhere.

We at LuMind Research Down Syndrome are so grateful for Esther and her wonderful organization, Alexander’s Angels.  Thank you for your generous support of our common mission to fund cognitive research to help people with Down syndrome lead more productive and independent lives.

To learn more about Alexander’s Angels, you can go to their website at http://www.alexandersangels.org.

Alexander may have been shy, but his family enjoyed the day at the aquarium.

Alexander’s Angels families enjoying the sights at the Long Island Aquarium & Exhibition Center.

Here’s a Walk team in front of the shark tank at the Alexander’s Angel WDSD event.

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!

Q&A With Dr. William Mobley

Did you attend our webinar in January and ask a question that wasn’t answered? Dr. William Mobley has the answers!

Dr. Mobley from the University of California, San Diego’s Down Syndrome Center for Research and Treatment and Dr. Jamie Edgin from the University of Arizona’s Down Syndrome Research Group spoke at our webinar on January 29, 2015. Thank you, Dr. Mobley and Dr. Edgin – and all the people who attended the webinar. To listen to a copy, please click here.

What is the number of copies of APP with typical Trisomy 21?

The answer is 3.  This is due to the presence of an extra copy of the entire 21st chromosome, which harbors the gene for APP and as many as 500 other genes.

Would inhibiting DYRK1A be beneficial?

Quite possibly.  What is not clear at present is exactly what changes in the Ds brain are due to the extra copy of the gene for this protein. What we do know is that it is an enzyme that acts on a number of neuronal functions and that an increase in the amount of this protein is likely to cause changes that impact normal function. A number of labs are working on this problem, including ours [UC San Diego Down Syndrome Center for Research and Treatment], and more data should be coming forward in the next few years. An ongoing trial of a non-specific inhibitor of this protein may provide important insights into what might be accomplished by creating treatments that would reduce its levels or effects.

What ages could benefit from the therapies that were discussed?

A good question.  Our studies and others focused on increased inhibition might well lead to treatments that would be given to children.

Our studies on APP target age-related changes in neurons and logically would be administered to adults.  But since the problems that an increased number of the APP gene causes are already detected in young people, we envision that such treatments may ultimately also be given to children.

The vaccine that targets a product of APP that I discussed will be first be administered to adults but then might well used in young adults and possibly children.

Can you tell us more about endosomal enlargement – timing, APP dose-dependence and tests?

Endosomal enlargement is indeed present in the very young brain and is a direct consequence of increased levels of APP. It is almost certainly seen in all people who have the full Trisomy 21.  The test for this would therefore be the test which shows whether or not someone is a full or partial trisomy. More sophisticated tests aimed at defining the number of APP genes present in the genome would also be useful, but I would suggest that the simply karyotype test should suffice for almost everyone with Down syndrome.

 

 

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.

Take Stock in Year-End Giving: More Than a Tax Deduction

(Photo credit: https://www.flickr.com/photos/herval/51039207/in/photostream/)

When the stock market does well, it offers an opportunity for people to do good.

Thank you to the many people who have contacted us about making generous year-end donations of stock. We are especially touched by the number of grandparents who are supporting their grandchildren with a donation to fund cognition research.

It’s easy to complete a stock transfer, just provide our information (below) to your financial management firm:

• Receiving firm name: Merrill Lynch
• Receiving Firm DTC Number: 5198
• Receiving Account Title: Down Syndrome Research and Treatment Foundation
• Receiving Account Number: 8L7-01B97

While our new name is LuMind Foundation, our account is still set up as the Down Syndrome Research and Treatment Foundation. Your tax-deductible gift will still get to us.

We appreciate everyone who is bullish on cognition research!

Give With Your Head As Well As Your Heart

Many people who support our foundation have a loved one with Down syndrome, so you may think their commitment to supporting cognition research is solely an emotional decision. But making a donation to LuMind RDS is a smart investment, too.

• Since 2004, LuMind RDS has achieved unprecedented results – identifying nine drug targets and leading to four clinical trials.
• We understand the drug discovery and development process and keep the end goal – effective, safe drug therapies – in sight.
• Strong collaborations with both academia and biopharma bring together all the pieces necessary for making therapeutics a reality sooner. When the research is ready for the next step, so are all the players.
• We engage with Ds community to educate on research, obtain participants for clinical trials, and learn the issues of importance to them.
• We have a deep network with scientists in Ds, cognition research, and Alzheimer’s disease research, too, and encourage collaboration between them.
• We are internationally focused. We look for the most transformative and best research, anywhere.
• Our strong ties with the National Institutes of Health allowed us to help develop the DS-Connect® registry and participate on the DS Consortium project – to promote the health and research for the Ds community.
• We insist on a high quality team and Scientific Advisory Board to identify the most promising lines of research.
• Thanks to an ambitious vision and your donations, together we are making a significant difference in the world of Down syndrome research and Alzheimer’s disease research.

Bottom line: We have an outstanding track record and our targeted strategy has proven effective and efficient. 

Whether or not you have a loved one with Down syndrome, supporting LuMind RDS and cognition research allows you to give with your head as well as your heart. Thank you.

Visit our Annual Appeal page to make a donation today.

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.