E-Newsletter | October 2019
A message from Emily Dziedzic, Secretary of Team Telomere and Katie Stevens, Executive Director
Team Telomere's Time to Shine
Dine, Dance and Donate

We proudly hosted the second annual Dine, Dance and Donate on September 13, 2019 at the Hotel Commonwealth in Boston, MA. It was a lovely evening bringing together Team Telomere families, board members, friends, physicians, and generous sponsors. We offered 43 silent auction items, enjoyed delicious food, and danced to the beats offered by Finesse. We also had the extreme pleasure of honoring Sonia Bhala and Dena Paffas as the Executive Director’s Choice, Lisa Helms-Guba for Excellence in Community, and Dr. Suneet Agarwal for Excellence in Medicine. Megan Colter and Evan Cornelius were the inaugural recipients of the Nancy Cornelius Scholarship to help support their collegiate endeavors.

In addition to the Dine, Dance and Donate, Team Telomere hosted the 6 th  family day of 2019 on Thursday, September 12. Seven families participated in the clinic day at Boston Children’s Hospital, with a sibling afternoon running concurrently.

To make the weekend even more rich, the CCCTAA met on Friday and Saturday, September 13 and 14, to continue the conversations around liver and lung disease as it relates to Telomere Biology Disorders. We want to reiterate our gratitude to the sponsors who helped make this all possible: Ultragenyx, W&J Dairy, Gilbert and Becker, RepeatDX, and the UMPC. We are grateful to Finesse for providing music and entertainment and to James Jesson for the photography. It was a beautiful weekend of connection, education, and celebration and we couldn’t have done it without these people! Keep an eye out for 2020 Dine, Dance and Donate details, more to follow!
Global Genes Summit

Once a year the greater rare disease community gathers to unite as one group, to learn, grow and develop together at the Global Genes Summit. It is a time when advocates have our cups refilled as we remember that nothing in rare moves forward without our voice.

It is also a time when members from Team Telomere gather together to become better educated as advocates. It's when I can count on the word "team" when I am asked into meetings or to speak with and teach fellow advocates. I am in awe of each person that shows up to be better either for themselves, their loved one, or their community. It is important time that I personally look forward to each year.

We had friends fly from Israel (my big brother Noam) to be connected, to learn, to feel like we are a part of something bigger than the disease(s). It's bigger than us. And that's exactly what Global Genes gives us - purpose in the big picture.

I will be forever grateful for this year in particular, that brought many of us back together again, and gave Team Telomere opportunity to mentor and we were invited as the closing keynote speaker (you can listen to the live podcast here ) . We have come a long way in a short time, and as Kristen Schmendly profoundly quoted Abby Wambach, "I've never made a goal in my life without getting a pass from someone else". How true is this in rare? We have to receive the pass from those that have come before us, to make the goals that bring us closer to the wins in rare. We all need the team surrounding us, and each player plays such an important role. If we, in leadership, keep doing our part, we know the whole of the team will keep doing theirs.

Emily and Katie
Nancy Cornelius Scholarship Fund Recipients
Congratulations to Evan Cornelius and Megan Colter, the first recipients of the Nancy Cornelius Scholarship Fund. Evan and Megan have received $1,000 each this year to use towards their college career! We wish them the very best!

Learn more about the NCSF
Welcome to the Board

We have had a lot of movement the last few weeks with our leadership of Team Telomere. We would like to welcome Collen Verkaik as Board President, Ke ndall Davis as Vice President, and Jeni Colter , Tara Hackwelder , and Allison Kiene as Board members. We are excited to watch our community benefit from these amazing women! To learn more about them, read their bios here .
Family Story
Still Searching
by Tara Hackwylder
Our family lives in Chicora, PA, which is located in the rolling hills of western Pennsylvania. My husband (Jason) and I have two beautiful children and a St. Bernard. Jason is a 9th grade U.S. History teacher at our local high school, and I am a stay-at-home mom, editor, and recently became a member of the Board of Directors for Team Telomere. Our son, Celtan, is 9 years old and is involved in many different activities, loves to read, is learning to play the guitar, and loves music. He is an excellent, caring, and compassionate big brother to Elizabeth, and he has bravely navigated the world of being a rare disease sibling.

Our daughter, Elizabeth, is 6 years old and has multiple diagnoses and truly embodies bravery, grace, hope, and determination in her battle with rare disease.
Elizabeth’s primary diagnoses are ZTTK Syndrome and Telomere Biology Disease. In 2017, due to continued hematological issues, Elizabeth had further genetic testing done, which confirmed shortened telomeres. Elizabeth currently does not have an identified genetic mutation for TBD in her genome. Both of her primary syndromes, ZTTK and TBD, have caused multiple multisystemic diagnoses. 

Elizabeth celebrated her 6th birthday in May 2019. There have been so many times in Elizabeth’s life that we have almost lost her. We do not know what our days will hold. That is not something that is unique to rare disease, but those of us who live with and care for someone with a rare disease understand the precious nature of time more intimately. Our motto is: “Birthdays mean more when you have to fight for them.” Elizabeth has certainly fought for all 6 of her birthdays. We will continue to be by her side, as she fights for as many more birthdays as her story will allow. 

Elizabeth is such a joy to our lives and to everyone she meets. Her laugh is contagious, and her smile is infectious. She is strong, brave, and beautiful, and is a true gift to our family and to this world. Her story is one of hope. Her story, our story, is one of love. Her story is one of survival. Her story is one of perseverance. We have become greater advocates and stronger people because of her. We are forever grateful for our little billion-dollar miracle and for the rare disease family that we have gained along the way.
Diagnostics and Research in the Telomere Field
by Geraldine Aubert, PhD
For this article, I chose to write a little bit about the different categories or ‘flavors’ of scientific and medical research that are relevant to the TBD community. As you will see, these categories are all interconnected, much like the pieces of a puzzle. 

In the beginning…
All research projects start with a new idea or hypothesis, which will need be tested against what we already know. They are designed to control for variables and ultimately lead to improvements in current medical practice. This is how knowledge and medical interventions can advance, with the ultimate goal of improving care for individuals with TBDs - and all diseases, for that matter.

The first research category is Basic research, also known as fundamental research. The results define how we understand the inner workings of biology at the molecular level. For example, when a new TBD causing gene is identified, basic research allows us to figure out how the gene functions and how mutations can lead to, or play a role in TBDs. This research typically provides the foundation of knowledge that leads to our second category of research – translational research.

The second category, translational or applied research, typically aims to identify and test interventions that can correct or have a positive measurable effect in a laboratory setting. For example, the identification of a new TBD gene or biological process involved in TBDs can lead to the development of a candidate drug that could be beneficial. This will then be tested in a laboratory setting (in cells derived from patient samples or in model systems reproducing what happens in patient samples). 

If this testing is successful, it will lead us to the third category of research which are clinical research and clinical trials. At this stage, a novel approach is tested for a beneficial effect, above and beyond the best currently available medical approach. In this type of research, the individual affected will be directly involved in the testing of a new drug or procedure (that has already been shown to work in principle in the previous research categories). Clinical trials aim to answer the following questions: Is it safe? Does it have any other effects (desirable or not)? Does it have the intended benefit?

So which research category is more important? Well, the ‘take home’ message is that they all are, and they are not mutually exclusive. So, it may be possible to participate in several research studies that each may be in a different category. Although progression between research categories is most often from basic to translational to clinical, this is not always the case. 

And the most important part is the active participation of individuals affected by TBDs and their families! None of this is possible without your involvement in each of the different categories of research. You are that essential corner piece of the research puzzle where everything starts and connects back to.
What's Coming Up
by Dena Paffas

Pulmonary Fibrosis Foundation Summit
November 7, 2019
Repeat Diagnostics will kindly be representing Team Telomere on our behalf

Family Chat
Dr. Suneet Agarwal, Boston Children's Hospital

First Annual Team Telomere Turkey Trot

Giving Tuesday
December 3, 2019
Learn more about last year's success !

American Society of Hematology Conference
December 6-10, 2019
Travel sponsored by Repeat Dx

Thank you!
Since our last newsletter...


Teeing Off Against DC, Huiras Family $4,231
#10kSTEPSforaCURE (to date) $3,200
PayPal Giving Fund Grant $1,135
Brad and Susan Thompson $1,000
Pre-Loved Wedding Sale hosted by the Wyrebank $755
Hope for Harper Quiz Night $640
Delia Alberts' Happy Birthday fund $200


Dr. Don Hayes, participation in October Family Chat
CCCTAA members that participated in the
Major Complications of
Dyskeratosis Congenita/Telomere Biology Disorders Meeting
Jeni Colter, Lorna Laplante, Noam Baumatz and Tara Hackwelder for attending the Global Genes Summit
Jeni Colter & Nicole Bjerke attending meetings at Mayo Clinic
Dine, Dance and Donate

Thank you to each of our attendees, donors, auction winners and the team that made this beautiful evening such a huge success.
As one Team Telomere member noted
"It was like being at Camp Sunshine, where you can be with your community, and allowing those outside the community to view what is we do. A true celebration of advocacy, outreach and research."

We were able to help develop another clinic day with Boston Children's Hospital, and we hosted the CCCTAA meeting that will help science move forward and created more collaborations across many disciplines.

Thanks to everyone that participated and donated!
$11,500 in sponsorship for the DDD
$6,000 with the silent auction
$1,900 with our 50/50
$1,400 in donations

We look forward to seeing you in Boston 2020 for the 3rd Annual Dine, Dance and Donate!
Partners in Advocacy Spotlight
by Katie Stevens
Dr. David Fajgenbaum

Team Telomere is excited to launch our Partner's in Advocacy section to our newsletter. We believe that we can all learn from one another; even though we are rare, we are not unique in our journeys!
This month we chose Dr. David Fajgenbaum, co-founder and Executive Director of Castleman Disease Collaborative Network . David has been a mentor to Team Telomere and his story inspires us to do more to find answers! Read his book:
Click the image below to learn more about David's story.
Team Telomere, Inc. 501(c)3
Communications Committee | Team Telomere |  dpaffas@teamtelomere.org