By Guest Blogger, Phil Ash, GRIN2B Foundation Board Member
Hello! This is Phil Ash, teacher, father, Board Member for GRIN2B Foundation, and the host of Celebrating Rare: The GRIN2B Podcast. In this latest episode, I share my personal thoughts and reflections from GRIN2B Foundation’s first family conference, which took place on September 21st and 22nd in Atlanta, Georgia. We are working on a written recap as well and are still gathering and editing content provided to us by our Researchers, Board Members and Parent Attendees. We will share this written recap in the next few weeks, hopefully!
Just like before, I have a few corrections and updates to share with you. First, I managed to mispronounce our lovely Board member, Carole Quennessen’s last name. It’s correctly pronounced KEN-ES-SEN. Sorry, Carole!
Also, I am pleased to share that Simons VIP Connect is working on re-branding and revamping their website, and they plan to add many languages to the site over the next year. As soon as this new website launches, we will share this with our community. This is truly exciting news as it will help international families connect with Simons and share their family data to their medical registries. Increasing the amount of GRIN2B patient data within these medical research databases is vital to furthering research and developing possible treatments in the future.
If you have comments or suggestions for future topics, or are interested in being a guest on future episodes, please send an email to phil.ash@grin2b.com or send a tweet to @grin2bsyndrome, using the hashtag, #CelebratingRare.
To further protect myself from any unintended mistakes, each episode will have the following written disclaimer when you click on the link:
PODCAST Disclaimer: While I make every effort to broadcast correct information, I am still learning. I make every effort to double check my facts, but realize that medicine is a constantly changing science and art. I am simply sharing my views and personal experiences as a GRIN2B parent. I am not a medical professional. I welcome any comments, suggestions, or correction of errors. This entire disclaimer also applies to any guests or contributors to the podcast. Under no circumstances shall Phillip Ash, The GRIN2B Foundation, any guests or contributors to the podcast, or any employees, associates, or affiliates of The GRIN2B Foundation be responsible for damages arising from use of the podcast.
By Liz Marfia-Ash, President & Founder of GRIN2B Foundation, Parent Advocate
On Wednesday, October 3rd, I attended the 7thGlobal Genes Rare Patient Advocacy Summit and I wanted to share my experience with our GRIN2B community. Possibly you might be thinking, “Wait a second, you’re going to tell us about the Global Genes Conference, but when are you going to fill us in on the GRIN2B Atlanta conference that took place in September?” Totally valid question. We are working on a newsletter that will recap the GRIN2B Conference experience and we are waiting on contributions from Board members, Researchers and Attendees. I promise, we will share all the details on our GRIN2B conference as well as videos of the presentations as soon as we can pull everything together.
In the meantime, I am coming off such a high from being surrounded by so many other like-minded individuals and I spent much of my 7 am flight home writing this blog.
If you’re not familiar with Global Genes, let me fill you in. Global Genes was founded in 2008 with the goal of helping families affected by rare disease connect with tools, resources, and much needed support, helping eliminate the challenges of rare disease. This year’s Summit was attended by eight hundred rare disease organizations, patients, advocates and partners. The resources that Global Genes offers via their website were integral in the early days of forming our Foundation.
Global Genes also offers a Foundation Alliance membership, bringing together rare disease foundations with a shared commitment to advocacy in order to build a stronger collective voice for the rare disease community. We are proud to be part of this Alliance and have made many valuable connections to other Alliance organizations.
The Summit took place this year at the beautiful Hotel Irvine in Irvine, California. Personal note, I had previously lived in California (near Los Angeles) for 9 years after graduating college and this trip was my first time back to California since moving away about 8 years ago. It’s a long flight, and I have not travelled much since having kids, but it was good to be back in sunny Cali and see the palm trees.
Due to my very busy work schedule and, you know, life, I was only able to attend the first day of the Conference – Wednesday. As we had all just traveled a week and a half ago for our GRIN2B conference in Atlanta, none of our other Board members were able to attend this event with me. A fellow GRIN2B parent, Pat, did attend with me, though I unfortunately barely saw him as we mostly attended different sessions.
There are bees everywhere!
In addition to soaking up all the rare disease knowledge, I was also very excited to connect in person with rare disease leaders at other organizations that I had previously only known via phone, Facebook or email.
I spent a large chunk of time in between sessions with my two co-President friends, Allison from SATB2 Gene Foundation and Haley from SETBP1 Society. SATB2 Gene Foundation started roughly around the same time we did and SETBP1 Society is just a little bit ahead of us. I have received so much valuable advice and support from these two lovely ladies via phone and email so it was a joy to meet them in person and trade notes.
I also had the privilege of meeting up with Amanda from The International CDKL5 Foundation. The IFCR has been around for 9 years and Amanda has been on the Board for a long time. Amanda and IFCR’s Science Director, Heidi had previously shared much of their wisdom on how to set up best practices in establishing a research grant application process. I am a bit of a rare disease organization groupie and I spend a lot of time cyber stalking other organizations so I can learn from what they are doing. It was a true pleasure to finally meet my mentors and peers in person.
Thank you to Global Genes for not only providing our #rare community such a warm environment to collaborate with our peers and mentors, but for also selecting an amazing roster of inspirational speakers.
The Keynote speaker on Wednesday was the vibrant and lovely Rachel Callander who shared her tear-inducing, uplifting speech about her book and movement, Super Power Baby Project.
Her message was about the power of using positive words when it comes to speaking about our #rare children. These words spoke right to my heart. Those that were at the GRIN2B Atlanta Conference a few weeks ago know that I shared a similar message in my opening remarks. (We will have this video available for you to watch soon!) Rachel’s story was one that many of us can relate to. When her daughter was born, she was diagnosed with partial Trisomy 9q and Partial Monosomy 6p and Rachel was told that these conditions were “incompatible with life.” Rachel hated the negative terminology and saw her daughter as beautiful and unique and as someone who lived in this world differently and that was okay with her.
Another relatable moment was her stress over having to fill out developmental questionnaires where the answer to every question about what your child can do is inevitably no. In response to this, she created “Evie’s Awesomeness Form.” On this form, she wrote up questions in relation to her daughter that would only receive a yes answer. I love the positive spin she put on this stressful task. When my daughter was a baby, I HATED those forms and eventually started to refuse to fill them out. Thankfully, our pediatrician was very understanding.
Favorite quote from Rachel – “You can’t be diagnosed with your identity.”
Sadly, Rachel’s beautiful daughter, Evie, passed away at the age of 2 ½, but she turned this devastating experience into something beautiful. She traveled all over her native New Zealand, capturing pictures of children with different genetic and chromosomal changes and put them all into the beautiful book, Super Power Baby Project. She also travels the world, giving speeches to encourage the medical community and others about the transformative power of using positive language. This talk was truly the highlight of my day. It’s now several days later and I can’t get this speech out of my mind.
Please watch her TedTalk here or check out her book. I bought a copy for myself and was honored to meet Rachel and get her autograph.
I could probably write for days about all that I saw, heard and experienced here, but none of us have time for that so I’ll sum up my key takeaways from all the sessions I attended throughout the day.
Luke Rosen, Founder of KIF1A.org encouraged us all to use videos as a way to engage Researchers and personalize our disorders. Good thing we have a board member with considerable skills in videography and editing!
I learned a lot about patient registries. We need to establish a centralized registry first before we can begin to move forward. The overarching message here was the importance for patient organizations to own their own data and make it accessible to any interested Researcher.
I spoke with John Wilbanks from Sage Bionetworks about the fact that we do not currently own any of the GRIN2B patient data, but rather several doctors and Simons VIP Connect all have patient data. He assured me that it was fine to keep our data with trusted doctors for now and that we don’t have to immediately leap forward and reinvent the wheel. At some point, he did think it would be good to transfer the data into a centralized registry.
I have information on several free or low cost platforms that we could use in the years to come. Whatever registry we use now and in the future, we will need a robust marketing plan to ensure everyone is utilizing it.
I had the pleasure of eating lunch with Jennifer Tjernagel, Project Manager with Simons VIP Connect. Jennifer had just been at our Atlanta conference a few weeks ago so it was fun to see her again. She revealed that Simons VIP Connect is in the process of re-branding and revamping their website and they plan to add many languages to their website next year. As soon as this new website is launched, we will share this with our community.
John Porter, Chief Science Officer for Myotonic Dystrophy Foundation spoke to the importance of having a science expert on the team who can handle all the correspondence with drug companies and regulatory agencies, as well as respond to inquiries from our patient community.
I loved this slide showing the linear timeline for the drug development process and how it never ends up working out perfectly. There are going to be many bumps in the road and starts and stops in the process. When it comes time for us to have clinical trials, a Science expert on our team will also be helpful to manage expectations. As they wisely said, “Clinical trials are not treatments. Clinical trials are an experiment.” Our Science advisor will need to be able to appropriately deal with these misconceptions.
Though I liked and got a lot out of the scientific sessions, as a writer and someone who believes in the power of words, I am always going to gravitate towards the motivational speakers over the scientific ones.
“Words are, in my not so humble opinion, our most inexhaustible form of magic; capable of both inflicting injury and remedying it.“ –J.K. Rowling
The night ended on a high note with speeches from Mike Porath, founder of the website, The Mighty, and Gunnar Esiason, a young man living with Cystic Fibrosis. Both of their messages were extremely impactful.
Mike was inspired to launch The Mighty after his daughter was diagnosed with Dup15q Syndrome years ago. He saw the isolation he and other families felt and saw a need for a forum to share their stories. He also shared one of their most popular posts, this video, which I have seen many times, but it was somehow more meaningful watching in person, surrounded by fellow rare disease advocates. This was truly a full circle moment for me personally as sharing my family’s #grin2b story on The Mighty two and a half years ago was the beginning of our advocacy journey and is what, ultimately, led to where we are today with the Foundation.
Mike Porath, Founder of The Mighty
The other message Mike shared that truly resonated was the importance of living in the moment. He spoke of how he had spent too much time worrying about what his daughter potentially wasn’t going to be able to do. This really struck a chord as I am a workaholic and not great at living in the moment, often thinking ten steps ahead. But when it comes to my daughter, I have gotten better at not projecting my fears of her future onto how I view her in the present. Our overwhelming feeling as a family is that she is who she is, and we will work hard to give her every opportunity to advance, but still love and cherish her for exactly who she is right now.
The last speaker was Gunnar Esiason, a Cystic Fibrosis patient and advocate. He was honest, engaging, inspiring and very funny. Gunnar is a very vocal advocate for the Cystic Fibrosis community and he shared what it was like growing up not fully understanding why he was different. He wisely advised parents to be open with their children about their diagnosis and to share the realities of any medications and procedures they might need. Also, when possible, parents should ask permission from their child should they choose to share their story publicly. I understand this is going to be difficult for many of our GRIN2B families as the majority of our children have speech limitations. My advice, should you choose to share publicly about your child, is to only share details that you would feel comfortable also sharing about yourself.
This one day event was informative, exciting, uplifting and, honestly, overwhelming. My brain was truly hemorrhaging information by mid-afternoon.
For me, the biggest takeaway was the comforting realization that our organization is on the right track in terms of pace, growth, mission and strategy. Everyone I met and spoke with was very supportive and encouraging and reinforced that we are on the right path. And it was clear that some of the bumps in the road we are dealing with are common problems in this rare disease nonprofit community. I look forward to attending this event next year with more members of GRIN2B Foundation and our parent community.
By Liz Marfia-Ash, Parent and President of GRIN2B Foundation
This past March was a meaningful month for our organization. We celebrated our very first #GRIN2BAwareness month. March was also the first month we were officially approved to receive donations, helping us further our mission of providing support and education to our community and, in time, furthering research on the GRIN2B gene.
We’ve had a huge influx of newly diagnosed parents join our Parent Support group on Facebook over the past year. Now that we’ve completed our first GRIN2B Awareness month, it seems like a good time to share the background on how our organization came together.
Back in November 2015, my daughter, Lucy, was almost 2 ½, and we were about a year into the GRIN2B diagnosis. We had connected with other GRIN2B families on Facebook, but it was probably less than 25 worldwide. None of the families were remotely near us geographically, and my husband and I assumed we’d likely never meet another GRIN2B family in person.
That Fall, we took Lucy to an appointment with her Neurologist at Ann & Robert H. Lurie Children’s Hospital of Chicago. As we were discussing my daughter’s symptoms, the doctor casually referenced another patient he had with a GRIN2B diagnosis. My husband and I were stunned. There was a family dealing with this diagnosis in the same state as us and seeing the same doctor? Obviously, our doctor couldn’t betray confidentiality and give us their info. Based on what little our doctor told us, I was not sure if this family was going to be joining our Facebook group soon. [No judgment here in case that family ever reads this. Every family has their own personal reasons for either wanting to connect or not wanting to connect.]
On our way home, I remember feeling confused. I had been naively assuming every diagnosed family would join our Facebook group, but what if they didn’t? And what if there were more families that weren’t on Facebook and would never find our group?
During that car ride home, I made a reluctant decision. Up to that point, we had only shared the name of Lucy’s diagnosis to close family and friends through email. On Facebook, we kept it purposefully vague; only saying she had received a “rare genetic diagnosis.” But at that moment I knew our Facebook group was limited, and if I wanted to find more families, I would have to write publicly about her diagnosis. I had just written a piece for the website, The Mighty, about being a special needs Mom so I knew that was the right forum to contribute another piece.
I am generally a private person so this was not a step I took lightly. I spoke with my husband at length about the ramifications of what I was considering. As I mulled over what to write for The Mighty about Lucy’s GRIN2B diagnosis in the weeks after this appointment, I came up with the idea to collect all the information that had been shared in the support group and build a website. I realized more families could be found if there was a website that came up after googling “GRIN2B.” With input from the families in the Facebook group, I began compiling information. Over the next year, I created www.grin2b.com, with the help of my sister and brother’s respective Graphic and Web design skills.
But, though I created the website and then, later, the Foundation, it is important to note that another Mom actually created the GRIN2B Parent Support Group.
Rewind to April 2014. A family in Alabama had just learned of their son’s GRIN2B diagnosis. Shortly after, Donna Dunn (our Vice-President) formed a private GRIN2B support group on Facebook. She was the sole member of that group until November 2014, when my daughter was diagnosed the day after Thanksgiving, and I posted about her diagnosis in a different online forum. Donna saw my post and responded, and I became the 2nd member of that GRIN2B support group.
This is Donna’s story in her own words:
We had given up finding a name or a diagnosis or whatever that was causing my sweet baby boy to miss milestones, not talk or sit or walk. My husband and I thought, we’re doing the best we can do, we’re doing any therapy we know of and we’re ok without a diagnosis. Then, I received a call on a Friday afternoon from a genetic counselor in North Carolina. She stated meekly over the phone that they have found something on some panel and it’s a GRIN2B mutation. She then proceeds to say that they do not have any cases that they know of in their lab, but there are some studies from Germany. From what they can tell, she continues, this mutation causes severe cognitive and physical delays. I couldn’t believe what she was saying; my heart fell into my stomach. I couldn’t breathe. In one sentence, this person tried to take away my hope for my child and for my family. Needless to say, I was devastated. I knew Charlie was profoundly impacted by whatever process was going on, but I couldn’t accept there was no hope for the future. So I went home and my husband and I just spent the weekend loving on Charlie, discussing the findings and just being sad. Towards the end of the weekend, we finally realized, this wasn’t the end…it was just a bend in the road. This was our new normal, and we were sure others had experience with this. So we began searching. We found a few families through articles. We also searched social media. I could not find one group for GRIN2B, so in July 2014, I started the group that is now known as GRIN2B Parent Support. I was the sole member until December 2014 and then Liz Marfia-Ash joined. I could not contain my excitement to finally have another parent to discuss issues with concerning GRIN2B. Shortly after that, Charlotte Conrad Johnson joined, and the group has grown considerably since. We now have over 200 members in the GRIN2B parent support group. I’m truly excited about the parent support group, the connections and support it’s created for families all over the world.
-Donna Campbell Dunn, GRIN2B Foundation Vice President
In the Fall of 2016, with the website nearing completion, I realized there was a greater chance of the medical community paying more attention to GRIN2B if we were formally organized. The idea of starting a nonprofit was incredibly daunting, but I was fortunate to be friends with a family whose son had FOXG1 Syndrome. Through that family, I connected with the people at The International FOXG1 Foundation and received invaluable guidance on how to go from parent to nonprofit leader.
First thing I needed was a Board of Directors. Besides myself and my husband, I thought it made the most sense to start with some of the first American parents who joined the Facebook group. Donna Dunn was my obvious first choice since she had started the Facebook group, and she was the first GRIN2B Mom I ever connected with. I was thrilled when she said yes right away. After that, I reached out to the second GRIN2B mom I had found several weeks after connecting with Donna, Charlotte Johnson. I had found Charlotte in a Facebook group about Hypotonia by searching through old posts for “GRIN2B.” For about a month, Charlotte, Donna and I were the only members of the GRIN2B Parent Support Group. The third Mom I reached out to was Carole Quennessen, another of the earliest American Moms to join the Facebook group. Both Charlotte and Carole eagerly agreed to join the Board. It was several months later when Brittaney Crider came onboard. Brittaney had reached out to me immediately after her daughter was diagnosed as she had read my article on The Mighty and was elated to connect with other families.
Since forming our board in 2017, we spent the better part of a year just filling out all the required paperwork to register GRIN2B Foundation as a charitable organization both in our Incorporated state of Illinois and with the United States government (to be honest, I also had a baby during this time, which understandably slowed us down a bit). Our Board members have all donated countless hours filling out paperwork, researching, sending emails, making phone calls and having late night video-conference board meetings in order to lay the groundwork for effectively running this organization. This is not a job that I or any of the Board Members take lightly. We have a LOT to learn, but we are fortunate to be connected to many other organizations that have advised us and will continue to advise us along the way.
Several people from other rare disease nonprofits have wisely advised us to remember that “it’s a marathon, not a sprint.” We are all very eager to jump in and start fulfilling our mission, but we are also trying to take the time to set this organization up correctly and not get too ahead of ourselves. I am truly honored to be working alongside a group of people that are dedicated to not only bettering the lives of their own GRIN2B children, but all individuals affected by a GRIN2B change. When we are meeting and making our plans, we are always thinking, first and foremost, about the most effective ways to serve our entire community. All of GRIN2B Foundation’s board members possess an abundance of intellect, integrity, common sense and determination.
In addition to our work during the Awareness month, our Board of Directors have been busy recruiting Medical professionals for our newly established Medical Advisory Board, contacting various individuals and organizations worldwide that are presently studying GRIN2B to begin to understand how we can work together, planning a GRIN2B Foundation Family Conference in Atlanta this September and numerous other special projects. It’s kind of a lot for a group that is entirely run by parent volunteers.
To our GRIN2B families, we look forward to serving you and hope to meet many of you at our Conference in September. Many of you have asked how you can help. We are working on plans to create several committees to help us fulfill our mission and will be posting information on ways you can be involved in the coming months. We thank you in advance for your patience as we put our internal structure into place.
Please email us at info@grin2b.com if you have any questions.
We will be adding bios of our board members to our website soon, as well as posting the names and bios of our Medical Advisory Board. Stay tuned!
