Liz Marfia-Ash is the President and Founder of GRIN2B Foundation. She lives just outside Chicago, Illinois with her husband and three children and is a very busy working Mom.
By Guest Blogger, Phil Ash, GRIN2B Foundation Board Member
Hello! This is Phil Ash, teacher, father, Board Member of the GRIN2B Foundation, and the host of Celebrating Rare: The GRIN2B Podcast. In this episode, the podcast takes a bit of a turn for the better (at least I think). I welcome the first guests to the program. The hope is that most future episodes will feature guests. I want to host both parents and prominent medical professionals so listeners can gain different points of views and perspectives regarding GRIN2B variations. This episode features Brittaney and Mike Crider. Brittaney and Mike are the parents of 7-year-old, Natalie, who was diagnosed with GRIN2B in 2016. Brittaney is also a Founding Board Member for GRIN2B Foundation. The conversation went very well and lasted quite a long time, so I thought it would be prudent to break it up into two parts. In this first part of the episode, Brittaney and Mike discuss who Natalie is as a person, provide their story of how they discovered Natalie’s GRIN2B variation and reflect on how living with a GRIN2B diagnosis has changed them.
Brittaney and Mike Crider at the 1st GRIN2B Foundation Family Conference, September 2018
I should also note that Brittaney and Mike specifically mentioned board President Liz Marfia-Ash’s first article on The Mighty about GRIN2B, and how it helped their family cope with the initial diagnosis. You can read that article here. I hope it will continue to help future families discover our organization and realize they are not alone! We’re here to help and provide support!
Check back in a few days for Part two of my conversation with Brittaney and Mike!
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, GRIN2B Foundation, any guests or contributors to the podcast, or any employees, associates, or affiliates of GRIN2B Foundation be responsible for damages arising from use of the podcast.
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 Guest Blogger and Parent Advocate, Christina Dyck
June 17th – 23rd, 2018 is Rare Chromosome Disorder Awareness Week. In conjunction with this week, we are celebrating Bee Happy Day on June 19th. This is our 2nd time celebrating this day after being organized last year by Mom, Christina Dyck. We are honored to have Christina write this guest blog for us.
When our daughter, Leighton, was two-and-a-half years old, we finally got her diagnosis: a chromosomal deletion, including the gene GRIN2B. It was a long journey to get the diagnosis. I remember crying in bed one night, telling my husband, “I don’t know how to be a mom to a child with special needs.” I remember my husband’s response clearly. “But you’re already her mom.”
People from all walks of life parent children with special needs. We have parents in our Facebook parent support group from all over the world. Special needs don’t discriminate. You don’t need a university degree or a “Parenting Special Needs 101” (Seriously…someone write that. I could use a copy.). There are a few things that come in handy when parenting a child with special needs.
1. A Tribe
Whether it’s an online support group, a Mom and Tot play group, or a group of ladies or guys that meets once a month, find someone. You will need a group of people you can talk to. People who can celebrate with you when your child meets milestones that most parents don’t even remember. People who you can talk to on the hard days who will “get it”. No judgement, just love. Although I haven’t met any of the people in our parent support group in person, I feel like I know so many of them. I hurt with them when they’re having bad days. I tear up when the parents post a new accomplishment for their child.
2. A Sense of Humour/Positive Attitude
There are going to be many days you will want to throw in the towel. Most parents have experienced days like this. With special needs, though, the future may seem daunting, and stages feel like they will never end. You will need to find the funny in situations. You will need to find some positives.
Some examples:
-Yes, my daughter had a meltdown in the grocery store AGAIN, but it lasted half as long as last time, and there were only 20 other people in the store.
-Yes, she hit someone AGAIN, but she used words! “I don’t like that, don’t do that.” Seven words!
3. Extra Room in Your Heart
Kids with special needs have a way of wiggling themselves into your heart. Leighton tends to seek out people who aren’t necessarily “kids people” and hang out with them until they love her. She gives the best hugs and snuggles. She can make me laugh like nobody else. I could never count the amount of people she’s made smile.
With the right support and the right attitude, you will not only survive, you will thrive. Your child with special needs will make you a better person, and you will start to see strengths in yourself you never knew were there.
I’m not saying parenting a child with special needs is easy. It is FAR from easy. It is the hardest thing I have ever done. What I am saying, is that you can do it.
Christina Dyck is a domestic engineer, and a mom of three: Paisley June (9), Leighton Capri (7), and Griffin David (the *lovely* age of 3). She and her husband, David, their children and Winnie the dog call a small town in Saskatchewan home. Lover of coffee and all desserts, Christina enjoys watching reruns of The Office and playing Candy Crush in her non-existent spare time.
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!
By Guest Blogger, Phil Ash, GRIN2B Foundation Board Member
Hello! This is Phil Ash, teacher, father, Treasurer of the GRIN2B Foundation, and the host of Celebrating Rare: The GRIN2B Podcast. It took until the very last day of GRIN2B Awareness Month, but, as promised, here is the first episode of our very own podcast, Celebrating Rare: The GRIN2B Podcast. When The GRIN2B Foundation started planning our #Grin2bAwareness month, I thought this would be a small way I could contribute to the cause. I am a radio and television teacher, and using media to connect and inform GRIN2B families sounded like a good idea. I hope you enjoy the listen, and understand that we will get better as we go along. This first one will hopefully be unique, in that it only features my voice. Over time, I hope to bring in other GRIN2B family members as guests so they can add their voices to each episode and share their own personal journeys with GRIN2B.
Even though I have done live radio countless times, this was the first time I have produced a podcast, and I was a little unprepared for the process. In live radio, you open your mouth, say stuff, read off of a page, and hope for the best. Most errors are understandable, as no live production is ever perfect. Human error is always a presence. Podcasts are different in that they are recorded beforehand. Despite this, I still treated the production process as if it were a live situation, and, consequently, there are some mistakes I want to point out for you all. First, I refer to GRIN2B as a protein we all have, when in fact, GRIN2B is a gene that encodes our proteins. I also state that GRIN2B affects our NMDA receptors, but I continually refer to this by an incorrect abbreviation, calling them NDMA receptors. Did I mention we’ll get better at this? In spite of these obvious mistakes and a few others, I hope you’ll enjoy the podcast and the spirit in which it was intended: to connect and inform listeners. 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, Parent and Founder of GRIN2B Foundation
Recently, about twenty people from our GRIN2B parent community participated in a webinar hosted by Simon’s VIP Connect (a research initiative studying many different genetic changes associated with developmental delay and Autism). During this webinar, we listened as a doctor from Simon’s VIP presented a summary of the data on the families who have signed up for their GRIN2B registry. For me, this experience was simultaneously HEARTWARMING, ENCOURAGING, FRUSTRATING and MIRACULOUS.
HEARTWARMING to hear each parent introduce themselves. We have bonded pretty intensely in our private Facebook group by sharing all the highs and lows of dealing with this mysterious rare condition, and we have become a little family; a family that is spread all over the world. To finally hear the voices of other parents on this same journey and to participate in this group event was surreal.
ENCOURAGING because this is just the beginning. We will have more webinars. Our numbers will increase. More research will be done. But we, the parents, have to push for this. We have to be proactive and drive the research. Though only about twenty families have completed the registration process through Simon’s VIP, I, along with the rest of the GRIN2B Foundation board members, will continue to encourage more families to register. Is the registration process time-consuming? Yes. But it’s so important. The data collected in our GRIN2B registry will be available to any interested researcher. And you receive Amazon gift cards for completing the registration process. My kid is getting an extra sweet Christmas present this year thanks to these gift cards.
FRUSTRATING because I know we want answers, we want treatments, we want to understand how our kids’ brains work and what interventions we can use to best help them. I can’t speak for every parent, but I know I am hungry for information on how to best help my daughter. Unfortunately, there is not enough data available to provide us with concrete answers right now. With this being our first webinar, the data presented was pretty basic for those that are not new to this diagnosis. You guys, I get it, this SUCKS. I have had days (a lot lately) where I can’t decide if I’d rather put my fist through a wall, drink several glasses of wine or stay up all night researching GRIN2B and how we can best move forward. I have this weird dual personality where, on the one hand, I hate that every doctor appointment I go to feels somewhat pointless. All anyone can do is guess as to what is going on, and I leave each appointment with half a dozen things to research. But on the other hand, I get it. Doctors and researchers aren’t magical, all-knowing miracle workers. GRIN2B is in its infancy of being studied, diagnosed and understood. I do believe that most of our doctors are doing their best to help us, but, in the end, it’s not their kid, and they don’t have the sense of urgency we have. It’s hard and unbelievably unfair.
MIRACULOUS because we have come SO FAR, YOU GUYS. Seriously. Fellow GRIN2B parents, do not lose hope. Well, actually, I take that back. It’s okay. Lose hope, but just do it for a day or a week. And then keep going. Three years ago, on the day after Thanksgiving, my husband and I sat in our Geneticist’s office and received the news of the GRIN2B diagnosis. We were told there were only about ten others with this mutation. There was no support group, no Foundation, no website, no blog posts, not even a lousy pamphlet to read. I knew nothing back then about just how rare a disorder could actually be and that day changed everything.
Look at where we are. Look at where we started. – Hamilton
As one of the Admins of our Private Parent Group on Facebook, I can tell you that more families are joining every week, which means more individuals are being diagnosed. Our numbers are growing. I totally respect that not everyone is comfortable with participating in Research. BUT BUT BUT we cannot expect or hope for change or answers by doing nothing and waiting. It was pointed out during the webinar that the gene that causes Cystic Fibrosis was first discovered in 1989. The first FDA approved treatment, addressing the underlying cause of CF, was not until 2012. Let’s do the math. That’s after 23 years of research. Science is definitely moving faster than it was in 1989, but, we cannot sit on our butts and do NOTHING. I’m saying (well, really writing) all of this in my most stern, but affectionate “Mom” voice. We have a LOT of work to do.
I know this is not easy, and the road ahead can seem bleak at times. I KNOW you’re all exhausted and worried because I am too. I have never been one of those happy-go-lucky people who looks on the bright side. I’m a worrier at heart, and I have had to re-train my brain to focus on the positives since the diagnosis.
As we’re wrapping up Thanksgiving weekend here in America, let’s reflect on what we have to be thankful for:
A growing community of GRIN2B families from all over the world, committed to supporting each other. Just three days after receiving my daughter’s diagnosis in 2014, I found my first fellow GRIN2B mom, Donna Dunn, through another special needs Facebook group, and I was the first person to join her in the private GRIN2B parent group she had created. Now, three years later, we have over 100 families in our group.
We will soon be raising $$$ for GRIN2B research, support and education for families. We are still waiting to receive our official 501c3 non-profit status, but look for ways to donate/get involved in 2018.
We are tentatively planning a GRIN2B family conference (with medical speakers) for Fall 2018. We’ll share more details early next year.
Our first GRIN2B Awareness month in March!
As our Board of Directors and our community of GRIN2B families looks to the future, we need to remain patient and organized. It’s easy for me to sit here and type these nice, inspiring words, but I totally get that in our day-to-day lives, it is hard to remain patient. On those days my daughter is struggling, and I am spinning around in circles trying to find solutions, I admit I sometimes want to quit. I pull my hair out and curse GRIN2B and all these damn unknowns. But then I keep going, because really, what is the alternative? Our Foundation is getting off to an admittedly slow start, but that’s life. If you have any suggestions for ways to improve the website, the organization of our group or have any leads on fundraising or research, we welcome your ideas. Feel free to email myself or any board member at info@grin2b.com or message me through Facebook.
To my fellow GRIN2B parents, I have not been very active lately within our Parent Support group due to my even-more-crazier-than-usual life, but please know that I am grateful for each and every one of you. Now, enjoy what’s left of your holiday weekend, get some rest, eat all of the leftovers and get ready to kick some GRIN2B butt in the years to come.
P.S.
PLEASE, PLEASE, PLEASE join our GRIN2B registry at Simon’s VIP Connect. It’s so important that we get more data for our registry to share with Researchers. If you’re still not sure what the heck Simon’s VIP Connect is and how it relates to GRIN2B, click here.
Did you miss the webinar? Like our Facebook page and keep watching for updates. As soon as the recording is available, we will share it there.
Sorry for so much all caps in this post! I generally do not approve of excessive use of capitalization, but man oh man, this post really called for it.
By Liz Marfia-Ash, Parent & Founder of GRIN2B Foundation
People often ask us if my daughter, Lucy, is going to be able to do certain things. We alwaysappreciate when people ask questions because sometimes I get the feeling people are scared to talk to us. But we don’t want anyone to feel bad or sad when our answer is generally some version of, “maybe, but we don’t know.” The truth is, no one can really tell us for sure when or if she will be able to do certain things. I can attempt to guess based on some of the families I’ve connected with online who have older children, but my guesses are not by any means set in stone. And while there are certainly days where we’re frustrated or worried or sad about what we don’t know or what we’re trying to help her achieve; most of the time, we are pretty accepting of the unknowns. They are our “new normal.”
But we didn’t always feel this way. We were pretty apprehensive about all those unknowns after our daughter received her genetic diagnosis (a mutation on her GRIN2B gene) just over two years ago.
Since then, I have spent A LOT of time reading countless blogs and websites and articles and books and meeting wonderful people with differing life experiences, and all of those interactions have led me to some pretty life-altering realizations.
If Lucy is someday able to mainstream into a regular education classroom, great. We’ll love her and be super proud of all she’s accomplished.
If she stays in a special education setting for the duration of her school years, great. We’ll take comfort that she’s in the safest possible environment, and we’ll love her and be super proud of all she’s accomplished.
If we get to hear her voice one day, we’ll cry and rejoice and delight in whatever conversations she’s capable of having.
If she remains non-verbal, that won’t change anything. We’ll continue pushing forward with sign language and working on her communication device. Communication comes in many forms. The voice is just one of them. And Lucy has already proven, based on actions, that she has strong opinions and wants to communicate with us. It is our job to provide her with as many forms of alternative communication as we can.
If Lucy is able to live on her own one day or live amongst a community of adults with developmental differences, great. We’ll love her and be super proud that she’s spreading her wings.
If she lives with us into adulthood, also great. We’ll love her and we’ll be super excited to have a good buddy to keep us company in our old age.
My daughter was not put on this earth to make us feel sad or grieve what could have been. She is not here for us to “fix” or conform to some standards of “norm.” “Normal is a setting on a washing machine.” – Christopher Barzak
She was also not put on this earth to inspire us. Lucy hasinspired us and those around her to believe in endless possibilities, but that is not her sole purpose.
I believe there must be a happy medium where we will do what we can to give her the tools and encouragement to be whatever she’s meant to be AND also teach society that disability is beautiful and not a mistake and has been a normal part of human existence since the beginning of time.
I don’t know exactly what her future looks like, but I do know this: I will NOT let my daughter’s worth be defined by society’s measure of her intelligence. Her success will not be defined by whether or not she can “catch up.”
My Lucy will be no more or no less than what she is meant to be. A delightfully curious, giggly girl, a daughter, a sister, a cousin, a niece, a granddaughter, a friend. A human being who’s “practically perfect in every way.”
CAVEAT
Though the tone of this piece is one of acceptance and positivity, it is not meant to assume that our life is now easy-breezy and carefree (but really, whose life is?). Because Lucy’s disability is somewhat invisible, we regularly deal with tricky situations that most people may not be aware of. Since my daughter cannot currently give permission for me to write about her, I feel an immense responsibility to portray her in a respectful way and keep some of the harder stuff private. In all honesty, there will always be things that will be challenging for our family. As Lucy gets older, and the differences become more obvious, I fear the challenges will increase. My hope is we will always try to combat each obstacle with as much grace and positivity as we can muster.
