Home » Acceptance

Tag: Acceptance

Reflections on my first Global Genes Rare Patient Advocacy Summit

By Liz Marfia-Ash, President & Founder of GRIN2B Foundation, Parent Advocate

On Wednesday, October 3rd, I attended the 7th Global 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.

#2018GGsummit

#GRIN2B

#rare

 

 

Leighton in a raincoat

Three Things You Need to Parent a Child with Special Needs

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.

Celebrating Rare: The GRIN2B Podcast, Episode 1

Celebrating Rare: The GRIN2B Podcast, Episode 1

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.

 

Accepting Our New Normal

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 always appreciate 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 has inspired 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.