Home » Archives for Liz Marfia-Ash » Page 3

Author: Liz Marfia-Ash

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.

Celebrating Rare: The GRIN2B Podcast, Episode 4

By Guest Blogger, Phil Ash, GRIN2B Foundation Board Member

Hello! This is Phil Ash, teacher, father, Board Member of GRIN2B Foundation, and the host of Celebrating Rare: The GRIN2B Podcast. In this episode, I welcome in a new decade by recapping and putting a bow on 2019. What a year it was for our Foundation! We attended events, raised a lot of money and, perhaps most importantly, we completed our first research grant cycle! This past fall, we awarded $56,457 to Dr. Caitlin Hudac, an Assistant Professor at the University of Alabama. Dr. Hudac joins the podcast to tell us all about her exciting research regarding GRIN2B-Related Neurodevelopmental Disorder! During 2020, Dr. Hudac will be studying 25 GRIN2B patients and their EEGs in order to determine specific biomarkers related to the GRIN2B gene. Not sure what that means? Neither was I! Check out the podcast to hear Caitlin break it all down for us. GRIN2B Foundation is very excited about this work and the opportunities it will provide for furthering research into GRIN2B. 

Dr. Caitlin Hudac, GRIN2B Foundation’s 1st Grant Recipient

Read more about Dr. Hudac’s study here and learn how you can enroll.

I hope you enjoy this episode and be on the lookout for future episodes this year featuring additional parents, researchers and doctors. As always, 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.

Dear Santa, from a GRIN2B Mom

By Liz Marfia-Ash, President and Founder of GRIN2B Foundation

The holidays are hard. I can look around my house and feel joy from seeing our pretty decorations, but I’m left feeling mostly overwhelmed by all the hustle, bustle and pressure of the season, and this is the time of year where I become VERY acutely aware of how different our family is. I won’t pretend that the holidays are only hard on those of us raising children with disabilities. The holidays can trigger intense emotions in people for a large number of reasons.

Despite that, I know many families raising children with GRIN2B or other rare diagnoses feel blue at Christmas. We can’t always participate in the same activities as anyone else or we can only do so with LOTS of careful, advance planning and accommodations. Or, we struggle to come up with ideas for gifts for our child. Perusing the toy aisles or flipping through the Target catalog is when I become painfully aware that my 6 year old is not able to play with the same toys as other 6 year olds. On a recent trip to Target, I scoured the many displays of Frozen 2 merchandise and snagged the few items that were appropriate for my daughter, Lucy. It wasn’t until I was on my way to my car that a thought occurred to me, “What if she doesn’t even like Frozen 2?” Lucy is nonverbal so she really can’t tell me if she likes it or not. We have been listening to the soundtrack ad nauseam, but it’s not always obvious which music she prefers. I seriously sat in my car for 5 minutes and had an existential crisis that I was forcing my love of Frozen 2 on her and maybe she’s the type of girl who hates princess stuff. This is the life I lead. Everything is a guessing game and it’s so hard to know what will make my girl happy. And I think that’s where the season gets me down. I want my daughter to experience the magic of the season as my other two children do AND be happy. I just want her to be happy. But it’s such a constant struggle to figure out how to make that happen.

Communication is one of our biggest hurdles. And though I am grateful we’ve come much further than we were a year ago, we still have a long way to go with her communication device.

The magic of the Christmas season, brought to you by Children’s Tylenol.

Lucy had an especially hard night recently. She was upset and I had no idea why. My husband wasn’t home which meant we had to perform a familiar scenario: her older brother stayed with her to make sure she was safe while I rushed to get her some Tylenol in case she was in pain.

Usually I just stick to our routine and try to get through the night. But this night broke me, and I was left feeling numb and helpless. I have spent the last 5 years asking the same questions over and over and over – how can I help my daughter, what else can we be doing, what does this behavior mean, what is she upset about, what medication can we try, when will we have clinical trials????

Writing a blog was not on my to do list right now. But on this night, I started to compose the following letter to Santa in my head as I attempted to keep my sanity from spinning out of control.

Dear Santa,

All I want is some medicine I can give my child other than mother-$&!@&%$ Tylenol. Sorry, not sorry for the language, Santa. But I’m tired and angry and you wouldn’t like me when I’m angry.

Tired of my child shrieking and having NO idea why. Does she have a headache? Is she tired, hungry, was someone mean to her at school? Is something neurological going on? We give her Tylenol on a fairly regular basis as a last resort when we don’t know what else to do. Someone who totally meant well (but is not the parent of a child with a rare neurological disorder) once told us we should be careful about giving her too much Tylenol. Well, my response to that is about a 100 “shrug” emojis. It is what it is. You’d give your child Tylenol on a daily basis too if it eliminated their shrieking and stopped you from putting your fist through a wall in frustration. On recent call with one of our GRIN2B Clinicians, I asked her what else we could be doing for Lucy when she’s upset and we don’t know why. She suggested we try Tylenol and see if that helps ease her pain, or what we assume to be pain. Oh, right? Give her Tylenol often? Yep, already doing that. Our home is filled with chaos on a regular basis and I don’t really like to complain about it, but everyone’s perfect holiday social media posts are making me feel less than jolly right now. Like, where’s my Hallmark-channel-movie-magical-ending-that-fixes-all-my-problems?

You still reading, Santa? Too intense for you? Stick around…I got more to say.

Please send us any or all of the following:

-More people willing to help fund research on GRIN2B-Related Neurodevelopmental Disorder.

-More time in my day to help properly run the nonprofit I started, GRIN2B Foundation.

-Researchers to find medications that will treat my daughter’s symptoms.

-Patience by the boatload. (I’m running out.)

-More smiles for my daughter. (Pretty please.)

Xoxo,

Liz, a GRIN2B Mom

Unfortunately, this isn’t a Hallmark movie and my problems aren’t going to be magically solved by Christmas. Despite my somber, frustrated and snarky tone, there truly is reason for hope. Thankfully, I’m not alone. We’ve got oodles of Researchers, Clinicians, families and other nonprofit groups already hard at work on the items on my wish list. As frustrating as it is that science, medicine and funding cannot move quickly enough to help my daughter in the short term, in my heart I know I am doing all I can feasibly do for the cause. But, every now and then, these rough days come around and the voice in the back of my head tells me I should be doing more. 

But I literally can’t do any more, so this is where I ask you all to roll up your sleeves and help share the load.

Wondering what can you do to help?

If you’re considering any year-end giving, please put GRIN2B Foundation on your list so we can continue our mission of supporting families, promoting awareness and funding much-needed research. 

Donate here.  

If you are a GRIN2B family, please participate in as many registries and research studies as you can. We have a long way to go to get to treatments and cures and we need all the patient data we can get. 

Registries to participate in:

  1. GRIN2B Foundation contact registry: This is the most efficient way for you to ensure you’re receiving updates on all the registries, studies, future clinical trials, meet-ups, conferences and more! If we don’t know about your family, it’s hard for us to truly help you. This one should only take 5-10 minutes to complete.
  2. Both University of Colorado’s Registry on GRIN Variants AND…
  3. The Simons Searchlight GRIN2B database

What’s that you say? I have to enroll in two different patient registries? Grumble, grumble.

Okay, I know, I get it. I wish I didn’t have to ask you to enroll in both of these, but I’m asking anyway. Yes, in a perfect world, we would only ask you to enroll in one registry and we may get to that point someday. But for now, we work with what we’ve got. Both of these studies collect information that is a little bit different from each other, but it’s all a necessary part of the big picture. And these two organizations are currently working on a data sharing agreement that will allow them to share data between each other and get a full picture of the associated symptoms of GRIN2B and the other GRIN-related disorders.

In-person studies:

Dr. Caitlin Hudac’s EEG study (2019 GF Grant Awardee)

This study will be enrolling 25 patients with a GRIN2B diagnosis. Enrollment information will be available very soon.

Board Member, Phil Ash, recently recorded a podcast with Dr. Hudac, discussing this upcoming study. We’ll be sharing that in the coming weeks.

 

 

 

 

Various other things you can do:

  • Follow all our social media pages and share our posts to increase awareness. We’re on Facebook, Instagram and Twitter. 
  • Sign up for our Newsletter.
  • Host a fundraiser for us in 2020.
  • If you’re local to Chicago, consider signing up to be a Volunteer for our Family Weekend July 10-12th. Email us at info@grin2b.com.
  • Shop our Awareness apparel and merchandise.

Thank you all for supporting us! Have a wonderful Holiday Season!

Xoxo,

Liz Marfia-Ash, GRIN2B Foundation President

P.S. (Written several days later, when I’ve had time to reflect.) As is typical in our household, after a couple of rough nights, Lucy had a few nights in a row where she was spectacularly happy. This past Saturday, was pretty blissfully normal. Took the kids to the dentist (no cavities!), Lucy had a great time at Aqua Therapy, my husband and I went Christmas shopping while the kids had a great time with one of their favorite babysitters, and we closed out the night having fun taking pictures in front of the Christmas tree with my new selfie stick. And so the circle continues…low lows followed by high highs and round and round we go. Thank goodness I can rely on Christmas candy and cookies to get me through the season.  

And as I was in the middle of writing this post script, several other sad things not related to my daughter happened. While pondering all these ups and downs, I was struck by the following lyric in the song, Beautiful. I’ve listened to this song a million times and somehow never really paid attention to this specific part of the song. 

“I have often asked myself the reason for sadness

In a world where tears are just a lullaby

If there’s any answer, maybe love can end the madness

Maybe not, oh, but we can only try”

-Beautiful by Carole King

 

GRIN2B Foundation Awards $56K in Inaugural Rare Genetic Research Grant

GRIN2B Foundation is pleased to announce an award of $56,457 to one post-doctoral research effort in its 2019 inaugural research grant initiative to promote scientific understanding of the ultra-rare genetic condition known as GRIN2B-Related Neurodevelopmental Disorder.

The grant is designed to support research in the 2019 funding cycle on changes to the GRIN2B gene, which have been linked to Intellectual Disability and symptoms of Autism in hundreds of children.

The recipient of GRIN2B Foundation’s 2019 research grant is Dr. Caitlin M. Hudac, an Assistant Professor at the University of Alabama for her research project entitled, “Linking Brain and Behavior: A GRIN2B Biomarker.”

Dr. Hudac will link a promising electroencephalography (EEG) based candidate biological indicator (“biomarker”) to clinical behaviors of children with disruptive GRIN2B mutations. EEG biomarkers will aid in the interpretation of GRIN2B function, by capturing real-time pictures of the neural process by which children with GRIN2B mutations think. This candidate biomarker can potentially be used as a clinical outcome assessment. This project will teach us about how brain markers of attention relate to the clinical behaviors observed in children with disruptive GRIN2B mutations. Testing a brain-based biomarker will prepare researchers for clinical trials and other treatment-focused research. To conduct her research, Dr. Hudac will perform EEGs on various research subjects with GRIN2B-Related Neurodevelopmental disorder.

The original scope of this project was to study 10 research subjects. After a rigorous review process, it was determined the project would be more successful with a larger cohort of 25 patients. The team at GRIN2B Foundation worked with Dr. Hudac to modify the proposal for a larger scope and agreed to increase funding from the original grant amount of $40,000 to $56,457.

Dr. Hudac works at the University of Alabama in the Center for Youth Development and Intervention (CYDI) and the Department of Psychology. Her program of research examines how the brain develops from birth through adulthood with a focus on potential areas of divergence associated with neurodevelopmental disorders (e.g., autism spectrum disorder, ASD; intellectual disability, ID). 

Read more about Caitlin and her research study here.

Samuel Kwon, GRIN2B Foundation’s Science Director, was instrumental in guiding the GRIN2B Foundation Board of Directors through this inaugural grant cycle.

Kwon says, “Although GRIN2B-Related Neurodevelopmental Disorder is caused by variations in a single gene, multiple brain areas are affected because the product of GRIN2B gene is important for communication between brain cells in several different areas. Developing effective therapeutic interventions has been challenging due to the lack of a reliable indicator that captures an overall state of the brain during a specific behavior. Caitlin Hudac will combine EEG and a sensory processing task in human GRIN2B patients to develop a novel biomarker based on brain activity. Such development will enable a robust clinical outcome assessment and provide a link between behavioral deficits and brain activity in human patients.” 

In the near future, Dr. Hudac and GRIN2B Foundation will begin seeking out families who may wish to participate in this study. Potential subjects must be willing to travel to Alabama for the study. Travel stipends will be available. Additionally, GRIN2B Foundation will ask Dr. Hudac to travel to Chicago next Summer for the recently-announced Family Weekend, where she can work with additional research subjects.

If they haven’t already done so, families should register with GRIN2B Foundation’s Contact Registry to ensure they receive all updates on this important study.

GRIN2B Foundation has seen the affected patient community grow from a mere handful to over 300 in the last few years. “This is a very exciting and important time of growth for both our organization and our extended GRIN disorder patient community,” said Liz Marfia-Ash, President of GRIN2B Foundation. “We believe our research grants, combined with our close collaboration between researchers, our patient community and our growing family of GRIN gene disorder patient groups & organizations will be critical to finding treatments and cures.”

This Grant program is only possible thanks to the efforts, integrity and guidance of the following groups, organizations and individuals:

GF Board of Directors 

GF Medical Advisory Board & Science Director 

Dr. Katherine Roche, NIH

Kristin Goltry, NIH

The International Foundation for CDKL5 Research

The FamilieSCN2A Foundation

SETBP1 Society

“We have worked aggressively to raise awareness and fundraise, and our success is directly attributed to an engaged community of GRIN2B parents, families and friends who have rallied around us. We hope this research study is the first of many we can help foster through our funding program.” – Liz Marfia-Ash

 

When Vacations and GRIN2B Research Collide

By Guest Blogger, Phil Ash, GRIN2B Foundation Board Member

Vacation. Hotels. Kids. Time away. These phrases evoke feelings of fun, activities, and relaxation for parents and families desperate for a break from the rat race. It’s harder for me to feel the same way. Vacations for my family are the ultimate wild card. I never know how our three kids, ages 2, 6 and 9 are going to react to a change in the routine. My wife and I have experienced getaways that swing wildly from fun to chaos, and back. Some have gone okay, others have been cut short. Not knowing how vacations are going to go or if our non-verbal daughter is going to enjoy herself are big stressors for me.

Our recent family getaway at the end of June was different. We took a 4 hour road trip from Chicago to the University of Michigan, Ann Arbor to visit the lab of Samuel Kwon, one of many GRIN2B researchers. Sam is an Assistant Professor and, according to his website, “studies mechanisms underlying neuronal dynamics and plasticity.” Don’t worry, we didn’t really know what that meant either. 

We had met Sam and his wife at the GRIN2B Foundation Family Conference last year and had kept in touch ever since. My wife, Liz, our Board President, came up with the idea to combine a family vacation with a visit to the University of Michigan, and Sam graciously agreed to give our family and the Crider’s (another GRIN2B Family) a tour of his lab. For us, this was more than just an overnight trip. We were going on a journey to see first-hand, important research regarding GRIN2B-Related Neurodevelopmental Disorder. What’s more, we would be going with a built-in support system in the Crider family: Brittaney, Mike and their two kids. 

During most vacations, our family is always the outlier. When things go wrong or when breakdowns occur, it can feel like we’re alone on an island. But having another GRIN2B partner family and a group of passionate researchers excited to see us calmed my anxiety and helped create a great getaway for everyone in our family. Like dorks, every member of our two families wore our GRIN2B t-shirts. Everywhere we went, people asked us questions about our “bee” shirts.

Our two families arrived at the University of Michigan and were met by Sam’s undergraduate research assistant (also named Sam!) who took us to the lab. Sam and his assistant gave us a brief presentation regarding their work and then took us on a tour of their impressive, extensive laboratory. 

If I’m being honest, the minutiae of what Sam is doing was well over my head, and for good reasons. The research presentation was given in a small conference room with 5 children all under the age of 9; including our 2-year-old son who spent his time running around doing 2-year old things! In spite of the distractions, I was humbled by their passion and excitement to see us. Their PowerPoint presentation included citations from our website, www.grin2b.com. This may not seem like a big deal, but as an educator who recently finished his Masters Degree, it was so satisfying to see a group of brilliant researchers citing a website I helped create. The lab was extensive and it was a bit strange actually seeing the research mice. (Don’t worry – we’ll share more specifics about Sam’s lab towards the end. Keep reading!)

Sam and his family could not have been more gracious and patient with us. They were excited to speak with us and spend time with our families. Following the tour, they took us to lunch. After we bid them goodbye, the balance of the day was our own. Our family and the Criders went to a children’s indoor playground, had pizza in the hotel and then spent some time with the kids by the pool. Normal family stuff, but for me, this time it was free from the usual anxieties. Our kids behaved wonderfully, but having another family with us that also experiences the highs and lows that come with a GRIN2B diagnosis made all the difference. 

Hopefully, this was just the first of many research road trips we will take!

If you were thinking you’ve heard of Sam Kwon before, it’s probably because he recently became GRIN2B Foundation’s Science Director! We were so impressed with his passion and expertise at our visit and knew we’d finally found the missing piece of our organization. Our Board was thrilled to offer him the position earlier this month, and he is already more than proving this worth by organizing our first grant cycle. Read Sam’s bio here http://grin2b.com/medical-advisory-board/

Between the science being over our heads and having to wrangle 5 children, ages 2-9, none of us adults were really able to take notes during this visit. We thought it was best for Sam to explain his work himself so here are his answers to our follow-up questions:

Samuel Kwon, PhD

How long have you worked for the University of Michigan? Tell us a little bit about your lab.

I have been working at the University of Michigan since January 2018. That is when I started my own lab after several years of postdoctoral research at Johns Hopkins. The research in my lab focuses on how nerve cells in the brain process sensory information and how this process is altered in humans carrying mutations in autism-related genes. My lab is especially interested in how brain cells change over time as a new knowledge or skill is learned. This is called ‘neural plasticity’. We leverage the fact that mammalian brains are similar across species and use mice as a model organism to study neural plasticity in the cerebral cortex of health and disease. We can train mice to perform simple behavioral tasks while monitoring and manipulating individual brain cells using state-of-art microscopic tools. 

How did you become interested in studying GRIN2B?

In April 2018, I had the privilege to attend the scientific meeting organized by Simons Foundation, which provides a major support for my current research. The meeting was heavy on genetics of different neurodevelopmental disorders. Although I am not a geneticist, it was obvious to me that a set of genes required for proper signaling between nerve cells were strongly linked to various neurodevelopmental conditions. Grin2B was consistently one of them, but I didn’t look into it any further. Two months later, my wife and I found out that her 3.5-year-old nephew in South Korea had been diagnosed as having a Grin2B neurodevelopmental disorder. It took three years to find out since the time where his parents first started noticing severe developmental delays such as motor deficits and intellectual disability, because a Grin2B mutation is extremely rare in South Korea or anywhere in the world. To connect with other GRIN2B families, I attended the first GRIN2B Foundation Family Conference in September 2018. It was an invaluable experience for us at both personal and scientific levels. By talking and listening to other families, I learned a lot about the challenges that GRIN2B parents face daily as well as practical tips that could improve the quality of life of both parents and their children. The conference included research presentations by world-renowned neuroscientists. Inspired by these presentations, I decided to launch a research project in my own lab to investigate how Grin2B mutations impact neural circuits in the brain.

Tell us (in layman’s terms) about your work on GRIN2B.

A common hallmark of children with GRIN2B neurodevelopmental disorders is a motor dysfunction. We aim to understand how variations in GRIN2B impact the neural circuit for motor function using mouse models of GRIN2B variants. Specifically I will focus my effort on determining the time points when therapeutic interventions for motor dysfunction need to be focused. From there, I will expand our research directions toward a better understanding of how Grin2B mutants contribute to specific pathological hallmarks including sensory and cognitive impairments. We hope that this research would accelerate the availability of treatments for Grin2B-related syndrome. 

What do you hope to learn from your mouse models?

We have been using a mouse model in which the level of GRIN2B can be reduced in specific brain cell types. This is called a ‘conditional knock-out’ mouse. I obtained this model from Professor John Gray at UC-Davis. One of the experiments being performed in my lab is to reduce GRIN2B in different areas of cerebral cortex and test its impact on motor function. In parallel, we are creating a ‘conditional rescue’ mouse in which GRIN2B can be switched on in specific brain cell types by the experimenter, at any point in time throughout development. With these resources, we would be able to experimentally modulate GRIN2B in specific brain areas at different time points and monitor its effects on behavior and brain function in living mice. These efforts will enable us to determine if there is a ‘critical period’ in which a normal level of GRIN2B is essential and will provide an important scientific framework for therapeutic approaches.

 

Celebrating Rare: The GRIN2B Podcast, Episode 3, Part 2

By Guest Blogger, Phil Ash, GRIN2B Foundation Board Member

Hello again! This is Phil Ash, teacher, father, Board Member of GRIN2B Foundation, and host of Celebrating Rare: The GRIN2B Podcast. Here is the second part of our 2-part episode of Celebrating Rare, featuring GRIN2B parents Brittaney and Mike Crider. The first part discussed Brittaney and Mike’s seven year old daughter Natalie, her personality and the family’s journey to a GRIN2B diagnosis for her. Now, in the second part of the episode, Brittaney and Mike discuss how they both discovered and created their new “normal” for Natalie, her younger brother Mikie and themselves. It was a wonderful discussion with two amazing people, and I hope you find it interesting and motivating.

The Crider Family

 

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. My goal is to continue having parents as guests on the program as well as medical researchers. If you’d like to be a guest or have suggestions for future guests, reach out!

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.

What’s Self-Care Got To Do With It?

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

Prepare yourself for a deep dive into the varying ways some of us in the GRIN2B community are taking care of ourselves (or not really taking care of ourselves).

When the members of the GRIN2B Foundation Board met to plan our 2nd GRIN2B Awareness month, we brainstormed additional topics to cover other than just sharing GRIN2B facts and pictures of the kids. We noticed there had been some recent talk in our community about both self-care and our biggest fears as our kids get older. Not exactly sure where these questions would lead, we created a survey for the GRIN2B parent community. 70+ people answered our question about self-care.

Not shockingly, we’re not doing all that much when it comes to taking time out for our mental health.

We had a multiple choice question with 11 options for self-care. Parents were able to check off however many applied to them. Here are those results: 

  1. Support group, online (39%)
  2. Exercise (39%)
  3. Friends who can relate (30%)
  4. Hobby (27.5%)
  5. Respite care (26%)
  6. Therapist (20%)
  7. Massage (16%)
  8. Support group, in person (8.7%)
  9. Read self-help books (5.8%)
  10. Mediation (5.8%)
  11. Essential Oils (5.8%)

 

Additional write-in options were: Taking walks with the dog, baking, paint/illustrate, listen to music, books/tv series, talk with family and colleagues, take cbd oil, travel, work with special needs children, golf, tennis, wine, nature, retail therapy, nail & hair appointments and a few said “nothing.”

After looking at these results, I thought it would be great to hear more in depth from families. What were they doing specifically and why did they choose that? What is self-care anyway? We asked on social media for a few brave individuals to share their stories with us. To be honest, I wasn’t sure anyone would respond. I received a submission right away from an amazing Mom named Zoe. Her story (which will appear towards the end along with a few other stories) was all about the wonderful advocacy work she is doing at her daughter’s school, in her community and in organizing the European GRIN2B conference.

I excitedly shared her story with my husband, and he looked at me like I was crazy.

“Everything she’s doing is amazing, but that doesn’t sound like self-care. That all sounds stressful.”

“It is self-care,” I insisted.

I explained that being an amazing advocate is her form of self-care. I certainly can relate to that. My husband reluctantly agreed, but still seemed unconvinced. I thought about this conversation all day and here are the conclusions I finally came to.

Self-care is different for everyone. It’s very personal.

And the biggie…

Self-care is work!

It’s not as simple as just setting aside time to relax and do something fun (though it totally can be if that’s what you need).

But in large part, self care is a choice. And. It. Is. Work. It is work to carve out any time in our intense schedule of dealing with the complexities of caring for a child with a very rare disorder. It is work to ask for help. It is work to find a therapist or a support group or respite care.

For many of us raising kids with complex needs, we can’t necessarily just hire the average teenage babysitter. We need qualified, trusted caregivers. As my daughter gets older, this gets trickier and trickier for us. We have trusted family members who can babysit, but we’ve been saying for ages we need to take the time to properly interview people who are skilled at caring for kids with disabilities. My problem is less that I can’t afford qualified childcare (though I’m not exactly rolling in piles of dough here) and more that I do not have the time to interview people. (Shameless cry for help – if you know someone or are someone qualified to care for my daughter (and her two crazy brothers), message me, please!) We live in Illinois where respite care options are slim to none. If you are lucky to live in a state or a country that provides respite care, I highly suggest you take advantage of it. Of course, this is assuming the respite care program is well-run and well-funded and the workers are people you can trust. Unfortunately, we know all too well that just because a program exists, doesn’t necessarily mean you can trust it.

I am especially aware that however hard it is for myself and my husband with our limited childcare choices, at least we have each other to rely on. We often take turns watching the kids so the other one can leave and take a break. I know there are single parents out there that this is doubly hard on. I wish I could say I have the perfect solution for all. Unfortunately, no one is going to magically fix this problem for us. Whatever our circumstances are, we have to think outside the box and find ways to take care of ourselves. Be brave, ask everyone you know and everyone you don’t know for help and suggestions. And, if you don’t get answers, wait a while, ask everyone again or keep looking for new people to ask. Just don’t give up.

But back to my original revelation – self care is work and that’s why most of us aren’t doing it! We’re just too dang exhausted to take the time to make a plan for this.

For my crazy workaholic life, I can’t easily just set aside time each week to take a bubble bath and read a book or get a massage. For me, it’s a LOT of little things I started doing over the last few years that have a cumulative effect of keeping me relatively functional.

Here’s what is working for me:

  • Since 2015, my husband and I have been attending a monthly Parent Support Group. From the moment we found out my daughter was not meeting milestones and we started making the rounds with multiple specialists, I started searching for a support group we could join. As we were undiagnosed at the time, there wasn’t anything I could easily find. I spent the better part of a year hounding every doctor or therapist, googling support groups, emailing people to find a group only to come up with nothing. Finally, one day, my husband and I ran into a therapist who had evaluated our daughter early on, and she recommended a group to us. We started going and haven’t stopped! We’ve made wonderful friends with other families in this group. It’s been truly life-changing.
  • I have a diverse group of local girlfriends who are all parents of children with different types of disabilities. They get it, they really get it. We all support each other and enjoy girl’s nights out. We also take turns hosting playgroups. It’s such a relief to go to a group playdate with people who totally get what it’s like raising a kid with a disability.
  • I see a therapist 1-2 times a month. Ideally, I’d go once a week, but the therapist I ended up picking has very limited availability and, truthfully, I do too. So, best case, I go two  times a month, but mostly due to my crazy schedule, it’s once a month. Could I get a new therapist who’s more available? Sure, but this is actually my 2nd therapist and I like her and she gets me and I kind of don’t really want to start over. My story is long and tiring to tell. The 1st therapist I went to was not a good fit so I quit going and then it took over a year to get back started up with a new one because, well…life.
  • I try to go to Pilates once a week. This is truly the only form of exercise I enjoy.
  • I have become a bit obsessed with inspirational quotes – especially ones from Brene Brown, J.K. Rowling, Maya Angelou and Ralph Waldo Emerson. I have bulletin boards at work and at home with quotes on them, and I stop and read some of them almost every day. I also love inspiring quotes on my shirts, especially the ones from The Gwendolyn Strong Foundation, Everykind and our Awareness shirts as well! One quote I fall back on a lot is from the movie (and book) The Shawshank Redemption – “Get busy living or get busy dying.” It’s a little trite, I know, but thinking of this quote is really the kick in the pants I need some days. Do I want to sit around and feel sorry for myself and just give up, or do I actually want to just move forward? Onward and upward! 

  • We signed up last Fall for a grocery delivery service – this has been a GAME CHANGER for us! We use Shipt for Target, but there are so many options out there. As a working mom, this is such a time saver!
  • I listen to music constantly. My daughter loves music, but is nonverbal and can’t really tell me what she likes. But we can tell by her demeanor if she likes a type of music. So, I act as her personal DJ often, trying different types of music out to see how she’ll react. Music is our go-to when we don’t know what’s wrong – we’ll turn on some uplifting music and have a dance party. We’ve had a lot of dance parties to “This is Me” from The Greatest Showman.
  • Writing is a really wonderful outlet for me. I’ve always loved writing and it’s been amazing to contribute so much to the Foundation. I don’t go anywhere without a notebook to jot down random thoughts, ideas, future blog posts, etc. Next up, I need to find time for more of my personal writing projects.
  • I love reading, but honestly don’t get to do it too much for pleasure these days. Most of my spare moments during the day are spent reading articles or blog posts related to disability, rare disease, nonprofits, AAC, genetics, etc. I might read a few minutes before I go to bed. I have a stack of articles to read and self help books on my nightstand, but usually need something light to read before I fall asleep. I usually just end up re-reading a Harry Potter book for the millionth time. Taking book recommendations!
    • Reading sub-topic: I was lucky that pretty early on in this journey, I stumbled across some amazing bloggers that helped form my views on disability and parenting a rare child. Some of these blogs were written by mothers of kids with all different types of disabilities and through reading their blogs, it led me to some pretty life-altering blogs written by people with actual disabilities. Hearing from the disability community itself is something I highly recommend! These perspectives taught me about important concepts that I had never heard of, such as ableism and presuming competence.
  • This one’s still a work in progress, but I’m working on limiting my social media time. Between Facebook, Instagram, Twitter and numerous email accounts, I often feel glued to my phone or computer. Social media is amazing for many reasons, but sometimes the constant barrage of information and connections overwhelm me and I need to take a step back so I can be more present in my life. I now limit some of the notifications I receive on my phone.
  • As Mary J. Blige sings, “No more drama!” It’s not always possible, but I try to be really conscious of allowing people with negative energies access to my life. Sorry, not sorry. I have a low tolerance for drama, even if it’s tangential. I limit my access to drama as much as I can and seek out people with positive attitudes.
  • My most critical mind-shift has been to try very hard to limit my pity parties to no more than one day. If my thoughts are spiraling, I might wallow in it for a day, but then I move on the next day. I realized pretty early on that focusing on the perceived negative aspects of my stressful life do not serve my daughter, the rest of my family or me at all. I make a conscious effort to choose joy. The only way I have been able to achieve this is to surround myself with positive messages (the aforementioned quotes, music, books and positive people).

The list above notwithstanding, keep in mind there are many, many things I am not doing, such as getting enough sleep, eating well, figuring out how to alleviate the chronic back pain from carrying my daughter around so much that has been slowly getting worse over the last year, keeping up with personal doctor’s appointments (see previous back pain comment), cutting myself some slack, going on date nights with my husband (this is mainly due to not having enough babysitters), going on vacations (what are those?) etc. Sigh, self-care is a process. And I’m exhausted from taking an honest look at all the things I do to take care of myself. It wasn’t until I asked this question and did some self-reflection that I realized the extreme effort I was putting in.

As I mentioned in the beginning, self-care is different for everyone.

We asked families in our #GRIN2B community to tell us what they were doing to take care of themselves and received submissions from two Moms, one brother and one Dad.

Thank you to Zoe, Tanja, Campbell and Phil for bravely sharing your stories with us.

By Zoe Costello, GRIN2B Mom, England

As a mother of a child with complex needs, the world you find yourself in is not the one you expected. Friends disappoint and disappear and you find yourself struggling with some of the hardest choices in life, pretty much on your own or maybe with a partner also struggling with the same thing. I am a fairly strong minded person, but I’d also done work experience with disabled children in a previous life and knew I did not have that vocation and thought I’d never cope.

How I’ve survived (and I’d like to think thrived!) is by being involved in my daughter’s community. I’m a volunteer governor at her school, so have strong links with the senior management team and I attend and now run a parent support group from the school so have strong links with the parent liaison officer and other parents. I also meet up with other special needs parents from my home town on a regular basis and I’ve now started to get involved with our local authority to become a parent advocate for our children. To top that off I’ve been fairly heavily involved with the GRIN2B community, helping to organise a European conference and keep connections between different people and organisations. All of this, whilst helping to keep me busy also gives me the knowledge I need to best support my daughter and has given me a group of different support networks, in my hometown, in school, and worldwide online. There is now always someone there on the end of the phone or messenger or Facebook to help and advise. I’ve learnt so much and more importantly am no longer alone, far from it!

By Tanja Vinther-Bjerg, GRIN2B mom, Denmark

I have become a triathlete. I have always been running and seen it as therapy where my thoughts could just fly away. Just mile by mile (kilometre by kilometre in Denmark).
In Denmark, we are fortunate to have a system that in our case offers help – so Noah is attending special school and every other weekend and 2 weeks a year he is in an institution where he loves to be and we can be a family without always having to deal with his needs. This and the fact that we schedule everything in a common calendar gives me the time to train alongside with my 40 hours a week job. And I love it and got my husband and Noah’s little brother onboard also. My big goal is Copenhagen Ironman in August. And I feel great, we embraced the help we can get and the fact that Noah loves his institution gives us peace of mind to follow our dreams and do the things we love.

I started last year and fulfilled a Half Ironman in 5 hours and 18 minutes + a lot of 1/4 distances. And I am hooked, on the training, the races and the fellowship in the tri-club we joined as a family. I do runs with my youngest and train in the mornings and evenings. It is a coordination,  but so worth it even though we often see each other in the doorway. I know we get breathers without Noah and we would absolutely die without this. I get more energy by using energy.
Who knows? The dream is to qualify for Kona one day. Believe in your dreams and sometimes they actually happen.

 

By Campbell, age 13, GRIN2B sibling, United States

I am a brother to someone who is affected by GRIN2B mutation. Life with someone affected by this disorder can be stressful, so you must have something that you do regularly to take care of yourself. Many people, for example, meditate, read, and watch stuff, among other things. Personally, I work out and play sports for my high school, joke around with my friends, play video games, you know, typical teen stuff. Many people do not realize the importance of even the daily, menial things in their lives, as those can make an enormous difference. Stress is hazardous to your health, and you should attempt to alleviate it, as it slowly accumulates and affects both your mental and physical health. People affected by a GRIN2B mutation should be cherished and loved, and given your utmost care, no matter how stressful and hectic life may seem.

By Phil Ash, GRIN2B parent, United States, Illinois

I know I do not do enough for myself or focus enough on my self care. I’m sure I’m not alone in this. My busy life and schedule does not really allow for much “me” time, so I try to find little moments throughout my day. I’m blessed with a job that I love and that gives me a lot of fulfillment. I teach high school students radio, television, and film. The job is stressful, it’s long hours and it’s hard work, but I love it. The moments of “me” time occur when I get to be creative and produce a video content for the school. The creative process, from writing, filming, editing and the satisfaction of sharing it to the school community is very fulfilling. In terms of more traditional relaxation, I enjoy listening to sports talk radio and podcasts whenever I can. I’m a fan of the Chicago Cubs and the Chicago Bears. During football season, I watch every Bears game and block out those 3+ hours. In the summer, I’m an avid golfer and I try to go at least once per week during the summer. Usually, I go during twilight hours, after I’ve helped feed the kids dinner. I also enjoy playing guitar and I’ll pick it up for 5-10 minutes, whenever the mood strikes. All in all, I think we all want more self care time, and I know I can use more. Since I became Lucy’s father, I’ve made more of an effort to make the above things a priority. Most of them require little self-sacrifice or sacrifice from my spouse. I think self care for special needs parents is possible if we all undergo a bit of a mind shift. I’m trying to stop thinking “oh, this might be nice if I was able to do this,” to “I need to make this happen for myself so I can be at my best for my family.”

For those reading that are the parent of a child with a GRIN2B variation (or maybe parent to a different kind of rare child), I hope you have come to realize one of the following…

  1. You are actually doing quite a bit to take care of yourself.
  2. You need to do much more and you’ve got some ideas now.
  3. You need to do more, you’re still not sure what to do, but you’re determined to figure it out.

And if you feel inspired and want to share your stories with us, let us know. We’d love to continue to feature brave stories of self-care from our community members.

Now, indulge me for a few more minutes and read this one last part. If you know me, you know I’ve always got more to say.

Talking about and acknowledging our lack of self-care is really important, but we have to keep it balanced. Yes, there can be tremendous stress placed on parents, caregivers and siblings of those with disabilities, and all our feelings absolutely need to be validated. But the truth is…it is so much harder for the people living with disability.

Us able-bodied adults and children have the luxury of being able to communicate our feelings and have empathy reciprocated back at us. We can ask for help easily. For kids and adults with limited ability to communicate, they may have no way to properly or easily process those feelings. And from having two neurotypical children, I can tell you that all children need A LOT of help processing and properly navigating their feelings.

All I’m saying is we have to be careful we don’t share too much of our hardships that it comes at the expense of our children’s dignity. It’s a fine line. I don’t pretend to be an expert on not crossing this line. I just try to be aware of it constantly.

 

Want to read about more self-care strategies? Check out the following links.

The Most Courageous Self-care Act: Learning to Say I Need Help by Shelly Tygielski

The Isolation I Feel as I Parent Kids With Disabilities, by Laurie McLean, featured on The Mighty

10 Ways to Set Yourself Up for Success, featured on Everykind blog

And check out this free resource to help you gather info about your child for respite care providers:

https://www.childneurologyfoundation.org/programs/respite-care/

 

Celebrating Rare: The GRIN2B Podcast, Episode 3, Part 1

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.

Celebrating Rare: The GRIN2B Podcast, Episode 2

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.

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.