Disability + Differences Spotlight || Lucy

My name is Liz and I am married to my college sweetheart, Phil. We live in a suburb of Chicago with our 3 kids, Zach (10), Lucy (6) and Alex (2). Lucy, was diagnosed with an ultra-rare genetic disorder when she was 18 months old, GRIN2B-Related Neurodevelopmental Disorder. The name is a mouthful to say and worse to type so we mostly just call it GRIN2B. The main symptoms are hypotonia, speech delays, gross and fine motor delays and intellectual disability. GRIN2B is also one of the genes that causes Autism. Lucy hasn’t received that diagnosis, but she has behavioral characteristics that overlap with Autism. To say this diagnosis has flipped our life upside down would be a bit of an understatement. There was little information about her disorder at the time she was diagnosed in 2014 so my husband and I connected with other GRIN2B parents through Facebook and started a non-profit to support families, promote awareness and fund research, called GRIN2B Foundation. 

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Miggy: Welcome Liz and thank you so much for being here today and sharing your story. First, can you take me back to the day you knew something wasn’t quite right with your daughter Lucy? Was this before birth, immediate after, or sometime after that? If applicable, how long did it take you to get a diagnosis? Do you remember how you felt?  Can you compare those first thoughts and feelings with how you feel now?

Liz: We had no idea anything was different when she was born. In retrospect, there were signs. She was the quietest baby, barely cried and slept a ton. She was our 2nd child and our 1st born was colicky for the first few months. Why would we question or worry about a quiet baby? At six months, she wasn’t sitting up, but the pediatrician thought it was fine. However, by then, daycare and family members were starting to question her vision.

At seven months, I read an article about Rett Syndrome. I had never heard about it and I don’t even know how I found this article or why I read it. But it changed everything. All of a sudden, a light bulb went off as I was reading the characteristics of Rett Syndrome. I came home from work and, for the first time, really noticed that she wasn’t looking at us or responding to her name. She was also clasping her hands together repeatedly which was a sign of Rett Syndrome. At this point, we KNEW something was not right and we felt terrible we hadn’t picked up on this sooner. THANK GOD we had the world’s best pediatrician who took us seriously and immediately sent us off to see a bunch of specialists and referred us to start therapy with Early Intervention. I hear such horror stories from other families about doctors that don’t listen, and I know we were so lucky. When every test kept coming back negative, I just kept pushing our doctor for more testing and that eventually led us to a genetic test called Whole Exome Sequencing. When Lucy was 18 months old, the results came back that they found a mutation on her GRIN2B gene. Back then, there was no syndrome name, just a few papers about children with GRIN2B mutations. We were told there were approximately ten others diagnosed. There was no cure and no treatments. The only silver lining was that it was not progressive, though she would never “catch up.” We were lost and numb. We had no idea how to move forward and process this information.

We’ve come such a long way since that diagnosis five years ago. There are still times we feel lost and numb, but, thankfully, those are not everyday occurrences. Finding our tribe has been a lifesaver. Not only are we connected with hundreds of GRIN2B families through the Foundation and through Facebook, but, over the years, we’ve also made friends with local families whose children have all different kinds of disabilities. We have play dates, go out for dinner, share local resources and support each other. This has made a huge difference in the quality of our lives. As for our daughter, there’s been no magic button to help us manage or alleviate her symptoms, but we’ve giving her all the therapy she needs, her school is phenomenal and we are now, thankfully, connected to many doctors and researchers studying GRIN2B.
Miggy: Can you please education us about Lucy’s needs and how they affect your day-to-day life?

Liz: We have to be hyper-aware ALL. THE. TIME. A six year old is usually a little self-sufficient and our daughter still needs a lot of one-on-one attention for both daily care and to keep her safe. We HAVE to be helicopter parents out of necessity. I do think our daughter has some safety awareness, but it’s hard for her to control it at times, and she can be quite impulsive. She’s also a wanderer. She doesn’t run yet, so it’s manageable. It’s mostly tricky when we go to someone’s house or out in public. It’s definitely made us more homebodies. It’s so much easier to have people over to our house than to go to someone else’s house. I always think of the phrase, “constant vigilance,” which is Mad-Eyed Moody’s advice in the Harry Potter series. We worry a lot too. Are we doing the right things for our daughter? Are we giving her the right kinds of medication? Are we giving her the right kinds of therapy? Having a nonverbal child means we’re constantly playing detective and asking ourselves if we’re doing right by her.

Miggy: What are the biggest worries you face for Lucy? On the flip side, what are the hopes and dreams you have for her?

Liz: The list of worries is looooong. As previously mentioned, the biggest one is her safety. Wandering off is a big one. I’ve had many nightmares about that scenario. We also worry about people taking advantage of her. On a super scary level–there’s the worry about her being a victim of sexual or physical assault. I read a statistic once that 80% of those with an intellectual disability will be a victim of assault. On a less nausea-inducing level, I worry about friends. Will she have friends? Will they be friends with her out of pity or because they genuinely want to know her? Then there’s the worry about who will take care of her when she’s older and we pass? In the day-to-day, I mostly worry about what she’s thinking about. We are desperate to hear her voice. Not necessarily her literal voice, but rather the voice of her AAC device

That leads us to our biggest hope for her – that she’ll learn how to properly navigate her device independently and we can find out what she wants/needs/likes/hates, etc. We hate that when it’s her birthday or Christmas, we can’t just ask her what she wants. It’s desperately sad to not know what your kid likes. She’s had her communication device for less than a year and is working hard at learning to navigate it.

Miggy: How can people best approach or respond to Lucy? Is there something you wish other people knew so as to avoid awkward or hurtful situations?

Liz: I would love for people to not assume that she doesn’t understand or isn’t listening. Being nonverbal doesn’t necessarily mean you can’t understand. Honestly, even a simple acknowledgement of saying hi goes a long way. It’s always surprising how many times people don’t even bother saying hi to her. I don’t mind people asking us questions about her directly, but we try to never talk about her when she’s in the room. A lot of times if someone asks us a question while she’s there, we tell her, “Hey, I hope it’s okay, but we are going to talk about you right now.” If she starts to show any visible signs of distress, we just cut the conversation off. A helpful tip: since I can’t always answer in-person questions, I try to occasionally write about our experiences on my social media pages or I’ve blogged for The Mighty before. Often times, the answers people are looking for are on my social media pages.

Miggy: Tell us something you love about your daughter– special story, a personality trait or just something others might not know.

Liz: Please don’t underestimate her. She’s not a baby. This. Is. The. Most. Important. Thing. On paper, she is testing at a functional and intellectual level below her actual age of six. But that does not mean she’s a six year old with the mental age of a one or two year old. She’s just a six year old who functions at varying levels and we have literally no idea what types of thoughts run through her head. Thank god her school and her therapists get it. They have to do the standard testing just to have it in her records and to justify why she needs services, but they work with her every day on age-appropriate curriculum. They are great at presuming competence with her. This mindset took us a while to fully understand. Even though she may act like a much younger child, we can’t treat her that way or talk to her that way. Don’t get me wrong, for safety purposes, we still have to somewhat treat her like a wandering two year old. But, otherwise, we have come to realize she definitely likes age-appropriate books and she has the coolest taste in music – she’s been into everything from Hamilton and The Greatest Showman to Michael Jackson, The Guardians of the Galaxy soundtracks and Lauren Daigle. It’s hard to figure out what music she responds best to, so I do a lot of sampling of different genres on Spotify.
Miggy: What is the biggest lesson you’ve learned since becoming Lucy’s mom?

Liz: I think I’ve learned more in the last 6 years than in my previous 34. Becoming a mom to a child with a disability is truly like entering into a whole new world. The biggest lesson I’ve learned is that nothing is black and white. There are so many different thoughts and perspectives to consider. Doctors think one way, teachers think one way, parents think one way. All of these voices are important and have helped me, but at the end of the day, following the voices of those who ACTUALLY have disabilities has been the biggest game-changer for me. Language changes so much. Learning about the differences between using identity-first language and person-first language, understanding ableism and reading their perspectives on parents oversharing information about their child without their consent has truly shaped who I am. My daughter is not currently in a position where she can consent to what I share about her so everything I write goes through a filter of, “Would I share this about myself, what purpose is this serving, is this potentially harmful or unsafe information to put into the public domain?” I’m not perfect at any of this, but I am fascinated by how much there is to learn if you’re willing to take the time.

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Liz thank you so much, that was wonderful. I absolutely love what you said about not underestimating your daughter–specifically when you differentiated from testing at a level that is below her age, but that does not mean you should think of her (or treat her) like a like a toddler, but rather think of her as a 6 year old who functions at different levels. That’s an eye-opening concept for me. And I love the idea of “presuming competance.” YES YES YES. I think this also plays into what you said about people not even saying hi to her, or asking questions about her in front of her. So many assumptions are made about a person based on their ability–if they can’t talk that must mean they don’t understand you–for a lot of people that is simply not true, and for others we just don’t know. So the default in our behavior should be, presume competence. Presume that they understand you, presume that they want to be treated with dignity, presume humanity. Lastly, I 100% agree that following the voices of those who actually have disabilities has been the biggest game changer for me as the parent of a child with a disability as well. And a HUGE part of that is not-oversharing our children’s personal information. I know for me, I probably overshared in the beginning, but when you know better you do better. This was amazing Liz, thanks for being here today and sharing your sweet Lucy with us. She sounds like an awesome kid. 

If you or someone you know would like to participate in the Disability and Differences Spotlight please email me at thislittlemiggy at gmail dot com. 

Have a great weekend!
XO, 
Miggy