My name is Shelley and this is Vivian! She is 7 years old and was born with limb differences. I live in Philadelphia with Vivian, my partner Robert, and Vivian’s big sisters Chloe (16) and Maya (14). Vivian matches up genetically with an ultra rare disorder called Kantaputra Syndrome but we often find ourselves not fitting into any one diagnosis or category. Vivian has always had challenges with speech, balance, and working memory and we recently learned that she has a brain difference that is likely the cause. As Vivian has continued to unfold, we have learned that flexibility is the best way always. She has taught us to be persistent and brave!

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Miggy: Welcome Shelley! And thank you so much for being willing to talk about Vivian and the experiences you’ve had as her mother. Can you take me back to the day you found out that Vivian would be disabled? 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?

Shelley: We approached our 20 week ultrasound like most everyone does — just wanting to know the gender of our baby! We had tickets to a show later that night and were generally ready for an awesome day. The day was turned upside down when the tech told us that it our baby had bilateral clubfoot, that her lower arms and lower legs were shorter than expected and that she likely did not have fingers. I was shocked and very, very sad. We were told that it was possible that something serious, even life threatening, could be the cause. She was not a planned-for baby but was very, very wanted and loved and I was deeply worried I would lose her. In the days and weeks we waited for test results, I struggled with the fear that I wouldn’t be able to handle what would be required of me as a mom, and that she would suffer, physically and emotionally.

Though the more major genetic causes were ruled out, the doctors weren’t sure what the cause was and how severe her issues might be.Throughout my pregnancy, we never got a good look at her face or hands and so it wasn’t until Vivian was born that we knew exactly what she would look like. After delivery, we learned she had a typical (beautiful!) face, and though her hands were contracted, she had all 10 digits. The bones in her forearms were (and continue to be) about half the typical length and are bowed. Genetic testing started on her first day of life. The clubfoot was corrected with casting and braces, and she received PT and OT starting in infancy.

Balance and coordination were not what was expected but we chalked it up to the early casting. She was a late walker and talker and eventually she was diagnosed with an expressive speech delay and has been in speech therapy continually since around 2 years old. We have recently learned that she also has a brain difference, a smaller than typical cerebellum, which likely contributes to most of her motor coordination and planning challenges, including speech. It also affects some cognitive functions like working memory and Vivian uses extra support at school.Around the age of 5, a persistent doctor in the Genetics Department of CHOP matched her with an extremely rare disorder called Kantaputra sydrome. With less than 10 known cases, it has not shed much light on her condition or what her future will be.

Most of the fears about Vivian that I had in the hours and days after the ultrasound were not realized. She has always been healthy and strong. She has reassured me again and again with her strength, her humor, her persistence. That said, she is still unfolding, and most days I feel my job is just to be a witness and a mirror to show her what she already possesses.
  [readmore title= “Click here to read Shelley’s really great insights on raising a child with a disability.”]

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. 
  [readmore title= “Click here to read more about Lucy and life with GRIN2B”]

Natalie Winters is a wife and mother of three young children (Maximus, 6, Lennox, 4, and Aurelia, 2). Her daughter Aurelia (or Auri) met all developmental milestones until her first birthday when her husband and she began to notice something was off. Auri was diagnosed with Aicardi-Goutieres Syndrome (AGS) when she was fourteen months old.

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Miggy: Hi Natalie, and welcome! Thank you so much for being here today and specifically sharing about your daughter Auri. First, can you take me back to the day you knew something wasn’t quite right with your daughter? 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?

Natalie: We began noticing that something wasn’t quite right around Auri’s first birthday. Initially, her left foot starting curling inward; and she scrunched her toes when she pulled to stand. At her one year appointment, the pediatrician thought Auri might need physical therapy. But, since she had been developing normally, the doctor had no concerns. About six weeks later, it was clear that Auri needed something more. We called the pediatrician, and she referred us to Duke neurology, who said we should take Auri immediately to the ER. That was scary, and we took two days to make the decision and go. After an MRI and lumbar puncture, the doctors believed Auri had a leukodystrophy. She was diagnosed on January 24th, two and a half weeks later, when her whole exome sequencing identified a mutation in her IFIH1 gene known to cause Aicardi-Goutieres Syndrome or AGS type 7. These past ten months have been a long rollercoaster, and we’re incredibly grateful for where we are now compared to where we were then. Life brings unexpected experiences, and this one has taught us to appreciate every day and every new accomplishment that Auri and our sons achieve.
  [readmore title= “Click on through to read more about Auri and her awesome family”]

Leanora lives in London, and is a member of the Great Britain paraclimbing team. She has a diagnosis of ataxia and Ehlers-Danlos syndrome, which affects her coordination and balance, and causes joint dislocations and neurological symptoms. Although these have been present since birth, it has only been over the past few years that the symptoms began to worsen, and in her early twenties went through the process of being diagnosed with EDS, and then with ataxia. This year she competed at the world paraclimbing championships alongside other disabled athletes and won a bronze medal. One day she hopes for paraclimbing to be part of the paralympics.

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Miggy: Welcome Leanora! I’m so glad to have you here today on the newly minted Disability Spotlight. Let’s start at the beginning,  what do you remember about your early years? Overall how would you categorize your childhood (or do you)? Looking back now, do you have a different view of how those early years have shaped you?

Leanora: I mostly grew up without a diagnosis, though I’ve never been particularly “well.” It was when I was a teenager though that my parents became aware that something was wrong. I grew up with a lot of mental health problems and undiagnosed autism but I was also having pain and fatigue, and we went through this process of trying to get some answers without any success. So it’s hard to put my childhood into a category of “childhood with a disability” and “childhood without a disability.” In so many ways it was both–not having a name for my condition meant I was largely assumed to be able-bodied, and illness and disability wasn’t really centre stage in the way it might have been otherwise, but I also struggled in a lot of ways and it wasn’t always easy not having a simple answer for why that was.

In the end though I went through the process of getting diagnosed alone as an adult, right after I left university, because I’d become quite a lot sicker and I needed answers. Right as I grew into adulthood and got my independence, there was suddenly this role reversal where I would go into hospitals alone and come out with new diagnoses, which I would then explain to my parents and reassure them that I was okay. They had a lot of questions but they’ve also followed my lead in terms of how they deal with it. I wanted to protect them from having to guide me through it and in a lot of ways that’s forced me to take responsibility – I haven’t let people in to sit with me and hear what I was hearing and go through it with me, though I think in other ways I’ve also put pressure on them to be okay with it all. In part I think that comes down to my earlier experiences of illness, where I was largely working things out alone and nobody had answers for me, and that’s given me independence and resilience to cope mentally.
  [readmore title= “Click here to read the rest of Leanora’s interview. You’ll be glad you did!”]