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Rare Disease Month Reflection 2023

Jennifer Sills • Feb 06, 2023
Thomas Rare Disease Day

By Keri Ninness, in honor of rare disease month and our privilege in raising someone with it.


In years past, this month meant validating and honoring Thomas and his compatriots in their daily trials, silent sufferings, and herculean efforts for normal tasks.


In the 10 years living with rare disease, our lives have largely revolved around Thomas’s therapies, medical specialists, school-based interventions, and daily trial and (so so often) error to find solutions to his challenges.


Rare disease has meant years of sleepless nights because his uncooperative hands couldn’t pull up his blankets or his sensory processing struggles sent him sleeping in our closet or outside our door.


It has meant asking our other children to please hold on, give mama a minute, and to forgive her when she never came to them after that minute was up. It has meant siblings striving to understand their brother’s needs and having to (so so often) prioritize his over their own very real, very valid needs.


It has meant years of filling out forms, talking to insurance companies, and following up with doctors, therapists, coaches, teachers, and administrators.


Lately, though, rare disease is different. He has miraculously graduated from outside of school therapies. He only sees a few specialists every few months and he is thriving in school. Instead, rare disease has come to mean, “why am I different? Why is this hard for me? Why do I get picked last? Why does a huge crowd at a church small group feel intolerable to me? Why does my stomach hurt all the time? Why do I melt down sometimes?”


Rare disease now is about coming to terms with the hard, good story we promise Thomas that God is writing for him. It is about helping him be proud of who He is and whose He is. It’s about celebrating big wins and talking through hard losses.


To all the children walking with rare disease, never forget this - You are a damn rockstar. And to the parents and caregivers? God makes zero mistakes but yes, this crap is hard every day and we see your silent suffering. We raise our vodka tonic to you.


To Mary Kate, Tim, Elizabeth and David- we are so sorry for the times you have had to wait or felt unseen while we had to prioritize Thomas. This good, hard story is yours too and we pray you steward it well, infused with the compassion, empathy, and understanding that can come from loving someone rare.


To Thomas, Jeremiah 29:11 my boy. A front row seat to His plans for you is among my very greatest privileges in life- even if you give dad all the credit for your successes 💙

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Newborn Genetic Screenings

The Power of Newborn Genetic Screenings: How Newborn Genetic Screenings Can Change the Diagnosis

By Penelope Gatlin • 05 Oct, 2023
By Penelope Gatlin October 2023 When our son was born in 2012, he was hypotonic, severely jaundiced, had feeding difficulties and features such as epicanthic folds and small low set ears. We were told immediately that doctors had suspicions of a genetic syndrome. At that time, genetic testing was limited and once abnormal karyotype, Trisomy 21, and Fragile X were ruled out, we left the hospital with an 8 day old and no diagnosis. While no testing was available at that time to identify the ultra-rare syndrome my child had, because it wouldn’t even be identified until 4 years later, I can only imagine the difference it would have made to our journey to have such an answer sooner. Instead, we were unprepared and actually unaware that just because a diagnosis hadn’t been made then that it didn’t mean there wasn’t in fact a rare disease present. Instead, we dealt with issues as they came and worried and wondered what would be next. From feeding issues and reflux and constipation, to low muscle tone and delayed walking, to speech delay, social and emotional delays, toileting delays, diagnoses of developmental delay, anxiety, situational mutism, sensory processing disorder, and autism, until finally genetic testing that revealed the diagnosis that we’d waited 7 years to find out. While receiving a diagnosis can seem scary, not having an answer but knowing there must be one is even more so. In 2019, the day I clicked onto the portal to see the test results, the largest word on the page was POSITIVE. My heart stopped for a second. For the first time, I read the words “Okur-Chung Neurodevelopmental Disorder.” A roller coaster of emotions ensued, including sadness that we hadn’t known this from birth because it would have made us as parents more prepared, and given us more understanding about what might arise next. Relief that we had an answer, grateful that this syndrome had been identified and that he was among one of the first hundred diagnosed with it in the world, and glad we had the privilege to have access to the testing. Excitement that we can participate in future research. Fright that there’s so much we don’t know about OCNDS, and happiness that there is something that we do. A feeling that we are no longer shooting in the dark and have a small but supportive community to rely on and learn from. I am hopeful that one day, all newborns with features like my child will be tested at birth, so parents can have access to the answers, support, and interventions and therapies that can best help their child as soon as possible.
Autism Diagnosis

Why I Should Have Gotten the Autism Diagnosis for My Child Early On (or Why I Did Not)

By Terri Jordan • 23 Aug, 2023
For 16 years, my child displayed numerous symptoms that left us searching for answers, but a genetic diagnosis remained elusive. I considered having my child evaluated for autism to shed light on their situation. However, when I reached out to teachers, doctors, and therapists, I received frustrating responses: “Your child is too friendly to be autistic.” This statement made me doubt the possibility of autism because my child was sociable. “Your child can transition from one activity to another – they are not autistic.” Hearing this, I questioned whether my child’s ability to shift activities invalidated the need for an autism evaluation. “Your child can look me in the eye and answer questions – they are not autistic.” Observations like this made me second-guess the idea of autism, even though my child faced various challenges. “Getting a diagnosis that does not apply to your child would be a big waste of money.” Despite my persistent concerns, this cautionary advice about the evaluation costs left me hesitant. We finally pursued an evaluation when my son turned 20, and it confirmed that he is indeed on the autism spectrum (severe side). Looking back, I regret not taking this step sooner. I should have pursued the autism diagnosis before we received the genetic diagnosis. There are several benefits we could have gained as a family if we had pursued an early diagnosis: “Early Support Is Crucial:” I now realize that early intervention could profoundly impact my child’s development. We could have accessed the right services and therapies much earlier with a diagnosis. “Understanding My Child Better:” I struggled to comprehend my child’s behaviors and communication difficulties. An earlier diagnosis could have provided insights into their unique needs and thought processes. The education could also help me explain how to react to my child’s behavior to family members. “Tailored Guidance and Resources:” A diagnosis could have opened doors to specialized resources and guidance, enabling me to provide the best possible support for my child. “Connecting with Others:” Being part of the autism community might have connected us with other parents who understand our experiences. Sharing and learning from each other could have been invaluable. “Planning for the Future:” Knowing more about my child’s strengths and challenges could have helped me better plan their future, including education, career, and overall well-being. Depending on your location, many states offer funding and support if your child has an autism diagnosis. I wish I listened to my voice instead of being swayed by experts who didn’t fully understand my child’s situation. Ultimately, I know this decision is significant, requiring careful consideration by parents. Looking back, I wish I had trusted my instincts and sought an evaluation sooner to improve my child’s life.
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