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Notre petit soleil

Jennifer Sills • Feb 25, 2021
Helio

by Aurélie


Aujourd’hui est une journée de sensibilisation aux maladies génétiques rares..

Nous ne nous étions jusque là jamais réellement intéressés au sujet.. Nous ne savions pas à l’arrivée d Helio que nous vivrions un véritable combat avec et pour lui.. Un combat quotidien qui a démarré dès ses 9 mois avec des heures, des jours et des mois de recherches, d’acharnement pour trouver de l’aide, comprendre, avancer, se battre contre les préjugés.


On restera 5 ans avec une errance de diagnostic..Et puis, à force de persévérance et de rencontres, nous avons enfin pu poser un nom, avoir une explication sur cette singularité que porte notre bonhomme.


Helio fait partie de cette rare, tres rare famille OCNDS.. On découvre donc depuis 1 an toute une communauté qui nous permet d’échanger sur ce syndrome génétique.. un réconfort auprès de personnes totalement étrangères mais aussi très unies par cette épreuve commune.


Vivre avec helio, un enfant extraordinaire, est un combat permanent, parsemé d embûches mais aussi tellement enrichissant qui nous apprend à nous surpasser..Helio est un véritable rayon de soleil, toujours souriant, combatif, volontaire, et rempli d amour pour les autres.

Nous apprenons à tatons, avec le bonheur de le voir grandir et se developper, et l’espoir de lui permettre de grandir et de trouver sa place dans le monde.

Helio

Our little sun


Today is a day of awareness of rare genetic diseases.

We had never really been interested in the subject. We did not know when Helio arrived that we would be fighting with and for him. A daily struggle that began as early as 9 months with hours, days and months of research, hard work to find help, understand, advance, fight against prejudice.


We have been wandering for five years for a diagnosis. And then, through perseverance and encounters, we were finally able to put down a name, to have an explanation of this singularity that our little man carries.

Helio is part of this rare, very rare OCNDS family. It has been a year since we’ve discovered a whole community that allows us to exchange on this genetic syndrome. comfort to people who are totally foreign but also very united by this common ordeal.


Living with Helio, an extraordinary child, is a constant struggle, full of pitfalls but also so rewarding that teaches us to surpass ourselves. Helio is a true ray of sunshine, always smiling, combative, willing, and filled with love for others. We learn to grope, with the happiness of seeing him grow and develop, and the hope to allow him to grow and find his place in the world.


Aurélie

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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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