By Yartiza Garay
(please see below for Spanish translation of this post):
Our first child was born back in 2013, her name is Camila, she is a loving, caring, joyful and smart girl. After four years we had our second, Gabriel, born in September 2017 funny, energetic and sweet boy.
Gabriel’s pregnancy was a smooth ride. All tests, check-ups and exams came back always normal, doctors never mentioned anything out of the ordinary throughout the entire nine months, which lead me to believe that I was going to have a similar experience that I had with my first born.
The day I delivered Gabriel everything went perfect, he was a big baby weighing 9.5 lbs., all nurses and doctors were in awe of how big he was, they all thought he was the cutest baby.
His first three months developed in a regular manner, he was always attentive, responsive and receptive. It wasn’t until he turned 5 months that I started to notice that he was behind on his milestones. After experiencing his big sister’s development process, it made me notice he was lacking on certain areas of his development, most noticeably his physical development, that’s when I realized something was different.
Months passed by and I kept noticing physical delays. Many doctors and people around me kept saying he would eventually catch up, however that was not the case. It wasn’t until he turned a year old that his pediatrician referred us to a physical therapist, and that’s when the journey for an answer began.
It started with physical therapy, special needs therapy and speech therapy during his first two years. They all helped with his development but he was still behind for his age milestones. They kept implying that he would eventually reach his age-appropriate goals, but deep inside we knew there was something more than met the eye.
We kept working closely with therapists and started seeing different specialists, they all agreed that he was developing well since he wasn’t regressing or stuck where he was at the time. It wasn’t until we were referred to geneticists in 2021, we were given the option to take the whole exome sequencing test, four months later we had our results through a virtual meeting with the genetics team. They told us that Gabriel had a genetic condition called PPP2R5D (Jordans syndrome), which is an extremely rare condition with only 225 cases diagnosed in the world. They kept mentioning that we were doing a good job and to keep it up, nothing more.
After I received the diagnosis, I kept thinking the entire day how there was no one else in my close circle that was going through something as rare and unknown as my family was in that moment. That’s when I decided to do some research in social media. I came across Michelle Fruhschien, whose daughter was also diagnosed with Jordan’s syndrome, she is an advocate for Jordan’s guardian angels’ association. She helped me connect with them and other groups of families who had received the same diagnosis we did.
Having connected with other families via social media who went through the same experience as we did, helped us feel less alone on this new journey. It helped us accept and process it, and I will be forever grateful for their support and guidance.
We will continue to support and encourage Gabriel on this journey that we have been on for the last three years, full of doctor’s appointments, different therapists, school and whatever else comes our way. We are embracing this journey together as a family by taking it one day at a time, celebrating every milestone, no matter how big or small that will take him where he needs to be. We will always be his #1 fan.
Spanish Translation:
Nuestra primera hija nacio en Agosto del 2013, su nombre es Camila. Ella es una nina muy dulce, carismatica e inteligente. Despues de cuatro ano tuvimos a nuestro segundo hijo, Gabriel, nacio en Septiembre del 2017. El es un nino muy divertido, activo y muy dulce.
El embarazo de Gabriel, fue un embarazo muy facil en general. Todas las pruebas y chequeos en el medico siempre eran normales. Los doctores jamas mencionaron ningun tipo de abnormalidad durante los nueve meses de gestacion. Lo cual me hizo pensar que seria un embarazo igual a mi primer embarazo.
El dia del nacimiento de Gabriel todo salio perfecto. El fue un nino por encima del promedio por su peso y talla, pesando 9.5lbs. Todas las enfermeras y doctores les causo mucha gracia y ternura al ver un bebe asi de grande.
El desarollo de Gabriel en general durante sus tres primeros meses de vida no fueron nada fuera de lo comun o tipico de un bebe de su edad. Siempre fue un bebe atento y receptivo. No fue hasta que el cumplio 5 meses donde pudimos empezar a notar que estaba un poco retrazado en su desarrollo tipico. Despues de ver el desarrolo de mi hija, donde siempre estaba en la linea o mas arriba de sus etapas de desarrollo, me hizo notar, como a Gabriel le faltaba nivelarse en su desarrollo fisico. Fue en ese momento donde realmente nos dimos cuenta que algo en el era diferente.
Pasaron los meses y seguíamos notando retrasos físicos. Muchos médicos y personas a mi alrededor seguían diciendo que eventualmente se pondría al día, sin embargo, no fue asi. Hasta que cumplió un año que su pediatra nos refirió a un fisioterapeuta y fue entonces cuando comenzó la aventura en busca de una respuesta hacia todo lo que habiamos observado en su primer ano de vida.
Todo empezo con fisioterapia, terapia para necesidades especiales y terapia del habla durante sus primeros dos años. Todos ayudaron con su desarrollo, pero todavía estaba atrasado mayormente en el area de su desarrollo fisico. Todos seguían insi