25 Jan Sanam Kadhoda
Eli is a very energetic and playful kid. He loves Superheroes! His favorite characters are the PJ Masks, and he loves to run around the house imitating them. Eli is the most loving and pure child. He LOVES hugs and kisses and asks for them frequently. He loves to love! To know Eli is to know kindness, happiness, unconditional love and joy for life.
In December of 2016, our family was turned upside down with a diagnosis of an IRF2BPL disorder. We were told Eli would regress and lose his speech, ability to eat, he would become immobile and lose control of his muscles. There weren’t any publications on the disorder, and we were left blind sighted not knowing what to expect and without hope for treatment.
Our family went on the hunt to find researchers who would study IRF2BPL and work on finding a treatment. With only 2 other families to connect with, we brainstormed, and Texas Children’s hospital came up. One of the families was part of the UDN and they had sent a muscle biopsy to Texas Children’s Hospital. We were hopeful they could help with our research.
I sent out an email to Hugo Bellen, a lead researcher at Texas Children’s Hospital. I explained our situation and mentioned that we would like to fund research around this disease. I received a call from Hugo the next day. We spoke in detail about the UDN’s interest in IRF2BPL and his current research confirming pathogenicity of mutations on the IRF2BPL gene. I asked him how we would go about a collaboration with our foundation and his lab. I knew he was the right fit!
I received a call from an unknown number a couple of days later. A man with a European accent answered with “Hello, Can I please speak to Sanam” I immediately replied “Dr. Bellen, is that you?”. He was surprised that I remembered his voice. I then told him “Your voice will forever be tattooed in my memory. You are going to be the person that saves Eli’s life!”
From there, Hugo made us part of the UDN, immediately had us interviewed, visit with doctors and even arranged for a skin biopsy to be done in our hometown and sent to his lab.
We are so blessed and thank God every day for finding Hugo and being a part of the UDN. They have given us a reason to fight and keep hope. I know that one day Hugo will indeed save Eli and other children suffering from IRF2BPL related disorders. We are fighting to allow his personality and soul to shine and for him not to become a prisoner of his body.
Thank You Hugo for answering my email, and for making our dreams come true! You have made the impossible, POSSIBLE!