ELOISE

Eloise wants to participate…to join in with her family and friends being active and socializing. She wants to feel a part of it all—to play, talk, enjoy a meal, laugh, dance, ski, ice skate…do what the other kids living in Western NY can do. We aren’t sure if she understands fully that she struggles physically and verbally, but she doesn’t seem to mind - if you were to ask her if she wants to go do something like her family or other kids, if she could talk in a sentence she’d tell you, “Sure! I’ll figure it out.” The neatest thing about our girl is that when she’s determined, there is no quit in her. Whether it’s rock climbing or wall climbing - she’ll spend hours trying to figure it out regardless of how high or tough it is. Her drive gives us incredible hope for many walls to be scaled in her life.

DIAGNOSIS

Her therapists and doctors locally were unable to provide a clear diagnosis as we fought to understand why so much is medically happening with our daughter. She’s so cognitively aware and extremely social. Shes a little girl full of wants and ideas she can’t fully express yet. She runs like a penguin with her turned out legs and a goofy chuckle. Eloise has faced many medical complications including: emergency abdominal surgery at 14-mos-old, a neurological disorder known as Dandy Walker Syndrome causing muscular coordination challenges, pre-cancerous metaplasia being treated in her small intestine, delayed walking, limited speech, tremors, cyclical vomiting syndrome (it’s as fun as it sounds), vision concerns, ear infections, etc. The medical needs seem to compile over the years with “of course she does” as common response from her family. Medically, that list seems so unrelated, but thanks to the amazing genetics dept. at Children’s Hospital of Philadelphia (CHOP), we now know Eloise is a part of the rare disease community - less than 100 kiddos in the world are diagnosed with her rare condition called CHAMP1.

To learn more about CHAMP1 visit:

https://champ1foundation.org/

Facing something so few people know about, with research happening but more studies needed, our family chooses to approach it like Eloise and her love of rock climbing…yea, it’s gonna be hard, but if other kids can, why can’t I! We also have learned, as has Eloise, it’s OK to ask for “help.” If you would be so kind as to consider a donation of any size honoring Eloise and kiddos like her, we promise to do our part in using it for continued research and medical treatments. We so badly want to give her all the opportunities she’s very willing to fight for. CHAMP1 gene therapy, cell therapy and so much more is a possibility for her and others—we’re on the cusp of great breakthroughs! Look forward to sharing her progress and updates on medical advancements with you in the future!

CHAMP1 RESEARCH FOUNDATION

The CHAMP1 Research Foundation is an organization created for parents of children with developmental delay, hypotonia, cerebral palsy, autism, and epilepsy among many other diagnoses as a result of a change in the CHAMP1 gene. There are currently less than 100 children diagnosed worldwide, making it ultra-rare. The foundation is in a critical position to potentially advance toward clinical trials using a common medication called Metformin and in the past months is making all efforts to raise money to start testing this medication.

ABOUT CHAMP1

🧬CHAMP1 an ultra rare genetic disease discovered in 2015. It is located on chromosome 13 and is said to be crucial in cell division called mitosis. Patients have a reduction in the CHAMP1 protein below the 50% which is necessary for proper neurological function and development.

CHAMP1 is most commonly a De novo mutation, meaning it is not inherited from the parents but completely new to the genome of the individual.

Check more information about CHAMP1 here: https://champ1foundation.org/c...

To meet other CHAMP1ONS like Eloise please visit https://champ1foundation.org

Instagram: @CHAMP1Research

Facebook: CHAMP1 Research

Eloise and family for CHAMP1 RESEARCH FOUNDATION

Donate to support research for a cure or treatment for CHAMP1 ultra rare gene mutation