A breakthrough research to help better the lives of children diagnosed with CHOPS Syndrome
Cutting-edge research going on, giving families home in the Rare Genetic Disorder community specifically for AFF4 Mutation: CHOPS Syndrome.
Auckland
Lucian is also diagnosed with an ultra-rare genetic disease called CHOPS syndrome, 1st and only one so far in New Zealand. CHOPS stands for Cognitive delays, Heart issues, Obesity, Pulmonary issues, and Short stature. There are only 28 kids in the world diagnosed with this genetic disorder, so we do not yet know the quality of their adult life and there is currently no treatment.
Lucian’s journey has not been easy. At 8-month-old, he had heart surgery to fix a heart defect, was on oxygen support until today, has bi-lateral hearing loss, struggles with obesity and managing his appetite, has been hospitalized when catching common colds, is non-verbal and didn't start supported walking until he was 3yo and still needs a walker to be able to be mobile. Despite his challenges, Lucian still manages to enjoy life, bring joy to those around him, and work hard to improve his abilities. He is our little warrior. But we need your help!
Currently, there is cutting-edge research going on giving families in Rare Disease communities hope.
There are biotech companies; developing cutting-edge AI technology to discover and develop treatments for the millions of kids worldwide living with a rare diseases. In this research, many are already approved FDA medicines being repurposed to help kids with rare diseases. But the research for these medicines for CHOPS is expensive.
We are raising US$300,000 to get into research
So far our community have raised US$85,000+
Use of funds
State-of-the-art research; find medications that slow the progression of CHOPS and potentially improve our kids' verbal skills, lung disease, growth, and abilities. Time is essential, the older our kids get the less chances that interventions will help.
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Latest update
CHOPS SYNDROME RESEARCH FUND 21 November 2023
Thank you for all your generous donations. I have transferred all your donations to Lucian's Bank Account, and we will be doing more initiatives to gain more donations as we are still far from our target. We are staying connected with Fundazione CHOPS and the rest of the families of children with CHOPS children.
Latest donations
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