Huntington's disease

Mother started an organisation to raise money for the rare condition of her son

 

A mother is fighting for the life of her son. In a rare instance, she has started a  foundation to collect money for the disease of her son. The mother in question is Monica Weldon who has her son Beckett suffering from the disease caused by an alteration(mutation) in the crucial SYNGAP1 gene. This gene is responsible for a protein which is behind brain development. Any defect in this gene is responsible for different diseases such as Huntington’s disease, Parkinson’s disease etc. The mutation was itself brought to light in the year 2009 and has been since then known to cause epilepsy and autism.

 

She talked about her son saying that nobody was able to tell for how long her son would be able to live “When Beckett was diagnosed, no one could tell me the prognosis, the lifespan—really anything.” Although as a mother, Monica was able to detect that something was wrong with her son when he was just a baby and was aged 4 months. She was able to see that his mental development lagged much behind his twin sibling. 4 years of age, the condition of Beckett was recognized as a one-of-its-kind neurological issue at the Texas Children’s hospital. Prior to that diagnosis, Beckett had already gone to three neurologists and almost 19 general physicians.

 

There was also only one research paper which had been printed so far on this rare neurological condition. So, Weldon made it her responsibility to make people know what her son was suffering from, she made it a point to inform all the families who were facing the same issues as her, by making a Facebook page. Weldon also got rid of her job, to actually, start the organization Bridge the Gap, which took 24 patients under its wing. Now it has almost 250 patients whom it takes care of. Apart from securing funding, the job of Weldon’s organization is to act as a bridge between the patients and the researchers as its name suggests. Now, almost 7 laboratories in the world, are researching about the alteration in the SYNGAP1 gene.

 

Researchers have found that, due to this gene, problems like brain plasticity are caused. And if the research is successful, there can be a development of a cure for problems like Huntington’s disease, Parkinson’s disease, dementia and Alzheimer’s disease. Weldon puts a lot of efforts as the CEO of this organization and travels to different parts of the world, just to inform authorities(both state and federal) about the rare diseases and their patients. In fact, owing to efforts of Weldon, 7.5 million dollars have been collected as research money so far.

 

Source URL: https://communityimpact.com/houston/cy-fair/features/2017/11/17/bridge-gap-syngap-education-research-foundation-cyf/

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