Patient Worthy Partnership

I am excited to announce that The B.L.A.I.R. Connection has recently partnered with Patient Worthy. Patient Worthy is a rare disease news website that posts ten new articles each day. My sister, Blair, passed away due to a rare genetic disorder called Sanfilippo Syndrome. We have partnered in a combined effort to raise awareness for rare diseases and siblings’ challenges. The following blog, published by Patient Worthy, is about two siblings who were both diagnosed with the same extremely rare disease.

Alondra, a 14-year-old freshman in high school weighs only 65 pounds. This is a seemingly easy giveaway that she was sick, but initially, the weight loss was attributed to her small appetite, reported Bakersfield. Her father said she always struggled to eat her food, yet when she found herself passing out, the family quickly took her to the doctor to figure out what was wrong.

Doctors were unable to diagnose the problem and strangely weren’t taking into consideration her extremely little weight. Not long after Alondra’s testings, her younger brother, Jorge Jr., started showing signs of weakness in his feet. He was also able to twist his feet in a range of directions, which didn’t seem normal. As his symptoms progressed, he soon was losing his balance too easily. Even the slightest push would cause him to fall over.

It took time before they decided they needed to get Jorge tested as well. While both children showed different symptoms, there were similarities as well. They were referred to another hospital where Dr. Joseph Shen conducted tests on what he believed might be the problem. His suspicions were right.

The kids were both diagnosed with TK2-related mitochondrial DNA depletion syndrome. It’s a rare genetic disorder that deteriorates one’s muscles and is onset from a mitochondrial disruption. Patients tend to lose their functionality, such as walking, eating, talking, etc. Alondra is already experiencing difficulty breathing on her own. Over time the disease progressively worsens.

There are roughly only 45 people diagnosed with the disease, so a lack of treatment and need for awareness is a vastly huge understatement. While there is no cure, there is one treatment that might help limit their symptoms, giving them a better quality of life. Right now it costs $2500 for each treatment, a treatment they would have to have consistently.

The family does everything in their power to care for all their kids and raise money for these treatments as they cannot afford it on their own. If you’d like to donate, please click here.

The Unknown

This blog is by Chloey Rudy, an 8th grader that I met while competing at the Florida Future Problem Solving competition in March. While many people were interested in hearing about my project, Chloey had a special connection. After telling her about the website, she shared her experiences as a… Read More

Image for Henry & Blair

Henry & Blair

Yesterday, the Cure Sanfilippo Foundation launched an awareness campaign about my dog, Henry, and his relationship with Blair. My sister, Blair, and Henry were best friends and he misses her so much ever since she passed away due to Sanfilippo in 2017. Learn more about their one of a kind bond in this video and share to raise awareness for Sanfilippo Syndrome. Read More

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