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.
If I don’t have a topic in mind when it’s time to write a column, I read articles. I look into the lives of other siblings of special needs individuals, delving into the struggles, pains, and joys of their respective experiences. From this, I usually find something that I can relate to in my own life, and I let the writing guide me to my own ideas. Read More
Now that my sister is gone, photos are one of the main ways I feel that I can connect with her. Whenever I’m missing Blair, I look through old photos and memories. I find it healing to edit photos of us creatively to be symbolic and make it feel new. Here are some of those edits. Read More