Now that it’s officially October, it’s time to celebrate my personal favorite holiday – Halloween. That means haunted houses, scary movies, creative costumes, and spooky decorations. One Transcona family is celebrating the holiday with themed decorations. This year, their theme is Halloween at Hogwarts, and they’ve gone above and beyond.
The Howards have been decking out their home for the past four or five years for a very special cause: to raise money for rare disease research, specifically NGLY1 deficiency. This is because Willow, one of the family members, is affected.
All of the money raised through their personal haunted house will go towards research on a cure, which is being conducted at a center at Stanford. In Willow’s father’s words:
“That’s all we want for her. To have a normal life because she is my princess. You know there’s no one that squeezes my heart like she does type thing so yeah, it’s all about her.”
About NGYL1 Deficiency
N-Glycanase (NGYL1) deficiency is an extremely rare, genetic, neurological condition that is the result of a mutated NGYL1 gene. This gene is passed down in an autosomal recessive pattern, and it results in a lack of the NGYL1 enzyme. With this dearth, the enzyme cannot perform its normal functions and remove malfunctioning proteins. These proteins then begin to accumulate, causing the symptoms:
- Liver dysfunction
- Weak muscle tone
- Poor reflexes
- Developmental delays
- Lack of tears
- Seizures
- Abnormal EEG findings
- Constipation
- Movement disorders
It’s important to note that every NGYL1 deficiency patient is unique, but they all typically experience severe symptoms. Most affected individuals do not live past age ten. While there are research efforts in place, there is no cure for this condition. Treatment is symptomatic.
Find the source article here.
