Average-sized parents stunned as 3 of their 4 kids have rare dwarfism

Mail Online | 8/15/2018 | Mary Kekatos For Dailymail.com
Coraav (Posted by) Level 3
Click For Photo: https://i.dailymail.co.uk/i/newpix/2018/08/15/17/4F1D888C00000578-0-image-a-2_1534349525820.jpg


Click For Video: https://video.dailymail.co.uk/video/mol/2018/08/15/1238668587674978836/1024x576_MP4_1238668587674978836.mp4

When Christopher Rea was born, he was a healthy baby who was hitting all his developmental milestones on time.

But when he was around 18 months old, doctors started to notice that his knees would knock together, his feet turned in and his chest was sunken in.

Age - Form - Dwarfism - Children

It wasn't until he was age four that he was diagnosed with a rare form of dwarfism that affects just one in 250,000 children worldwide.

His parents, Carrie and David, were surprised because neither of them had the disorder nor did their older son DJ.

Years - Couple - Newark - Delaware - Daughters

Years later, the couple, from Newark, Delaware, was stunned again when both of their younger daughters, two-year-old Ashlyn and three-year-old Ember, were diagnosed with disease.

All three have undergone multiple surgeries and are on medications to treat their symptoms, but, because of their short stature, suffer from breathing difficulties that could kill them before they reach adulthood.

SCROLL - DOWN - FOR - VIDEO

SCROLL DOWN FOR VIDEO

Morquio syndrome, also known as Mucopolysaccharidosis Type 4, is a rare, inherited birth disorder that affects one in every 250,000 births.

Mutations - GALNS - Gene - GLB1 - Gene

It is caused by mutations in the GALNS gene or the GLB1 gene, which provide instructions for producing enzymes that break down long sugar-molecule chains known as glycosaminoglycans, according to the National Institutes of Health.

These molecules help build a number of different body parts including skin, tendons, ligaments, cartilage and bone.

Syndrome - Trait - Parents - Carriers - Gene

The syndrome is an autosomal recessive trait, meaning both parents must be carriers of the gene that causes Morquio for their child to be diagnosed with it.

Although symptoms usually are not present at birth, they appear between the ages of one and three and include: short height, abnormal bone development, knock knees, a large head, and joints that bend easily.

Disease - Meaning - Worse - Child - Ages

It is a progressive disease meaning symptoms become worse as the child ages.

Morquio can damage a child's physical capabilities and cause...
(Excerpt) Read more at: Mail Online
Wake Up To Breaking News!
Sign In or Register to comment.

Welcome to Long Room!

Where The World Finds Its News!