Close
Close
People News

Average-Sized Parents Stunned as 3 of Their 4 Kids Have Rare Dwarfism

4.0
4.0 from 2 votes
Thursday, August 16, 2018

Learn more about:

Clinical Trials

Newark, DE - 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.

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 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.

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

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.

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.

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

Morquio can damage a child's physical capabilities and cause enlarged organs, scoliosis, a heart murmur, and hernias.

Cognitive function does not affect most children with Morquio but they may have difficulty walking or be confined to a wheelchair.

However, some children may have breathing or cardiac problems that persist into adulthood.

There is currently no cure for Morquio although current treatment options include enzyme replacement therapy, gene therapy and bone marrow transplants.

Christopher, 18, has all the classic Morquio symptoms and lost the ability to walk early on, crawling to get around

'He stopped walking when he was about six or seven. That was really difficult.' Carrie told BarcroftTV.

'It was hard for him, he had a hard time making friends because he was already shy, and then he couldn't run and play with the other kids.'

Christopher admits that his condition has affect his self confidence and that because he's so short, people think he's younger than 18.

'He did have to deal with bullying, and he was pretty miserable [at school], so we withdrew him and we home-schooled him,' Carrie said.

'He did so much better. He doesn't seem to miss going out and mingling with other people.'

It was discovered early on that his two younger sisters, Ashlyn, two and Ember, three, also have the disease.

However, neither of the girls have enlarged organs or trouble walking, making the physical challenges they will experience more manageable.

Carrie says Christopher, his sisters and their older brother, DJ, all are close but that there is a special bond between the younger siblings.

'DJ is huge, and at first the girls would be scared of him because he is just a really big guy,' Carrie said.

'Christopher they loved from day one because he is small and on their level.'

Dr Shunji Tomatsu, an orthopedist who treats the siblings, told Carrie and David that their children would have difficulty breathing as they age and could die in their sleep due to obstructed airways, reported The News Journal.

This is because, in children with Morquio, the lung and neck stop growing but the trachea grows to an average size.

Christopher has undergone surgery that has shortened his trachea to a size that matches the size of his body as well as surgery to stabilize his spine.

Ashlyn has also had the spinal surgery and Ember will likely need it by next year, according to The News Journal.

All three of them receive enzyme replacement therapy once a week via an IV, which helps the organs in their chest grow properly.

Researchers are currently in the pre-clinical stages of developing drugs that could help sufferers receive the enzymes they are missing.

Carrie said her children are very happy and have big personalities despite the difficulties.

'I do believe the children have very big characters, they are their own people,' she said.

'Christopher is a character all by himself, he really is. He is very funny and very stubborn, very demanding, and you would think that with an attitude like that he'd be a lot bigger.'

Author: Mary Kekatos
Source: Dailymail
4.0
4.0 from 2 votes
Free Newsletter
Related Videos
by Scott Harwood
253 views
by Abidemi Uruejoma
564 views
by Abidemi Uruejoma
4,077 views
by Abidemi Uruejoma
13,679 views