The chance that your family will have a child with Morquio syndrome is 1 in 250 thousand. The chance that one couple will have three babies with this syndrome is incredibly low.
But nevertheless, this is exactly what happened to the Rea family of Newark, Delaware.
Morqui syndrome is an inherited disorder characterized by severe skeletal deformity. A person with Morquio's syndrome (aka Mucopolysaccharidosis type IV) remains short forever and, moreover, often with distorted facial features.
When Carrie and David Rea had their first child, D. G., everything was fine with him, he grew up completely healthy. A few years later, a second boy was born in the family, who was named Christopher and from 18 months he began to have problems with limbs.
At the age of four, Christopher was diagnosed with the very rare Morquio syndrome, which surprised his parents. None of them have ever had patients with such a diagnosis in their families.
18-year-old Christopher.
They were even more amazed when their next two children, both girls Ashlyn and Amber, also found themselves with Morcio syndrome.
Now all three children have big problems with joints, breathing and much more. They receive various medications, but no doctor can guarantee that any of them will live to adulthood.
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Morquio syndrome is caused by a mutation in the GALNS or GLB1 genes that produce enzymes that break down long chains of sugar molecules known as glycosaminoglycans. These molecules help build a number of different parts of the body, including skin, tendons, ligaments, cartilage, and bones.
The syndrome is autosomal recessive, meaning both parents must be carriers of the defective gene. Carrie and David were just very, very unlucky.
Morquio syndrome does not appear immediately after birth; it is usually diagnosed only at 3-4 years old, when the child begins to actively walk and run. It includes short stature, deformities of bones, touching knees, a large head, and easily bending and twisting joints.
With age, the syndrome can cause hernias, heart murmurs, scoliosis, deformity and enlargement of various internal organs. At the same time, the mental abilities of people are not affected.
There is currently no cure for the syndrome. Patients are mainly provided with wheelchairs and pain relievers. But all three children also receive the new enzyme replacement therapy once a week through an IV drip, which helps the organs in their breasts grow properly.
The fact is that in people with this syndrome, the neck and lungs stop growing, but the trachea continues to grow. Because of this, Christopher had to go through surgery to shorten the trachea, as well as surgery to strengthen the spine. Two of his sisters also underwent spinal surgery.
Christopher is now 18 years old, stopped growing at the age of six, cannot walk and cannot even crawl. But the most difficult thing for him is due to the fact that it is very difficult to find friends with such a disease.
At school he was brutally teased and therefore he completed his studies at home. Subsequently, he managed to overcome stiffness and fear and he began to go out and communicate more.
Despite all the problems and difficulties, Carrie and David say that all their children live a good and happy life. They develop as individuals and do not dwell on their sores.