WALES: The doctors in Wales recently diagnosed a boy with a rare genetic disorder whose mother had brought him with the complaint of missing teeth.
Georgia Hughes, from Holywell, witnessed that Myles Tucker, her three-year-old son, had some missing teeth. She brought it up with his doctor. The doctor referred some tests, which revealed that her son has been living with a rare genetic condition, i.e., 4H leukodystrophy.
Georgia told the local news agency that the condition was so rare that it had affected only 120 children worldwide, and Myle's case was only third in Wales.
4H leukodystrophy has been studied as a rare genetic disorder that affects the nervous system. It is the combination of hypomyelination (the body is unable to produce myelin which covers and protects the brain and spinal cord nerve cells at normal levels) and two other conditions, i.e., hypogonadotropic hypogonadism (a condition that results in delayed puberty) and hypodontia (having fewer or abnormal teeth).
Georgia said that Myles had two MRI scans to confirm the disorder in his case. However, atypically delayed puberty couldn't be picked up until the child would generally experience those bodily changes, she said.
She said as the general life expectancy is ten years for a child with leukodystrophy, he would need more professional care and support as he grows.
Therefore, Myles mother has set up a fundraising page to find a cure for Myle's illness.