24-year-old Georgia Hughes was concerned when she noticed that her son Myles, age 3, had missing teeth. After a number of doctor visits and MRIs, Myles was diagnosed with 4H syndrome, a rare leukodystrophy. Further testing confirmed that Myles had the POLR3B mutation, one of the three main mutations associated with this condition.
According to The Leader, Georgia is no longer working, dedicating her time to caring for Myles. At this time, he requires a high level of care. Georgia is also extremely passionate about raising awareness on a wider scale. She explains that there are over 60 different leukodystrophies, progressive diseases that affect the central nervous system (CNS) through myelin sheath destruction. Unfortunately, no treatments or cures exist for 4H syndrome.
Currently, Georgia is working to raise £2,000 (approximately $2,643.14) for the Yaya Foundation. The organization’s mission is fighting for those affected by 4H leukodystrophy, providing educational and emotional support, raising awareness, and spurring research. She feels especially connected to this organization which assisted her in the beginning of her journey.
So far, Georgia’s fundraiser has raised £1,085 to support the Yaya Foundation. If you’d like to donate to Georgia’s cause, you may do so here.
4H Syndrome Leukodystrophy
POL3RA, POL3RB and POLR1C gene mutations cause 4H syndrome (also known as 4H leukodystrophy). These genes are inherited in an autosomal recessive pattern, meaning those affected must inherit one mutated gene from each parent. 4H syndrome is a subtype of leukodystrophy. The 4H stands for hypodontia (missing teeth), hypomyelination (lack of myelin), and hypogonadotropic hypogonadism (delayed or absent puberty). Symptoms of this rare genetic disorder usually appear when patients are toddlers. These include:
- Muscle stiffness
- Abnormal gait
- Delayed milestones
- Dystonia (uncontrolled muscle contractions)
- Ataxia (impaired coordination)
- Learning disabilities
- Nearsightedness
- Short stature
- Tremors
- Teeth abnormalities, including missing teeth or teeth present at birth
- Balance problems
- Difficult-to-understand speech
- Absent or delayed puberty
- Seizures
Learn more about 4H syndrome.
