Our inspiration...
Elouise is just one of these sweet children affected by this disease. Born in 2005, she initially showed no symptoms of any neurological conditions. She began walking, running, and playing just like any other kid her age. Then, around age 3, she started to pull her right arm up when running. Someone suggested an MRI which showed delayed myelination and an under sized cerebellum. Thus began the endless journey of test after test. Every body organ was tested, but no definitive cause was identified. Over the next few years, her condition deteriorated.
Now she cannot walk without assistance, much less stand, and she has no balance. She has lost use of some of her gross and fine motor functions, which requires her to be fed, bathed, dressed, and mobilized. Her receptive and cognitive skills are strong, however her inability to clearly speak impairs her communication. A condition called Dystonia causes uncontrolled muscle movement in her arms and neck, which is very painful. She receives Botox injections quarterly under anesthesia to help calm her muscles. Along with muscle relaxants, this is the only treatment that has helped so far, but it is diminishing in its effectiveness. Recently, she underwent surgery for partial hip subluxation and spinal fusion due to the force this disease has on her muscles. She has seen many many doctors and therapists, most of whom are only able to treat the symptoms and not the cause.
This is an example of how H-ABC evolves in a child. Other children with different variants of this disorder, have seizures at a young age, many are tube fed. Side effects of constipation, vomiting, difficulty swallowing and any array of other conditions are not uncommon. Mobility issues are common to all, progressing over time. Sadly, life expectancy is shortened.
Through our connection with other families, we have noticed a common theme among all children affected by H-ABC. They are all happy and content children. Most attend school regularly with varying degrees of support. At a minimum, all the children need physical therapy. Elouise, as an example, never complains, or asks why she is different from her friends. These children are a blessing to everyone they meet!
Sadly, some children have passed away from this disease, see their stories in the links below:
Below are videos about Elouise and the progression that affects her and children like her..