Makayla Alger, patient advocate with TUBB4B, and her mother Joann Alger, discuss their experience with the condition and the need for awareness.
The TUBB4B gene is a gene believed to be involved in microtubule cytoskeleton organization and the mitotic cell cycle.
The condition initially presented in Makayla at the age of two when she first needed glasses. Soon thereafter, her hearing began to worsen. The back-to-back vision and hearing loss led Joann to push for genetic testing, where the TUBB4B mutation was identified.
Now 15 years of age, Makayla requires the use of hearing aids although her hearing has remained fairly stable. However, the vision component of the disease has been progressive, with her loss of night and peripheral vision.
As the family discusses, there are currently no treatments and advocacy groups/organizations for the TUBB4B disease. Joann highlights the frustration about the uncertainty of the disease; not knowing its progression, what symptoms may present, how bad Makayla’s vision might become. The family’s hope is that more awareness can be raised for the disease to stimulate further research and potential treatments.
Makayla has written a book about her condition that can be found here.
To learn more about rare genetic conditions, visit https://checkrare.com/diseases/congenital-and-genetic-conditions/
References:
TUBB4B tubulin beta 4B class IVb [Homo sapiens (human)] – Gene – NCBI. (n.d.). https://www.ncbi.nlm.nih.gov/gene/10383