Joaquin_NeuronsFor 3 year old Joaquin from Chile, it all began with his foot bending inward.
Doctors ruled out foot sprain. Then came the downward spiral. Increasingly he was losing motor control and had difficulty walking. He underwent a battery of tests, x-rays, magnetic resonance, but there was no diagnosis. Physical therapy proved futile. Generalized, progressive dystonia was ruled out too.
When Joaquin turned 4, and his condition was only worsening, they turned to Mayo Clinic. However, additional extensive testing did not bring forth a diagnosis.
The family was referred to Rare Genomics Institute, which provided them with a crowdfunding platform to raise funds for genomic sequencing. Through the father’s persistence, they were able to raise the funds through bingo contests and friends. Partnering with Washington University in St. Louis, Rare Genomics was able to help identify the possible genetic basis of Joaquin’s disease. Based on the results, Rare Genomics connected Joaquin’s family to scientists who are experts in the field, thereby facilitating a personal research project for Joaquin, that might help unravel his debilitating and deteriorating condition.
As of today the research is progressing well. One of the scientists, Dr. Van der Kant was able to grow neurons in vitro from Joaquin’s mutant fibroblast cells. The nerve cells pictured here is a glimpse into the research in action. Much research is still required before scientists find indicators that might shed light on Joaquin’s disorder
Click the link to see some of the patients Rare Genomics is currently assisting.
Rare Genomics Institute acknowledges Dr. Van der Kant for permission to use the photograph.