I enjoyed reading the May 4 Health & Science article “ ‘Why is there a skeleton in the mirror?.’ ” As the director of the 22q Program at Seattle Children’s Hospital, I work within a large, specialized team that provides equitable care for patients with 22q Deletion Syndrome (22qDS, the preferred term for velocardiofacial syndrome, or VCFS). We have more than a decade of experience caring for patients with this complex diagnosis, and articles such as this play an important role in increasing awareness of this rare but impactful condition.

Valid clinical trials are important to advance safe and effective patient care in this population. The drug discussed in the article, metyrosine, remains investigative. Patients on this medication may not be adequately monitored, and they may miss an opportunity to participate in other important ongoing studies if they are taking this medication outside of a research trial.

The Food and Drug Administration regulates investigational drug trials to protect patients and oversee quality and safety of the studies. For rare conditions such as 22qDS, the collaboration of multi-center trials allows investigators to draw conclusions about treatments more efficiently than single-center studies and provides better evidence than individual case reports of the drug as described in your article. Several promising studies of investigational drugs are ongoing for patients with 22qDS.

I encourage any families who are considering taking medications for the treatment of 22qDS to reach out to a specialized multidisciplinary team to discuss their options so they can make an informed and safe decision.

Emily Gallagher, Seattle