For the first two years of his life, Rafe Hibben seemed to be progressing like a relatively healthy little boy. But when he was two years old, Rafe’s health went downhill. He began having to take frequent trips to the hospital. His mother, Jessica, was scared. What was happening with her son? According to KRQE, the Hibben family began fighting for answers; testing eventually showed that Rafe had an ultra-rare genetic condition known as IQSEC2, or IQSEC2-related disorder.
Since Rafe’s diagnosis, his family has spent an immense amount of time in the hospital. Since IQSEC2 is still somewhat unknown and misunderstood, the family often has to travel for care to work with experienced physicians. So far, Rafe’s condition has taken them to five states to pursue different therapeutic options.
Now, at 7 years old, Rafe is being treated at UNM Children’s Hospital in Albuquerque, New Mexico. His mother believes that this is the perfect place to manage his complex and changing medical needs. While the Hibben family works with doctors to provide Rafe with the best standard-of-care, Jessica also makes sure to do all that she can to bring fun and brightness to her son’s day.
IQSEC2: What We Know
Also known as IQSEC2-related epilepsy, X-linked intellectual disability 78, or IQSEC2-related disorder, IQSEC2 is a rare genetic condition caused by IQSEC2 change-of-function mutations. Most cases occur spontaneously rather than being inherited. The Genetic and Rare Diseases Information Center (GARD) explains that symptoms of this condition often manifest within the first two years of life. Symptoms may include:
- Motor and language development delays
- Microcephaly (an abnormally small head shape)
- Hypotonia (poor or reduced muscle tone)
- Crossed eyes
- Inappropriate laughing or crying
- Unusual head shape
- Autism spectrum disorder
- Hand-flapping or other repetitive hand movements
- Developmental regression
- Feeding difficulties
- Seizures that are difficult to control with medication
There are no specific treatment options for IQSEC2. Early intervention may be beneficial. While many individuals have treatment-averse IQSEC2, therapies like rufinamide and lamotrigine have been shown to effectively reduce seizures in some individuals.
