February 2026: Genetic Results

Emma’s genetic testing came back, and it does not show any concerns for spinal muscular atrophy—a huge relief! It did, however, reveal a mutation in her FZR1 gene. New mutations in this gene are sometimes associated with Developmental and Epileptic Encephalopathy (DEE). If these mutations are inherited from a parent, they are generally considered benign and not a cause for concern. Sometimes mutations simply occur spontaneously and have no significance.

Emma’s clinical presentation does not resemble a typical DEE case, but this mutation could potentially explain some of her symptoms, especially since everything else has come back normal. She also had an electroencephalogram (EEG), which showed no signs of seizures—a hallmark feature of DEE.

We then proceeded with parental testing to see if either Pug or I carried the same mutation. If one of us did, it would likely be benign. Sure enough, the testing revealed that I share the same FZR1 mutation. This was such good news, as it essentially rules out Developmental Epileptic Encephalopathy.

That said, the question remains: what is causing her symptoms? Often, hypotonia (low muscle tone) can be idiopathic, meaning of unknown cause. With all her testing coming back seemingly negative, we have to accept that this may indeed be idiopathic hypotonia. For us, that’s the best-case scenario.

We plan to continue with physical therapy and occupational therapy, and we are hopeful to see Emma make progress and move past this challenge.