Our journey into genetics started w/ Dr. Barbara Crandall at UCLA. She is a wonderfully compassionate and gifted doctor and her staff is just as brilliant, but she was not familiar with PMS. Which isn’t uncommon. With only 1,500 documented cases in the world, there aren’t many doctors that have heard of it. There happens to be another doctor at UCLA, though, who does have experience with PMS, Dr. Julian Martinez. We had the pleasure of meeting him today. He was very kind and took his time with me. His wonderful assistant, Andrea, contacted me prior to the appointment to see if I had any questions, which was very useful to help prepare us all for the appointment today. After the initial physical exam, Darus and our wonderful caregiver, L, were able to leave the appointment and I stayed to have my questions answered. Dr. Martinez taught me/confirmed the following, in no particular order:
- Dr. Martinez felt as though Darus does have fleshy hands – but did not note dysplastic toenails. Given that Darus’ dad and I both have large hands, however, I do not feel as though we can conclusively link this finding to a mutated SHANK3 gene.
- SHANK3 is a gene located in the 22q13 region. Everyone has 2 SHANK3 genes. One from our mother, one from our father. One of Darus’ SHANK3 genes is normal. The other has a very slight mutation.
- UCLA is not participating in the PMS portion of the Developmental Synaptopathies Consortium – but Stanford is. The doctor heading the DSC for PMS at Stanford is Dr. Jonathan Bernstein. (Once the site is ‘active’ – hopefully in September of this year, we will be able to enroll Darus as a study participant.)
- Gene therapy is still, likely perhaps decades away.
- Intra-nasal IGF-1 is being studied to help children (and others) with neurodevelopmental disorders. The doctor seemed hopeful to think that it’s possible that the medication will effectively ‘turn-off’ the mutated copy of SHANK3 and the normal copy will take over.
- UCLA holds a Developmental Neurogenetic Clinic every other month. The clinic invites children, like Darus, to come for a visit and meet with 3 doctors simultaneously – a psychiatrist, a geneticist & a neurologist. The doctors observe the patient and the parents are able to talk about behaviors and/or other concerns they have about their child. From there, the team of doctors will tailor a specific medication program for the child. As of now, we are happy w/ our current medication combination – but this is good to know for the future.
Overall, the appointment went really well. And I feel as though we’re in good hands with our vast team of doctors and professionals helping us!