Helsmoortel-van der Aa Syndrome: What Late Development Meant for Hanna


Hanna was born in April of 2006. My pregnancy, thankfully, was all very normal—as was her delivery. It wasn’t until she was ten months old that we noticed something might be wrong. Hanna wasn’t completing her milestones. She walked late, at age two, but only with assistance.

When she started attending school in 2010, we were able to really see the cognitive delay she was experiencing. So we did a genetic test that showed that she had Dopa Responsive Dystonia (or DRD) a rare condition that effects her movement and the release of dopamine in her brain.

Her neurology doctor prescribed a dose of Cinemet (L-dopa) 25 mg daily and it was as a miracle! So we have been administering this medicine to Hanna since 2010.
However her cognitive delay still was present and she was falling behind her peers really fast; she was placed in the special education class and she was just able to go to the specials classes with her peers (computers, music, gym.)

Because we were still looking for more answers we decided to take another test so we contacted another geneticist from children hospital this year and we got to do an Whole Exome Sequencing and the results showed that Hanna also had a mutation on the ADNP gene that causes Helsmoortel-van der Aa syndrome, a very rare condition that affects not just the regular function of the brain but other important structures such as the heart, immune system, vision, gastric system and some hormonal changes. From what we read about the syndrome, it also shows autism-like behaviors, however hanna hasn’t been diagnosed with autism, despite the many neurodevelopment evaluations done by various hospitals.

 

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