Emma’s Story Living with MAND

Even though it seems like the progress may be slow, they will get there and you will feel so much joy watching them overcome their challenges.

Nicole, parent of Emma, an 8-year-old with MAND

What is your family like?

I think we’re pretty normal…we love music and art and being active. My girls are dancers and gymnasts.

What do you do for fun?

We ride our bikes and scooters. We also love to go to the movies, or bookstores or the trampoline park.

Tell us about the biggest hardship you face.

Our biggest hardship is helping Emma self-regulate. She has so many big emotions and a lot of anxiety so we’re always working to find solutions that help in the moment but also teach E to use her tools to help her when I’m not right there to remind her to breathe.

What motivates you to participate in research? 

Our story is a little different than a lot of other 2qtie…Emma has a mutation and she’s the only one with her variant so it was really difficult for her doctors to diagnose her. The genetics team at Stanford, although they are amazing, didn’t find her diagnosis until she was nearly 7. Emma was already in early intervention programs for speech and occupational therapy but we didn’t know the cause until she received her diagnosis and I had to push some of her doctors to keep going. One of her doctors told me to give up, that’s I’d never know the answer. Because this condition is so rare and there’s not a whole lot of information out there, research is so important for all of the kids with this condition but also those who may also be in a similar situation as Emma was.

How do you feel you are helping Simons Searchlight learn more about rare genetic changes?

Any information shared can be used to help others.

What is one question you wish researchers could answer about this genetic change?

I would love to know the extent of what the MBD5 gene is responsible for and all the possible challenges we could face.

What have you learned about your or your child’s genetic condition from other families?

Everyone is so different but overall, I’ve learned how much joy and love 2qties spread.

If you could give one piece of advice to someone recently diagnosed with the genetic change in your family, what would it be?

Routine is everything! And be as analytical as possible. There are solutions that will help so much, you just have to find what works for your family. Also, even though it seems like the progress may be slow, they will get there and you will feel so much joy watching them overcome their challenges. I cried the first time Emma used regular scissors. Something I didn’t think twice about with my older daughter. There are so many beautiful moments like that.

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