10 Minutes with: Amanda Schuster (@TheYamQueen)
Meet Amanda Schuster. We've been following her sweet baby girl Emmy on Instagram for a while now. We just love her updates and seeing the way brave little Emmy is growing and changing over time.
Below, Amanda shares some stories of her life with Emmy who was born with a very rare genetic condition called Pfeiffer Syndrome, and the rest of her family including her husband and Emmy's big bro Baron who she absolutely adores, She also tells us how Pfeiffer Syndrome manifests itself and what we can do to make the world a more inclusive place for Emmy.
MTEAM: Tell us a bit about yourself and your family.
AMANDA SCHUSTER: I’m Amanda. We currently live in the Seattle area, but both my husband and I grew up in Kentucky. We have two cool kids, a hairless dog, and a hairless cat. We both work full time. My job is pretty boring phone work for a doctor’s office (sorry, doc!) but I get to do it from home. My husband is a game designer with Wizards of the Coast.
MTEAM: Your daughter Emmy was born with Pfeiffer Syndrome. How common is it? Can you explain a bit about what it is exactly and how it manifests itself?
AS: Pfeiffer Syndrome is very rare. It’s about a 1 in 100,000 birth syndrome. Emmy has a special twist of Pfeiffer Syndrome that is about 1 in 250,000 births.
Pfeiffer Syndrome is a mutation on the FGFR2 gene which doesn’t mean much to me. It’s not hereditary unless you have Pfeiffer Syndrome and then it’s a 50/50 chance that you will pass it on. Neither of us have Pfeiffer Syndrome, so it was just a spontaneous genetic mutation and nothing we did or didn’t do made it happen.
The basics of Pfeiffer Syndrome is that the skull begins to fuse early on in development. Babies have “soft spots” where the skull hasn’t fused together so the skull can expand and the brain can grow. Emmy’s skull fused before birth. That causes pressure on the brain and the shape causes her eyes to look bulging. It also can cause hearing loss. Her midface is squished which causes breathing and eating trouble, so she has a tracheostomy and a feeding tube until a surgery will (hopefully) change that. There are other things that Pfeiffer brings - wide thumbs and toes, tracheal sleeve, fused joints - all of which Emmy has.
MTEAM: Tell us a bit more about Emmy! How old is she? What does she love most? What makes her happy? What makes her uniquely Emmy??
AS: Emmy just turned a year old! She’s been through a lot in her first year to get her medically stable and now she gets to do some developing. She’s a little delayed but is learning and growing and we don’t have any reason to believe that she won’t catch up developmentally.
She loves her brother most of all. She thinks he’s just the greatest. She loves kisses, tickles, and her Oball. She has really learned to love wearing her BAHA hearing aid and making loud kiss noises while giving her kisses on her head make her laugh so much!
MTEAM: What’s a typical day in Emmy’s life like?
AS: Honestly, pretty boring considering all that she’s got going on. It’s pretty typical things just done in non-typical ways. She’s fed by feeding tube at normal meal times. While I work, she hangs out with her amazing nurses downstairs and they play together and she fights naps, just like a typical kid. She does have to have her trach area cleaned every night, which is fairly unusual for most kids and she hates it because it means less play time.
MTEAM: Emmy has a special relationship with her big brother Baron. They clearly adore each other! What does he love to do with her most? Do you have any advice for other parents on how to explain a diagnosis like Pfeiffer Syndrome to a big sibling?
AS: He has really risen to the task of big brother. He loves to do things to help out with her care. He really loves watching Yo Gabba Gabba with her and tickling her.
Baron has always been a really bright, inquisitive kid. For us, we approached Emmy’s differences very directly. We explained what she would likely look like, what she may need to help her grow, and that she would likely have many surgeries in her life. We introduced him to other kids with Pfeiffer Syndrome online. When he got the opportunity to meet some kids close to his age with Pfeiffer Syndrome, I’m super proud to say that he just treated them like any other kids he wanted to play with.
MTEAM: What have been some of your biggest challenges and the best rewards along your journey with Emmy so far?
AS: There have been a lot of challenges. It’s been difficult trying to adjust to what “normal” is for Emmy. She doesn’t meet milestones like an average baby and she has so many medical needs. The biggest challenge for me, truly, has been letting go of what “normal” means and letting Emmy lead.
The best rewards are always her smiles. Seeing her happiness after all of the medical interventions it took to get her growing and stable is so incredible.
MTEAM: What advice would you offer to other parents who are just finding out about a Pfeiffer syndrome diagnosis? What about some advice to the parents of other children who take notice of Emmy’s physical differences?
AS: The best advice I could possibly give another parent getting this diagnosis is to just let the child lead. Find a good team of doctors that will help you advocate and be proactive. Give up on what is “normal”. Scratch that from your vocabulary. These kids are extraordinary.
My biggest wish for people who meet Emmy is for them to know that it’s okay to look at her. Don’t turn your head or rush your kid away because you are embarrassed of them staring. She looks different and it’s highly unlikely that she will ever not look different. Introduce yourself and your child. Ask questions. Meet Emmy. See her.
When she’s older, ask her to play.
MTEAM: What key changes would make this a more inclusive world for children with Pfeiffer Syndrome?
AS: Our kids have varying mobility issues that would obviously be helped with accessibility, but the biggest thing is being inclusive. A lot of our kids look different but are cognitively very typical. Include them and teach your kids that they are just kids who want to do the same things as they do.
MTEAM: Emmy has a very active and supportive following on social media. How has this been important throughout her journey? How can other parents with children who have disabilities leverage social media to advocate for their kids the same way you’ve been able to for Emmy?
AS: Man, #TeamEmmy is a force. When we have a surgery or issue come up, we have an army behind us sending her prayers, positive energy, good thoughts, whatever. When she has a milestone met, she has thousands of cheerleaders. Both of those things are so powerful.
The other thing that is so important is just education— teaching the world about Emmy will hopefully lead to her being included more in the world.
MTEAM: What’s one thing you’d like the world to know about Emmy or about Pfeiffer Syndrome?
AS: Emmy is pretty great. She’s not a typical baby but she’s really amazing. Her smile lights up a room and her.