ONCE UPON A GENE - EPISODE 010 - My Pfeiffer Pfamily
Synthiea Kaldi was the first person I knew to call when I was told something was wrong with Ford. I admire her so much and would be lost without her humor and understanding. Finding someone like Synthiea, someone who lives with a lot of hard stuff but can also find the humor in it, is a really valuable resource for your mental health and general outlook. It's not easy being a parent, especially when your child has a complex medical need. Synthiea is further ahead in this unplanned detour along a dirt road with a lot of potholes and I'm constantly learning from her. It's impossible not to feel the light that radiates from her and I'm excited to share our conversation about her beautiful daughter and their experience with Pfeiffer Syndrome so far. Today we're talking about Mallory, Sythiea's little girl.
EPISODE HIGHLIGHTS
Mallory was born with a genetic disorder called Pfeiffer Syndrome, which is caused by a mutation in one of two genes- either the FGFR1 or FGFR2. These genes control bone growth in utero, signaling them when to grow and stop growing. When Mallory was born, all the sutures in her skull were fused except one. Usually you have skull plates floating around the baby's head and they fuse much later, some not even until teen years. Because Mallory's plates where fused, her brain didn't have the room it needed to grow, so it started growing places it doesn't normally grow. It pinched her ear canals completely shut, so she wears hearing aids. It also grew behind her eyes and started pushing them out, so there were quite a few surgeries she had very early in order to protect her eyes. A lot of times, kids with fusions have fused fingers and toes. With Mallory's specific type of Pfeiffer Syndrome, most have fused elbows. Mallory also has fused knees.
When Mallory was born, I remember looking across the room and her head was huge, the shape of the Planters peanut guy, one of here eyes looked like it was ready to pop out and I remember thinking she was going to die. It wasn't the best birth experience, but Mallory didn't die. She had much bigger plans. They transported her to NICU and the doctors were pretty sure of her diagnosis when she was born, but had to do the genetic testing to confirm. In the course of about two weeks that she was in the hospital, she had a bunch of surgeries. They had to go in and perform a strip craniectomy when she was only five days old, where they cut open the skull and give the brain room to grow and relieve the pressure.
We were very fortunate in that when Mallory was born, the Medical Director of Craniofacial told the hospital to arrange for us to meet another family in the area whose daughter also has Pfeiffer Syndrome. He knew her mom and I would hit it off and so he made it happen. That family is now some of our closest friends. We can laugh about things with each other because we're not afraid to and when you talk to people who aren't going through the same thing, they probably don't find it funny, but also don't think it's okay to laugh about it.
Mallory has a trach, which is a little tube that goes into the base of your throat to help you breath. She got that when she was about four months old because she wasn't breathing right and wasn't breathing well. A big part of the problem was that when that lovely big brain was growing wherever it could to protect itself, it really squished a lot of her throat and airway. If she got sick at all, it made it impossible for her to breath. We got the trach and with that came home nursing. The trach is not necessarily permanent, but we don't know at this point if or when she can get it out.
Mallory is just another kid. Yes, she looks different and she talks different and she's in a wheelchair, but at the end of the day she likes princesses just like most kids her age. She likes watching funny YouTube videos of babies and cats, playing games, reading, all the same stuff. I appreciate when parents encourage their children to say hello and if they have a question to ask. Treating us as normal as possible is the best thing you can do and teaching your kids to do that as well is the best thing you can do for your kids.
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