This article was originally written a year ago. We are republishing it today in Prince’s memory.
I’m sure you’ve seen countless tributes to Prince in honor of his legacy. People around the country and around the globe are expressing their grief over his death and their appreciation of his life. His ex-wife Mayte, professed her continued love for him and said that he’ll now be with their son.
Did you know Prince’s son Boy Gregory, was a rare disease baby? Tragically he passed away just seven days after his birth after being diagnosed with Pfeiffer syndrome. Pfeiffer syndrome is a rare genetic disorder with characteristic premature fusing of skull. This alters the children’s facial features and head shape, and half of those diagnosed will experience hearing problems. The syndrome also affects the skeleton elsewhere and can result in severe disability depending on the type.
Pfeiffer syndrome is categorized into 3 types. Children who are diagnosed with type 1 will often not be effected intellectually by the syndrome nor have their lifespan shortened.
During Rare Disease week this year, I had the privilege of meeting Carolina, whose little girl Mariana, is living with Pfeiffer syndrome and suffered from hydrocephalus. Mariana continually astounds her parents with her reading level and memorization skills. Her mother wouldn’t trade her for the world and though it pains her to leave her daughter even for a brief time, she traveled across the country to advocate for further research of the syndrome.
She says, “Mariana has Pfeiffer Syndrome which is very rare and she had the more uncommon mutation within Pfeiffer Syndrome. This was a surprise and a new set of problems. Thankfully she has Type 1 and a very, very mild Type 1. Ever since Mariana was born, her life has been a series of challenges and fights. What can I say? It has been quite a journey. But, first I want to say that I am so grateful and feel so honored that I get to be her mother. She is a sweet little angel. Because my husband and I love her so much, it has been an emotional journey to watch her suffer.” Carolina hopes for the awareness and education of Pfeiffer syndrome to increase. She knows the shunt keeping her daughter alive could fail at any moment.
The other two types of Pfeiffer syndrome(Type 2 and Type 3) are more serious. The fusing of the skull can keep the brain from growing the way it should, resulting in neurological problems.
As we remember a legend who is leaving a lasting mark on music, let’s also bring lasting awareness to a genetic condition in serious need of new research, in honor of his son and others like him.
Check back for more about Carolina and Mariana next month!