Pfeiffer Syndrome: A Rare Genetic Syndrome To Learn About
Born with Pfieffer Syndrome, an extremely rare genetic disorder, Emmy is all about love and laughs.
Amanda Schuster's second child, a girl, was born with Pfeiffer Syndrome. This is a rare genetic condition that causes Emmy to look very different from other kids. Emmy will need corrective surgeries throughout her childhood.
“Even though we had prepared ourselves as best as we could, it was still a shock to see Emmy in the flesh,” says Amanda. “Her eyes were huge, her skull was misshapen,” she says in a Facebook post aimed at sharing her daughter's story with the world.
The first four months of Emmy’s life was in the hospital. Amanda says it was a long, stressful and scary period for her and her husband, Emmy’s dad. “We discussed DNR (Do No Resuscitate in order to allow natural death) paperwork. We celebrated, cried, fought and pleaded,” describes Amanda.
Now Emmy lives at home. Like all babies, she is growing and discovering things but at a much slower pace than kids her age.
Amanda hopes that by describe her experience and by showing pictures, she will show her daughter how loved she truly is. It is also to empower Emmy to be everything she wants to be when she grows up.
“Emmy will always look different and that she will face cowards and bullies in her lifetime….We hope her story will pave the way for her in the future to get less stares and more ‘Let’s play’," says Amanda.
About Pfeiffer Syndrome
Pfeiffer Syndrome is an extremely rare genetic mutation that affects approximately 1 in 100,000 births. It occurs spontaneously. In other words, it is not caused by the parents or their genes.
Doctors grade Pfeiffer Syndrome in terms of severity. Type 1 is the least severe while Type 3 is the most severe. Emmy, however, has an extremely rare and severe mutation which Amanda says differs from the rest.
There have only been approximately 25 reported cases of the type of specific mutation that Emmy has. “Our geneticist believes that our mutation is very different. Kids with it share so many specific traits that it should have its own name,” says Amanda.
The late musician Prince and his ex-wife, Mayte Garcia, also have a child with this genetic condition. Back in 1996, Amiir was diagnosed with Peiffer Syndrome Type 2 when he was born. Like Emmy, his skull was severely deformed. Amiir lived just seven days before succumbing to breathing difficulties.
This genetic mutation generally causes bones in the skull to fuse prematurely. A distorted skull causes the child's eyes to bulge and compresses facial features. Fingers, hands and legs may also be affected.
Emmy, for example, has had and will need multiple surgeries to reshape her skull. This is to make shape for her brains to grow. “When she is somewhere between 5 and 10, she will have a procedure to pull the bones around her eyes, nose, and upper jaw forward. This is to allow more room for air. It will also create more coverage for her eyes,” says Amanda.
What to do if you have a child with this illness
- Doctors may be able to diagnose Pfeiffer Syndrome while your child is still in the womb. However if the symptoms are mild, the diagnose will only be made after delivery or even after a few years.
- Pfeiffer Syndrome can be treated. Doctorswill usually recommend surgery in several stages to reshape your child’s skull and release pressure on their brain.
- Once your child has healed from these surgeries, your doctor may also suggest long-term surgery. This is to correct the jaw, face and other parts of the body, if needed. This is to enable your child can breathe and move well.
- Early treatment can help your child live to be an adult. Complications involving their cognitive function and mobility can be addressed with physical and mental rehabilitation and therapy.