Pfeiffer Syndrome as I know it…

By now you might have googled Pfeiffer Syndrome to learn that every one of 100,000 kids are born with this genetic disorder in the world. Pfeiffer Syndrome has many structural abnormalities that lead to other long term issues. In my efforts to bring awareness to Pfeiffer Syndrome I will share facts through the most common questions I receive.

The big question, is there a cure?

Like most rare diseases, there is no cure. The only way to treat PS is through various surgeries to make life more comfortable. PS kids undergo multiple surgeries from their adolescents through early adulthood. What causes most of Caliyah's complications is the fusion of various bones. She has fused bones in her skull and elbows that have created a narrow upper airway, small orbits, and limited mobility.

Below are the top surgeries most Pfeiffer kids have in their first two years of life just to simply thrive.

1.  Craniosynostosis-  is a congenital disability in which the bones in a baby's skull join together too early. This happens before the baby's brain is fully formed. As the baby's brain grows, the head can become more misshapen. The spaces between a typical baby's skull bones are filled with flexible material and called sutures.

Due to this defect, she will need two critical skull surgeries in her first year of life to make space for her brain. One is to remove bone from the skull, which regenerates on its own, the second uses rods to open up the skull. A healthy brain needs room to grow, if the skull restricts that growth it will put pressure on the brain and cause extra fluid and long term damage.

• Posterior cranial vault distraction to give the brain room to grow and places small rods in the skull that slowly open up the skull.

• Craniectomy is a surgery that removes a strip of bone/fused suture in a skull to release pressure on the brain. This surgery has a zigzag incision from ear to ear. Caliyah received this surgery at 6 weeks of age.

2. Eye proptosis - due to early fusion in the skull, the eye orbits are very shallow and cause the eyes to sit forward. Due to the fusion, many have no eye protection. The below surgeries help protect the eyes the first is a temporary fix that focuses on the eyelids, and the last brings the forward the forhead for a permanent solution.

• Tarsorrhaphy is a surgical procedure in which the eyelids are partially sewn together to narrow the eyelid opening. The procedure is done as a temporary fix, usually done in the first year of life.

• Monobloc front facial advancement is to reposition the forehead and midface and bring it forward. This happens as early as two years old and is a longterm fix. They remove bone and place a halo distractor to pull the face forward slowly.

3. Obstructed upper airway & abnormal trachea sleeve.

• A tracheostomy is a medical procedure — either temporary or permanent — that involves creating an opening in the neck to place a tube into a person's windpipe. The tube is inserted through a cut in the neck below the vocal cords. This allows air to enter the lungs. Due to a fused skull, having a narrow nasal and oral cavity is very common. This creates a blockage in the airway, and at times PS kids have tracheal sleeves rather than rings. A trach can come out for some kids when they have monobloc, mentioned above, and some kids keep it long term.