The Start of the Road

This is the start of Shae's journey as she learns what her new reality will be like as she learns to live with Polyostotic Fibrous Dysplasia. The intent of this blog is so we can document the process as well as allow family and friends to keep up-to-date on her progress without having to make 20-30 phone calls on a regular basis.

About 4 weeks ago, Julie took all three children to the dentist for their regular check-up. The dentist called Julie into the examining room where Shae-Lyn was seated. He explained that he found something unusual in her cheek and asked to perform an x-ray. The x-ray revealed that Shae had a fairly large tumor-like mass in her left sinus area. The next 3 weeks were a barrage of doctors appointments, testing, phone calls and worrying. This past Monday, March 14th, we met with Dr. Leitao, the Ear,Nose, Throat specialist at the Children's Hospital in Winnipeg and got a confirmed diagnosis. Shae-Lyn has a very rare bone disease called Polyostotic Fibrous Dysplasia. It's a genetic disorder that affects less than 1:100,000 kids. Some researchers believe the incidence rate is between 1:100,000 to 1:1,000,000. Essentially what happens is the bone cells mutate and start forming a fibrous tumor-like mass on the affected bone. Currently, she has it in 3 bones in her face - the lower jaw, the main cheekbone, and the bone that forms part of her eye socket. The doctor showed the CT scan to Julie and I so we may understand what we were facing. There was a very significant difference in bone size and composition between the two sides of her face. Technically, Shae is currently diagnosed with Craniofacial PFD as it has been confirmed only in her skull. PFD has no cure and currently the only two types of treatment are surgical (to shave the bone masses to return them to their original shape) and a hormonal drug treatment that reduces the speed of the bone growth. The primary concern with PFD in the face and skull is that the masses can press on the optic nerve (causing loss of sight), on the ear canals (causing loss of hearing), and pinching nerves (causing pain). Surgery is usually required to treat any of those complications. Currently, the bone that is of most concern with Shae-Lyn is the one that forms part of the eye socket because of its proximity to her optic nerve. Over the next few weeks, Shae will undergo additional testing to determine if she has the disease in any other bones in her body, and to check for other common complications and accompanying disorders (usually endocrine issues are associated with the disease).

We have begun the process of building a medical team to help Shae - members of the team will include the ENT, a pediactric endocrinologist, a geneticist, her dentist, her eye doctor and possibly a neuro-ophthalmologist, and if necessary, a neurosurgeon and plastic surgeon.

The Next Step -  Shae's next appointment is on March 28th with the ENT. He is expected to provide us with the full details of his treatment plan and our options. We will also be requesting the full body CT Scan or X-ray in order to rule out the presence of PFD in the rest of her body.


Take care,


Darcy