Mapping Out the Next Steps

Shae went for her follow-up appointment today with the ENT (Ear, Nose, Throat) specialist, Dr. Leitao. He had a chance to met Shae and get to know her a little. We discussed her situation and what the next steps should be. One of the topics we discussed was when surgery should be considered. Dr. Leitao said that cosmetic surgery wouldn't normally be considered until Shae was at least 14-15 years old so that most adolescent changes would be complete. Here is a list of the next steps that the Dr. does want completed immediately:

1. Dr. Leitao has ordered a skeletal survey in order to determine if there are any other bones that have FD. The sketal survey will be done by doing an X-ray of every bone in her body.
2. He will also be referring Shae-Lyn to an pediatric endocrinologist. The endocrinologist will test Shae-Lyn for a variety of endocrine issues. The most important one for patients with craniofacial FD is to check for excess Growth Hormone. Excess Growth Hormone can make craniofacial FD worse.
3. The ENT is also going to be referring Shae-Lyn to a Geneticist. Since the disease itself is genetic, the geneticist will not only be able to confirm the diagnosis but also can check for other genetic issues.
4. The last referral for now will be to an Opthamologist. The opthamologist will be able to check the bone that forms part of the eye socket to assess its potential impact on the optic nerve.
5. The last and final test for now will be a hearing test just to ensure that the growth has not impacted any of her hearing yet.

The ENT has allowed 3 months for us to get through all of these referrals and tests. Shae is booked for a follow-up appointment with Dr. Leitao in 3 months time. At that point, we should have all of the diagnostic testing complete and have a full picture of what we are dealing with. Hopefully, we will get the testing and referrals completed quickly. Shae cried tonight.

We will provide more updates as we book and complete tests and meet with doctors.

Take Care,

Darcy