The Horror and Relief of the Initial Pathology Report
First of all I want to thank those of you who have been praying and have contacted us by phone or e-mail. I ask that you keep praying, because we are at the start of a very stressful journey. Tristan’s pathology report came back today, and they were able to identify the hard spots in his skin. Tristan has a very rare skin disorder called “Osteoma Cutis” (OC), which literally means “Bone in the Skin.” So, all the hard spots are not dry, bumpy skin, but bone forming in the deep layers of the dermis.
OC is one manifestation of an associated genetic metabolic disorder. Usually, individuals with this disorder have very round faces and the fourth and fifth finger on each hand is shortened, and can affect thumb length. Tristan does not have these traits now. At birth, however, Tristan had two small hard nodules on the back of his head that most physicians thought where calcium deposits. We feel this could be an early manifestation of this disorder, but of course we did not realize this at the time.
As it stands now, Tristan has over 50 lesions, with most slowed or stopped erupting for now. Six of nine spots that cover his body range from the size of a small pea to that of a quarter. They do seem to cause him pain, or at least discomfort if touched or squeezed. They do not seem to go away or get bigger after a certain point, but more appear sporadically. His newest one appeared near his right ear, which makes me feel even more in a race to save his precious face.
Today, a full endocrinology panel was taken, and we should hear back on the results by the end of the week. Our pediatrician got us a referral to University of North Carolina’s Pediatric Endocrinology department. Unfortunately, the earliest they could fit us in is August 20th. This will not do, but until we have the blood results in hand I will not call them three or four times a day to bug the heck out of them to move up the appointment. There must be a cancellation at some point in time. The resident told us she and the attending physician were very glad we came in when we did. This is a disorder that can disfigure, cause short stature, and involve mental retardation. I can not tell you what methods of treatment are out there at this time due to the fact we are waiting to see what his blood results tell us.
Along with seeing an endocrinologist, the top dermatologists from Duke University and University of North Carolina also asked to personally see Tristan to do a consultation. I figure because this is rare, they want to do a case study. I am happy about it because I want anything to help cure or manage this horrible skin disorder.
This is all I know as of now and I feel much relief now to know what I am fighting. Michael and I are doing fine, but tired from lack of sleepless nights and endless worry. We love all of you and thank you again for your love in support even before Tristan was in the world.