The Second Protector and Genetic Testing
August 1, 2007 – Well, we are back from Washington, D.C. tired, but hopeful. Tristan was seen by several physicians who seemed to know less about the disorders related to osteoma cutis and the associated disorders than we did about the disorder. This is, however, why we will have him looked at by as many doctors as possible so they can be come more familiar with rare disorders like these. They did confirm the pathology report to be accurate. Tristan’s blood was taken as well, and part of it will be sent to a laboratory in Oklahoma for genetic testing. The endocrinologist believes we should have the results back in about two to three weeks. So, now we wait. We will give them some credit given they were not the specialists yet we thought we were going to see. Apparently, those folks at the National Institutes of Health (NIH) were not available at that time. LTC Bauer gave us a referral to Dr. Fred Kaplan who works at the Children’s Hospital of Philadelphia (CHoP), who is one of the few who conducts active research on bone diseases related to osteoma cutis, and more progressive bone invasion. Because it is for his research, the cost for the visit will be free other than making the trip up to Philadelphia.
Overall, we accomplished what we went up to do. Tristan still has the August 20 appointment here in North Carolina to which we hope to have some results already on the baseline blood values, so perhaps we can discuss the results of this test and methods to manage and treat his condition.
Of course, we ask you to pray the Lord would take this disorder completely away from Tristan, but if this does not happen we pray Tristan does not have to live a life in pain or extremely mentally challenged. We can work with wheelchairs and other such necessities, but we pray he can have some kind of quality to life. Thanks again for your support and prayers. The prayers are working, and now I will keep praying we get something back from the genetic test to enable us to proceed with the care for out little ray of sunshine.
September 3, 2007 - Last Wednesday Tristan’s genetic results came back, and indicate he does have a gene defect in the expected GNAS gene. Michael had already spend time to read more journal papers, and has now requested the actual results from the lab that will show him exactly where the mutation is located in the nucleic acid sequence. The defect is only found on one side of his chromosome, and so it is only from one parent, nearly always the mother, or it could be a spontaneous mutation that occurred during early development. This mutation causes the protein encoded by the GNAS gene to be cut short or have altered function. Likely, this protein is non-functional, and is rapidly degraded by the cells that produce it. He is producing some of the normal protein from the correct gene on the other side, so that is good. Yes, Michael comes to the rescue once again, because that probably his genetic material! We do not know the extent of this production, and given his outward expression of signs like osteoma cutis, production could be affected. Further investigation is needed.
To be blunt Michael spearheads this effort as his knowledge extends beyond that of the physicians currently working with Tristan simply due to the rarity of the condition, and the shear focus of Michael’s scientific abilities on his son. He is like a mad scientist as he tries to discover every little detail about Tristan’s exact condition. If there is a way to treat it through genetic therapy or manipulation of genes, proteins and the like, he is determined to find it. He is in contact with various experts in the scientific community around the United States, and I am so thankful he has the ability and the knowledge to do more than what is normally obtainable. Tristan and I are blessed to have such assets at our disposal.
Also, at the end of this month I am going to get my blood drawn at Fort Bragg at Womack Army Medical Center (WAMC), and have the same genetic test done to see if I am a carrier for the genetic defect. I am hypothyroid, which could be my expression of the disease. Tristan is also hypothyroid, but also has the osteoma cutis as well. The condition tends to get worse with generations. Michael will wait to get his blood drawn, because there is a soldier whose son had a genetic disorder, and even though the soldier showed no signs of the disease, the Army kicked him out simply as a carrier. We cannot afford for Michael to get kicked out over some ignorant Army medical evaluation board. Tomorrow Tristan gets his blood drawn again to check his thyroid levels, and to make sure his Synthroid medication dosage is correct. LTC Bauer also ordered radiographs of both hands for a baseline and also to determine if any abnormalities exist in structure.