June Update

I took Darein to St. Louis to see her orthopedic doctor about her scoliosis. She is doing well, her curve hasn't got better but hasn't got worse either in the past 2 months. He will see her back in 4 months. He typically would only do an xray once a year but because we made some adjustments to the brace he says that he might make an exception and do an xray the next time he sees her. We go back in October and will evaluate things at that time. Her top curve cannot be braced as it is too high up but he does not anticipate it getting any worse which is good news. Her thoracic curve is still at 32 degrees. If it gets into the 40s or 50s then we will have to consider surgery but as of now, things look good.
While we were in St. Louis, we went to drop her 24 hr. urine specimen off at her geneticists office and they also drew blood and then were going to send all of it off to the United Kingdom for research. Darein is the oldest of 50 children with Antley-Bixler syndrome living and therefore they are recording her progress through puberty so that they can offer more information to other parents who have children with this extremely rare syndrome. We have no prognosis of what to expect as Darein gets older and her case is also the mildest of this syndrome so we are hoping to at least give other parents some hope and prognosis of what they can expect with their children with this rare disease.
Darein also so her ENT doctor this month and got a good report. We were concerned that her hearing had decreased but after a hearing test and an examination of her ear we were told that her malleus bone prosthesis is in place and her hearing is the same. We did however find out that she will need to wear her hearing aids for the rest of her life. Her conductive hearing loss will never get better and because her hearing loss is congenital it is too dangerous to replace the cochlear bone in her ear and therefore hearing aids will be a part of her life from here on out.
We went to see her gastroenterologist this month as well and found that her anatomy of her stomach is normal. She is most likely just suffering from anxiety and stress at school which is causing her stomachaches. We are also supposed to keep her cleaned out with Miralax and Benefiber as this may be causing her some issues as well. Her gastroesophageal reflux disease is being well maintained with her Omeprazole and as long as this is helpful then we do not have to worry about surgery at this time for this disease. We will work with her during school on her bowel issues and if she is still having problems then we will need to talk to her pediatrician about what to do with her anxiety and stress issues. Since she takes cortisol for her congenital virilizing adrenal hyperplasia we will most likely talk to her endocrinologist about the stress issues as well when she sees him next month. She gets stress doses of this medication when she is sick and her body is under stress as her body does not produce enough of this hormone but not sure how mental stress works with this disease so we will get more information on this as we see her endocrinologist next month.
In the meantime, we are getting Damein ready for college. We have come along ways over the summer and are almost prepared. We attend Summer Welcome session at the University of Missouri Thursday and Friday. He will get signed up for his classes, stay a few extra days and attend Fraternity Formal Recruitment and make sure that we are ready for move in day :) As sad as it will be for mom, I am very happy for him as I know he is excited to start this new journey of his life. He has had an adjustment period this year, being with family and still wanting to hang out with his friends that he will miss once school starts. We are trying to give him the space he needs and yet trying to push him towards being prepared for his next stage in life.
Change is rough but a necessary part of life so for now we are just trying to make the most of it :) Hope everyone is having a great summer!!!