Diagnosis??
Jan. 14th, 2003   1:17pm
My son was born 12 weeks premature at which time he failed the state screen for CAH.  The neo said this is very common, and in fact approx 2/3 of premies test false positive for this.  After 3 more positive results, an endo was consulted who diagnosed him with "transient CAH" that would likely go away when his body kicked in as he was still 7 weeks premature when hydrocortisone treatment began.  My wife and I both had genetic testing done which showed we both carry a mutation.  Seeing the genetic results, the endo changed the diagnosis to SV CAH.  Blood was taken (my son still being 10 days before his due date) and results showed 17 ohp - 48 ng/dl, andro 31 ng/dl, and renin 8.4 ng/ml/h.  From what I have read, he is extremely oversuppressed, especially for a newborn baby whose levels tend to be higher than toddlers.  I also question whether he has CAH or not (maybe wishful thinking), but even if he does have it I am worried we are way over-medicating him.  The endo saw the results and said to continue with the hydrocortisone as before and we will do more tests in March.  I am very concerned and feel I should cut back his meds, but do not want to go against the endo’s advice.  Please let me know if there is someone I could talk to about this.  Keep in mind my son’s original due date is tomorrow, meaning all blood work to date would have been from a "premature baby" reference range.
Jim
Rare Disease Search Engine, Homeschool Sites, Online Homeschool, Online Income, Ethical Adsense, Creative writing, Family Web Hosting, Christian Radio, Tulsa Parks