Well, it’s official.

Our little Zachary has PseudoHypoAldosteronism (PHA), at least according to Dr. Karaviti at Texas Children’s hospital.  We had some blood work done on Feb. 13th.  The results of that test and some previous testing are as follows:

ACTH stimulation test: negative for CAH

aldosterone: 397 ng/dl (normal is 16 ng/dl for supine position, 30-40 for upright position - although why it makes a difference whether you’re lying down or standing up makes no sense to me)

direct renin: 56 miu/ml

ACTH: 46 (7-28 is normal for a child though they claim this number is not "significantly clinically abnormal" whatever the heck that means)

They took some more blood today to confirm the high aldosterone.  At first I thought that was only the signature from the florinef that we’re giving him daily (0.05 mg per day), but they tell me that even that dosage should not increase the aldosterone level by a factor of ten.  If the blood work comes back with high aldosterone then they will tell us to stop giving him the florinef.  Until then we will continue giving him the florinef and the extra salt.

So assuming this diagnosis sticks Zack’s only treatment will be the extra salt in the formula (1.25 teaspoons per 32 fluid ounces).  It seems kind of strange.  I suppose we have to worry about his salt dosage once he starts eating solid foods.  I asked Dr. Karaviti what we need to do in case of vomiting or diarrhea.  Should we still inject him with the hydrocortisone?  The answer is no, it will do him no good.  We will still need to take him to the ER to get a saline IV.  So vomiting and diarrhea are still life-threatening events, but not fever.  At last, a doctor who makes sense.  I probably need to make up a custom message for Zack’s medic alert bracelet: GIVE ME A SALINE IV BUT NO STEROIDS PLEASE!

We are going to have a renal ultrasound done on Zack’s kidneys just to make sure that there isn’t any structural problem.  I don’t expect any since he has no trouble at all in the urinary department.

Apparently, Dr. New of Cornell is not the genetics expert in this area.  They drew blood from both us parents and shipped it along with blood from the baby to the Dept. of Genetics at Yale University.  I forget what the doctor’s name is there.  So they’re going to analyze the blood and figure out which parent gave Zack the defective gene or whether it was a mutation.  The best part is, since it is research, we don’t have to pay a dime.  We also don’t have to travel there.  The results will be relayed back to Texas Children’s Hospital.  So I’m quite pleased with that.

According to the information that I’ve read on the Internet PHA is the type of disease that a child can outgrow in 2 to 3 years.  They aren’t sure of exactly what type he has (type 1 or 2) but Dr. Karaviti thinks it’s type 1 which is the less severe form.  He should be O.K. with just some extra salt.  Hopefully, Zachary will be one of those kids that simply outgrows the disease in a couple of years.  Then, we will have really won the lottery!