Tom,

I’ll pass the email on to her. She uses her sister’s computer to do research and email stuff. I usually use snail mail or phone to talk with her. Dr. New is her daughters doctor. She takes her there for her checkups. I do remember that when she left the hospital, Dr. New told her she had to bring her daughter in once every two weeks for blood work but Nicolette was panicky and took her once a week to make sure her sodium and potassium were ok. I do know that she got DNA testing done on her daughter and on her husband and herself but as of Sept of last year they did not have any results. She was frustrated because I had already gotten the results from my DNA, my husbands and my son’s. I guess though the DNA is sent elsewhere and it is hard to find what they are looking for with PHA.  I don’t know why they diagnosed her daughter with PHA instead of HA though.

In her searching she found one older female patient who I believe lives in a different state. She has tried contacting the doctor of this patient also to see if she can get some information but nothing yet. She does know that this older PHA female is going to medical school and doing quite well. She is very desperate to try to talk to her because she wants to know what to expect for her daughter. What she did tell me is that they tell her that as her daughter gets older, she could outgrow it. Now, I don’t know if this is correct or not but she seemed to be very hopeful that this would be the case. I would think that just as some CAH’ers salt wasting improves with age, probably becuase of the diet (lots of sodium in our  foods), PHA patients might also have this same thing happen.

I would say that maybe you should request Dr. Karaviti since I do know that she has a PHA patient.  Since your son’s case is kind of strange, I would also suggest that you call Dr. New’s office or talk to Ann Carlson and see.  The most expensive part of my trip to NY was the hotel at $175 a night but the airfare was a bargain at $143. I didn’t buy a ticket for Jackson because I figuered the flight would not be full on Sept.10th and I was right. I just carried his carseat onboard and sat him in it, next to me!  You can also contact CARES becuase they may have some resources available to assist you with the trip.

It’s not that I don’t trust TX Childrens because I do take my son there but in the beginning it took a while to convince them that my son was not SW CAH.  I didn’t like the fact that they placed a one type fits all when it didn’t! Now, I run his results with Dr. New’s office through the fellow and I feel comfortable that I have two opinions. Two heads are better than one!

I do hope that you don’t stay in limbo too long.. I agree with Carol, limbo sucks!!!

Good luck and let me know if I can be of any more help.