After Dx, How Best To Proceed And Coordinate Care For Daughter?

[gnomegarden]

On another note-- I am also looking for help on how to continue and coordinate my daughters care. We began with her Pediatrician and a Cardio at JHU... neither of which really knew what to do with the severity of her presentation, I think. Then we went to see Dr Abdallah and consequently the other docs were all too happy to "jump ship" so to speak. Now we are in the hands of a Doc in whom I have the greatest hope for the recovery of my daughters health...but he is so, so busy, and I feel a lack of clear understanding/direction here on our journey. MAybe it is just the helplessness of wanting to DO and FIX. I understand that this is an illness that is very hard to define-- I just feel so frustrated. And worried.

Doc did mention for us to see a geneticist--I gather that this who would determine any of the hypermobility issues. What about MCAD? What kind of Doc do I look into for that? And are there any other tests that I should be looking into for her? Then what about complimentary medicine and/or supplements/alternative modalities?? I feel like we need a project manager! Since that looks to be me, if there is anyone who can recommend a good conceptual map/way to set about all of this, I'd sure appreciate it!

At our last visit she had a TTT and was determined to be hyper-adrenergic. I know that this is in part decided through her BP soaring as well as her Pulse rate ( as well as her flushing and hot flashes)-- but does this not require any further tests to decide it?? WE, through a series of unbelievable antics during our stay at JHU, never were able to complete a 24 hour urine study. I know that this shows the presence of a A pheo. tumor, but does the catecholamine info also contribute info towards the Hypo Ad. dx?? I have been unclear as to whether I should follow up and press for that.. or which doc to even request it from now!

Please help if you can. I very much appreciate you all, and wish you great healthy days ahead!

Thanks, Dawn

[dakota]

Hi Dawn,

I know this is one of the issues that we struggled with. We had a pediatrician who was completely useless, a cardiologist who thought some meds would be good for my daughter but who didn't want to prescribe them, a psychiatrist for sleep meds, a surgeon for her pectus. My daughter has now started seeing Dr. Abdallah, and I think we are going to use him as our primary source of care. BUT, we did see Dr. Francomano last spring. She asked who was managing all of my daughter's care and I said it's just me. She seemed to be very willing to be that person to coordinate things. We really liked her a lot and I think she's great, but since riding in the car is not the easiest thing for my daughter, we have not been back to see her. I believe you are closer to her, and if you get in to see her, she might be a possibility to help coordinate things for you.

I know it's not easy, but it sounds like you are out there doing the best for your daughter. Best of luck to you both!

[juliegee]

Hi Dawn-

I'm responding to your PM here because I needed to come back to the forum for more info. You're in the Baltimore area, right? Dr, Francomano would be wonderful to see re. genetics and also to coordinate care. From what other members have told me, she will schedule 20-30 min. phone visits for which you pay a nominal fee to avoid repeated trips in to see her- even making things easier for you. She is very open to the MCAD connection to POTS and CTD's.

As far as a definitive DX for MCAD....that's hard to come by as the DX is new and somewhat controversial in the allergy world. Universally agreed upon diagnostic criteria is being hammered out now. It is a more accepted entity in the dysautonomia world- go figure Is your daughter on an H-1 (zyrtec) and H-2 (ranitidine)? They are both OTC and fairly benign. Her reaction to them will be very telling. If she improves- voila. Seeing a good allergist would be a starting point. S/he would need to check your daughter's serum tryptase levels. If they are normal- mastocytosis is virtually ruled out- but NOT MCAD. A 4 hour urine catch after a rough episode with flushing to check for methylhistamine and prostaglandin D-2 could confirm things.

As far as the JHU suggested urine catch to rule out a pheo....what did they recommend for following through with that? Surely a doctor there wrote an order to have the test done closer to home? Or, if JHU is close to home, where you told to come back for that one? Re. whether or not your daughter needs more testing, etc- ask Dr. Francomano. She is not only a fabulous geneticist, she is also a practicing internist & can answer & manage all of those questions for you.

Re. supplements, etc. My son takes a high potency multi-vitamin, calcium (as Dr. Rowe wants him on a strict non-dairy diet/true for anyone with dysautonomia & GI issues), culturelle (probiotics to guard against SIBO's as slow motility is a part of Mack's presentation) and B-12 (Even though he isn't deficient, his RBC's are odd shapes/sizes- common in CFS.) The specifics of your daughter's presentation will lead to supplements tailored for her.

This all takes time. I remember being so frustrated when Mack was first DXed. He had been sick for so long. i was thrilled to have a DX- but, like you, NOBODY was managing anything. It took months to get it all hammered out. Trust me, YOU ARE THE PROJECT MANAGER Getting great docs, like Clair Francomano on your team will help.

Hugs-

Julie

[bkweavers]

I really can't help you very much concerning many of your questions. My daughter has POTS and none of the other things you're describing. I can give you some advice concerning doctors and I'm a mom just like you and I understand you wanting to DO and FIX this. I've been there. It's been nearly 4 years already.

We switched doctors so many times during this that I sometimes felt that we were too protective and worried about our daughter. I can't mention names but we drove across many states to get to a doctor that was known to be a POTS specialist and one of the best. He wasn't a bad doctor but very, very busy and we felt like we were getting no where with him. It's funny, but we ended up going back to a doctor that my daughter saw only a few months after her symptoms began. He actually gave us his email address and he would respond within a day or two! I was floored when he contacted my daughter's physical therapist and pedicatrician within a week of our appt.! Thanks to him and some fabulous therapists, my daughter is much improved! I guess what I'm trying to say is that you have to know in your heart that your daughter is with the right doctor. If he/she isn't willling to help your daughter, you move on to someone who is willing to put the time and energy into her. My daughter's physical therapists knew nothing about POTS but they were very willing to learn and read articles and talk to my daughter's doctor. I thank God for them because they were caring and willing to think outside the box concerning my daughter's condition.

Like Julie said, you are her project manager and it's a big job. I pray for all the caregivers out there because it's a gut wrenching, emotionally draining job and seeing your child ill, just takes it out of a parent.

Hang in there and I hope you find the right doctor very soon. My prayers are with you,

Brenda