Genetics Eval. Now or Later?

[ericaj]

Ok Guys, I really need some advice here. Can get in to see a Genetics specialist on MOnday the 20th of this month but she is about 2-3 hours the opposite way that my specialists are and I don't know what I should do. Am waiting to hear back from my Drs. but need your advice too, on what you would do. Should I go with this new Dr. and drive or should I wait and wait until Jan when I can get in to the other Geneticist who is right on site with my other Drs?

Thanks for any thoughts!!

Erica

 

[Marguerite53]

just a thought

just a thought

Erica. Hm. Well, if it were me, I'd be antsy for some answers. That being the case, why would I want to wade through the holidays with lurking questions. Doctors all have fax machines and you've signed every HIBA form known to man (probably) so all info gleaned at either office can be shared. If you do drive the 3 hours and really like this geneticist, then you'll be stuck driving over and over again. However, if you're impartial about her, you can use her to get some answers, mull it over, and then switch to your local person when he/she is available. Insurance wise, I've no idea what you're getting into there, but peace of mind wise, I don't know why you would want to wait, really. In the long run, if you do not like your local person, at least you'll know whether this out of town person is worth the trip. You've already met your deductible for this year, no doubt, so it shouldn't be too spendy, should it?

Hope this helps. Best of luck. Truly.

Best wishes,

Marguerite

 

[ericaj]

Marguerite

Marguerite

Hi Marguerite,

Thank you for your thoughts!! Your thoguhts are very much appreciated and I of course side with you. But I think what I am going to do is ask them if I can see the Genetic Dr. the Monday right after X-Mas if they will be in the office or one of those days that week. I had asked my Pulm. if I I could come in and talk to her on Monday, just to talk (she is a very sweet lady) and I think this would be a good chance to get copies of my medical records and really sit down and talk to her about what she thinks as far as going outside the network of my physicians as I know she will give me an honest answer and will give me her best and honest opinion on what to do. Have a bunch of things to do now tomorrow, including squaring things away for these appts. and with my Ins. making sure it is okay to go outside of my area of providers. I know this Genetics Dr. is covered under my Insurance and I don't have a amount that I have to hit each year before having everything totally covered.

I will definetly keep you and all of VR posted each day as I come across new info and further dates for these appts. Also will have ot go back and see my Pulm in a couple weeks to get the results of the Sleep Study.

Thank you again for your kind words.

Erica

 

[gijanet]

Erica.........

Erica.........

I would have to ask what you are expecting to learn from the study? Is it for immediate answers (ie, a syndrome, or something), or is it for childbearing later? If it is not for immediate (as in right now, but they really aren't right now, especially with the holidays, but you would get them sooner) answers, I think I would be tempted to wait and see the geneticist where your doctors are colocated.

We participated in a genetic study on heterotaxy kids being conducted by Baylor in HOuston. WE never have gotten our individual results (we actually have to go to Houston and meet with one of their geneticists to do that), although I am interested in getting those at some point. Katie will never be "allowed" to have children, of course, because of the stress on her already overstressed heart, but I would be interested in knowing what they discovered (ie., if her defects are hereditary or just a fluke of nature). And who knows, twenty years down the road, medical science may find some miracle to allow her to have kids.

Anyway, just my two cents and I will certainly be interested in learning what you find out................whenever that is. Hugs.

 

[ericaj]

Janet...

Janet...

Hi Janet,

The Genetics eval. is to try and tie together all of ym symptoms and problems
including but not limited to the valve/arrythmia heart problems, the restrictive
lung disease/chest wall structure abnormaility and narrowed trachea. As well as some joint stiffness and nerve problems. There are several possibilities of syndromes that they are looking at to try abd treat this all accordingly. Some of the problems are newer and some have been there already in the past so my Drs. believe it is important to try and find hte entire picture and go from there.

I am going to go in and talk to my Lung Dr. on monday and if she agrees will go ahead and see the Geneticists at the end of this month - the monday right after Christmas.

Hugs to you and Katie as well,

Erica

 

[Harpoon]

If your doctors believe they can treat you more effectively by knowing what (if any) genetic syndrome or disposition may have caused your ACHD then by all means, get the appointments set up and make it a day trip or whatever.


However, if your goal is more to find out if there's a risk of passing on the same syndrom (or something similar) to a potential child, I'd wait until such time as I was hoping to have a child.


For the record, I've been through this. It's likely that my condition (TGV) and a number of secondary defects in my uppor torso developement are all related to one genetic root or another and the question is whether that's an anomaly or something that I could pass on if my wife and I decide to have another child (my 4 y/o son is not biologically mine.)


I haven't been experiencing any heart related problems in well over a year really now since having my tricuspid valve replaced so it's doubtful that knowing what syndrome I have would improve my current medical treatment which is essentially just bi-annual observation...

 

[Abbanabba]

Hi Erica, this is going to sound overly simplistic, but whenever I'm struggling with a decision I flip a coin. One side is one course of action, the other side is the other.....

Now I don't necessarily go with whatever the coin flips over, but I use it to guage my gut reaction - you'll either be happy or disappointed with whatever flips up and THAT is what I base my decision on.

Again, it might be simple, but it often works for me.

Cheers and good-luck with whatever you decide,
Anna : )

 

[ericaj]

Harpoon

Harpoon

Harpoon,

My Doctor's and I are doing the Genetics eval. to try and find a syndrome that they think is present (MPS) or something else to link together my many different problems - so as to treat everything and to prevent further health issues. They do believe they will be able to treat me more effectively by getting these answers - it is definetly a evaluation to treat things better now and not focused on if I should have something will it be hereditary.

The problem of children later on is there, but not the immediate focus or reason for Genetics eval now. There are the usual old problems and some problems that I had surgically "fixed" (CTS) and then some newer findings and changes. Including Restrictive Lung Disease, possible sleep apnea and the changing heart stuff.

Erica

 

[ericaj]

Harpoon and Anna

Harpoon and Anna

Thanks Anna! A Good I dea!!

Harpoon - I am now seeing my ACHD Cardiologist (who told me he suspected MPS every 3 months with Echos' every 6 months) Electrophysiologist every 2 months approx.

Erica

 

[Harpoon]

erica: OK. When genetics testing was first suggested to me I asked if it would make a difference in my treatment and they said probably not, though it might be more useful later in life (50+ maybe???)

The only reason I had to do it was academic and to see if there was a risk I could pass it (or something similar) off to a child.


Anna: I do coin tosses too. That or stand there like an idiot for 20 minutes or more debating it out in my head while people walk past, staring at me....

 

[Abbanabba]

I tell ya.... that ol' coin trick really does tell you very quickly which way your subconcious is leaning! If I'm truly undecided then I'll go with the coin, but otherwise, the gut feeling certainly comes to the fore.

A : )

 

[Marguerite53]

what a coincidence!

what a coincidence!

Anna! I do that coin thing all the time for my most difficult decisions!! It is so true. If you are focused when you make the toss, your gut comes through immediately for you and the decision is made!!

Sorry, Erica. I had to hijack your thread here, because after I read Anna's coin toss trick, I noticed Anna's recommendation for the cure for a new member's hiccups! It is exactly what I do as well!! (a spoonful of vinegar -- but mine, with some sugar!) Funny coincidences around the globe!!

Erica. I recently had a cardio appointment which had been set for after a stress test. I cancelled the stress test (long story) but insisted that I keep the appointment because I really needed to talk. I went in with typed questions, got them all addressed comfortably and in an organized fashion, and left feeling great! (of course my news was good, too, so that helped!) (I'll be posting all that on a new thread when I get a minute!).

She had me dress down, listened me over (I think many doctors are very aware of insurance details so she wanted to be sure things got billed in my favor -- as if she had called for a check-up or something). So, please think about being very organized for the "talk". As many others have said, it goes so much more smoothly.

Good luck. Let us know!

Marguerite