Finally A Diagnosis!

[k'smom]

We received the results of K's autonomic dysfunction tests today. She does have POTS. She started on Florinef over a week ago and it is helping some, but he doubled it today. I wish she wasn't sick, but I'm happy we finally know for sure.

[sue1234]

Congratulations! Please keep us posted on if the florinef helps.

Can you refresh my memory on what tests she had and what the results were, or should I look in a previous post of yours?

[skiberthoud]

Yay for a diagnosis! Just having a name can be helpful, especially emotionally. Now you have a direction to go. I hope your daughter is feeling some relief soon!

[k'smom]

Hi Sue,

You can look at my previous posts, but the procedure name is autonomic function test. That's what they called it and thats what is on the report. The first part says the cardiovagal, vasomotor sympathetic function and sympathetic sudomotor responses are normal. The second part says the head up tilt showed significant increase in heart rate with elevated systolic and diastolic blood pressure, with symptoms of light headedness. The increase in heart rate and blood pressure are an indicator for "hypertensive postural tachycardia syndrome."

I'm not sure what all that first part is about, but at least it's normal.

She might possibly EDS too. I asked the doctor and at first he said, "No, people with that are flexible and the joints pop out of place and such." As he's saying this, he picks her arm up and without knowing, popped her shoulder out of place. Imagine the surprised look on his face. After that he preceded to tell us how odd it was that her thumbs could easily bend to her forearms or even across her hand so that the tips stick out over the far side of her palm. So anyway, we have to talk with a different dr about that. The neuro said that her skin isn't stretchy like someone's with EDS. So, I don't know, we'll see.

Thank you tablet,

It does feel great emotionally. I know that almost has to sound twisted, but we've been searching for answers for over a year now and it's an enormous relief to be able to put a name on it and be able to learn more about it.

Hope ya'll have a great day, Kim.

[sugartwin]

It sounds like those doctors aren't even aware of the association between POTS and EDS. Please take her to a geneticist with a specialization in connective tissue disorders-other types of doctors lack the knowledge to diagnose it. You don't have to have stretchy skin to have EDS.

[Sarah4444]

Just to add to what sugartwin said, even some geneticists have difficulty diagnosing connective tissue disorders. EDS is one of 200 that have been identified so far. If you haven't already, look at www.ednf.org, the EDS website to see if she fits, and if you think she does don't let them talk you out of your gut feeling unless you are talking to a geneticist who is a connective tissue disorder specialist.

Nothing about this is simple, unfortunately.

[k'smom]

Thanks to both of you. I did go to the EDS website and read the pdf file entitled, "you think you have eds". It was extremely informative. I think I'm going to print it out and bring it to her next visit with the internal med dr. He seems to be very educated on dysautonomias. The neuro that Kay sees doesn't seem to understand all that much about it. The dr that he works with is the one that actually does the testing but we never get to see him. He only came into the room twice while she had her tests done and that is the only time we have seen him. Matter of fact, the neuro that sees her on a regular basis told her that her condition would not get any worse it would just be basically adjusting her lifestyle. She asked how he could say that because it has gotten worse over the last year. He didn't have an answer. I'm not putting down on this doctor, he seems to be good with seizure disorders and such, but I just have the feeling we should move forward from here with someone more knowledgeable on her problems.

The internal med dr has suggested that we make an appt with a specialty clinic. We talked about Vanderbilt, but do not yet know if they will see her being that she's a teenager.

I try to take all of the info I learn from here and pose questions based on that to the drs.

It's really strange that my mom is enduring a mysterious illness very closely related to what Kay is going through. Except my mom has been in stage 3 renal failure also and the drs cannot find a reason for it.

As far as Kay goes, I will not stop until I know what all is involved and what all can be done to help her. I am determined to be proactive, overbearing, aggravating, whatever it takes to get her the help she needs.

[crowebirds]

The internal med dr has suggested that we make an appt with a specialty clinic. We talked about Vanderbilt, but do not yet know if they will see her being that she's a teenager.

I contacted Vandy for my daughter and found out that the specialty clinic does not see anyone under 18 years old.

[k'smom]

Thank you for letting me know, I appreciate it. Best wishes and prayers to you and your daughter.