Need Help with Obtaining Diagnosis

[LynnieC]

My (almost 14yo) daughter went from being a happy, social, sporty, smart, fit,  beautiful, life-loving girl 6 weeks ago to a shell of herself.  It started with a constant headache which turned to "spikes" of intense pain in her head when she stood up.  She has had all of the "standard" tests to rule our cancer, aneurisms etc., has spent almost 2 weeks in hospital and is not getting better (is getting worse if anything).  The doctors have gone the migraines/puberty/ anxiety/stress path and have had her on Endep and Topamax for the past month.     We have had frequent trips to the ER with them giving her strong IV pain killers and  her lay down.  She usually sleeps (passes out) for a few hours and the "spikes" subside so they send us on our way.    All of the tests they do are while she is laying down so she is OK.  She is also sleeping through the night without spikes so they are questioning her authenticity (and won't accept  because she is laying down).

They will not listen that this is not her.  I know my daughter and everyone who knows her have said that is not her and can't believe how quickly she has changed.  I am concerned she may get depressed from the lack of anyone listening to her and not getting any relief of help.  It feels like we are being treated as "crazy".  I have started taking a friend with us to all appointments for this reason.    Other symptoms are dizziness to the point of almost passing out, feeling hot (even when everyone else is cold, but has a normal temp), sweating (especially during spikes).  She is very noise sensitive when
she has the spikes and light phobic as well.  Her appetite is fine and she has been drinking a lot.  Tests showed slight dehydration (even though she always drinks a lot of water and had just received a bag of IV fluids) and very mild anaemia. 

Her resting heart rate goes from around 60 to 150-160bpm  when she stands.  I  suggested POTS as an option to the hospital doctor who took her pulse lying down and then standing and said it had increased a lot but that could be because she was having a "spike" at the time and was very dismissive.  She said the only way to know would be to do the tilt table test but she doesn't think that is warranted  by an abnormal pulse test.    I have been keeping a record at home of her pulse and vitals (taking them at various intervals) and it is still the same.   I plan on taking this data to our next appointment. 

We have tried doctors, hospitals, physio, massage, chiropractor, wellness centre, acupuncture with no relief. 

Last week, our GP put her on 1 x 100mg Asprin per day and 30mg of Cardizem  2 times per day.  I have also been giving her extra salt in her diet and electrolyte drinks.  These seem to have reduced the frequency of the "spikes"  (which has been wonderful). 

Does anyone have any suggestions as to what I should do next?  We are in Australia and I don't think POTS is as well known over here. 

I appreciate any help or advice you can provide as she has missed 6 weeks of school and I want my beautiful girl back :-( 

[DizzyGirls]

I am so sorry that your daughter is so ill!  This is awful!  What is even more awful is that no one believes you.  Believe me, I've got two daughters and we've heard it all!  Has anyone ever suggested a lumbar puncture to check her spinal fluid pressure?  My daughter had very similar symptoms to yours (she's 21) and she had a lumbar puncture because the doc, a headache specialist, thought she had something called pseudotumor cerebri.  They also use the term idiopathic intercranial hypertension.  It's very painful and our doctor was concerned that she could lose her sight because it would black out sometimes.  Not pass out, but her vision would just black out momentarily.  They drained about 25 mls of fluid and, remarkably, she did feel better for a while.  We have now discovered that my daughter has cervical medullary syndrome that is caused by her cervical instability, which is caused by Ehlers-Danlos Syndrome.  Both my girls have EDS as well as Dysautonomia, POTS, and vertigo. 

As for the school, can she do her studies at home, a little at a time?  We had to homeschool our girls because they have been unwell for most of their lives.  The EDS hit early, the POTS around puberty.  I hope you can find some answers soon!  Btw, welcome to the forum!!

[StayAtHomeMom]

I think you are on the right track with keeping a record on her vitals.

I did a poor man's tilt table at home everyday for a month, brought the data to my second cardiologist who agreed that is weird. Put me on a tilt table and now I have a POTS diagnosis. That was back in Janurary. I have been working since to find the cause, but it is slow going.

My symptoms started with a breathing issue almost 2 years ago. I have had it all day every day since then. I am beyond frustrated with the breathing issue. Especially since no medication seems to relieve it.

It took over a year for me to find a few doctors that didn't write me off as "crazy".

Now I am working on my 14 y.o. son. When I first got sick I thought it was viral or enviromental because my son seemed to have similar but not exact symptoms. When I did my first poor man's I thought my machine was broke so I tried it on him. His heart rate freaked out. So after I tried it out on my husband and it was normal, I am assuming he has something similar. His biggest problem is chronic headaches. He has had them since November 2015. Almost daily. They change In area and intensity but he gets them at least 5 days a week.

I brought him to his first cardiologist appointment over a month ago, she said he needs to drink 6-8 BOTTLES of water a day, and the diagnosis didn't matter. I walked out of there steamed. I have a clinic about an hour from where I live that specializes in children, that another member on here tried out for her daughter, that I want to take him to as soon as I get my vehicle fixed.

Have faith, don't give up, and I am sure you will find answers. Good Luck!

[BuffRockChick]

I agree that taking vitals at home and gathering data is a strong step towards getting answers.  

I acquired a psychiatric misdiagnosis 13 years ago and as symptoms and "atypical response to medication" accrued, I acquired more and more psychiatric misdiagnosis.  I had never noticed the tachycardia other than feeling ashamed for "being out of shape" and vitals are always taken seated at the doctor and psych appointments, so it was missed!  I stumbled across the POTS diagnosis myself, did the standing test and not only did it provoke tachycardia, but also my "psychiatric" symptoms.  I collected data daily for weeks in order to establish patterns and present the information to my PCP.  The thing that really got his attention is that my "psychiatric" symptoms begin when I stand and end immediately after lying down.  That got me past the psychiatric diagnosis and my fitness tracker heartrate data and graphs established my pattern.  He had me stand up to check pulse and blood pressure, and then got me set up with a referral. ? 

I found a blog post with detailed information about preparing for doctor appointments for dysautonomia / POTS.  I bet you'd find it with a quick google search.

Best of luck to you!  I hope you have more productive appointments in the future and she gets relief!

[LynnieC]

Thank you all.  Some very useful information.  Dizzygirls - they have done 2 lumbars and all results have been within the "normal range".

I will keep pushing on ....

[DizzyGirls]

Even though your daughter's numbers were within normal range, did she happen to get some relief for a little while after?  Just curious because my daughter's was just slightly elevated.  In most doctor's eyes, not enough to cause her extreme symptoms.  After she had this done, however, she was put on a trial dose of prednisone (by a different doctor treating another issue). She took 7 mgs a day for a couple of months.  I believe that it was the prednisone that actually helped the headaches to get better.  My daughter also had inflammation in both optic nerves and both her optic disks were blurry.  Has anyone checked your daughter's eyes for this?  It's called papilledema.  When the neuro-opthalmologist did a recheck on her eyes after a month, her optic nerves were back to normal and her right optic disk was good.  The left was slightly blurry, but much improved.  I really think it was the prednisone that reduced all of the inflammation.  Anybody ever considered a low-dose prednisone trial?

Has she had any imaging done?  Any kind of brain and/or cervical MRI?  Does she complain about a stiff neck or her head feeling heavy?   Your daughter's symptoms sound very much like how my daughter was about a year and a half ago.  I am so sorry you are having to deal with this.  It's horrible, but hang in there. 

[HangingByAThread]

Hi LynnieC,

I was nowhere as sick as your daughter but before I was diagnosed my biggest issue (besides cardiac and the nearly passing out) was migraines.  It was something I had lived with for years but they had worsened.  I tried Topomax but it didn't help much.  Over the years various neurologists told me they were everything from ice pick headaches to cluster headaches, sinus headaches, migraine headaches and menstrual headaches.  It got to the point where I could barely stand when the pain struck and you could see the veins sometimes bulging on the sides of my head.  At one point an episode lasted more than a week straight so I went to the emergency room (thinking I had something serious like an aneurysm) and they put me on iv pain meds but that didn't even help (looking back, I think it didn't help much because of the positioning - the emergency room was full so instead of putting me in a bed to lie down, I had to sit for hours in a sort of folding chair on iv).  CAT scan and MRI were normal.  Eventually my doctor suspected Dysautonomia (due to the cardiac issues) so I went to Cleveland Clinic and then Vanderbilt.  Vanderbilt asks you to keep a log of blood pressures (lying, standing, etc.) for a few days before your appointment (sort of the poor man's tilt table test).  That log was the biggest eye opener into part of what was wrong with me.  My whole life I had always been told my blood pressure was fine or on the low side (sometimes 90/50) but I discovered that when standing or walking it would shoot up - sometimes very high.  It never occurred to me to take my blood pressure standing up.  To make a long story short, I cannot take beta blockers but was prescribed salt tablets, along with drinking 2-3 liters of water a day, full-length compression stockings (to keep the blood in the upper portion of my body) and a small dose of Methyldopa (the Methyldopa is a centrally acting antiadrenergic and allows your veins to expand - thus lowering your blood pressure).  While I am not symptom free I have improved greatly (two years ago I often wasn't able to care for my kids and thought I'd have to quit my job but now I can somehow make it through most days).  However, the most striking improvement I see is with the headaches.  I think the headaches had a lot to do with the lack of blood flow to my brain and my blood pressure spiking every so often when standing.  I'm not saying this is what is wrong with your daughter but if you can't get to a good dysautonomia lab for testing, you may want to start keeping a log of her blood pressure and heart rate when lying down, then standing up for a minute, then 3, etc.  I hope you get to the bottom of this very soon!