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Posted: 14 December 2013 11:53 PM   [ Ignore ]  
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It all started with a CPS threat from my 8 yr olds gym teacher! Lucky for me the school nurse knew enough about me to know I was not beating her up. Right after this convo she got sick, and was out of school for most of the last month of school. She was diagnosed on our first visit to a pulm. I really thought we were going to him for her to be undiagnosed with asthma. Wrong. He took one look at her, did the b-scale, ask ?‘s about her history and told us he was 98% certain she had eds. Over the next 3 months it was test after test. Confirmed HEDS(Cincinatti Childrens CTC),tracheomalacia, chronic obructive and reactive lung disease, pulm, tri, mitral(prolaspe) vavle regurd(mild),“bovine arch”, low muscle tone, patellar dislocations,bradycardia,av hypoventilation, and sleep disorder. Seeing neuro soon for ANS testing. Any help with this appt as to what to ask, test…??? (Yes this is a re-post, not sure how this forum works yet)

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Posted: 21 December 2013 06:35 PM   [ Ignore ]   [ # 1 ]  
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Hi Smileys, thanks for sharing your story. A diagnosis from a pulm, and on the first visit? WOW.

I’m no expert on ANS, but I’m an RN with POTS so I’ve had a few of them - there are many, however. I’ll name them here and let you Wiki them yourself. I think a Tilt Table Test (TTT) is a must have and all EDSers should have one to assess for POTS, if only to establish a baseline for later comparision. POTS tends to arrive abruptly - and it can at any age.

I also had 2 sweat tests to investigate my heat tolerence. In one, electrodes pass a current through your nerves to see how your sweat glands react, decreased sweating/normal/excessive.

In the second, (thermoregulatory, I think it was called) you get heated up in a dry sauna room after being covered in a powder that shows where sweating is occurring. The vitals are also taken often to observe changes in heart rate and blood pressure.

The last test monitored heart rate and BP while doing to the Valsalva. We usually do it instinctively when struggling to defecate, and that is mentioned as they explain what they want you to do. 8 is an awkward age, she might benefit if you bring that up first. Surprise poop discussions with several strangers? Noooobody wants that. Maybe 8yo BOYS.

Finally, I know of one other test for the ANS but haven’t had it yet, it assesses the gastric emptying time (from eating until they see her stomach is empty). She’ll arrive on empty tummy and be given a mostly carb food choice (often grilled cheese sandwich). Imaging of stomach is repeated until she’s empty again.

Hope this helps. Sending good luck and love from our family to yours.
Caroline

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Posted: 04 January 2014 02:10 PM   [ Ignore ]   [ # 2 ]  
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That’s a great summary, Deuce! Here is a video I did about the experience (think “party”, then take it down about 100 notches! ha). Please let us know how it goes!
http://prettyill.com/videos/watch/diagnosing_dysautonomia

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Dr.Diana, therapeutic optometrist disabled by EDS/POTS/ME/CFS for a decade, now recovered and practicing full-time at POTS Care cheese

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Posted: 05 January 2014 05:20 PM   [ Ignore ]   [ # 3 ]  
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I mis-wrote…I assumed her pulm would refer us to a neuro based on her sleep study report recommendations. He said that on his side of things she didnt need to see neuro. Im not convinced. We did have some labs drawn last week, starting with food allergy and a bunch of other tests i dont understand. Genova diagnostics and spectracell are the names of the labs her blood will be sent to…i seem to have more ?‘s than answers right now. Im hoping these tests can help. Thanks for the tests list. I copied and saved it for later use! You mentioned sweat test…is it odd that she does not seem to sweat(even during PT) or is that just a kid thing??  Her skin is very dry. Some places look like snake skin. The bottom of her feet peel off so bad. At times they crack open and bleed around her toes…i just wonder if its related?

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Posted: 05 January 2014 08:41 PM   [ Ignore ]   [ # 4 ]  
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mygirl, I agree with you—a neurology consult sounds smart. My son lost all neuro reflexes in his upper body for a while! A QSART and thermo-regulatory test will tell you if she is not sweating due to small-fiber neuropathy. This is important, as early treatment can sometimes stop and even reverse the process. Any autonomic clinic can do this… I’m studying our skin peeling now. Has your daughter been checked for mastocytosis (they will often find high tryptase in the blood)? That may be one of those tests you’re unsure of on your list! wink That reminds me, one day, all of the skin on the bottom of my daughters feet came off in one hunk (not painful). No, I don’think it’s normal, or a kid-thing! wink She has some skin signs that we believe may be skin manifestations of systemic illness. As Amy on this forum has noticed, though, many of us seem to have “plain old dry skin”. wink 

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Dr.Diana, therapeutic optometrist disabled by EDS/POTS/ME/CFS for a decade, now recovered and practicing full-time at POTS Care cheese

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Posted: 06 January 2014 12:54 AM   [ Ignore ]   [ # 5 ]  
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I will ask about mass cell. It seems like a no brainer possible diagnosis for her once i looked it up. She welts, petchea, hives, bruises, turns red splotch, scales,slothes, bleeds,exezema, musluscum,dry, spots…all since birth. Showers adhesives, buttons, scratching, lotions all cause above mentioned. As for autonamic testing…im done being passive thier gonna refer her! Some of this stuff seems like it could be helped if i could just get her body balanced. But with heart, lung, sleep disorders…im scared to death to give her and vit/minerals. She takes JUICE+ multi and PROTANDIM(THIS STUFF IS AWESOME!)she is so toxic/deficient i dont know what else to do. She is very small and skinny with pot belly so malabsorption, bio-unavailable seem likely.i just wanna give her the best life with the least amount of pain and suffering. Im a single mom fighting docs, ex, ins. Im sorry for the mess this post is, im just at my wits end. The geneticist said to give her 64oz of water and more salt…kinda hard to do with an 8 yr old. Plus she loves water has a bottle with her most of the time has for many years, would eat sea salt(from health food store if i let her! doesnt seem to help. Pulm path had macrophages in the lungs. Her blood work at birth showed giant, lg, and tear drop platelets, monocyte low or high cant remember. Morphology report was full of sytosis’s have to look it up, her blood ph and urine is off and gas exchange. Im wondering if you have ever done or considered doing a clinical trial involving hair analysis? I just watched your video on Mg. Hair, being soft tissue that ‘stores’ information. My daughters hair analysis was insane! All elemental ratios were off the charts (literally). I have tried to show it to all 6 of her doctors. They look at me kinda crazy then say they dont deal in that or just dont know. I would love to send it to you, if that would be ok and if i can figure out how! If you need her for the skin peeling trial let me know! mostly feet but occasionally her fingertips. Labial minor and major hypertrophy. Bladder and costipation issues, headaches in just one eye, blue sclera. All of this is angoing since birth. Sporadic HIGH fevors, respitory infections, long wound healing time. Illness related recovery time is avg 6 weeks, because she just gets one thing after another. PT helping with balance   and muscle tone. Protamdim has brought her low hr up some and she does seem to have a few less symptoms…only been taking it for couple months now. Its a nrf2 activator. Supposed to lower oxidative stress(as red as my 61 yr old dad with diabetes! We ordered the urine test for this. Will retest in couple months to see if its working!

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Posted: 06 January 2014 10:26 AM   [ Ignore ]   [ # 6 ]  
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Hi mygirl, I so understand how you feel! Many of us feel like we are at death’s door, but have difficulty getting our doctors to see the whole picture—specialists tend to look just at their own area. My small team is working as hard as we can—please consider the one-on-one advocacy (you’ll see the link on the website’s home page) or a donation to help speed things along! I am spread soooo thin, that taking on individual cases is difficult at best, and I need to bring in specialists, which is also tricky at this juncture. It will be easier when we are better set up to accommodate such requests with a bigger team. Meanwhile, I think everyone here is happy to share their experiences about what has helped them, if that can be useful. Hang in, my friend. I’m peddling as fast as I can! wink

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Dr.Diana, therapeutic optometrist disabled by EDS/POTS/ME/CFS for a decade, now recovered and practicing full-time at POTS Care cheese

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Posted: 06 January 2014 03:37 PM   [ Ignore ]   [ # 7 ]  
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Thank you. You have already helped me plenty! I watch your videos and advice. I did find macrocytosis on her morphology report…here is the list.
Poikilocytosis/slight
Macrocytosis/marked
Polycromasia/moderate
Basophilic stip./slight
Teardrop cell/occasional
Hematocrit 44.1 L
Monocyte 16 H
Hair analysis Cu/11.8 Mg/22.0. Ca/136. Ni/.27. Ba/.59 are the elevated. Most others were low.
If you or anyone can explain the morphology report please do!!! She was 6weeks early. Jaundice/bili lights for two weeks after birth.

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