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As you can see in the header my daughter has a lot going on. One of her doctors thinks EDS is the underlying cause of it all, another dr thinks the mitochondrial disease is the cause. We are currently waiting on DNA testing (whole genome). Our story is REALLY long so I’ll try and get to the point! Daughter sick since 2009, misdiagnosed and told by 6 neurologists that it was all in her head. A year ago she could not walk, roll over, sit up, and was having “seizure like” episodes all day long. Nov 2012 she had skull to C2 fusion and decompression in Maryland with Dr. H. She had major complications unrelated to the surgery and ended up in the hospital for 5 months. In April we returned to Texas. She was in much better shape but not perfect. Since then she has been in the hospital every two weeks like clock work. She has these “non epileptic spells” that look like seizures, they leave her weak, unresponsive, unable to swallow,,,etc. It’s a vicious cycle. During her 5 month hospital stay we discovered how much iv fluids helped her, they seem to alleviate these episodes. She was also started on diamox due to suspected high pressure.
We’re in San Antonio. She sees a Complex Care doctor here but he doesn’t really seem to understand all this. He has spoken with her other doctors but he just doesn’t feel comfortable treating “suspected” anything!! We’re having trouble right now as she seems to be getting sicker and not having published research on some of these theories is hurting her. Most recently she was hospitalized with these spells but she started something new. She was posturing, like tonic spasms. She was like this for 2-3 days. In the hospital 8. Her CO2 was 13…….duh everyone acidosis is causing these spasms in her! Well, wouldn’t you know instead of acknowledging this they spent the first three days trying to convince me she was catatonic and this is still related to psych issues!!!! UGH, I can not tell you how long we have dealt with this. It’s heart breaking. Last year when she couldn’t walk we were told nothing was wrong with her and she would walk when she wanted to. Guess what, she had chiari, cranial cervical instability and severe brain stem compression. After the surgery she could walk again. Glad we didn’t listen to them.
So – finally to my point…She had labs last Friday, her CO2 was 13. After much convincing the local dr prescribed potassium citrate tabs. We have a standing order for labs and we’re going Friday to have them checked again. This dr is not comfortable with any of this. He told us “I’m prescribing diamox for something I don’t believe she has, now I am treating dangerous side effects of a treatment I don’t see as necessary.” I feel if we can quickly get my daughter in balance he will “play along” otherwise I feel we are getting to the point that diamox will be withheld. Needing some advice on quickly getting her in balance! Are there any other options besides diamox?
Lastly, Dr. H, her neurosurgeon is a big proponent of anticoagulation. He spoke with the hospital doctors about this – he thinks she is forming micro-thrombi and these “spells” are from this. Well, no one here will anticoagulate her. It’s scary either way – CO2 of 13 is scary, clots are scary….I worry every day about the fragility of this situation. Any thoughts on anticoagulating?
Sorry I rambled – so much more to the story! BTW, we live in San Antonio. Anyone else here?
So sorry to hear all that you and your daughter are going through. I don’t have any answers, but can share what I have found from being on Diamox.
First, CO2 being low is caused by Diamox, but is easily treated with bicarb tablets (I buy them on Amazon). Potassium citrate is for low potassium, which can also happen while on Diamox (it has for me) but as far as I know and have experienced, potassium citrate does not improve the acidity showing us as the low CO2. I have to take bicarb to keep my CO2 in range. Potassium level is a separate test. With both you have to play around with the amount one takes and then run labs to see how much one needs to get in the normal range.
Hope this helps some!
Hi donnadear! And welcome! I’m so sorry to hear how difficult this journey has been for you so far. Sadly, you are not alone. Can I ask first, how old is your daughter? If you can help me by filling out the “Symptoms Checklist” under “Articles and Handouts”, and shoot it back to me (please remind me who you are), that would be awesome. Do you happen to have your daughter’s head circumferences (and weight and length) from approximately birth to approximately 15-18 months? That can tell us if she has dealt with hydrocephalus from basically birth (as my kids did), or if it may be something new (as mine was). The checklist will give us a place to start (and her age will be critical, too). Cool? As far as anticoagulation goes, I DO believe that we are prone to clots, and those of us who have genetic or acquired disorders of blood coagulation seem to do much worse than the rest of us. Has your daughter seen a hematologist? They can check for these disorders, as treat as needed. As far as acidity goes, a urologist is trained to help people who are on Diamox continually. Ours had lots of advice, and helped us monitor everything to keep us on track. He DID recommend potassium citrate, instead of the non-citrate form (when I needed some potassium at about month 9), and he explained that it would help prevent kidney stones, too. I HIGHLY recommend a good urologist — this is what they do! I’m curious as to your daughter’s dose of Diamox, too. When I got a bit too acidic, I kept increasing my Diamox dose! Wrong thing to do! Interestingly, after about 2 years, I was able to go off of Diamox completely, and went back on it when I became inflamed after an injury. My kids and I now maintain at a small dose. I am currently working on a non-invasive way to check for this special type of hydrocephalus. Fingers crossed! We NEED a way to do this to avoid puncturing our dura. Sometimes it just doesn’t heal, or reopens even years later. Yikes. BTW, when I asked Dr. Francomano if we should run a study for Diamox, she said, “That’s silly. If the patient has symptoms and/or signs of hydrocephalus, we treat that with Diamox.” Ah, the voice of reason! Hang in, my friend…
Thank you for the replies. My daughter, Kendall is 17. I know I don’t have head circumference info…I guess I could get from pedi, will check on that. I love what Dr. Francomano said about diamox, unfortunately my daughters dr here in SA doesn’t feel that way! It’s too bad the doctors we have finally found are so far away. What’s the problem with Texas!? Sadly after all Kendall has been through we still do not have support here at home. Kendall has seen several hematologists. She has mild abnormalities that lean towards a clotting issue, but nothing definite. I still think there is something there and hope to get her worked up with a more EDS knowledgeable hematologist some day soon. BTW one of her complications following her neuro surgery in November was an unidentified internal bleed. led to a hemaglobin of 2.3, thanks to God she miraculously survived this. I guess this scares people away from anticoagulating her!! She is being checked for type IV but she really doesn’t fit that mold. Oh – also seeing neuro-opthamologist next week. We met her while in hospital. Thankfully she was able to validate what I had been telling the hospitalists all along – you don’t need a swollen optic nerve to have high pressure. I’m printing info on EDS eyes to take on this appt.
Dr. Diana, I’m curious how could you no longer need diamox? What changed? Kendall is taking 250mg twice day. We made the same mistake of increasing it too, I also learned it was the acidity causing it not to work, not that she needed more. The problem for us is, here at home I’m just a mom that has spent the last 4 years trying to figure all this out. When we meet doctors that have no clue they just aren’t comfortable with a mom giving them advice on how to treat their patient. Then, when I finally convince them to contact our out of state doctors they just don’t buy in to all these theories.
One more thought…Kendall at one time was on 3-4 liters of fluids daily, I really saw this helping. Unfortunately her TX doctors don’t buy into this treatment either! We finally convinced them to try a liter a week. I see she needs more but I don’t think we’ll get there, instead she ends up in the hospital every couple of weeks. Dr. Diana, what’s your take on IV fluids for dysautonomia symptoms?
Hi Donnadear,
Many of us face the “to clot or to bleed” issue, I’m afraid! My mom recently had her third ischemic stroke, and when they started the blood thinners again, she had a brain bleed. Yikes.I’m back on Diamox again, and trying to figure out why I went so many years without needing it, then needed it, then didn’t need it, and now I need it again! I guess we’re not easy patients, huh? As far as IV fluids, I think every case is different. I like to look at EVERYTHING as we try to figure out how to return to homeostasis. For my kids and I, hydrocephalus was such a problem that even salty foods increased our hydrocephalus symptoms. Florinef put me over the edge, and I imagine the top of my head would likely blow off with an IV. Ha. No, that’s not true. I had an IV of saline recently to flush out the CT dye, and didn’t notice any difference. 😉IV fluids (multiple bags) are the only way to get out of a bad POTS attack for me, but they do give me a huge headache! Slow drip IV’s don’t give me a headache, but it has to be really slow. Florinef put me over the edge too. Also, like you Dr. Diana, what worked last year isn’t the same as what is working now and it is ever changing. Some things work well for a time, then randomly stop working. That seems to be common with hyper POTS.
IV fluids (multiple bags) are the only way to get out of a bad POTS attack for me, but they do give me a huge headache! Slow drip IV’s don’t give me a headache, but it has to be really slow. Florinef put me over the edge too. Also, like you Dr. Diana, what worked last year isn’t the same as what is working now and it is ever changing. Some things work well for a time, then randomly stop working. That seems to be common with hyper POTS.
Absolutely, ourfullhouse! It’s hard for US to know what is going on in our bodies on a daily basis. Imagine being one of our doctors who has no clue what they are even trying to figure out! I strongly believe this condition goes through “phases”. You and I can probably both recognize what “phase” a patient is in fairly easily! Hang in… 😉
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