New Diagnosis, Dysautonomia With Pots In Severe Stages

[swreeder70]

I will apologize upfront for the long post, but hoping that we will get some advice and support from this forum.

My son who is 12 has just been diagnosed with Dysautonomia with POTS. We have been chasing after his problems since the early fall, and finally found a Dr. that was able to diagnose him. He is a textbook case having every symptom listed with the disease. In hindsight we think we can see early symptoms of the disease, all in low moderation over the past few years. However it kicked into high gear (most likely triggered by puberty) this past fall.

Early on it was thought that he had problems with his Pituitary gland, diabetes or Addisons disease. After many tests, with results all over the map, he was referred to the diagnostics clinic at the hospital. It was from this that the Dr was able to pin this to Dys with POTS.

He is for the most part incapacitated these days and not able to spend more than 30 minutes TOTAL per day sitting/standing combined. On rare occasion we will get a few hours where he feels good, but they are few and far between. It seems he is in a downward spiral. He has two weeks into conservative treatment that has had no impact. Dr's advised for increased fluid intake combined with salt tablets. He drinks 1.5 gallons of milk per day, and eats virtually nothing.

We were fortunate to get a call back from a well known Dr. at Johns Hopkins. He was brutally honest with us and said that we are in for a long hard fight. He recommended we stick with the Dr that is currently seeing our son and stay the course.

So I just wanted to get this out there and see if there is anything different we should be doing or thinking. Our son went from a very active individual straight A student to now struggling with basic daily functions.

I welcome all advice, comments, suggestions and thoughts.

[sue1234]

Welcome! I would push to go back to a good endocrinologist and relook at the endo labs/testing that were "all over the map". Obviously, something is going on with the endocrine system! POTS is not a "disease" itself, but more of a catch-all term from how the body is reacting to being upright. There are various possible causes, but endocrine is a red flag in your son's case.

Could you share what endocrine tests they did and what values were out of whack?

[swreeder70]

Thanks sue1234 for responding.

Here are some more specifics. Also worth noting is the Endo has been one of the best Dr's we have worked with. We talk to her on almost a weekly basis and she is very complete and thorough with all the details she shares with us. She is actually the one that got my son into the Diagnostic Clinic in less than two weeks time which is unheard of.

Anyhow, He has had many blood samples taken. Most notably there have been swings in his cortisol levels in the AM. Sometimes in the normal range and sometimes low. But never consistent enough to indicate anything. We have also recorded low sugar levels on occasion at home, but his official blood work the sugar levels are normal (to low). Serum levels have been both normal and low in many of the tests.

He had a MRI of the brain that detected a Pituitary lesion (Rathke's Cleft) which the has been ruled as incidental finding.

From there we had a CRH Stim test. His cortisol level did not quite double in the test. His ACTH tested normal. They would like to see a double or better in this test. (this ruled out Pituitary or Hypothalamus problems)

Next we had a ACTCH stim test. His cortisol levels were in the normal range and slightly went above double in the test. (This ruled out addisons)

From all the other testing, the Endo has ruled out a endocrine problem and off to the Diagnostic clinic and team of Dr's.

Looking over all his lab results (months of blood tests) the Diagnostic Dr came to the conclusion of Dysautonomia. They then add POTS to the list based on symptoms and a heart rate that goes from mid 60's to low 130's with a poor mans tilt table test.

[cmruls]

I am so sorry and sad for your son. This sounds so terrible. What milk does he drink? whole, 2%, 1% or fat free? Now that you have a dx. hopefully your doctor can work out a treatment plan.

[juliegee]

Hi Mason's Dad-

I am so sorry that Hopkins was not able to help. Out of curiosity, WHICH doc did you speak with? My son is blessed to be treated (mostly long distance) by Dr. Peter Rowe, whose been a godsend to us. Unfortunately, he's not taking new patients.

My son was also a straight A student, stricken at age 12 and was bedridden for almost a year. He is on a good med/lifestyle regimen now and has shown much improvement- he attends school full-time and will graduate this spring- a feat we never though possible at age 12.

Tell me what meds your son is currently on. What have you tried? What has worked, what hasn't? What are your son's worst symptoms? I will share all of Dr. Rowe's info with you. It can easily be implemented by any caring doctor.

Unlike Sue, I suspect the endocrinology stuff is probably incidental and not of any real clinical significance. For some reason, many of us have incidental pituitary abnormalities. Unless, it is secreting something, they are usually just watched. His cortisol SHOULD be higher in the AM, but looks like Addisons and Cushings have been ruled out. Because of the low cortisol, I'm suspecting that florinef might be a very helpful med for your son. Has he tried that one yet? It also boosts blood volume is and is very helpful for POTS.

Many of us have lowish sodium and blood sugar. I know your son is probably salt & fluid loading now. Frequent high protein snacks are also very important if he can tolerate them.

I have lots of good info to share. More later. A belated welcome, BTW, to our autonomically dysfucntional group. Sorry you have to be here, but glad you found us.

More Later-

Julie

[swreeder70]

Hi Mack's Mom,

Dr Rowe is who my wife spoke with at Hopkins. We were blown away that he picked up the phone from an email my wife sent and called us directly! He spent about 45 minutes on the phone with my wife. He did know the Dr that is treating my son at Children's Hospital of Philadelphia and recommend that we continue with him. He gave us a lot of information and a reality check of just how difficult this disease is.

As for treatment,

Early into this he was placed on a low dose of amitriptyline by a Neurologist. It had no effect and he was taken off of it.

12 days ago he started taking sodium tablets with increased fluid intake. He has had no response to this and seems to be a little worse each day. The plan is to re-evaluate him at 14 days and determine where to go.

Mason is drinking 1.5 gallons of Skim milk and we try to buy the 100% natural steroid free kind. He drinks some water but does not like anything else to drink so milk is the choice.

[Victoria]

When you have time, please read as much info as you can on Dr. Theodore Friedman's website: http://goodhormonehealth.com/ He is an excellent research scientist/endocrinologist.

Most endos won't treat pituitary or adrenal issues unless labs/pituitary MRIs, etc. fit diagnostic criteria perfectly. They try to cram us into too small of a diagnostic box.

Is the endo 100% sure it's a Rathke Cleft Cyst? Have you had a second opinion and has your son had more than one pituitary MRI?

[sue1234]

Victoria, I agree that that site is really good and I have reread it many times over the last few years. If I could have physically gotten to Dr. Friedman, I would have gone a couple of years ago! He seems to be the "guru" for pituitary and adrenal issues.

[HopeSprings]

Wow, I am sorry about your son. I continue to be amazed how this thing just strikes people out of nowhere. You and your wife seem very smart and resourceful. Just wanted to mention there is also Dr. Julian Stewart who works with pediatric dysautonomia patients. He's in NY. I sincerely hope you get all this sorted and your son gets back to full functioning.

[swreeder70]

We have read Friedmans info when our problems initially started to happen. We have three doctors that all diagnosed it as a Rathke's Cleft Cyst. We traveled to Pittsburgh to see one of the nations leading Neuro surgeons and she along with the two other physicians that have seen my son all indicate it is an incidental finding. Since the pituitary, endocrinology and dysautonomia are all intertwined and related, I personally have about a 90% confidence factor that is incidental for now.

One other interesting thing to note is that 5 years ago my son had a 1 in million complication to a toncilectomy. The complication was Grisel's syndrome which in simple terms is an infection of the spinal joints. Treated like Menangitus it may have played a part in all this, hard to tell as there are very few physicians that know what Grisel's syndrome is.

[mwise]

Welcome Mason's Dad,

I am sending hugs to you, your son and family. This is the best forum for information and love.

I am going to add to the mix of things that I would get a second opinion with an Endocrinologist. I will also suggest seeing a Gastroenterologist and a Dietician to help with the caloric intake. Since he does like milk, I would recommend Stoneyfield Products-yogurt smoothies and their yogurt products to help with calories. I know several young persons including my own teenage daughters who like the taste of the yogurt smoothies along with their other yogurt products.

I would also look into to seeing someone who specializes in homeopathic treatments. They will do lab tests and recommend natural supplements which could boost your son's energy level. For instance, vitamins B & D help with energy and C for healing.

Reinforcing what others have shared is continue to do lots of research along with educating the physicians and staying on them about how to treat your son's disease process.

[juliegee]

So happy that it was Dr. Rowe who spoke with your wife! He did the same for us, called us at home and spoke for almost an hour. The only reason that he accepted our son as a patient was because he was referred from within Hopkins by another dept. Mack had severe GI symptoms with his dysautonomia.

You are on the right path. Dr. Rowe also had our son start with sodium tablets (6 Thermotabs a day/2 with each meal) and increased water. That DID help a timy bit so then he started him on florinef. THAT was a godsend. At the bottom of this message I will send you a link to Dr. Rowes most current info. It includes a list of all of the meds used for this condition, how, & when to take them.

I see a possible problem already. I have to assume that Mason has NO GI symptoms. No nausea, no GERD, no vomiting, no diarrhea, no constipation, no early satiety, no bloating, no weight loss, etc. If he does have ANY of those symptoms; Dr. Rowe INSISTS that his patients get off of ALL dairy. Using milk to boost blood volume may actually be making him worse Apparently, a pediatric GI, Kevin Kelley, has found that patients with any forms of dysautonomia who are having GI symptoms- will have GREATLY worsened orthostatic intolerance with dairy. I am guessing that gatorade, G-2, powerade, etc may have to replace the milk for Mason to see some progress.

Here is Dr. Rowe's informational brochure. It is chock-full of info, from page one tlll the end. I still learn from it every time I re-read it. A caring doctor can begin treating Mason with the information in that brochure. I suspect that Dr. Rowe has already E-mailed it to you, but just in case he hasn't:

http://www.cfsnova.com/OI_and_Treatment.pdf

Please share his biggest symptoms so I can make better suggestions.

P.S. Sue & Victoria, sorry for stepping on your toes! You are both very wise & I am eager to look into Dr. Friedman's research for myself too It just sounds like this poor kid needs stabilization and needs to begin a basic treatment program before he starts exploring alternate etiologies, that his docs have already ruled out. My hope is that his docs will come to realize that florinef could support his low adrenals, cortisol AND treat his hypovolemia... giving this family time to explore alternatives.

Julie

Edited March 23, 2011 by Rachel
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[HopeSprings]

Interesting about Grisel's Syndrome. We have talked on here before about whether spinal issues might play a role in developing dysautonomia. I was going to ask you whether you can think of anything that might have triggered this. Like anything ... an illness, an injury, a new medication, an antibiotic, a vaccination -- anything that he might have encountered prior to the symptoms developing. A woman posted a few days ago about her 22 year old son and I asked the same question and she said no, he was fine one day and sick the next -- nothing she could think of at all. I just keep thinking there has to be something, but what?

Julie (Mack's Mom) -- do you have any thoughts on this?

[sue1234]

No problem, Julie! I also use Dr. Rowe's theories, especially regarding the possible connection to pelvic congestion syndrome. I am having my gyn address that one in the next few weeks.

I think it is wise to look at POTS "meticulously" from ALL angles. I'd hate to get 20 years down the road with POTS and finally find out it was due to x, y, or z, because I never looked at all the possibilities.

I would like to add that Mason seems to be drinking too much! I think a gallon should be about the upper level for fluid intake, otherwise the electrolytes can get seriously diluted.

[Christy_D]

Masons Dad,

Sorry your son is having to deal with this. My son just turned 16 and was diagnosed at 14, after 2 years of looking for answers(he was in the 5th grade when symptoms started). He was also very active, soccer year round plus baseball, gifted student. He takes fludrocortisone and this completely takes care of his dizziness, our main problem is nausea-very debilitating nausea. In the last 2 years, he has only been to school for a little over a month. He is on homebound schooling and on line classes.

Many of my sons problems are GI related, since your son is not eating is this also a problem? Has he had a gastric emptying test done?

Christy

[issie]

The thing I picked up on was the --MILK. We crave the things we are allergic too. It becomes a drug to us. And getting off of the things we're allergic or sensitive to - is like withdrawal from a drug. Since autoimmune issues can come into play with POTS - one of the first things advised is to eliminate dairy, glutten and sugar. I've done this and it has made a huge difference. On another topic, recently, there is discussion of histamine sensitivity and there are many foods that can cause this too. Just another thing to look into. I know that illness like MS respond very well to diet. Sometimes, people have claimed to be cured from diet changes. (We will see - that's my strategy - at the moment.)

[Elfie]

Don't be alarmed if your son doesn't respond at all to the salt tabs and water. Many, many of us don't, or only respond to increasing fluids and salt in combination with a medication like Florinef that helps the body retain more of what we take in. I had horrible dizziness and fainting until we found the right combinations of medications for me and I am still trying to control some of my symptoms.

Also, there are many, many people on the site and other dysautonomia/POTS sites that have had great results with removing allergens from their diets. I have a family member myself that did not have POTS but a severe form of asthma that had great luck with this approach. However, it doesn't work for all people. I definitely wouldn't try to remove the milk from your son's diet until you could safely replace it with something else he will drink that has similar or better nutrition and you might want to do it gradually. A non-dairy product similar to Ensure would at least make sure that your son is getting the nutrients he needs if you are going to test the milk theory out. He could supplement his fluids with gatorade or something similar.

My personal response to eliminating foods/potential allergens was not a good one. I did a standard (but very thorough) elimination diet and found out I am allergic to . . . .no foods! Just as I had suspected, but I had docs and other suffers insist. I am allergic to several medications and preservatives. I have had to switch to organic milk because of hormones and additives bothering my stomach, but on organic milk I am fine. Anyway, eating very clean like elimination diets tend to force you to do may make him very irritable if you can ever get him to the point he is eating enough regularly to do so--- even after the supposed "withdrawal/cravings" period I could not eat enough to have energy when eating clean (eating an extra 1,000 calories a day and loosing weight I didn't have to lose)---- I was a teen at the time and even after months of being off of it my body still craved the sugar. As soon as I started eating processed grains and sugars in small amounts again I felt great (still POTSY, which never went away, but no longer like a complete zombie). I think this is a fairly common phenomenon amongst teenagers, especially boys-- teens, especially with poor/delayed digestion sometimes don't have time to convert more complex foods into fuel before they need them (based on male family members and also the wrestlers that I used to work with).

I too had high cortisol levels on tests at times and had a very minor pituitary lesion all which added up to nothing.

When you say your son can only sit/stand for 30 minutes a day, what do you mean by that? Does he get feeling ill after that time or is he passing out/having a hr in the 140s? When he is up is he sitting still or is he moving?

[issie]

Sorry to disagree with Elfie - a little any way - my husband and I have experimented with soy and it's not good for anyone as far as we're concerned. I know there are differeing opinions out there. But, from experience - they messed both of our hormones up. Dr. Mercola, who has a web site and newsletter - tends to agree - as other doctors are starting to realize this now too.

[lieze]

I have to say something here because I am starving to death over here...and I do great on milk in fact I feel good drinking almost 2 ensure a day and several glasses of milk.

We all need calories in some form.

I do not want to anger anyone but until your son can eat or drink other things to replace the milk please do not try to take it away.

Once again I do not want to anger anyone but nothing will help our symptoms if we starve to death.

I think we need to look at priority first we keep our airways open.

let's keep it basic...then we need food and water to survive....without these things it doesn't matter what disease you have, how good or bad you feel don't take away the basics.

The idea of switching him to all gatorade? there is no protein in that at all where as with his milk he is getting a good amount not to mention calcium and potassium.

until you can get further treatment go with what works

people really do mean well but weight loss is a big concern

[juliegee]

Ensure also has milk protein in it. Dr. Rowe has all of his teen patients, with GI symptoms, totally abstain from any form of dairy. It's scary. By the time we got to him, the only thing Mack was consuming was Ensure, smoothies, etc. He could barely eat. We feared that if we cut milk protein out, he would die.

But, we came to learn that the milk protein itself is what was making him sick and, in part, causing the orthostatic intolerance. He's been dairy-free for 6 years now & occasionally cheats with pizza. He pays the price with increased lightheadedness & GI symptoms. He says it's really not worth it.

We learned to substitute Rice Dream for milk. One of Mack's new favorites became rice dream, and frozen fruit- any kind (strawberries, blueberries, peaches) or a banana whipped up in a blender- a highly digestible & delicious treat. Once he got off of the milk, he was able to begin to eat other foods, like on the gastroparesis diet.

It's really scary when your child stops eating. Mack also needed help from GI meds in order for hm to be able to eat- a GI prokinectic, nexium, a probiotic, and zofran for nausea. A pediatric GI motility doctor at Hopkins helped us get him to begin eating again.

Julie

[lieze]

You know when they find substitutes for the milk and assistance with that ---it is a totally different story.

I would not argue with a treatment plan to replace the milk with other foods.

It's when they are on their own at home without the direction of these other dietary supplements and they are just told to not give him milk that I just want to throw my hands in the air.

I have been told the same thing and it's like I'm sorry people if I don't at this point drink my milk, my ensure, my gluten what I see is myself in the hospital getting some type of hyperalimentation.

My advice when possible is don't just tell people stay away from dairy.

Not when that is what they are living on....

I am not suggesting all people need milk or ensure and that without it we cannot live...it's more like until you can get in and get help you have to keep yourself alive on something.

[bkweavers]

I'm so very sorry to hear about your son but glad that you've found this forum. You will find lots of help and support that will be needed in the months and years ahead.

My 14yr. old daughter, Liz has POTS and congenital hypothyroidism. She has no thyroid gland and we were told by one of the POTS doctors that he sees a high incidence of patients with both but not sure what exactly the correlation is. She's into her 4th year with POTS although we've seen huge improvements in her in the last year. The first year was extremely difficult. Dizziness has always been her worst symptom and she spent so many days on the sofa hanging on to it because her dizziness was so bad. She had daily headaches, insomnia, fatigue and she was unable to stand, sit, or walk alone due to the dizziness. She basically spent 3 and 1/2 yrs. lying down.

At the beginning, we made a very difficult decision and put Liz in special education. It was recommended by a LD teacher and we have never regretted that decision. Because of that, the school was able to give Liz the extra help she needed and the state wasn't constantly questioning the many days of absences. It took a ton of stress and pressure off of us and Liz. I would strongly suggest that or what is called a 504 plan. Talk to your school, educate them on this illness and above all, be an advocate for your son. There were times we fought school for Liz but it was well worth it.

I agree with the doctor who told you that you are in for a long fight. I don't want to scare you because your son's story may be very different from my daughter's but POTS isn't an easy illness to treat and on average it takes anywhere from 5-7 years to completely disappear. I've read of some people taking longer than that and some shorter with varying symptoms.

Medications-there were no meds that helped Liz's dizziness but she did find meds that helped her other symptoms like headaches. Everyone is different when it comes to meds. What works for one person may not work for another. Also, puberty and hormones can mess with POTS and meds may work for awhile and then not work. He may go through growth spurts and you may see him worse during that time.

The best advice that we received from numerous doctors was this....help your son stay as socially active as possible so he can feel as "normal" as possible. We're very glad that Liz was able to go to school, even if at first it was only a few hours a day. She attended youth group at church whenever she felt up to it and we had a lot of sleepovers at our house.

I hope some of this helps and I know there are more things I could say. I remember being in your shoes and constantly asking questions of others. The support and information I received on here was more valuable to me than any advice from the doctors. As an adolescent, your son has an 80% chance of growing out of this. People have sent me emails telling how their child was now in college and doing so much better. Those are the stories I held on to and now it looks like Liz will also be one of those success stories. She's getting her life back and is now up and around and almost walking by herself. The dizziness is almost gone and many of her other symptoms have allowed her back to school almost full time.

My prayers and support go out to you, your son, and your family. One more thing. There is a website for adolescents with dysautonomia call Dynakids. They have great info on there to print off for school, doctors, or friends and family. There's also a forum on there.

God Bless!

Brenda

[Kyler]

My son also got diagnosed at 12 with POTS. his was more of a gradual onset since age 7 and not recognized until age 12. I just want to encourage you and echo what Brenda(teacher4k) said. She was a huge support for me and the main reason that I had my son classified as special education as well - It's the best choice that we made thru this whole thing. It has brought him from failing no matter what we did to being an honor roll student, I prionted the brochures fron Dinakids website and gave them to EVERYONE at the school to educate them and most of them have been very undertsanding. Being special ed has made klyler's decline and transition as a result so much easier. he gets picked up at 11:00 and brought home at 1:30 and does 2 classes with a homebound teacher.

I am betting that school is on the bottom of your list at the moment. I agree that perhaps you should at least try to lower the milk intake and rotate with another beverage. My son tells me that drin king too much fluid makes his stomach feel bad - it is a delicate balance that he has learned and i screw up by nagging him - LOL. We tried the salt tabs and it messed my son up even more - it gave him GI symptoms that he didn't have before so we switched to high sodium food diet and gatorate/water rotation. The most important thing that I found was getting the right meds. The first beta blocker that we tried debilitated him - it was bad. The second one worked for a year and then started dropping his BP too much so now we are on #3 and it is great so far. It's all about wait and watch and monitor and adjust. The wrist BP cuff is great and doing sitting then standing BP is very useful to see if a med is working - Dinakids has a great vital signs tracking sheet that you can print. It sounds like he is very ill and he needs more meds to help him. meds are the only way that my son can function. When they were going to take his midodrine off the market I almost had a nervous breakdown because he would be bed ridden without it. It helps his BP and his GI issues.

This illness is scary and frustrating and I grieved for months after diagnosis and I still throw my son a pitty party sometimes (where he can't see). You will get thru this and it does get easier and then harder and then easier. Hang in there and if you decide to try another doc My son sees Dr. Abdallah and he is AWESOME. He is in Northern Virginia. Take care and hang in there.

Serena

[Elfie]

Confused a bit--- is this because I suggested Ensure? I didn't mean Ensure itself, but rather a product like Ensure (I though I specified that, but probably wasn't very clear) that is used as a nutritional/caloric supplement. Although almost all of these type of things have some form of allergen because of the source of protein (whether it be whey, soy, ect) picking one without the allergen you are trying to eliminate might be a solution. The OP says his son isn't eating, but drinking milk instead. If milk is a possible problem for dys-symptoms they have to replace the milk with something and if he can't tolerate solid food he needs something nutritious to drink. The only other alternative I could think of is a g-tube or IV nutrition. Obviously, it would be best to avoid this if not necessarily.

Definitely did not suggest soy. I have a relative that stopped growing early because of the hormonal effects of large amounts of soy from a young age. Sorry if I confused anyone into thinking I was advocating for soy or that Ensure was milk-free. I was using ensure as an example of a nutritional supplement rather than advocating that was the one the OP should try.

[juliegee]

Good Morning, Elfie-

I'm afraid we have hijacked this thread. I will start a new one entitled "Dairy" and we can continue the discussion there

Julie

Edited March 23, 2011 by Rachel
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