Finding A Doctor And Getting Their Attention

[crowebirds]

My 12 y/o daughter has seen an allergy/immunologist for chronic cold urticaria for the last five years. He finally came to the realization that she not only has one rare condition, but two.

He first sent her to a pediatric cardiologist who once specialized in Dysautonomia. Five minutes into our visit the "Congenital Heart Disease Specialist" tells us that he only works with "simple" stuff and not the "complicated stuff" and he hasn't worked with Dysautonomia in ten years. He gave us a referral to Mayo in Minn. No tests were done in his office for her high heart rate and we were sent on our way.

Since then my daughter (TLC) developed Migraines, everyday. We get a referral to a neurologist. Despite having well documented information, the doctor completely puts down the concept of Dysautonomia and suggests that one cup of caffeinated tea per day and staying up one hour later on the weekends are probably what causes the pain. She sends us off with no preventatives.

Went to the ER for Migraines and the DO says that TLC is just lazy and needs to get out of the wheel chair and walk. He then proceeds to dope her up until she passes out. Also, he gives us a prescription of Doxepin to replace all the current antihistamines, diagnoses her with TMJ and sends us on our way, while having an allergic reaction to one of the meds.

Okay, my question -- How do you find and keep a good doctor? We can't even go to the pediatrician any more for a simple pain. All her issues are odd and they have no answers. Children's specialists have no idea what to do. No dysautonomia specialist in the area will see her because she is under the age of fifteen.

I refuse to give up getting the answer and a treatment that works, but every doctor visit is so frustrating.

[skiberthoud]

TLC's Mom, unfortunately I don't have anything to help. I just wanted to tell you that I'm so sorry that you and your daughter are dealing with this. I understand the frustration on a personal level - I can't imagine it if it was one of my children. Your daughter is very fortunate to have an attentive mom like you! Keep up the fight! There are many moms here that will have a wealth of information and support for you! I hope and pray that you are able to find some help and relief for your daughter. Is Mayo an option for you?

[crowebirds]

Yes, Mayo is an option; however, we cannot go there during cold months due to the Cold Urticaria. Basically, she is allergic to anything cold, including weather. We will have to wait until next summer before we can go. We live in a warm climate area; however, we are not separated from the cold. Public areas tend to over air condition their facilities which is just as bad as being up north in the colder climate. But, I have read conflicting stories about the Mayo clinic experience. Would it be worthwhile to travel so far, pay everything out of pocket? Would we come back with answer's and a treatment? Sorry to be so down, too many bad experiences. We are planning on going, but it is a long wait for her. Thanks!

[Christy_D]

TLC'S Mom,

That is a very similar story to what we experienced with my son. To get help, we found doctors in Cleveland(9 hour drive for us) to help. If you are able to travel and get the help, I would recommend it. The dysautonomia specialists at Case Western University Hospital have helped my son a lot.

FYI- my son takes Doxepin and it has helped his POTS symptoms a great deal. It took a while to find the right dose to be the most effective, but it has been very helpful.

Christy

[arizona girl]

Hi, you are right to trust your instincts and use discernment with the different doctors opinions. Finding a doctor to treat rare conditions is difficult and ER docs can have their own agenda's. Most of us here have had to go thru many doctors before finding ones that can actually help us. There are a couple of things you can do and consider while trying to find the right doctor. There is a sister web page called dynakids and a few other mom's on here that have good peds doctors. I think a lot like John hopkins for peds.

What part of the country are you in and what was the name of the rare disease your doctor diagnosed? It is very important if you haven't already that you get copies of all labs and doctors notes and get help understanding what they say. Then you decide if you thing they are accurrate, you know your child. When you do decide who is the next doctor you will see don't bring any notes you don't agree with, labs are okay to bring, they are just facts, and don't have an opinion. You want fresh eyes not ones tainted by someones else's opinion.

You said you were treating with an allergist and mentioned the recurrent infections and colds. Has you child's quantitative immunoglobulins been checked? There are primary immune illnesses that lead to recurrent infections and present with symptoms of dysautonomia. An immunologist not just an allergist and a neurologist who deals with neuromuscular autoimmune disease are the ones that know how to treat these type of conditions.

The migraines can also be a symptom of dysautonomia. You can do a poor man's tilt table test at home with a blood pressure machine, make sure you have a childs cuff on it if she is still small. Her BP/HR should be measured as soon as she wakes up and is still flat not moving around yet. Then it should be taken standing still at one, five and ten minutes. Also take it when she has symptoms when she is upright. Once you sit or lay down the bp/hr usually drop into the normal range, but there can even be dysfunction lying down. If there are any changes more the 20 points on any of the readings then there is dysfunciton there. Write down the day/time and position and keep track of it. Blood pooling in the lower part of the body can cause migraines, but so can many other things. Guess still need a bit more info from you to give better direction to go in. RateMd's is also a good site for reviewing doctors, depends on where you live. Don't give up till you know in your heart that your on the right track.

[Christy_D]

Regarding the migraines, my son experienced horrible migraines that would not go away with normal migraine medications. He was in the 6th and 7th grade at the time. The only thing that would make them go away was a trip to the emergency room and an IV of painkiller-toredol, reglan and benedryl(cocktail). Once he started on Topamax, he has not had a migraine since. He is no longer on the topamax because of the side effects and the migraines did not start back up. (Although they think his nausea might be part of silent migraines).

Christy

[juliegee]

What exactly is she DXed with......OR..... are you working on that? With all of those allergy symptoms AND dysautonomia symptoms, you must look into mast cell activation syndrome/ MCAD. On this (DINET) website, it is listed as a cause of dysautonomia. That's how I learned about it & subsequently got my DX. Check out The Mastocytosis Society Website: www.tmsforacure.org Let me know if this might explain things. Here's a link to the site that describes mast cell disorders and lists symptoms:

http://www.tmsforacure.org/mastocytosis.shtml

All the best-

Julie

[crowebirds]

I appreciate everyone?s responses. All comments have been very helpful. We live in Alabama.

TLC was eventually diagnosed with Generalized Reflex Cold Urticaria, Cholinergic Urticaria and Angioedema. She has to stay warmer than 72 degrees farenheit. She has also been diagnosed with many other conditions which are only symptoms of a larger problem.

After getting a diagnosis of possible Dysautonomia / Mitochondrial Disease and much research on both, I kept track of her vitals every morning. Her blood pressure remained normal, but her heart rate while resting would be in the 80?s, but upon standing would be anywhere between 130 and 190 beats per minute.

Other diagnoses: Poor concentration, low blood sugar, low blood pressure, low body temperature, Hypohidrosis, blood pooling in arms and legs, salt wasting, anxiety, sensitive to taste, touch and sound. She has headaches, petechia, exercise intolerance, neuropathy, asthma, migraines, acid reflux, sleep apnea, bad stretch marks and low energy. ....And others....

Although she has muscle weakness and reduced flexibility in her lower legs, she can do circus tricks with her arms and fingers which are super flexible. Because of severe pain and lightheadedness, she cannot stand for more than a couple of minutes at a time. After using crutches for a couple years, she has transitioned to a wheel chair.

She has had many tests over the last five years, all have ruled out allergies, autoimmune, thyroid, complement and vascular disorders.

We have stayed with her Immunologist because of his willingness to do the research. But, he has mentioned that he can no longer be of assistance to her and that we need to find someone else.

[juliegee]

I appreciate everyone?s responses. All comments have been very helpful. We live in Alabama.

TLC was eventually diagnosed with Generalized Reflex Cold Urticaria, Cholinergic Urticaria and Angioedema. She has to stay warmer than 72 degrees farenheit. She has also been diagnosed with many other conditions which are only symptoms of a larger problem.

After getting a diagnosis of possible Dysautonomia / Mitochondrial Disease and much research on both, I kept track of her vitals every morning. Her blood pressure remained normal, but her heart rate while resting would be in the 80?s, but upon standing would be anywhere between 130 and 190 beats per minute.

Other diagnoses: Poor concentration, low blood sugar, low blood pressure, low body temperature, Hypohidrosis, blood pooling in arms and legs, salt wasting, anxiety, sensitive to taste, touch and sound. She has headaches, petechia, exercise intolerance, neuropathy, asthma, migraines, acid reflux, sleep apnea, bad stretch marks and low energy. ....And others....

Although she has muscle weakness and reduced flexibility in her lower legs, she can do circus tricks with her arms and fingers which are super flexible. Because of severe pain and lightheadedness, she cannot stand for more than a couple of minutes at a time. After using crutches for a couple years, she has transitioned to a wheel chair.

She has had many tests over the last five years, all have ruled out allergies, autoimmune, thyroid, complement and vascular disorders.

We have stayed with her Immunologist because of his willingness to do the research. But, he has mentioned that he can no longer be of assistance to her and that we need to find someone else.

Sorry to hear of all your daughter suffers with.... I have a few thoughts that might be worth pursuing. With the hyper-flexibility and stretch marks (along with dysautonomia), I couldn't help but wonder about an underlying connective tissue disorder, like ehlers-danlos syndrome. A knowledgeable geneticist could help you sort that out.

I also have NO allergies, but still deal with MCAD (mast cell activation disorder). Don't rule that out too soon. By treating that, my dyautonomia is much improved. I still think your daughter has many symptoms that are consistent with MCAD. The way I understand it, my mast cells are simply overly-reactive to stimulus (any trigger, cold, heat, stress, etc.) causing allergy-type symptoms, like urticaria & angiodema (among others.) Once triggered, my blood vessels leak-out, causing low blood volume and other dysautonomia symptoms. By taking daily meds, I prevent that from happening. Your daughter may already be on some of those meds due to her obvious symptoms. Patients with MCAD take daily H-1's (zyrtec, atarax, etc.),an H-2 (ranitidine, zantac), an anti-leuketreine (singulair.) Some also need mast cell stabilizers like gastro-crom or cromolyn sodium. Here is a research study that links cold urticaria and angioedema to mast cell activation:

http://www.sciencedirect.com/science?_ob=ArticleURL&_udi=B6WH4-4DVNJC8-88&_user=10&_coverDate=11%2F30%2F1980&_rdoc=1&_fmt=high&_orig=search&_origin=search&_sort=d&_docanchor=&view=c&_searchStrId=1487162330&_rerunOrigin=google&_acct=C000050221&_version=1&_urlVersion=0&_userid=10&md5=99439edcdf3db39407fc2661d3876341&searchtype=a

One last thought, you mention that you THINK she has dysautonomia. With a jump in HR from 80 to 130-190, it sure sounds like she's got POTS. A good ANS doc can confirm that for you with either office orthostatic testing or a tilt table test.

I have met a subset of patients, like myself, via various forums that have both MCAD or mastocytosis AND a connective tissue disorder causing their dysautonomia.

How awful that you are losing her allergist, who's been so helpful until now. I had to travel from GA to Boston to see a mast cell specialist at Brigham & Women's to get a DX. There is a mast cell researcher, closer to you at Duke named Patricia Lugar. Here is her contact info: http://www.dukehealth.org/physicians/patricia_l_lugar

One question: Did your daughter always exhibit these symptoms to some degree? If so, that certainly does point to a mitochondrial connection. If her symptoms were following a trauma of any kind, puberty, or growth spurt, that points away from the mitochondrial etiology.

Best of luck sorting things out. I pray your daughter can get to a better place with a more effective treatment plan.

Julie

[crowebirds]

Julie - You are a wealth of information. Yes, she has had the Dysautonomia symptoms all her life. The urticaria first manifested itself when she was five or six. I will look into these links and the MCAD/MCAS over the next couple of days. I want to really look into them in detail. We ruled out Mastocytosis early on in the course of the reactions, but the doctor cannot find anything to match them to. At first glance, TLC has most of the symptoms. She is currently on several of the meds for MCAD; Singulair, Zyrtec, Zantac, Hydroxizine and Pro Air HFA.

I do have to give thanks for a great visit with the Immunologist today. He has finally accepted within his own reasoning that her symptoms go beyond the basics of Urticaria. He has agreed to continue seeing her until we find a doctor that is able to work with the Dysautonomia and other symptoms. He was able to arrange a Nerve Conduction Study (NCV and EMG, I think) to be done this afternoon. The only two things they reacted to were her cold feet (the room was 86.5 degrees) and her lack of response to stimulation of the reflexes on the knees. We will get the results later in the week. He also did some more blood work for muscle damage, immunology, and lactic acid. He was also able to arrange an appointment with a neurologist that can deal with her issues. The Nerve tests were painful and I pray that they are able to detect any issues that she has. The doctor is also adding a med for the high heart rate, I will be looking into it as well. Can't think of the name right now.

[crowebirds]

Julie -

MCAD/MCAS sounds like it fits. At my last doctor's visit, he told us that her symptoms of urticaria do not fit in any existing model. All he could tell me is that it is a Chronic Cold Urticaria. Ninety percent of her reactions occur while being exposed to cool/cold entities (air, water, metal, etc). The true form of Cold Urticaria actually happens when the area is rewarming. We know she reacted to being hot before she had to quit dancing. And, she has another trigger that we are not aware of. Add Angioedema to the list. I can find very little documentation on MCAD. I am definitely going to contact the doctor in Boston to see if I can get a response from her to see if she would be willing to evaluate my daughter.

Thank you,

Robin

[juliegee]

Julie -

MCAD/MCAS sounds like it fits. At my last doctor's visit, he told us that her symptoms of urticaria do not fit in any existing model. All he could tell me is that it is a Chronic Cold Urticaria. Ninety percent of her reactions occur while being exposed to cool/cold entities (air, water, metal, etc). The true form of Cold Urticaria actually happens when the area is rewarming. We know she reacted to being hot before she had to quit dancing. And, she has another trigger that we are not aware of. Add Angioedema to the list. I can find very little documentation on MCAD. I am definitely going to contact the doctor in Boston to see if I can get a response from her to see if she would be willing to evaluate my daughter.

Thank you,

Robin

Hi Robin-

I'm sure that Dr. Marianna Castells (Brigham & Young) will be happy to evaluate your daughter. It is hard to find info about MCAD/MCAS, but she is one of the most knowledgeable mast cell experts in the world. For more info, check out the Mastocytosis Society website: www.tmsforacure.org There is also a relatively new site called "Mastopedia" that has links to a forum. Here is a link to another Mast Cell Disorder Forum that's very helpful, but has a rather disorganized format: http://mastcelldisorders.lefora.com/

The World Health Organization is actually meeting in Vienna NOW to hammer out standardized diagnostic criteria for MCAD/MCAS. I am hopeful that it will be easier to find help once that is established.

Your daughter is already on many of the meds that will be prescribed for her- so was I before I got the DX. I did notice that she's not taking a mast cell stabilizer. Perhaps gastrocrom or cromolyn sodium will be her missing link. I pray you find a regimen that helps her get to a higher level of functioning. Let us know what you find out.

Hang in there-

Julie

[kjd111]

Robin,

My 15 year old daughter also has autonomic dysfunction - not POTS but probably NMH. Low catecholamines. She has a terrible time with angioedema - from her mid thighs on up. Can you describe what your daughter's angioedema is like? I'm interested because we, too, are going to be looking into the MCAD piece of this. She has a tremendous number of allergies and has started to break out in some sort of rash when she is upset or tired. But the water retention/angioedema has been the worst part.............

[crowebirds]

Sorry for the delayed response. Angioedema for my daughter consisted of wheals on her legs and arms that are inconsistent in size and shape. They do not hurt, burn or itch, they are just there. They remain for as long as two or three days. Afterwards, there is deep tissue scarring; what looks like water rings on the coffee table. These may last upto a week. I do not believe the angio is related to the cold as is her regular urticarial reactions. Most of TLC's urticarial and angioedema reactions are on her extremities and rarely are on her trunk.

[britishangel6]

First I'm sorry if I repeat what someone else said, I didn't read every response in full. In regards to getting answers for a dysautonomia, Vanderbilt in Nashville would be closer than Minn. I don't know if they see pediatrics but they have an autonomic dysfunction clinic. I found them helpful for my POTS but MCAD/MCAS is admittedly more complicated. Can't her allergist test for it? Or a local immunologist? Even if Vandy can't see her the clinic may be able to recommend a pediatric specialist to see her. I hate to hear you've had such trouble and have to pay out of pocket but spending that money to help her will certainly be worth it. Let us know how she's doing.

[comfortzone]

It's a long shot - but are any of her afflictions an inherited disorder? If they are/were - or end up being so ... a geneticist might be helpful. Dr. Brad Tinkle works out of Cincinnati Childrens Hospital and is about the best doctor out there for inherited connective tissue disorders like EDS and all the others. He is amazing and smart and compassionate. You just may want to shake things up a bit if you think any of this type set of symptoms is being passed on from one generation to the next - by getting a highly skilled competent Genetic Doctor. Their bread and butter is all the complicated stuff, all the rare stuff - and often they come to it through a pediatric population -- yet there are good adult geneticists out there as well such as Dr. Francomano in Baltimore.... anyway blessings to you and your family.

[crowebirds]

First I'm sorry if I repeat what someone else said, I didn't read every response in full. In regards to getting answers for a dysautonomia, Vanderbilt in Nashville would be closer than Minn. I don't know if they see pediatrics but they have an autonomic dysfunction clinic. I found them helpful for my POTS but MCAD/MCAS is admittedly more complicated. Can't her allergist test for it? Or a local immunologist? Even if Vandy can't see her the clinic may be able to recommend a pediatric specialist to see her. I hate to hear you've had such trouble and have to pay out of pocket but spending that money to help her will certainly be worth it. Let us know how she's doing.

Her Immunologist has tested her over the last 4 1/2 years for nearly everything, even genetic testing. Unfortunately, her symptoms don't match any existing condition. I am doing what I can to research the MCAD/S to see if she can fit into that picture, but unfortunately there just isn't enough research available on it as of yet. Of course every time there is a new "major" symptom, our focus is shifted away from the urticarial aspect of it all. For the last month her newest symptom has been migraines. She has woke up everyday this week with one. We are looking at going to another facility such as Vandy or Mayo in Jacksonville; however, we have asked her doctor to do more testing for Dysautonomia before we go anywhere. There are many tests that could be done closer to home before going out of state and paying out of pocket.

[DIXZELAND]

My 12 y/o daughter has seen an allergy/immunologist for chronic cold urticaria for the last five years. He finally came to the realization that she not only has one rare condition, but two.

He first sent her to a pediatric cardiologist who once specialized in Dysautonomia. Five minutes into our visit the "Congenital Heart Disease Specialist" tells us that he only works with "simple" stuff and not the "complicated stuff" and he hasn't worked with Dysautonomia in ten years. He gave us a referral to Mayo in Minn. No tests were done in his office for her high heart rate and we were sent on our way.

Since then my daughter (TLC) developed Migraines, everyday. We get a referral to a neurologist. Despite having well documented information, the doctor completely puts down the concept of Dysautonomia and suggests that one cup of caffeinated tea per day and staying up one hour later on the weekends are probably what causes the pain. She sends us off with no preventatives.

Went to the ER for Migraines and the DO says that TLC is just lazy and needs to get out of the wheel chair and walk. He then proceeds to dope her up until she passes out. Also, he gives us a prescription of Doxepin to replace all the current antihistamines, diagnoses her with TMJ and sends us on our way, while having an allergic reaction to one of the meds.

Okay, my question -- How do you find and keep a good doctor? We can't even go to the pediatrician any more for a simple pain. All her issues are odd and they have no answers. Children's specialists have no idea what to do. No dysautonomia specialist in the area will see her because she is under the age of fifteen.

I refuse to give up getting the answer and a treatment that works, but every doctor visit is so frustrating.

[comfortzone]

Hmmm... well for what it's worth -- lower limb weakness and excessive flexibility in arms is a pretty common finding in Ehlers-Danlos and Hypermobility syndrome - which is an inherited connective tissue disorder - that is best diagnosed by a geneticist (rather than an immunologist) -- I know you are trying very hard to get your answers promptly - your diligence will pay off in time -- I sympathize and empathize with your situation ... but I just bet you are getting closer through the helps here and your perseverance... blessings.

[crowebirds]

Doctor's nurse called today and gave us the test results from our last visit, all were normal. Then she said to cancel the follow up appointment, there was nothing more he could do for her. :0(

We are still waiting to see another neurologist at UAB and will ask to see a geneticist. Here we go starting over. So frustrating.

[sue1234]

I can well empathize with what you are feeling right now! Have heard the word "normal" too many times. I have learned to just get back up and start looking around again--there has got to be SOMEONE out there that can help. I just haven't found that person yet.

[crowebirds]

Hmmm... well for what it's worth -- lower limb weakness and excessive flexibility in arms is a pretty common finding in Ehlers-Danlos and Hypermobility syndrome - which is an inherited connective tissue disorder - that is best diagnosed by a geneticist (rather than an immunologist) -- I know you are trying very hard to get your answers promptly - your diligence will pay off in time -- I sympathize and empathize with your situation ... but I just bet you are getting closer through the helps here and your perseverance... blessings.

Thank you!

Getting up, brushing off, remaining faithful.

[issie]

Hmmm... well for what it's worth -- lower limb weakness and excessive flexibility in arms is a pretty common finding in Ehlers-Danlos and Hypermobility syndrome - which is an inherited connective tissue disorder - that is best diagnosed by a geneticist (rather than an immunologist) -- I know you are trying very hard to get your answers promptly - your diligence will pay off in time -- I sympathize and empathize with your situation ... but I just bet you are getting closer through the helps here and your perseverance... blessings.

I second this thought because I have EDS too. The hypermobile form of it CAN NOT be tested with gentics, yet. They base it on symptoms and flexibility testing. I also developed the stretch marks at a very young age and also real bad near sightedness. All are symptoms of EDS. Which in turn can cause allot of her issues. Be sure she is having as much full body compression, support as possible. It helps the blood and oxygen flow and helps with the dysautonomica issues. I too, have symptoms of mast cell with this.

Issie

[crowebirds]

Okay, only God gets credit for this.

Several people I know found an article about a lady in our area who has lived with one of the most severe forms of DYS. In talking with her online, we were able to find a doctor that will diagnose/treat children. I made contact with them and they are interested in seeing her. They will review her records and determine at that point if she will be accepted as a new patient. If she is, she can get an appointment as early as next month.

Please keep her in your prayers that she will be accepted.

[juliegee]

Woo hoo- prayers on their way! What a blessing to have a local doctor who can help you navigate this. Let us know if she gets in!

Julie