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anhidrosis and a raft of other oddities

Nan
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My 19 year old daughter cannot sweat - nor has she since birth. She tires easily and has unexplained fevers and aches and pains in her joints that come and go in clusters. We've been to every "ist" (specialist) they could refer her to.

Her ANA levels have, over several years, been running at (sorry if this isn't exact, I don't remember precisely anymore) greater than 1:1280, although her last one last year was 1:640. I'm told they are very high, but nobody knows why. She's had many, many blood panels done and nothing shows up out of the ordinary except the ANA.

The only thing wrong with her heart is a "delayed systolic ejection click".

Her teeth and hair are perfect - or nearly so. Her hair is very thick, although sparse everywhere but on her scalp. She's got a full set of very strong, perfectly formed teeth. She can't tolerate being in the sun for any great length of time or she feels like she's coming down with a cold (as do I). bright lights hurt her eyes and loud sounds startle her (and always have) more than a "normal" kid. She has always seemed hyper (not hypo) sensitive to pain. She has dermatographism (I think I've got that right - we can play tic-tac-toe on her leg by rubbing our fingers on it to raise welts. They've looked for Lupus and other similar illnesses, but say they are highly unlikely.

This summer she was diagnosed with Type II diabetes, and has managed to control her blood sugar levels with diet and exercise. She's shorter than we expected her to be, and has been a little heavy, but is now coming in line with what she should be weighing.

She almost had a heatstroke yesterday, while at a group function in a rural area. During warm weather she is prisoner in an air-conditioned room or car. We don't dare travel during the day in case the car (which is a little '"iffy") breaks and we lose the air conditioning. During times of rolling power blackouts we have to have a supply of cold water and ice packs ready to make a run for a cooling center elsewhere in town. It's quite frightening.

All the specialists (neurology, rheumatology, dermatology, Fabry's, mitochondrial researchers, geneticist, endocrinology, etc.) cannot seem to put a name on this and say it's not in their area of research. Then they refer us to someone else who says the same thing. The last one, the third rheumatologist to whom she was referred, told us that , whatever it is, there won't be a treatment because it's so rare and to just learn to live with it. I'm concerned that the other cosmic shoe is still out there waiting to drop - that there's something we should know about now so as to prevent worse problems later.

Has ANYONE any experience with the above? Help! We've been trying for over 5 years to find out what's wrong. We live in the Southern California area.

Thanks

Explore topics in this discussion:

Exercise High cholesterol Surgery Dry mouth Pregnancy Probiotics TRAPS Lupus Anhidrosis Fibromyalgia Epilepsy Pituitary tumor Stress Asthma Fever Diabetes Anemia Hypertension ALS Dysautonomia Myasthenia gravis Albinism Tylenol Fabry disease Erythromelalgia Eczema Hypotension Osteopenia Scleroderma Rheumatoid arthritis Dehydration Plague Arthritis Sweating Rashes Pain Rare diseases Ear infections Cystic fibrosis

39 replies

engage

Has she actually been tested for Fabry Disease?

Nan

Hi. Yes, actually that was one of the first guesses. She fits so many of the criteria that it jumped out of the research searches like a red flag. But we worked long-distance with the Fabry center at Mt. Sinai in New York - FedExed vials of blood to them, even. They said her level of galac.A enzyme was low, but it was there. So she couldn't have Fabrys. They also looked at both my and her blood for a genetic mutation. Or, rather, we sent blood for them to do so. I think they looked at mine and found nothing, so did not test hers saying if I didn't have it she couldn't. It's been a few years, and I may be remembering wrong. But I think that's what they said. No.

We also had an opthamalmologist (sp?) look at her eyes carefully. There is adequate tear production, she is hypersensitive to light, has no problems with her corneas or retinas, has a lot of "veils" in her eyes, but nothing else out of the ordinary. She has better than 20-20 vision.

Other things. The skin on her feet - it tends to be very thick - it used to crack and bleed on her all the time when she was taking dance class no matter what creams or treatments she used. And her joints are unusually flexible. She's not so hypermobile that she can do freakish things, but yoga comes very easily to her. And neither of us get sick very often. Once a year with a cold, maybe. But gut things, well, we feel like the immodium company should make us honorary stockholders. And sinus infections and/or headaches. We both have tons of them every year, and when she was a young child she had almost constant ear and upper-respiratory infections (as did I at that age). She's pretty much grown out of them. Had the first ear infection for several years a few months ago.

I have a sister who had some weird health things - she was highly allergic to jewelry, I remember that if she wore anything but white gold her skin would redden and blister. And if she put her hands in dishwater with soap in it her hands would crack and peel awfully, just from a dip in the water. She was extremely hypermobile - took great joy in freaking people out by bending her hands almost all the way over backwards, etc. She had very white, chalky teeth that were full of cavities by the time she was 12 - my folks gave her hell for that, I remember. Neither I nor my daughter have got those kind of teeth - we've got yellow, strong ones.

I keep thinking maybe it's one of the ectodermal dysplasias, but the dermatologist said no....

caringcounterparts

Discovery Health channel has a TV show called "Mystery Diagnosis", and one of their stories was on a man who went for years with a multitude of symptoms, all because he could not sweat.

Here's the description:
The Man Who Never Sweats
Since childhood, Scott Gober battled an array of symptoms - severe joint pain, strange rashes, and an inability to sweat.

I don't remember what the condition was, but they described the treatment he received, and stressed that this was a VERY IMPORTANT to get appropriate medical care.

I'd highly recommend it - I'm sure it will be validating as well as informative. It will next be on the air on Oct 30 at 10 pm ET, Oct 31 at 1 a.m. ET, and Nov 5 at 6 p.m. ET. Here's the link: http://health.discovery.com/tvlistings/episode.jsp?episode=14&cpi=1122 61&gid=...

I would also go to www.uptodate.com and pay the $20 or so dollars for a week's subscription. You'll find excellent information there that will help you ask the right questions and know if your doctors are on the right track. You can even print out the articles and take them with you to appointments or send them to doctors.

Here is a snippet from a journal article I looked up for you:
The prevalence of Fabry disease is probably underestimated given incomplete ascertainment. This is likely since [14,16]:

-The manifestations of the disease are nonspecific
-The diagnosis is often not considered by physicians given the rarity of the disease
-The wrong diagnosis is often made initially. As an example, in the 366 European patients with Fabry disease participating in the Fabry Outcome Survey, the mean delay to correct diagnosis after symptom onset was estimated to be 13.7 and 16.3 years for males and females, respectively [16].

http://www.medlineplus.com is another excellent resource. Here is a link that should help you confirm whether it's Fabry's:
http://www.ninds.nih.gov/disorders/fabrys/fabrys.htm

Just from a quick review of the literature, as one patient to another, if your daughter does not sweat, Fabry's seems like an important path to pursue. Here's a link a Fabry's support group: http://www.fabry.org/FSIG.nsf/Pages/Fabry. There's a good article from Emory University on Fabry in women here: http://www.fabry.org/FSIG.nsf/Pages/Links as well as links to clinics and doctors.

I would suggest making a list of all symptoms associated with Fabry's, and putting a checkmark next to each one your daughter has. That will help you, and the doctors, make a diagnosis.

Some doctors tend to rely heavily on test results -- if they're not hearing you, find others who will...

I hope this helps - please let me know what you find out...

Ellen
Caring Counterparts: A non-profit organization of patients helping patients with long-standing, unresolved or complex health conditions through research, analysis, documentation and training.

Nan

Thank you for your post and for all that information! The Fabry Disease Research Center at Mt. Sinai did an exam of our DNA and said my daughter does not have the mutation for Fabry Disease. It must be something else, although it shares some very similar symptoms.

caringcounterparts

I did read that in your previous posts, and I realize that it's possible she has something else... But it's also possible that the test should be repeated...

When I diagnosed myself online, after 25 years of symptoms, with Cushing's Disease (1-2 people per million per year get it), I thought that now that I knew what I had, getting the doctors to treat me would be easy. But even though I had 49 of 54 symptoms and had all the physical appearance traits of someone with Cushing's, the Director of the Division of Endocrinology at Shands in Gainesville told me I didn't have it based on test results. I kept going to see him, and he kept testing. I spoke with the neurosurgeon there, and he didn't take me seriously either. I should have given up -- but something told me I was right. It wasn't until I found a doctor at Cedars-Sinai in Los Angeles who deals with Cushing's patients all day long every day that I found out that it's possible to have pseudo-Cushing's -- all the symptoms, without the test results! And that only certain labs can be relied on to do the tests right, and even then they're unreliable. I had surgery to remove the benign pituitary tumor that was causing my symptoms, and I'm slowly getting better.

You might consider researching the reliability of the test for Fabry's (http://www.uptodate.com is a good resource) and read other people's stories about getting tested... You might also find a doctor who is treatment oriented versus diagnosis oriented -- he/she may have insight for you.

All the best,
Ellen

caringcounterparts

This may be helpful for you to take with you to the doctor:
http://patients.uptodate.com/abstract.asp?TR=renldis/22850&viewAbs=6~4 3&title=6,43

"At risk female relative of an affected individual, a female with a family history of Fabry disease, or a female with symptoms suggestive of Fabry disease. When testing women, the high false negative rate of alpha-Gal A testing in female carriers must be recognized [6,43]. There should be a low threshold for genetic testing given the high variability of enzyme activity level."

Has she been tested as a "symptomatic carrier female"? She may have all the symptoms without the positive test result, and may respond well to treatment...

Ellen

Nan

Ellen - Hi. Yes, as stated above, an examination of our DNA was done to look for the mutation that causes Fabry's. It's not there. The consensus among the Fabry's experts, including those at the Fabry Disease Research Center at Mt. Sinai, is that she does not have Fabry's. We've been well down this road already, but thanks for writing. - Nan

caringcounterparts

If you think it would help, you might want to contact Dr. Joan Stoler at Massachusetts General Hospital. She's a clinical geneticist who was able to diagnose a young boy when noone else had been able to...

hkirkwood

This is just a thought. I know nothing about Farby, or the other syndromes mentioned. But, in the Hermansky-Pudlak Syndrome community we're having a problem with people having all the classic signs of HPS and yet when tested they're told they do not have HPS.

Sometimes the problem is that with these rare disorders, the scientists really just don't know a lot. They're working with a diagnosis definitiion based on the limited number of patients they've seen - but that doesn't mean there isn't more out there for them to learn.

HPS is currently diagnosed as albinism with a bleeding tendency caused by a lack of delta dense bodies on the blood platelets - they look at the platelets and if there are no delta dense bodies - presto - it's HPS. But, we've got a growing pool of people, who when you dig a little deeper into the diagnosis, you discover yes, they've got some dense bodies, but not the right number. They've got many, if not all, of the other HPS complications. So, do they have HPS? There are very likely other HPS genes that haven't been found, and perhaps with another gene mutation there are dense bodies present only not in the right numbers. Maybe the docs will have to rewrite their definition as they learn more. Could it be the same thing going on here? Could it be a form of Farby or something else that is just a mutation they haven't documented yet?

I'm not sure it's a helpful thought, but it's just a thought.

I hope you find some answers. I know how frustrating it can be to search and search and feel like you're not getting anywhere.

Nan

Hi - Yes, it is incredibly frustrating, especially when dealing with a HMO. We had one incident where the specialist doctor to whom we were referred was out of the organization. They (the HMO) allowed one visit, as they had nobody in the organization who was qualified to deal with this. That outside doctor ordered specific tests at his organization's lab. (Children's Hospital in San Diego.)

We had them scheduled for a month, then the day before we were to go we got a phone call saying the HMO was denying them, that we had to use the HMO's lab. They rescheduled us to the HMO lab, and a week before the appointment the lab called to ask what the tests were to be. I referred them to the specialist and gave them his phone number. They said they couldn't call the specialist, as the specialist was out of the "network" and we'd have to arrange to get it taken care of.

So I called my daughter's then primary care doctor, explained what was going on, and asked if she could please find out what the specific tests were and see that the orders were sent to the HMO's facility. She said she would. I should have known better, as this was the woman who told us, without bothering to read her charts first, that my daughter was "dehydrated" every time we came into the office complaining that the kid could not sweat and was having semi-heatstrokes, even when we knew better and the child had just had a quart of water and had a water bottle in her hand while talking to the doctor!!!!. (Arrgh!) I lost track of the times she told us that, and I'm afraid I was not very pleasant to her the last time she did so. (She is no longer her doctor.)

Well, somewhere in the transition the lab tests that were ordered to check the kid's pulmonary function were changed to something vaguely similar, but not the same as what needed to be done. I told the lab attendant when we got to the HMO's lab that he was setting up for a test other than the one I was told she was to have. He said "well, that's what's on the orders." I asked if he could please call and check, and he said no, he could only do the ordered tests and didn't have time to call, as he was so backlogged. (I'd have believed that, we had waited hours past our appointment time to see him.)

So, they did the wrong test. Not only that, they would not send the results to the out-of-network doctor! When we finally got a copy of the results ourselves (paying for the copies), we mailed it to the specialist. He was kind enough to email us and say that they were idiots over there at the HMO/lab. (Which we know very well.) It's been that over and over and over....

As to Fabry's: Really, she's seen a few good specialists and they don't think it is Fabry's. The DNA break is not there and there is no family history whatsoever as far as we can find on either side of her family line. The folks at Mt. Sinai even did the testing for us for free - all we had to do was get blood drawn and FedExed to them, since the HMO wouldn't pay for that. It's always possible, I guess, that she could have some previously unknown variety of Fabry's, but from what I've read (and I've read a lot) there are other things it could be that are, given the history and the tests already done, potentially more promising avenues to explore.

The current diagnosis is ideopathic dysautonomia, as the geneticist (who is a good one) thinks it's her nervous system that is not functioning correctly. She's hypersensitive to light and sound, as well as pain (not insensitive - extra sensitive). She is tired a lot of the time, for no apparent reason. Her joints hurt now and then, and she has odd muscle pains. Her feet and hands get very cold - not painful, but cold - at all times of the year, spontaneously. They feel like they've been in ice water. She has unexplained fevers, often at night. Sometimes I go into her room at night, when she's asleep, and she's burning up hot. I used a thermometer-strip on her a couple of times and it was over 101F. How that all ties in to the high ANA, I don't know.

Perhaps we have more than one thing going on - it's always possible, I guess. There's something not quite right with her blood pressure, but it's not an "always" thing. She hasn't quite got POTS, but there were periods of several months at a time when she would suddenly get very faint even while sitting or laying down, for no apparent reason. She hasn't had one of those in over a year, so we're hopeful it was some sort of transient, hormonal thing. They have also labeled her has having benign hypermobile joint syndrome. Plus, now she's got type-II (or something similary) diabetes at age 19. (That, at least, DOES run in the family - just not previously in anyone this young.)

All of this, along with my sister's skin and connective tissue issues, leads me to think that we probably should be looking more into one of the ectodermal dysplasias as well as thinking along the neurological lines. We saw two dermatologists, but one seemed to only know about hypohidrotic ectodermal dysplasia, as she kept saying it couldn't be ED since the kid's hair and teeth were fine. The other just examined her skin and hair, and said her skin was very dry (we've gotten that word at ever well-baby checkup since she was born!), but he didn't see anything unusual. It was only later that I found out that there are over 150 varieties of ED and that the "hair and teeth" thing one is only one of them. They painted us both up with iodine and corn starch, put us in a hot room with the heat on full-blast, and had us exercise. I was sweating like a pig (and a mess from the iodine) at the end. The kid had a very light trace of sweat under her arms only, nowhere else.

My daughter has had it with doctors and is in a period of not wanting to go to see any of them ever again. I'm letting her cool off a bit, and, if we ever find an avenue of exploration to explore that the medical insurance program will allow us to explore, I'll broach the subject with her then. She can't wait too long, as she will roll off my insurance when she turns 23, and she'll have hell getting any insurance on her own unless it's through an employer after that due to all this.

Thank you for taking the time to write. Frustration is not nearly a strong enough word, but anything more ventures into obscene language.

caringcounterparts

What a difficult journey you and your daughter have been taking... She's very lucky to have you.

I had a couple thoughts in case they might help...

With the Type II diabetes, fluctuations in symptoms including joint pain and temperature, and blood pressure it sounds like she definitely has something hormonal going on, even if it's overlapping with something else. It's possible the autoimmune is effecting her endocrine system... It seems like the ANA is the key to it all, especially because it's so high.

Myasthenia Gravis would explain quite a few of the symptoms you're describing, and it's possible for a baby to be born with it, especially if the mother has it.

Here's an article: http://patients.uptodate.com/topic.asp?file=muscle/12668&title=Neonata l+Myasthenia+gravis

There is a subtype of Guillain-Barré Syndrome called "Acute panautonomic neuropathy" that seems to have quite a few of the symptoms you described:

-Sympathetic, parasympathetic nervous systems are involved.
-Cardiovascular involvement is common (postural hypotension, tachycardia, hypertension, dysrhythmias).
-Blurry vision, dry eyes, and anhydrosis
-Often combined with sensory features
-Rarest of all the variants

Here's the article: http://www.aafp.org/afp/20040515/2405.html

Ellen

Nan

Hi Ellen. I've looked over the information you sent on GBS, and done some other research. Thanks. It seems, from all the literature, as if the GBS is typically brought on after an infection. I remember being diagnosed with it myself, about 25 years ago. It resolved on its own, if that was actually what I did have. It came on after a bout of mononucleosis.

My daughter was born with her inability to sweat. All the pediatricians noted her skin was very dry at every visit - we spent a small fortune on creams and lotions. I remember one doctor accused me of not using them on her after he'd recommended them. (I was soooo mad about that!) I also remember that, when she was a very young child, there was one place, just a tiny place about the size of the little round things on the top of hemming pins, on front of her neck where she would get a little blister. It would pop, then come back later, over and over, for years. Full of clear fluid. It's been gone since she was an older child, but I suspect that it may have been a spot where some of her sweat glands (assuming she has them) functioned under the skin surface and the sweat was trapped to form the blister.

I think that the optimal thing would be to get a skin biopsy done, to see if there even ARE sweat glands present, if they're normal or abnormal, or if there's something that can be seen from that. To get this done, we'd have to go back through her primary care doctor for a referral to a dermatologist and a wait of a few months. Assuming the HMO would approve the procedure. Problem is, the kid is now so burned out and thinks that almost any medical professional is an idiot. So she won't consider this option. Plus, she's hypersensitive to pain and is afraid of it hurting. If they take it from her hand, as was suggested once a long time ago, I'm sure it would hurt. Perhaps they could do it off her arm or somewhere less sensitive. If there were no sweat glands, or they were abnormal, that would certainly narrow down the diagnosis. If they were there but just not functioning, at least we could rule an entire class of conditions out.

But, since she's no longer a minor, I can't make anything happen. I can't even get access to her medical records anymore without a written statement from her. (She's 19.) I guess I'll just go beat my head on the wall some more and wait until she decides she wants to explore this further. She can be on my insurance for a couple more years. After that, I have no idea what she'll be able to do unless she lands a good job with a company that provides health insurance.

Nan

A few last things, in case any set off any alarm bells for anyone. Salt. The kid used to crave salt. She'd pour it in her hand and lick it up. She still pours massive amounts in her ketchup (uses ketchup as the mechanism to hold the salt) for her french fries, when she has them. She's not as tall as we thought she'd be (only 5'4") and has huge feet (women's size 10 - same as mine, and I'm 5'11"). I don't know if her adrenal functioning has been tested - will check. I've always wondered if her growth was stunted a bit. She was 6lbs, 8 oz at birth, but always above the 95% in height and weight as an infant and toddler. She started lagging behind her friends at 8 or 9 years old. She doesn't appear unusal - but she's short given the rest of her family. It may be nothing, really - her father's parents are about that size, although neither he nor I (or anyone in my family) is shorter than 5'9".

I am curious if, with all of the above, anyone's run across anything like this before. The HMO is balking at further testing, and I'm not sure it's not better that she not be treated for anything/tested for anything for a couple of years, so when she goes off my insurance she will be in a better position to get insurance of her own. They seem to have caveats in their coverage that indicate that if it's been a while since peoples' conditions have reared their ugly heads, they are coverable.

The only other things I can think of that haven't already been mentioned: The kid was sick a lot with upper respiratory and ear infections as a baby. She had almost constant ear infections. She, thankfully, has grown out of them. Also, I was sick as a dog during my pregnancy. As in vomiting every 45 minutes, round the clock, for two to three months. I lost 40 pounds (which I gained back during later months). I couldn't even keep water down. It was NOT pleasant. The OBGYN I had at the time didn't speak English very well, I think, because I could not seem to communicate to her the seriousness of this problem. She would just say "well, every pregnancy is different. Your body is just reacting oddly to it." Since then I've spoken to other GYNs and they were horrified that I was not hospitalized. I've always wondered if that and the problems my daughter now has are related somehow.

Nan

UPDATE - The kid is having trouble regulating her blood pressure now, sometimes, and two years ago had a seizure that we think was caused by a drop in blood pressure causing lack of oxygen to the brain. It comes and goes, and the seizure aura (she had a "pins and needles" sensation that turned to "stinging wasp" sensation over much of her body before seizing) has only partially come back once or twice since then - if she lays down, it goes away without seizure following. She's managing her diabetes, but has developed high cholesterol, which is being medicated. Bicycles 8 miles a day on a stationary bicycle under an air conditioner, but cannot walk a half mile on the treadmill without becoming dizzy. She is having trouble now staying warm, as well as the anhidrosis and heat intolerance. We think she's also starting to have migraine auras (I have them), but not migraines. We suspect she might be having some other neurological things happen, that play with her mind/senses, but can't prove it. The kid has had some problems with "brain fog" from time to time and has lost her first "big" job because of it. We have to do something - she can't get hired because of the things she can't do, and now a "fired" on her resume because of a health thing. She still won't have any insurance in a year because the govmt doesnt' consider her disabled enough to not work, yet she can't work because nobody will hire her because of her health condition. Which we don't even know what it is!!!!! On the gloom side, I just found out I had a cousin who died from ALS. She was 60-ish when she died and apparently it happened in just a few months from diagnosis. I have to wonder (and pray not) if this is related to what the kid is going through? Or if the diagnosis they put on my cousin was inaccurate, but reasonable given the symptoms (it's been a few decades, diagnostics weren't as specialised then).
She is due to see a leading mitochondrial disease/endocrinology expert in a month or so. We hope he can tell us something. We've been trying to find out for such a long time, and more things just keep creeping out of the woodwork to plague her while we wait for someone to identify what's going on.

Nan

Oh, and we did double-check on the Fabry's again. She and I both have the alpha-galactosidase-A. enzyme in our blood, and the genetic markers are not there. The second opinion is that it's highly unlikely that it's Fabry's, but more likely to be "neurometabolic" and related to a mitochondrial malfunction. We're pursuing that at present.
On the bright side, I now have a rather sturdy education in rare diseases, having read extensively about a wide number of them for at least half-a-dozen years... :(

nettiemae

Another term for this may be cholinergic urticaria. I have not been able to sweat properly for years. Very intolerant of heat. So I used to hide from the sun, lather on the sunscreen, stay inside. Had very bad eczema, rashes, thickened skin, always felt inflamed. This spring I got rid of recurrent skin infections (staph in ear) by applying fresh garlic to the infected skin, rinsing with vinegar/rubbing alcohol. Then taking probiotics to replenish digestive flora to aid in regular bowel movements. Also I stopped using sunscreen, I think it was exacerbating the no-sweating because it would seal everything in. I had been using mineral based sunscreens because I was allergic to chemical based ones. My skin would be white for weeks from the titanium/zinc not washing off. I slowly exposed my skin to more and more sun. I think the sun or Vitamin D is necessary for proper health and I wasn't getting it. Vitamin D deficiency may be related to the diabetes. Also I started using Cerave, which supplies necessary ceramides to people who have eczema and don't produce it on their own. Good luck.

Nan

Hi Nettiemae. Thanks for writing. The kid has never been able to sweat. Not ever. Not even as an infant. She has no rashes. She gets plenty of vitamin D from her milk intake (she loves milk and always has). She does not feel inflamed, itchy, or otherwise uncomfortable from her skin. She's lucky in that she is almost never ill, & never has infections. The only place she has thickened skin is on her feet, where she gets the most amazing calluses that we have to scrape off weekly. Her foot skin cracks and bleeds if she does have calluses and if she does NOT have calluses there, at all times of the year, regardless of moisturizer use. So I don't think it's what you had, but do appreciate your taking the time to suggest that. On sunscreens, Walmart has one that's in an aerosol spray, SPF 80. Can't remember the brand, but it goes on very light and even. Perhaps you can use that? Good luck. - Nan

Nan

Ok, we've got a mitochondrial dna test back with some odd results. They (the HMO, et.al.) are trying to figure out how to send a sample to Baylor to get the mutation analyzed (but are having problems as there's apparently no CPT (CTP?) code for what needs to be done and "the system" can't handle that). Anyway, there is a mutation at mtdna 14688 producing threonine (sp?) to alanine. I can't find anything in PubMed or any of the other academic databases about this particular bit of DNA and what it does, or what the change in the amino acid would mean. It looks like it's going to take quite a while for the HMO to get the paperwork straightened out and I may eventually have to fight for further testing, so it would be really, REALLY helpful if anyone has ever heard of this or what it might possibly mean? All I'm getting is "let's look at this further, we need to have a thorough exam of that DNA before we know anything" but they're not even giving me a hint of what they suspect (if anything). We've been hanging in the breeze for almost two months now over this last bit of info.

bonnielynn

A friend of my mother's has the following disease. 50% of the time this disease is accompanied by another autoimmune disease like RA, Lupus etc. Have you considered this one - since there is a pill your daughter could take and the symtoms are treated.

Sjögren’s syndrome is a chronic autoimmune disease in which people’s white blood cells attack their moisture-producing glands. Today, as many as four million Americans are living with this disease.
Although the hallmark symptoms are dry eyes and dry mouth, Sjögren’s may also cause dysfunction of other organs such as the kidneys, gastrointestinal system, blood vessels, lungs, liver, pancreas, and the central nervous system. Patients may also experience extreme fatigue and joint pain and have a higher risk of developing lymphoma.

With upwards of 4,000,000 Americans suffering from Sjögren’s syndrome, it is one of the most prevalent autoimmune disorders. Nine out of 10 patients are women.

About half of the time Sjögren’s syndrome occurs alone, and the other half it occurs in the presence of another autoimmune connective tissue disease such as rheumatoid arthritis, lupus, or scleroderma. When Sjögren’s occurs alone, it is referred to as “Primary Sjögren’s.” When it occurs with another connective tissue disease, it is referred to as “Secondary Sjögren’s.”

All instances of Sjögren’s syndrome are systemic, affecting the entire body. Symptoms may remain steady, worsen, or, uncommonly, go into remission. While some people experience mild discomfort, others suffer debilitating symptoms that greatly impair their functioning. Early diagnosis and proper treatment are important — they may prevent serious complications and greatly improve a patient’s quality of life.

Since symptoms of Sjögren’s syndrome mimic other conditions and diseases, Sjögren’s can often be overlooked or misdiagnosed. On average, it takes nearly seven years to receive a diagnosis of Sjögren’s syndrome. Patients need to remember to be pro-active in talking with their physicians and dentists about their symptoms and potential treatment options.

Since the disease was first identified in 1933 by Dr. Henrik Sjögren, it has been proven to affect virtually every racial and ethnic group. General awareness about Sjögren’s syndrome is still lacking and increased professional awareness is needed to help expedite new diagnoses and treatment options.

Nan

Hmmm, they've looked at that before, but told us it was unlikely. Perhaps there's some more exact test that could be done that would give a more definitive answer?

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