Have All The Symptoms For 50 Yrs - Have New Diagnosis - Ucd With Cint

[UCDSurvivor]

Please Note: I meant to say MYCeliac Intolerance etc. is part of UCD. Is not the same for everyone.

I have had all the symptoms related to celiac disease/intolerant since I was a baby. Gastro, Neurological, ...you name it, I have had it or have it. Endometriosis -- 8 miscarriages, throwing up after eating -- doctors telling mom it was food allergies; mom would remove that food but other symptoms would be there too.

Have restless legs, migraines (several types with full blown auroras), tinntinitis (sp?), naseau, sleepies, sleep apnea, allergic reactions, sores on skin with white discharge (not pus). Have broken both ankles, feet, lots of toes, and one arm. Memory loss that would come and go. Tested very high IQ for years but started losing math concepts.

GI problems. Major constipation, severe spasms. Meat made me ill. So did breads. But I could not loose weight no matter what I tried. Every time I exercised I became ill. At first doctors did not believe me. Then it baffled them. I was diagnosed with chronic fatigue and fibromyalgia. I knew they were only symptoms not the root cause.

I found all the celiac information. I tried going gluten free. Well that helped some. Even my employees said there was an improvement in my personality. I could not figure out why. I paid for the blood tests for Celiac my self. It was negative. So I went back to eating gluten and making myself sick. Convinced doctor to do the Upper GI and biopsies. It was negative except for barrett's disease. Finding that out left me totally distraught. But I went back to gluten free -- some symptoms improved.

Yet my eyes would roll back in head. I would go away when people were speaking. Could fall asleep sitting at my desk. I was seeing a neurologist, internist, GI specialist, infectious/chronic disease specialist.

I had weird liver readings. The doctors said well I was just glucose intolerant not the disease. I said naw, there was more.

Found website called wrong diagnosis. Researched and linked all my symptoms and diagnosis over the past 20 years and came up with a possible answer. I had something totally overlooked. And then realized that I was luck to be a live maybe. Went to neurologist and had my ammonia level taken at that point it was well over 180 (normal is 30), while over 200 can be comatose. We started the only medications we knew of at the time.

I located a doctor in my city. The only specialist with Urea Cycle Disorders. Ultimately I have been diagnosed with Ornithine Transcarbamylase Dificiency, a Urea Cycle Disorder. Even though my liver only operates a very low percentage, threw the grace of God I am still here. I think one of the reasons is to let people know about this disorder especially women.

My disorder means I cannot assimilate protein correctly. Voila--gluten is a protein. Just as in the Celiac disease process, the Urea Cycle Disorders also damage the villi (sp?). So going gluten free automatically cut back on the protein bombarding my system. I stumbled onto self help. In fact part of my treatment requires taking amino acids --some I had already found were making me feel better. I had spent thousands of dollars at Whole Foods buying supplements keeping me alive. And over time I did not realize I had been subconciously weaning various types of protein from my diet. Except I had begun drinking power smoothies every morning and that was contributing to my overall ill health.

My point is for those that think they may be just intolerant because the basic tests are negative. It may be even deeper than that. It may be ALL protein not just gluten.

The materials for UCD infer that most are found at birth. Males tend to die young if they have it. Females can have it and never become symptomatic or they may have problems appear any time in life.

There are various tests. I see a metobolic, genetic, pediatrician at age 51. Go figure. Doctors that treat adults have no experience with the disorder.

So for those that have gone gluten free and are still having problems --try looking at your protein level intake also. Don't try to go protein free -- your body will catabolize and destroy muscles including heart. I have to be very careful. Low protein diets range around 30 grams for adults. So you see the atkins, southbeach and other low carb diets don't and can't work. Several years before being diagnosed, I had tried the Atkins diet with a friend. I ended up in the hospital quite ill and did not know why. Now I do. The sad thing is, the nurse said they had six women in the past month that had been hospitalized and had been on that diet. It tells me that even though some of us can tolerate these mega protein diets, others it will and can kill.

So for the gluten free that provide recipes and such --thank you for keeping me alive. I am gluten intolerant. I am also protein intolerant. I must stay on special medications the rest of my life. For those who still are searching, look at the protein. PS this is a genetic disorder most of the time. The side of the family from which I obtained from --all are dead. I am fighting to staying alive. And Gluten Free is one of the Golden Keys!!!!

[Fiddle-Faddle]

Thank you for posting this. THis is fascinating!

[ravenwoodglass]

Thanks for posting this. You may have helped me more than you could imagine. I seem to have a lot of problems with proteins of any kind. I am constantly sick when I have my DS home and am fixing high meat and protein foods for him. He isn't doing real well either. My twin died of some sort of autoimmune liver destruction at age 15, they never gave a reason for it and said it just happens sometimes. This probably doesn't apply to me and my family but off I go to do some more research. Goody something to do today.

[UCDSurvivor]

Ravenwood,

I see where you say misdiagnosed... really all of those are just symptoms of a root problem. Basically I had all that and more. I will find total list of what proteins can do and post. I have not studied carbs and fats as much. I do have some correspondent friends since diagnosed that I talk to.

Until the past five or six years doctors believed there were not that many adults that may be living with the Ornithine Transcarbamylase Deficiency (OTC) which is a urea cycle disorder. My belief is that there are people, mostly women out there that are dx'd as celiac intolerant and chronic fatigue/fibromyalgia that may really have some slight problem with the urea cycle and protein assimilation.

I am part of a five year study -- they want to find out more about adults. Am one of the oldest living at the moment. Know there are one or two older than me. We both have about the same level of symptoms on a monthly basis. Basically we must control the diet to prevent problems.

Continuously eating high protein meals could cause blood serum levels of ammonia in our body to rise (hyperammonemia). That is toxic to the brain and central nervous system. It can and will kill you if not treated. You slip into coma and are gone. For babies they believe this is one of the causes of sudden infant crib death.

I am working to create awareness. Celiac people know how important diet is. Some people don't.

I have one e-pen pal that is a full blown gene damaged friend. She has brain damage with her UCD. She is an adult but has the ulcers, gerd, GI problems --can eat very little foods without problems. She is having a problem taking the medicines we need to take --they tear your stomach up. She has a mickey button to put food and medicine in. She is 39. She is limited to about 30 grams of protein a day.

Before DX I was having protein smoothies in morning from Jamba Juice (150 grams), eating light salad with can of chicken or tuna (30 grams), dinner my husband would fix (100), plus 4-5 cafe lattes from Star Bucks (100). That is 380 grams of protein -- when my body could barely handle 30 grams with medicine. No wonder I was off the wall with migraines with auras, migraines with seizures, --you name it I had it. I would fall asleep for days at a time.

So when I went celiac free I thought I really had found the answer. What I had done was cut proteins and was letting the villi (sp?) heal some. A urea cycle disorder also damages the villi. Guess because both are protein related. I had been constipated all my life. Now rather regular. But can't lose weight because of the amino acid I am missing.

The trip has been interesting. Must stay gluten free and low protein to feel rather well. If I eat gluten I become ill.

From your tag it looks like you have had the gentic studies. I have had the endoscopy and liver biopsies for the celiac and urea cycle disorders. At some point I think they will do an entire DNA workup. I as to have done but Yale lost my blood. So a new lab will do it in home town.

Will stop blathering. Have a good day.

[jerseyangel]

UCDSurvivor--

This is so interesting. I hope you will keep posting about this, as there are so many who come to the board testing negative for Celiac yet know that gluten makes them sick. This is another possibility for them to look into.

Best of health to you, thanks and welcome

[kbtoyssni]

Thanks for posting. I never knew that people could have a problem with too much protein. Glad I'm aware of it now.

[ravenwoodglass]

Ravenwood,

I see where you say misdiagnosed... really all of those are just symptoms of a root problem. Basically I had all that and more. I will find total list of what proteins can do and post. I have not studied carbs and fats as much. I do have some correspondent friends since diagnosed that I talk to.

Until the past five or six years doctors believed there were not that many adults that may be living with the Ornithine Transcarbamylase Deficiency (OTC) which is a urea cycle disorder. My belief is that there are people, mostly women out there that are dx'd as celiac intolerant and chronic fatigue/fibromyalgia that may really have some slight problem with the urea cycle and protein assimilation.

I am part of a five year study -- they want to find out more about adults. Am one of the oldest living at the moment. Know there are one or two older than me. We both have about the same level of symptoms on a monthly basis. Basically we must control the diet to prevent problems.

Continuously eating high protein meals could cause blood serum levels of ammonia in our body to rise (hyperammonemia). That is toxic to the brain and central nervous system. It can and will kill you if not treated. You slip into coma and are gone. For babies they believe this is one of the causes of sudden infant crib death.

I am working to create awareness. Celiac people know how important diet is. Some people don't.

I have one e-pen pal that is a full blown gene damaged friend. She has brain damage with her UCD. She is an adult but has the ulcers, gerd, GI problems --can eat very little foods without problems. She is having a problem taking the medicines we need to take --they tear your stomach up. She has a mickey button to put food and medicine in. She is 39. She is limited to about 30 grams of protein a day.

Before DX I was having protein smoothies in morning from Jamba Juice (150 grams), eating light salad with can of chicken or tuna (30 grams), dinner my husband would fix (100), plus 4-5 cafe lattes from Star Bucks (100). That is 380 grams of protein -- when my body could barely handle 30 grams with medicine. No wonder I was off the wall with migraines with auras, migraines with seizures, --you name it I had it. I would fall asleep for days at a time.

So when I went celiac free I thought I really had found the answer. What I had done was cut proteins and was letting the villi (sp?) heal some. A urea cycle disorder also damages the villi. Guess because both are protein related. I had been constipated all my life. Now rather regular. But can't lose weight because of the amino acid I am missing.

The trip has been interesting. Must stay gluten free and low protein to feel rather well. If I eat gluten I become ill.

From your tag it looks like you have had the gentic studies. I have had the endoscopy and liver biopsies for the celiac and urea cycle disorders. At some point I think they will do an entire DNA workup. I as to have done but Yale lost my blood. So a new lab will do it in home town.

Will stop blathering. Have a good day.

I do thank you for the post and in advance for any links you may add to it. I have done a bit of googling but I will be doing more. The only genetic studies I had were looking specifically for celiac genes so I don't know what others I may carry.

[nora-n]

Last year or so they announcedn that they now had one proven death from the atkins diet....I thought, that this does not prove it is dangerous, as there probably are hundreds of thousands of people out there on atkins.....

Intersting that they said there had been six others at that hospital that were severely sick.

(I do better on low-carb so i do not have this problem myself)

I just looked up this deficiency on th internet, and it looks like there are some forms where it is not so severe, so there may be more people out there (or here) with this problem. The most severely affected probably have died or been diagnosed....

Open Original Shared Link

Open Original Shared Link

nora

[UCDSurvivor]

Yes the most severe die, as I referred to my 39 year old friend --she is in very bad shape. Most boys die at birth or by age 5.Females may present any time in their life with mild to severe symptoms. My liver's Urea Cycle only works 5% of the time. To live it should be around 20-25%. I should be worse but between the grace of God and fates as well as me using alternative medicines and solutions I think that is why I am here.

The university medical groups cannot publish on the forums or boards to inform groups about the issues with protein. Thus after thinking I was celiac intolerant and learned the issue was more severe, that is why I am letting people know.

The two links you quoted provide general information but many of us patients and some doctors now suspect that the women with milder symptoms have been diagnosed as something else. The most common misdiagnosis being food allergies (any thing with protein where patient is eating more protein that the body can assimilate--based on body weight and size), celiac intolerance, fibromyalgia, chronic fatigue, epilepsy, migraines with seizures, personality disorders, sinus problems, general headaches, IBS, constipation, diarrhea, and on and on. As I said before, am putting list together that impacts adults and will post.

Basically a metabolic disorder --that is what a urea cycle disorder is, impacts your body at the mitochondria level or basically the cell level. It is only since the started the genome mapping projects that they have learned more about the disorders. Now they are studying epigenomes to learn more.

For example Baylor University in Houston has a specialist Dr. Brandan Lee that is studying urea cycle disorders. He sees patients from all over the world. There are several other doctors in the US that are well known.

Medication to treat these disorders can range from $4,000 upwards to $15,000 a month. You take the medicine as well as eat a low protein diet.

Again, my purpose is to inform, say thank you for being here--celiac recipes (gluten free) kept me alive along with my alternative medicine treatments through the years until I was properly diagnosed. Protein is not my friend. For some of my e-pal friends it may be fats or carbohydrates. They all have to do with the metobolic system. However as far as I know, only protein damages the villi.

Have a groovey day!!

Last year or so they announcedn that they now had one proven death from the atkins diet....I thought, that this does not prove it is dangerous, as there probably are hundreds of thousands of people out there on atkins.....

Intersting that they said there had been six others at that hospital that were severely sick.

(I do better on low-carb so i do not have this problem myself)

I just looked up this deficiency on th internet, and it looks like there are some forms where it is not so severe, so there may be more people out there (or here) with this problem. The most severely affected probably have died or been diagnosed....

Open Original Shared Link

Open Original Shared Link

nora

[MyMississippi]

The Atkins diet ,done correctly, is not a HIGH protein diet---- it is a LOW carb diet. The emphasis is on the LOW carbs--- not the protein. It has been proven -- it is a fact --- that the American diet ( very HIGH in carbs ) is what is making people obese, and contributing in a big way to high cholesterol, high blood pressure, heart disease, type 2 diabetes, high triglycerides, and more.

The thought being that high carb diets cause constant high levels of the hormone, insulin , to be floating around in your blood stream, wreacking havoc on your body.

The people who are made sick by Atikins diet were probably in poor health to begin with and did not do the diet correctly.

A healthy diet consists of LOW carbs, adequate protein, more fiber, fresh vegs, (lots of green leafy ones) some fresh fruits, nuts & seeds, some pure dairy products. And just eating LESS food, period.

Yes, there are some people who can't do dairy, can't do gluten, can't do much protein, etc. These are the EXCEPTIONS---- not the norm. Sick people have to MODIFY their diets according to their particular needs.

But to trash the Atkins diet and the Southbeach diet , just because some sick people are made sicker by it--- is just not right thinking, in my opinion.

[bluejeangirl]

Thanks UCDsurvivor for posting. I've never heard of this and will diffenetly look into it. Just wondering however is it best for you to go plant based proteins or how do you get the protein you need to eat to survive. After I read about this I'll be considering a trial period of low protein to see if I feel better.

I might be eating the wrong things I know if I eat too much protein to carb ratio I will be irritable, won't sleep, and my body feels like I'm wired. Almost like I've had 10 pots of coffee.

The reasons for me eating protein is it's a diet that's good for so many other disorders. Again thanks for giving information that alot of us will be looking into. So many just want answers.

Gail

[nora-n]

Hi UCD survivor, I was thinking that you maybe could put a thread like this one in the other food intolerances folder, it would fit there and people might look for something like that over there.

nora

[UCDSurvivor]

I appreciate the fact you say low carbs. Given that you eat x percent protein, fat, and carbs. The diet does cut the carbs but does increase the amount of protein in a given day. I have the books and the diet plan. My quote of people being sick is from the hospital -- not me -- Except the diet almost killed me. Going to pure protein was a death sentence.

To some people carbs are not a bad thing. I have to eat increased carbs and decreased protein. It is a physical requirement of the liver because of the inability to metabolize the protein. That is why our group is bring the awareness to any group that deals with proteins. If after all is said and done you can't get well, then maybe you might need to explore more options with a metobolic specialist. In one year we have located 5 females in one family group that have metabolic issues versus just celiac. They are being tested in Boston. Her family may not be proteins but may end up being proteins and some type of carb. Part of it is genetic for the French Canadians.

In the end I am not kicking a protein oriented diet, but if you become ill from it, look at the deeper picture, not just at the food group. When a hospital is becoming concerned that 6 women in one month are ill and all are on the Atkins diet -- there probably is a common thread, no matter if they are doing someing right or wrong --it needs to be identified and fixed so the people ultimately don't become harmed or die. Regretably the diet was killing me.

Please note there are new studies being published that the human body has to have a certain amount of cholesterol. Again the factors are maintenance and moderation. But when a part of our body is broken such as genetically with celiac or with a urea cycle disorder this is where we have to explore, manipulate our diet and learn.

Ornithine in the liver is part of the traffic cop system that tells the body where the fat is stored. Thus when the body needs extra energy it goes to the so called index pulls extra fat and burns it. This is why eating protein triggers the burning of fat. This is a simplistic explanation that was given by my geneticist/metabolic specialist. When you make no ornithine (as I do not) the body catabolizes on muscles not fat. Eating protein raises the ammonia. Eating protein raises the ammonia in every one. But you just have a good working urea cycle that gets rid of the nitrogen and ammonia that are the "leftovers" when the body burns a unit of energy"

The Atkins diet ,done correctly, is not a HIGH protein diet---- it is a LOW carb diet. The emphasis is on the LOW carbs--- not the protein. It has been proven -- it is a fact --- that the American diet ( very HIGH in carbs ) is what is making people obese, and contributing in a big way to high cholesterol, high blood pressure, heart disease, type 2 diabetes, high triglycerides, and more.

The thought being that high carb diets cause constant high levels of the hormone, insulin , to be floating around in your blood stream, wreacking havoc on your body.

The people who are made sick by Atikins diet were probably in poor health to begin with and did not do the diet correctly.

A healthy diet consists of LOW carbs, adequate protein, more fiber, fresh vegs, (lots of green leafy ones) some fresh fruits, nuts & seeds, some pure dairy products. And just eating LESS food, period.

Yes, there are some people who can't do dairy, can't do gluten, can't do much protein, etc. These are the EXCEPTIONS---- not the norm. Sick people have to MODIFY their diets according to their particular needs.

But to trash the Atkins diet and the Southbeach diet , just because some sick people are made sicker by it--- is just not right thinking, in my opinion.

[UCDSurvivor]

Say hey,

You hit it on the head. I mostly eat plant based proteins. Why? I can eat more food for the bang. Like a half a cup a beans with a half a cup a rice for a meal. Going gluten free and low protein basically turns me in to a vegetarian. However I celebrate some meals with rice or corn noodles, and gluten free corn bread (entire family loves). I also keep a pkg of gluten-free buscuits in freezer to eat with meal or special treat with butter and syrup. My total calories for the day is suppose to be around 1200 to 1300 with the 30 grams of protein.

I have some of your symptoms some times. One major problem is the constant migraines and the auras --I awake with them and fight all day. I celebrate the rare day I don't have them. Something somewhere in my metabolic jigsaw puzzle causes them. That and the body aches that are related to protein gout. I drink cherry juice for that. Makes them go away.

Hugs

Thanks UCDsurvivor for posting. I've never heard of this and will diffenetly look into it. Just wondering however is it best for you to go plant based proteins or how do you get the protein you need to eat to survive. After I read about this I'll be considering a trial period of low protein to see if I feel better.

I might be eating the wrong things I know if I eat too much protein to carb ratio I will be irritable, won't sleep, and my body feels like I'm wired. Almost like I've had 10 pots of coffee.

The reasons for me eating protein is it's a diet that's good for so many other disorders. Again thanks for giving information that alot of us will be looking into. So many just want answers.

Gail

[UCDSurvivor]

Thanks love. I will look at compiling all the stuff more succinctly. The research university I am a patient with just contacted me that they may be making a short educational video that includes my saga --to help others with chronic problems have hope and not give up---the answer is out there. I just had to wait until the medical tests and knowledge believed a child without direct treatment could live into adulthood. I think something bigger than me had a say in that.

Hi UCD survivor, I was thinking that you maybe could put a thread like this one in the other food intolerances folder, it would fit there and people might look for something like that over there.

nora

[UCDSurvivor]

I just read some of the responses two years later. One from Mymississipi: The Atkins diet ,done correctly, is not a HIGH protein diet---- it is a LOW carb diet. The emphasis is on the LOW carbs--- not the protein. It has been proven -- it is a fact --- that the American diet ( very HIGH in carbs ) is what is making people obese, and contributing in a big way to high cholesterol, high blood pressure, heart disease, type 2 diabetes, high triglycerides, and more. The thought being that high carb diets cause constant high levels of the hormone, insulin , to be floating around in your blood stream, wreacking havoc on your body. The people who are made sick by Atikins diet were probably in poor health to begin with and did not do the diet correctly. A healthy diet consists of LOW carbs, adequate protein, more fiber, fresh vegs, (lots of green leafy ones) some fresh fruits, nuts & seeds, some pure dairy products. And just eating LESS food, period. Yes, there are some people who can't do dairy, can't do gluten, can't do much protein, etc. These are the EXCEPTIONS---- not the norm. Sick people have to MODIFY their diets according to their particular needs.But to trash the Atkins diet and the Southbeach diet , just because some sick people are made sicker by it--- is just not right thinking, in my opinion.

Dear Mymississippi, I now am teaching at a medical school in a very well known university. The students enjoy your comment regarding the Atkins diet and its falicy with metabolism. It is a short term attack on your body with A HIGH PROTEIN and LOW CARB and HIGH FAT. So to say it is low carb is an uninformed statement.

By the way. Through the new course the medical students have taken ----three women's lives have been saved. One was almost dead in ICU. And guess what---she had been on one of those wonderful low carb diets.

TOO MUCH PROTEIN CAN KILL ANYONE. TOO MUCH PROTEIN FOR DAMAGED VILLI CAUSES MALABSORPTION OF YOUR PROTEINS, CARBS, AND LIPIDS, AND ALL OTHER SUPPLEMENTS. FOR SOMEONE WHO IS ON A CELIAC BOARD YOU REALLY NEED SOME MEDICAL EDUCATION!!