Sick daughter goes undiagnosed

Posted by ghennel @ghennel, Nov 15, 2019

My 26 year old daughter has had on going health problems since her teens. She has been from doctor to doctor and no once can seem to pinpoint what is wrong with her. She weights 89 lbs, can’t gain weight, has chronic pain in her abdominal area and a small mass that can be felt. She has had 4 MRI’s which found nothing. She lives in Arizona and was in the Scottsdale Mayo ER, they thought it was an ovary or endometriosis and they did an ultrasound, blood work and pelvic exam. Found nothing, sent her home but told her to come back if things got worse. They never get better. I wish they would have looked further to see what the problem really is if it isn’t female issues. She is so slim you can feel there is something going on, a mass. She also gets chronic inflammation in her rib cage on one side, on and off. No one can explain that either. Her blood work shows she produces very little progesterone. No one really has done anything to address that. Her diet is very limited because she gets ill very easily. She gets night sweats that soak her sheets just about daily. She runs low grade fevers frequently. She has had many tests done over the years, and while things may come back “slightly” off, no one has a diagnosis or explanation for why she is chronically sick. The chronic pain is affecting her mental state as well. She can barely function enough to keep a part time job. Her income level is low so she could never pay out of pocket to get diagnosed by Mayo. Her government insurance policy that she pays for doesn’t want to approve many tests or specialists. Even when they do, they are mediocre and all they want to do is give her pain meds and anti nausea. She does not take the pain meds and the anti nausea just provides a bit of relief. She needs a diagnosis, not meds that cover up symptoms. What is causing all of this? I wish she could afford to go to Mayo to at least get a diagnosis. She is deteriorating and no one helps her. We do not know what to do. I am her mother and I live in Wisconsin and do what I can to help her keep afloat. At 89 lbs she is frail and dragging herself through her days not living life. I am scared for her. I wish I could find her some help.

Thank you for the tips. My daughter is lactose intolerant, but I am sure she could find an alternative. They had her doing high calorie shakes for a while to try to help her put and keep weight on.

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@januaryjane

Hi, I posted a reply on my post. So sorry your daughter is going through this. Has she had a colonoscopy? Checked her thyroid, thoroughly? Could the mass be an enlarged lymph node? I have low-grade fevers on and off, relentless. I started having inflammation on my face and ears, which sparked all the autoimmune stuff, thinking I might have lupus. I dont, but found out that "rashes" or inflammation, was part of the ebv virus. I cant go to mayo either. I too find doctors dismiss me before they even talk to me.

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She did have her thyroid checked thoroughly. It was slightly off, however she is not producing progesterone. They are trying to address that and think if they can get her hormone levels corrected it may help correct the thyroid. It very well could be an enlarged lymph node, it comes and goes when she is having a "flare up". No one will check into it far enough to really find out what is going on. They all feel it, I can feel it, then it gets dismissed. Lupus was checked off the list, so she isn't dealing with that. I do believe it is autoimmune due to the fact she goes through flare ups. She feels very dismissed and ignored by the health professionals she has seen. It will take an outstanding facility and set of doctors to diagnose her. Too bad great health care is only for the wealthy these days.

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@ghennel

Ethan,
Thank you for the additional groups. I will definitely try posting there.

My daughter, Shannon, has been given some diet guidance and it has helped a bit. She is unable to put weight on and keep it on. She has had 4 CAT scans, an MRI, endoscopy, ultrasounds,loads of blood work and more ER visits than I can count over the years. When they can't pinpoint anything specific they prescribe an anti nausea and pain medications and send her on her way. She opts not to go down the path of pain medication reliance and the pain meds end up causing digestive upset anyways. They know something is off, but no one has dug far enough to figure out where this is all coming from. This started in her teens.

As far as I go, I worry about her every day and am constantly on the search for answers. It makes no sense to me how so many doctors know something is wrong, but no one goes the extra mile to figure it out. It has to be something outside the normal list of disorders. Part of the problem is insurance as well and the limit of quality care she can actually seek out. She is barely holding a part time job because she is exhausted and tells me that she thinks she is just going to feel like garbage her entire life. She is starting to give up hope she will ever be helped. She is 26, I can't accept that for her. So am I okay? No, not really. I am sad that I as her mother, can't fix this for her or at the very least get some answers so she can manage her health problems. It is hard to manage an illness when you don't know what it is.

Thank you for your time,
Ghennel

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@ghennel – I just read about your daughter’s misery. I’m so sorry. I know exactly what you are going through. I have a daughter that lived with an undiagnosed illness for years. My first thought- low producing progesterone- why? Endocrinology explanation? Her abdominal pain , mass felt and poor weight gain reminds me of a young teenage girl I got to know. Turns out she suffered from extreme chronic constipation for years. Her growth was slow, compared to her twin sister as well. The mass felt was a large stool mass. With help of pediatric gastroenterologists this was eventually resolved, appetite returned and she caught up in growth. I noticed you mentioned endoscopic examination but not colonoscopy. Was that done? What are her bathroom habits?

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My daughter did suffer from extreme constipation for years as well. A GI doctor tried to help her and the medications they prescribed did not work and she could not tolerate them. She went to a natural path who helped her with diet, colonics and supplements. Now that she is "cleaned out", she is suffering from frequent bouts of diarrhea. My question is why does she have these digestive problems in the first place? As a teen she had lymphatic malformations in her small intestines that were surgically removed. From what I understand that is caused by a malformed lymphatic system. It was suggested to us through these boards based on her past and the info I gave to see if she may have mesenteric panniculitis. Her symptoms and past sound just like what she has been going through. The mass could be a lymph flare up that comes and goes, which may explain why it is hard to find on her scans. It took them 2 years to find the lymphatic malformations and it was an intern who would not accept that they found nothing, that spent hours of his own time going through her tests and scans. It was barely visible. As for an endoscope, the prep process never worked enough where they could do one in the past. She may be able to get through one now, but no one has ordered one. We have no idea if her hormone problems could be related to the digestive problems or not, because the doctors she has seen do not communicate. Her digestion has been so bad for so long she does not absorb nutrients properly which I am sure is not helping the rest of her body work properly. Shannon has an appetite, but many times when she eats she feels lousy, gets bloated to the point she looks pregnant, suffers from nausea, has abdominal pain and then many times it goes right through her. She supplements her diet with high calorie shakes to try to keep weight on. Your "why" questions….are the same questions we have been spending years trying to find the answers to. I wish we could find a doctor to run the proper tests to see if mesenteric panniculitis could be what she has. It is supposed to be rare and hard to diagnose. My family has a strong history of auto-immune problems and inflammatory issues. It has been so frustrating. Thank you for reaching out.

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Thanks for all information! It is possible that the lymphatic problem is separate from the digestive one. Another autoimmune illness that should be checked out is celiac disease where you can’t tolerate gluten. Symptoms are what you describe happens after she eats. The illness alters the inside of small intestine so that it can’t absorb nutrients.
My 2 daughters have it.

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@ghennel

She did have her thyroid checked thoroughly. It was slightly off, however she is not producing progesterone. They are trying to address that and think if they can get her hormone levels corrected it may help correct the thyroid. It very well could be an enlarged lymph node, it comes and goes when she is having a "flare up". No one will check into it far enough to really find out what is going on. They all feel it, I can feel it, then it gets dismissed. Lupus was checked off the list, so she isn't dealing with that. I do believe it is autoimmune due to the fact she goes through flare ups. She feels very dismissed and ignored by the health professionals she has seen. It will take an outstanding facility and set of doctors to diagnose her. Too bad great health care is only for the wealthy these days.

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Another thought- at her age the thyroid should not be slightly off- no explanation. Same with progesterone. The pituitary gland in the brain regulates production of many hormones. Endocrinologists should be able to explain why. Don’t give up – keep pushing for answers to all deviations from normal.

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I completely agree with you! We will not give up. The answer is there, just need to find the right doctor who thinks outside the box. Thanks!

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@astaingegerdm

Thanks for all information! It is possible that the lymphatic problem is separate from the digestive one. Another autoimmune illness that should be checked out is celiac disease where you can’t tolerate gluten. Symptoms are what you describe happens after she eats. The illness alters the inside of small intestine so that it can’t absorb nutrients.
My 2 daughters have it.

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Thank you. Celiac was ruled out a few years back. I have a friend with celiac, so we are familiar with it.

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@ghennel

She did have her thyroid checked thoroughly. It was slightly off, however she is not producing progesterone. They are trying to address that and think if they can get her hormone levels corrected it may help correct the thyroid. It very well could be an enlarged lymph node, it comes and goes when she is having a "flare up". No one will check into it far enough to really find out what is going on. They all feel it, I can feel it, then it gets dismissed. Lupus was checked off the list, so she isn't dealing with that. I do believe it is autoimmune due to the fact she goes through flare ups. She feels very dismissed and ignored by the health professionals she has seen. It will take an outstanding facility and set of doctors to diagnose her. Too bad great health care is only for the wealthy these days.

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Sorry to hear undiagnosed, I know it's frustrating. I have graves diease it's in remission for the time being but I do have other mystery illnesses that I'm working on because it doesn't seem the medical doctors understand. Test you may want to look at DNA sometimes can give a clue, genvoa nateval test, 24 hour cortisol salvia test most insurance will cover these test the problem is getting a doctor to order them. My mystery illness has something to do with oxalates once I changed to a lowering oxalate diet I went in remission with my graves plus even thou I've been on a lowering oxalate diet for two years my genvoa test says I'm still high oxalate so I do have gentic that show this also. Then my DNA says mthfr gene mutation my genvoa nateval test shows my vitamin Bs glutathione alpha lipoic acid are all low or deficient I'm working on these issues it not that easy because I have reactions to some of the supplements, the coritsol test can tell alot what's going on stressing the body and adrenal. What was her thyroid test numbers hopefully they tested tsh ft4ft3 t3 t4 rt3 trab tsi tpo selenium iodine levels iron/ ferritin. I'm still looking for a doctor that can help me my functional doctor just handed me my test and told me she doesn't treat issues like mine.

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Also look online for organizations that help people with medical test doctors meds.

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@80rosy

Sorry to hear undiagnosed, I know it's frustrating. I have graves diease it's in remission for the time being but I do have other mystery illnesses that I'm working on because it doesn't seem the medical doctors understand. Test you may want to look at DNA sometimes can give a clue, genvoa nateval test, 24 hour cortisol salvia test most insurance will cover these test the problem is getting a doctor to order them. My mystery illness has something to do with oxalates once I changed to a lowering oxalate diet I went in remission with my graves plus even thou I've been on a lowering oxalate diet for two years my genvoa test says I'm still high oxalate so I do have gentic that show this also. Then my DNA says mthfr gene mutation my genvoa nateval test shows my vitamin Bs glutathione alpha lipoic acid are all low or deficient I'm working on these issues it not that easy because I have reactions to some of the supplements, the coritsol test can tell alot what's going on stressing the body and adrenal. What was her thyroid test numbers hopefully they tested tsh ft4ft3 t3 t4 rt3 trab tsi tpo selenium iodine levels iron/ ferritin. I'm still looking for a doctor that can help me my functional doctor just handed me my test and told me she doesn't treat issues like mine.

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@80rosy, welcome to Mayo Clinic Connect. You may wish to connect with others living with Graves disease in the Endocrine System group here: https://connect.mayoclinic.org/group/diabetes-and-endocrine-problems/

In particular, you might be interested in this older discussion:
– Thyroid disease's impact on other conditions https://connect.mayoclinic.org/discussion/subclinical-hypothyroidism/

Are your other illnesses endocrine related?

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@colleenyoung

@80rosy, welcome to Mayo Clinic Connect. You may wish to connect with others living with Graves disease in the Endocrine System group here: https://connect.mayoclinic.org/group/diabetes-and-endocrine-problems/

In particular, you might be interested in this older discussion:
– Thyroid disease's impact on other conditions https://connect.mayoclinic.org/discussion/subclinical-hypothyroidism/

Are your other illnesses endocrine related?

Jump to this post

I'm still trying to understand, but with my test results I see I'm high on citric acid I don't eat any citric acid or very little. This might be why my T4 is low, I feel I need a reserching at NIH to help me.

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