Can't get a definitive diagnosis

Posted by linda2114 @linda2114, Jun 24 1:00am

When I reached puberty my spine started popping and grinding and making noises. I was diagnosed with scoliosis. My symptoms increased and spread throughout my body. I have been light sensitive ever since I was a young girl. I bruise easily. Throughout the years I have been misdiagnosed, with scoliosis, anemia, hyperextensibility, lupus, fibromyalgia etc etc etc. I have had multiple blood tests,and MRI's, bone scans and bone density test's. I have seen a neurologist, a rheumatologist, a chiropractor, multiple family practitioners. I have even spoken to a geneticist. My adult daughter has the same symptoms, that I do. A year-and-a-half ago I was diagnosed with breast cancer, i d c..Which I found myself doing a self examination right before Christmas 1999. Six weeks after my surgery in January of 2020 right as the pandemic hit oh, my 30 year old son was diagnosed with acute lymphoblastic leukemia Philadelphia chromosome-positive .2020 was one hell of a year!! And 5 day's before my surgery my mother had a stroke….My mother was diagnosed with breast cancer back in 1978. I'm not sure what kind of breast cancer she had. I was tested for the braca Gene and I do not have it. Since my lumpectomy and radiation treatments and oral chemotherapy regimen started, I have experience major side effects from the anastrozole. Migraine headaches, Optical problems, brain fog. I believe that my breast cancer was caused by my undiagnosed auto immune disorder. I have had every blood test you can imagine all the thyroid panel test's even an anti-dna test everything keeps coming back negative. I'm at my wit's end. Does anyone have any advice?

I did have one doctor say that all of my symptoms lead him to believe that I had a mixed connective tissue disorder

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Hello @linda2114, Welcome to Connect, an online community where patients and caregivers share their experiences, find support and exchange information with others. Thank you for sharing your journey trying to get to the bottom of what's causing all of your symptoms. I can't imagine how difficult it has been for you along the way trying to get a diagnose and a treatment that helps. There is another discussion that you may want to view to see if it sounds familiar with what you have been through.

Chronic Illnesses of Millions of Women Left Untreated: https://connect.mayoclinic.org/discussion/chronic-illnesses-of-millions-of-women-left-untreated/

You mentioned seeing a lot of doctors and specialists. I don't know if it's an option for you but have you considered seeking help at a major teaching hospital or health facility like Mayo Clinic which is known for it's multidisciplinary team approach to diagnosing patients? More info about Mayo Clinic's approach — Mayo Clinic: multidisciplinary teamwork, physician-led governance, and patient-centered culture drive world-class health care: https://collections.nlm.nih.gov/catalog/nlm:nlmuid-101537958-pdf

If you would like to seek help from Mayo Clinic, contact one of the appointment offices. The contact information for Minnesota, Arizona and Florida can be found here http://mayocl.in/1mtmR63.

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@linda2114

I did have one doctor say that all of my symptoms lead him to believe that I had a mixed connective tissue disorder

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Hi @linda2114 i can only imagine how frustrated you are feeling. I, too, went through several months of being brushed of, told it was all in my heat, etc. But i knew it was real. My sister has been diagnosed with an autoimmune disease 3 years earlier. I finally got a true diagnosis at the university medical center near us.

Then, my sister starte looking at the families genetic ties to autoimmune diseases. Here is the link she sent me.
https://www.newswise.com//articles/know-your-familys-autoimmune-quotient-aq-campaign-highlights-national-autoimmune-diseases-awareness-month
The article helped us answer many questions
The doctor mentioned mixed connective tissue disorder. Did he/she suggest any treatment or plan for further testing?

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@becsbuddy

Hi @linda2114 i can only imagine how frustrated you are feeling. I, too, went through several months of being brushed of, told it was all in my heat, etc. But i knew it was real. My sister has been diagnosed with an autoimmune disease 3 years earlier. I finally got a true diagnosis at the university medical center near us.

Then, my sister starte looking at the families genetic ties to autoimmune diseases. Here is the link she sent me.
https://www.newswise.com//articles/know-your-familys-autoimmune-quotient-aq-campaign-highlights-national-autoimmune-diseases-awareness-month
The article helped us answer many questions
The doctor mentioned mixed connective tissue disorder. Did he/she suggest any treatment or plan for further testing?

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I appreciate the information/link. Doctor referred me to the University of Pennsylvania. And when I contacted them they told me that they weren't currently running any clinicals on autoimmune disorders. They were concentrating on Alzheimer's dementia and pediatric illnesses

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@johnbishop

Hello @linda2114, Welcome to Connect, an online community where patients and caregivers share their experiences, find support and exchange information with others. Thank you for sharing your journey trying to get to the bottom of what's causing all of your symptoms. I can't imagine how difficult it has been for you along the way trying to get a diagnose and a treatment that helps. There is another discussion that you may want to view to see if it sounds familiar with what you have been through.

Chronic Illnesses of Millions of Women Left Untreated: https://connect.mayoclinic.org/discussion/chronic-illnesses-of-millions-of-women-left-untreated/

You mentioned seeing a lot of doctors and specialists. I don't know if it's an option for you but have you considered seeking help at a major teaching hospital or health facility like Mayo Clinic which is known for it's multidisciplinary team approach to diagnosing patients? More info about Mayo Clinic's approach — Mayo Clinic: multidisciplinary teamwork, physician-led governance, and patient-centered culture drive world-class health care: https://collections.nlm.nih.gov/catalog/nlm:nlmuid-101537958-pdf

If you would like to seek help from Mayo Clinic, contact one of the appointment offices. The contact information for Minnesota, Arizona and Florida can be found here http://mayocl.in/1mtmR63.

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Thank you so much for your input. Unfortunately I don't live near a Mayo Clinic. I reached out to Johns Hopkins, but they asked me to pick a doctor and take a particular specialist for my particular autoimmune disease. I'm not sure what kind of autoimmune disorder I have. So I didn't really know how to respond. I'm not sure if it's a connective tissue disorder, or another disease

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@linda2114 I suggest that you go with John Hopkins. You don’t yet have a formal diagnosis of connective tissue disorder so any doctor who specializes in autoimmune diseases will be perfect. Those who specialize in autoimmune diseases are usually rheumatologists.
You really want to get diagnosed!

Can you call Johns Hopkins tomorrow and try for an appointment?

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@linda2114 Hi, Linda. I have gone through pretty much the same thing, but as a male, slightly different…. Anyway, the best advice I can give you is 1) Get a whole genome analysis from a place like Dante Genetics, or Sequencing.com. Or, for a few hundred dollars less, start with Ambry Genetics (ambrygen.com) as I did. 2) Treat your search as a hobby, with major outcomes. Get acquainted with National Institutes of health (NIH.gov). An easy place to start is OMIM.org, or HPO.jax.org. Don't be afraid to sign in. They are very trustworthy people. 3)Ask your doctor to set up a NTproBNP and sFLC. (not the various cheapie and ineffective protein tests.) The sFLC is done by The Bindings Site. Mayo or ARUP or any of the major clinics can do this. My own local doc found an old ARUP test, blocked out the print on it, and typed in the info claiming that I had minimal light and heavy chains protein, in spite of the fact that ARUP had done the test a few years earlier, and found that I had Gelsolin-level "out of range" proteins. So start with a major lab, and if the doc will not help you, change doctors.
Selah.

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@oldkarl

@linda2114 Hi, Linda. I have gone through pretty much the same thing, but as a male, slightly different…. Anyway, the best advice I can give you is 1) Get a whole genome analysis from a place like Dante Genetics, or Sequencing.com. Or, for a few hundred dollars less, start with Ambry Genetics (ambrygen.com) as I did. 2) Treat your search as a hobby, with major outcomes. Get acquainted with National Institutes of health (NIH.gov). An easy place to start is OMIM.org, or HPO.jax.org. Don't be afraid to sign in. They are very trustworthy people. 3)Ask your doctor to set up a NTproBNP and sFLC. (not the various cheapie and ineffective protein tests.) The sFLC is done by The Bindings Site. Mayo or ARUP or any of the major clinics can do this. My own local doc found an old ARUP test, blocked out the print on it, and typed in the info claiming that I had minimal light and heavy chains protein, in spite of the fact that ARUP had done the test a few years earlier, and found that I had Gelsolin-level "out of range" proteins. So start with a major lab, and if the doc will not help you, change doctors.
Selah.

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I reply to oldkarl…hi, this is migizi. Over the years, I have had a number of “mysterious illnesses” that landed me in the hospital with no diagnoses. I am in another of those situations, without the hospitalization this time yet🤞 Since you suggested these sites, have you used them and what value have you found from them, if you did utilize one of the sites? Thanks for your help, if this is possible.

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@migizii

I reply to oldkarl…hi, this is migizi. Over the years, I have had a number of “mysterious illnesses” that landed me in the hospital with no diagnoses. I am in another of those situations, without the hospitalization this time yet🤞 Since you suggested these sites, have you used them and what value have you found from them, if you did utilize one of the sites? Thanks for your help, if this is possible.

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@linda2114 Hi, migizi. Her question to me: "Since you suggested these sites, have you used them and what value have you found from them, if you did utilize one of the sites? Thanks for your help, if this is possible." Answer: Yes, I have used several of them. I have log-ins for: (1) Ambrygen.com [Great and inexpensive-place to start. Quick turnaround for either of their two special packages, with very accurate statements in their response.] (2) AncestryDNA[well done for ancestry work and basic genetics-but not certified clinical grade ] (3) Sequencing.com (well rounded, and great simple apps to start with. Several choices of plans and services. I like the Genome Explorer app for its ability to sort and lead. Also, the Genome Overview produces massive amounts of pertinent info for highly detailed work.) (4) Human Phenotype Ontology (hpo.jax.org) from Jackson Labs tells you what gene or protein of other marker, and what it does to your body, mind and spirit if the subject gene, etc., is active. Excellent way to get at the truth. (5) http://www.omim.org- Online Mendelian Inheritance M……) I use it almost every day. You list a gene, sign, symptom, protein, etc., and it gives much info about that and about other markers. (6) ENSEMBL.org, Rather technical description, but very accurate. (7) Wikipedia, enter a gene, etc., and usually you will get comprehensive overview of its action. I have used all of these, and depending on what I am searching for, I usually start with the Genome Explorer from Sequencing.com, then OMIM.org, then HPO, etc. I started with Ambrygen.com. There is also Apollo (not used yet). NBCI (NIH, etc.) as a wonderful federal gov service. Many universities have great services. Harvard, Columbia, U of Washington, etc. I hope this helps you and others who face the frustrations of inaccurate or non-existent diagnoses. My guess is that fewer than 10% of American physicians know the meaning of the word "benign" in genetic work. (it means that this gene is unlikely to mutate into something else. It does NOT mean it can or will do no harm.) I have seen about 15 MDs in the last 2 years, and asked them the same question. Only one, a geneticist, knew the correct answer. All the rest answered "it can or will do no harm". Have fun, and get to know these sites well, as they can change your life. And for most of them, about $500 should max out your genetic analysis needs for life. Many are free or incredibly inexpensive, such as Ambry, HPO, ENSEMBL, OMIM, Selah!

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I don't live near the Mayo Clinic either, I fly in and spend time there as directed. Please request an appointment and have a full workup done to determine your diagnosis. I've had genetic tests done too, I have an autoimmune disease, and genetic tests don't really cut the mustard for diagnosing autoimmune disease. There are 90+ different autoimmune disease, and environment and lifestyle play an important part of the equation.

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@Erinmfs

I don't live near the Mayo Clinic either, I fly in and spend time there as directed. Please request an appointment and have a full workup done to determine your diagnosis. I've had genetic tests done too, I have an autoimmune disease, and genetic tests don't really cut the mustard for diagnosing autoimmune disease. There are 90+ different autoimmune disease, and environment and lifestyle play an important part of the equation.

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I am not willing to waste another $10,000, either. I spent May, June, July and most of August at Mayo in Phoenix. I came away with no solid diagnosis, in spite of going there just for the diagnosis. I did lose my thyroid to surgery there. The rest was mostly sitting around, waiting for something positive to happen. It never did. They did not bother doing what I would have considered a full workup. There won't be another time.

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@oldkarl

@linda2114 Hi, migizi. Her question to me: "Since you suggested these sites, have you used them and what value have you found from them, if you did utilize one of the sites? Thanks for your help, if this is possible." Answer: Yes, I have used several of them. I have log-ins for: (1) Ambrygen.com [Great and inexpensive-place to start. Quick turnaround for either of their two special packages, with very accurate statements in their response.] (2) AncestryDNA[well done for ancestry work and basic genetics-but not certified clinical grade ] (3) Sequencing.com (well rounded, and great simple apps to start with. Several choices of plans and services. I like the Genome Explorer app for its ability to sort and lead. Also, the Genome Overview produces massive amounts of pertinent info for highly detailed work.) (4) Human Phenotype Ontology (hpo.jax.org) from Jackson Labs tells you what gene or protein of other marker, and what it does to your body, mind and spirit if the subject gene, etc., is active. Excellent way to get at the truth. (5) http://www.omim.org- Online Mendelian Inheritance M……) I use it almost every day. You list a gene, sign, symptom, protein, etc., and it gives much info about that and about other markers. (6) ENSEMBL.org, Rather technical description, but very accurate. (7) Wikipedia, enter a gene, etc., and usually you will get comprehensive overview of its action. I have used all of these, and depending on what I am searching for, I usually start with the Genome Explorer from Sequencing.com, then OMIM.org, then HPO, etc. I started with Ambrygen.com. There is also Apollo (not used yet). NBCI (NIH, etc.) as a wonderful federal gov service. Many universities have great services. Harvard, Columbia, U of Washington, etc. I hope this helps you and others who face the frustrations of inaccurate or non-existent diagnoses. My guess is that fewer than 10% of American physicians know the meaning of the word "benign" in genetic work. (it means that this gene is unlikely to mutate into something else. It does NOT mean it can or will do no harm.) I have seen about 15 MDs in the last 2 years, and asked them the same question. Only one, a geneticist, knew the correct answer. All the rest answered "it can or will do no harm". Have fun, and get to know these sites well, as they can change your life. And for most of them, about $500 should max out your genetic analysis needs for life. Many are free or incredibly inexpensive, such as Ambry, HPO, ENSEMBL, OMIM, Selah!

Jump to this post

@migizii….thank you so much for this information! I’m am a bit confused by the depth of all the information; so, if I did a comprehensive genetic analysis at sequencing.com….do you think that would be a good place to start? I am in the 🐇 hole at Mayo, Rochester right now and so far, tests are revealing glowing results of good health in spite of a 10lb weight loss on my already petite frame. Idk what might help but I’m willing to consider alternatives. Thanks again so much!

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