mother's unique condition.. no diagnosis... HELP

Posted , 9 users are following.

My mother is currently suffering from an undiagnosed condition. I would like to tell you about her symptoms and journey over the last few years, with the hope that perhaps someone could offer some helpful advice. Perhaps someone has had a similar experience and would be able to offer suggestions about a diagnosis to look into, some holistic treatments to try, medicinal advice, or perhaps things to stay away from. I will try my best to offer a comprehensive picture, while also only giving the necessary pieces because there is just so much… Furthermore, I will do my best to piece it together in the most sensible fashion. My mom is 53 years old, is an average height and weight, and works in a public elementary school as an aide.

 

A few years ago, my mother began experiencing exuberant reactions to mosquito bites. She would become so inflamed from a bite that several times it led to hospitalization for cellulitis.. A small bite on her foot would easily turn into her entire leg swelling to unbelievable extremes. As of recently, she takes prednisone as soon as being bit which helps to keep the reaction from worsening. Luckily we live in NY, and mosquitoes are only a problem during the summer… however the other months bring their own challenges…

 

For several years, she gets sick with sinus infections in the winter months. She is unable to rid herself of the sinus infections, and will typically need several rounds in a row of antibiotics, often without ever being completely symptom-free. It is common for her to go several months combatting against the same infection. These eventually turn into pneumonia.  (On another occasion she was also hospitalized for C.Diff from being on antibiotics so long. She was in the hospital for 2 weeks because of unexplained fevers.) She has chronic sinusitis, and every sinus cavity is filled and should be drained. An ENT proposed surgery, however the other doctors that deal with the autoimmune and hematological type issues have all advised against her having such a procedure at this time.

 

She has problems with random bouts of inflammation and rashes. She will randomly break out in rashes all over her body.  Furthermore, she is currently in physical therapy for severe back pain (from disc/sciatic nerve). She is so inflamed that she can barely sit, which means she can’t even drive herself to her appointment even though it is only 10 minutes away. The doctor can’t believe she is so inflamed while she is on prednisone (she has been on it this time for about 1 month).

 

She has a history of G.I. issues. She has suffered with acid reflux in the past. She is also not regular and will also have such severe stomach pains that she winds up in hysterics and crying from the pain.

 

For a few years, she has also had concerning and varying blood cell levels. Besides needing iron infusions at one point, her white cell count will often be very low. They have found that the B and T cells must ultimately be fighting each other. Her IGE levels were extraordinarily high (over 45000), which they thought were associated with the mosquito bite reactions. Because of this unique and unusual reaction, she was referred to a  research oriented sub-specialist at Mt. Sinai in NYC. She ruled out hyperIGE syndrome as well as a rare mosquito sensitivity. She then got my mother an appointment at the National Institute for Health (NIH). They have performed every possible test and have begun to uncover that a common root causes all of these symptoms, however they can’t quite conceptualize it or diagnose it. Something systemic is going on, and they have ruled out lymphoma, leukemia, and rheumatoid arthritis. They seem to be leaning toward autoimmune, but again, they say she is too unique and doesn’t fit any diagnosis. NIH has performed every possible imaging test and has found that this issue has impacted some of her organs: her liver, lymph nodes, and spleen are enlarged; she has nodules on her lungs. Most recently she began exhibiting vasculitis; she was diagnosed after the doctor saw what looked like blood spots spreading up her legs. (By the way- there was no formal test for this. Is that unusual?) She has been taking pred. for this for about 1 month, and we think it’s working. But we are concerned about her constantly having to go on pred. for one reason or another.

 

The doctors have gotten to the point where they have prescribed her Imuron (an immune-suppressant drug). NIH was considering chemo at one point, but the last time she was there, her blood levels had improved somewhat so they decided not to go that route at that time. We think they improved at that time because she was following a very strict holistic diet and supplement regimen. Now with the development of vasculitis however, one of the doctors at Mt. Sinai feels that this is advancing to a more serious level and she must take action. Before she resolves herself to taking this medication, she wants to know that she exhausted every other possible alternative. She does see holistic doctors (and has also seen chinese medicine doctor, acupuncturist, etc.). She has certainly been open to it all. The imuran scares us because she already has not been able to fight off infection. Plus, even though we know that the inflammatory issues and changes in her organs could cause cancer, we are worried about the Imuran increasing her risk of cancer.

 

This is a very trying period. We have a sense of urgency to get help, answers, a cure, etc. However, we can’t deny that she has been looked at by the best in business, and are feeling scared about a possible race against the clock type situation. We also feel discouraged that there aren’t less severe routes being suggested.

 

Thank you all for taking the time to listen/read.

1 like, 13 replies

Report / Delete

13 Replies

  • Posted

    I Sony get why the docs think it's a auto immune disease. Lupus, lime disease are difficult to diagnose. Have that been a thought . Or serious diseases are known from mosquito bites  even lime disease as well as 

    many others.

    it sounds so frustrating for all involved. I hope she can feel better soon and the right diagnosis found. 

     

    Report / Delete Reply
    • Posted

      I apologize for my later response. It has been a chaotic, yet somewhat productive month. After a 1-week hospitilization & a kidney biopsy due to her kidney having been in danger, they diagnosed her with EPGA which is a type of vasculitis. It is essentially a rare autoimmune disease. They have started chemo and continue with predn., but now have already said they must put chemo on hold until a pretty bad wound (from the vasculitis) and her white cell count both improve. After chemo treatments they hope they will be able to maintain with immunosuppresants. It is indeed frustrating because we take one step forward then 2 backwards because the obstacles we encounter must be dealt with eimmediately usually. However, now having a diagnosis is encouraging. Thanks so much for your reply and I wish you the best of luck!
      Report / Delete Reply
  • Posted

    Hi,

    sorry to hear that your mother is having so many complication.  I also have an issue with mosquito bites.  For the last 2 years I have taken odourless garlic tablets and have not been bitten once since.  I know that this does not touch the surface with her other issues, but every little bit of advice helps.  The Mosquitos use to love me, now they no longer come anywhere near me lol.  I wish your mother well and hopefully she will get some answers soon.  By the way I also have an autoimmune condition called Sjorgrens. X

    Report / Delete Reply
    • Posted

      I apologize for my later response. It has been a chaotic, yet somewhat productive month.

      They are emphasinzing the mosquito bites less now, and the whole thing isn't quite figured out however they think they have more answers. After a 1-week hospitilization & a kidney biopsy due to her kidney having been in danger, they diagnosed her with EPGA which is a type of vasculitis. It is essentially a rare autoimmune disease. They have started chemo and continue with predn., but now have already said they must put chemo on hold until a pretty bad wound (from the vasculitis) and her white cell count both improve. After chemo treatments they hope they will be able to maintain with immunosuppresants. It is indeed frustrating because we take one step forward then 2 backwards because the obstacles we encounter must be dealt with immediately usually. However, now having a diagnosis is encouraging. Thanks so much for your reply and for the suggestion about the odorless garlic-- I am going to make sure that she takes some because I believe mosquito bites are still something she must absolutely avoid.

      I wish you the best of luck with your condition as well. It's amazing how many rare types of disorders there are. I hadn't heard of Sjorgrens X before you mentioned your. God Bless!

       

      Report / Delete Reply
  • Posted

    Sorry to hear about your mom. Interesting to me that she seemed to improve some on a whole foods diet. That is the most encouraging part of what you've written. I hope that she keeps working with those holistic docs. There is evidence in autoimmune conditions that the good gut bacterial that live in us have been altered, affecting the immune system and making it attack self tissues. Antibiotics can have a negative long-term effect on health for that reason. Have they looked for a fungal infection as a possible cause of her chronic sinus infections? I got a severe chronic fungal  sinus infection a number of years ago after having a lot of antibiotics (which can lead to a fungal overgrowth). Whatever she can do to rebuild a healthy gut may help restore health, such as fermented foods and probiotics. One additional thought--have her doctors considered a mast cell activation disorder? I wish you and your mother well and hope that an answer to her diagnosis and healing occurs soon. Best to you!  --Suzanne
    Report / Delete Reply
    • Posted

      Suzanne, Thanks so much for your reply. As you may read above, we have been given a diagnosis. She was told she has EPGA vasculitis (autoimmune disorder). I think she will continue to try to integrate holistic approaches as much as possible, though she has had to start chemo. I think a healthy can take us a very long way. I have never hear of mast cell activation disorder so I don't know if they have ruled it out, though I will certainly inquire about it.

      Thanks so much adn I wish you the best of luck!

      Report / Delete Reply
    • Posted

      Thank you for letting us know that your mom has gotten a diagnosis for this mysterious illness.

      I also have had severe allergic reactions (mostly to antibiotics and a nuclear medicine dye) that included the onset of severe asthma and vasculitis. Until you told us about EPGA vasculitis, I'd never heard about it.

      I hope that your mom has some healing soon. All the best to you both!

      --Suzanne

      Report / Delete Reply
    • Posted

      I can relate to that! I think it is that the immune system is over active - hence the suppressants prescribed in extreme cases.  I have always been over-reactive to insect bites and anything else that my autoimmune system sees as invasive even medication. When more than one "invasion" occurs at the same time it struggles to cope and that's when everything gets out of hand.  In the past year I have been referred to six different departments at the hospital but still have no firm diagnosis. I discovered, from reading other forums, that people with certain blood condtions are advised to take Folic Acid.  The Patient article gives the detail on the use of this supplement.  None of my doctors are prepared to discuss this but all I can say is that it got me through my lowest ebb.
      Report / Delete Reply
  • Posted

    So sorry mums health-please get her checked for Lyme disease and co-infections at INGINEX in US -hope I have spelt it right
    Report / Delete Reply
    • Posted

      Thanks so much for your reply. I do believe she got checked for Lymes multiple times. It was definitely something they kept coming back to because there were definite parallels. Her diagnosis is currently EPGA Vasculitis (a rare autoimmund disorder). Thank you so much for your reply. Best of luck to you!
      Report / Delete Reply
  • Posted

    So sorry for you and your mom and i know that feeling all too well.  My daughter is 18 and was just diagnosed with retroperitonal fibrosis, which is an autoimmune diease which affects all organs.  The only way to diagnose is by a biopsy which we had of my daughters kidney as she was having extreme pain in her back starting in january and many years or so of various infections.  Many doctors are involved as this is such a rare diease.  Your mom may have many different things going on which could be the difficulty your having. I hope your mom finds something rhat works for her. 
    Report / Delete Reply
    • Posted

      Hi Donna-

      I apologize for my later response. It has been a chaotic, yet somewhat productive month. It is so coincidental that they were able to diagnose your daughter after a kidney biospy because that it was recently led to my mom's diagnosis (finally).

      After a 1-week hospitilization & a kidney biopsy due to her kidney having been in danger, they diagnosed her with EPGA which is a type of vasculitis. It is essentially a rare autoimmune disease. They have started chemo and continue with predn., but now have already said they must put chemo on hold until a pretty bad wound (from the vasculitis) and her white cell count both improve. After chemo treatments they hope they will be able to maintain with immunosuppresants.

      I am sorry that your daughter is going through that. She is so young! I really hope that they are able to get it under control for her so that she can have a good quality of life.  I am praying for her and your family.

      Thanks so much for your reply and I wish you the best of luck!

      Report / Delete Reply

Join this discussion or start a new one?

New discussion Reply

Report or request deletion

Thanks for your help!

We want the forums to be a useful resource for our users but it is important to remember that the forums are not moderated or reviewed by doctors and so you should not rely on opinions or advice given by other users in respect of any healthcare matters. Always speak to your doctor before acting and in cases of emergency seek appropriate medical assistance immediately. Use of the forums is subject to our Terms of Use and Privacy Policy and steps will be taken to remove posts identified as being in breach of those terms.

newnav-down newnav-up