Discussions By Condition: I cannot get a diagnosis.

CVID???? Unknown immune disease/blood disorder...baffled!

Posted In: I cannot get a diagnosis. 12 Replies
  • Posted By: lilLBcake
  • February 10, 2007
  • 04:22 PM

I am a 37 y.o. mother. I have been ill for four years now. I am currently on disability. I have had so many specialists look at me...and been so often accused of being nuts that I really don't know where to begin or who to trust within the medical community. I know I want my life back...and I want to enjoy my son...and I am willing to give this one more shot to see if I can find the answer that will work for me. This post might seem disjointed...but nothing about my case seems to make sense.

I am currently being treated for Fowler's syndrome/interstitial cystitis. I have an Interstim implant and I receive pudendal nerve blocks about every six months to control the god awful pain that accompanies this mercless condition. I take Levoxyl for hypothyroidism. I take Flonase and Albuterol to control my constant litany of sinus infection, ear infections, throat infections, bronchitis, colds, and other malingerings that NEVER seem to go away. I am on and off antibiotics a lot...at any given time...for a myriad of infections that when cultured seem to be a bacteria that would be harmless to someone else...but reek havoc with me.

One of trips to a (so called ) specialist was the allergist to see if any of this was caused by an allergy to something...when nothing too specific showed up other than some dust and mold...he ran an immunlogical profile. It came back a mess...he said he couldn't make any sense of it and said I needed to see a really good immunological specialist to further look into it. I live in Jacksonville Florida. He said UCSF was the best place to go...but how do I do that?

Here is what the labs show.

A delta platelet deficiency. Something about half the platelets have the brains that tell them to clot...and half of them do not. What I know from my own history is I never know when going for labs or a surgical procedure or if I fall or if I have a cut will it clot right away or leave awful cheloids...or will I bleed until I am dead. I have had two hemmorhagic episodes and one where I clotted and hommorhaged at the same time that left the ER docs shaking their heads. They blamed me and said I had done something to myself to cause it. How the ***l do I DO something like that?

The immunological labs showed
Immunoglobulin deficiency at the G and M

Immunoglobulin G subclass was deficient at level 1, 2, 3, and 4.

Pneumococcal antibody was shown to be at the low levels of protected across the board.

IGG was greater than 3...but greater than 11 is considered normal.

Lymphocyytes were in the normal ranges but low across the board except for killer cells and absolute NK cells which were non existent. Helper cells were only one point above out of deficient range.

Tetanus came out in normal range.

Oxidative burst came out with an inadequate stimulation pattern twice.

Regular Labs come out consistently schewed.

Hemoglobin and Hematocrit are low with Total RBC normal. RDW is high. Lymphocytes, Neutrophils, and Monocytes come out low...but usually within normal limits. But recently Lymphocytes come out consistently low...15% OR LOWER.

I have been told to stay away from the crowds and the school where my son attends to avoid colds.

I am consistently tired,...exhausted tired. Sleeping over 14 hours per day...and not much energy for anything else besides. Headachey, fevery...although not always...sometimes mmy temperature is so low as to borderline hypothermia (97 or lower).

I have been told it is nothing by my primary....and ignored by my endocrinologist.
To be honest I am scared to death of the medical profession in general and fed up with being told there is nothing REALLY wrong with me.

Does anyone know about this? Does this sound familiar to anybody? Does anyone have a really good diagnostician who is willing to go the extra mile to find the cause....adn then treatment to give me back my life?

Anything is helpful.

Thank you,

Kim

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12 Replies:

  • I suggest that you contact Gailen Marshall at University of Mississippi Medical School. The man is a GOD! He is willing to listen and doesn't treat you like an idiot.
    Anonymous 42789 Replies Flag this Response
  • Are you seeing a hamatologist? Delta storage pool deficiency? Symptoms mention "prone to infection".
    rad-skw 1605 Replies Flag this Response
  • Dear Kim...the name of the treatment that will give you back your life is NAET or Bioset therapy. I prefer Bioset because that is the one I personally attended. Your symptoms sound similar to mine. I have Chronic Fatigue Syndrome. Western docs don't do anything for you except give you a diagnosis and a whole bunch of scripts for pills to mask the symptoms. This therapy gets to the "root" of the problems....I'm a nurse and never would have believed any of it, unless I had experienced it first hand. I have attended 5 treatments and already my sx are 80% better. I am so grateful to Eatafruit78 from here in this forum, for she is the one who gave me the advice. I'm glad I listened...it was the best decision I ever made. There are practicioners everywhere....Best of luck...be well...mommy cat
    mommy cat 1654 Replies Flag this Response
  • This is a long reply, but I have gone through a very similar fight for a diagnosis (or diagnosises). First I was diagnosed with SEVERE allergies (allergic to 62 of 70 things tested on skin test) and had an anaphalytic reaction that had me hospitalized due to my throat swelling almost completely closed. They thought that was the main problem. However, I was constantly exhausted & had recurrent sinus infections/bronchitis/pneumonia since I was a baby. This even included a stay under an oxygen tent at the hospital at the tender age of 4. My entire life I have been fighting illnesses. I too was told to avoid crowds because for some reason my body didn't fight off bacterial infections like it should. Of course, no test was done for this. Other doctors told me I was depressed and sent me to psychiatrists. They (the psychiatrists) in turn told me I had every reason to be depressed due to my continual health problems & the medical community's inability to work with me to find what was really wrong. I am now 32 years old and have been diagnosed with the following:DysautonomiaNarcolepsySevere allergiesHormone imbalances (low estrogen & testosterone/progesterone levels)Low blood volume & low blood pressure (causes me to be unable to stand for more than a couple of minutes without feeling faint)Inability in my body to use potassium to break down calcium causing recurrent kidney stones.I also passed my first kidney stone at age 17 & have now passed over 80 stones - 7 in the past year. This has caused several infections of the kidneys/bladder/etc.Finally, my allergist got concerned that even after having sinus surgery I was continuing to have sinus infections. In fact - if I started sneezing one day I would have a severe sinus infection within 24 hours & if not seen by a doctor in that time it would go into bronchitis within 72 hours. If the doctors tried to put me on an antibiotic that would work on "normal" people it wouldn't work on me & by day 4 or 5 I was into full blown pneumonia. He wondered why my "allergic reactions" were turning into bacterial infections. I was even able to have mono 4 times as well as developing a bad bacterial infection in my throat WHILE ON ANTIBIOTICS for bronchitis. Needless to say I have been more than frustrated & if not for my husband pushing me through all of this I would have given up on doctors years ago. Anyway, the allergist tested my immunoglobulin levels & my IgG was low. I asked for him to test the subclasses as well (even though doctors are still not in agreement as to whether the subclass results mean much of anything). I was low in IgG 1 & IgG 3, but I was barely above the normal line on 2 & 4 as well. I quit work over 2 years ago due to my exhaustion & the stress level of my job (I was a licensed stock broker) seemed to exacerbate all of my "chronic illnesses". I have had some luck with doctors at UAB Kirklin Clinic here in Birmingham. UAB is one of the top 5 medical schools in the country & as a teaching hospital I have found the best care to be there. It is just the fact that the doctors are so busy that it takes a month here, two or three months there just waiting for the next appointment. This slows my progress as you can imagine! However, when you do have an appointment the doctor actually spends a whole hour with you & LISTENS. I had been sent to a rheumatologist there first & his first run of tests came back normal. However, he was the first doctor to look at me & say, "I know you are sick. I can see it. I just don't know if you might be ahead of the medical community & maybe this is some type of autoimmune disease or other ailment that hasn't yet been discovered." He later was able to find the mitral valve prolapse/dysautonomia & referred me to a great cardiologist. I am currently on 13 different prescription medications and still trying hard to take it one day at a time. I can't imagine having a child to look after with all the exhaustion you must be experiencing. I can tell you that in my research of low immunoglobulin levels I have found that the people with low levels of IgG are plagued with constant sinus infections/bronchitis/pneumonia & due to the number of times we have these it can lead to COPD (chronic obstructive pulmonary disease) later in life. The medical articles I have read recommend having chest x-rays done every 6 months or so to keep an eye on any scarring developing in the bronchial tubes and lungs. They also have IV antibody treatments that you can receive every 3-4 weeks or a type of treatment where you give yourself 4 injections but I forgot how often my doctor said that was done. I think it is monthly as well, but I could be wrong. My main advice to you is this - YOU HAVE TO BE YOUR OWN ADVOCATE. I had to print out research articles from Mayo Clinic & other reputable websites showing different diseases or illnesses that had symptoms close to my own. I have gotten over a doctor trying to label me a "hypochondriac" and realized that the doctors who feel this way are really trying to make themselves feel better when they are unable to help me. I actually went from a doctor telling me I may have Hodgkins lymphoma but when the CT scan came back negative & the "normal" blood work tests showed up normal, well, then he talked to me about how depression can have actual physical attributes such as pain and severe fatigue. I asked him to get my medical records and copy them all for me before I left. I took those & went over every lab test he did & just researched & kept on going until I was able to rule out illnesses like MS, lupus, pituitary gland tumors, etc. I now have a folder that includes the results of every test I have had done over the past 3 years. I allow each specialist (of which I have 7) to make copies of all of it. I also give them a print out listing ALL my medications & which specialist prescribes them & what they are prescribed for. Last, but not least, I also give them a list of every specialist I see with addresses & phone numbers. This has really seemed to help them see me as a serious patient and not some whining young woman who is wasting their time. I feel as though I should have at least come close to having 2 years of med school with all the research I do, but I have actually found 3 of my chronic illnesses by my own research. The doctors agreed to do the specific tests to determine if I was right & I was EVERY time. You know your body better than anyone and unfortunately as women, we often are viewed as hormonal, emotional, depressed, etc. whereas a man would be getting the best medical care because they would take his complaints more seriously. In fact, when things really started getting on the fast track was when my husband started going with me to every doctor visit. He would be in his suit & tie & have his briefcase open with a list of questions he had to ask the doctor. I was amazed at the answers he got versus the treatment I had been getting on my own. So I would recommend taking a man with you. Apparently it makes everything more "believable" or "serious" if your husband can vouch for how you are feeling everyday.I would also recommend that you research to find a good hematologist and maybe even an infectious disease specialist. Take all of your records & send them before your appointment so they can review them - then take them to the appointment as well in case they haven't reviewed your case. Some doctors want to actually talk to the patient and do an exam before they want to look at test results in order to not bias them towards one disease or another.I wish you the best of luck. Oh - and if you remain exhausted all the time, I would also recommend seeing a sleep specialist. They can at least help you rule out something simple like sleep apnea, restless leg syndrome & narcolepsy. The more things you rule out, the smaller the list of tests gets :)Good luck!!!
    Anonymous 42789 Replies
    • February 26, 2008
    • 07:51 AM
    • 0
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  • KKP, blaze is on the right track. Get tested for Lyme but only use Bowen Labs in Florida or IGeneX labs in CA as they are the only two labs that test correctly in the whole US.Also look into PCR testing for mycoplasma infections. There are many of them and one person can have several at a time.Depending on what group of symptoms you have and what type of doctor you have will be the key. It sounds like you are suffering an "auto-immune" disease Sounds like CFIDS. I highly suggest NAET as a way to get well. I now have my life back!! Best wishes, mommy cat
    mommy cat 1654 Replies
    • February 27, 2008
    • 05:22 AM
    • 0
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  • This is a very rare condition, and I beleive you should see a geneticist. Try reading up here: http://www.pathology.vcu.edu/clinical/coag/SPD.pdf
    aquila 1263 Replies
    • February 27, 2008
    • 03:32 PM
    • 0
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  • The majority of symptoms sound like Chronic Fatigue & Immunodeficiency Disorder. However, the clotting problem is quite unusual. To hemorrhage AND clot at the same time sounds like DIC, but that's usually fatal. Very weird.
    Anonymous 42789 Replies
    • February 28, 2008
    • 06:53 PM
    • 0
    Flag this Response
  • dfgergt e rgrwg erg wrtgtwrtgewr
    alexesesaas 1 Replies Flag this Response
  • I am a 37 y.o. mother. I have been ill for four years now. I am currently on disability. I have had so many specialists look at me...and been so often accused of being nuts that I really don't know where to begin or who to trust within the medical community. I know I want my life back...and I want to enjoy my son...and I am willing to give this one more shot to see if I can find the answer that will work for me. This post might seem disjointed...but nothing about my case seems to make sense. I am currently being treated for Fowler's syndrome/interstitial cystitis. I have an Interstim implant and I receive pudendal nerve blocks about every six months to control the god awful pain that accompanies this mercless condition. I take Levoxyl for hypothyroidism. I take Flonase and Albuterol to control my constant litany of sinus infection, ear infections, throat infections, bronchitis, colds, and other malingerings that NEVER seem to go away. I am on and off antibiotics a lot...at any given time...for a myriad of infections that when cultured seem to be a bacteria that would be harmless to someone else...but reek havoc with me. One of trips to a (so called ) specialist was the allergist to see if any of this was caused by an allergy to something...when nothing too specific showed up other than some dust and mold...he ran an immunlogical profile. It came back a mess...he said he couldn't make any sense of it and said I needed to see a really good immunological specialist to further look into it. I live in Jacksonville Florida. He said UCSF was the best place to go...but how do I do that?Here is what the labs show.A delta platelet deficiency. Something about half the platelets have the brains that tell them to clot...and half of them do not. What I know from my own history is I never know when going for labs or a surgical procedure or if I fall or if I have a cut will it clot right away or leave awful cheloids...or will I bleed until I am dead. I have had two hemmorhagic episodes and one where I clotted and hommorhaged at the same time that left the ER docs shaking their heads. They blamed me and said I had done something to myself to cause it. How the ***l do I DO something like that?The immunological labs showedImmunoglobulin deficiency at the G and MImmunoglobulin G subclass was deficient at level 1, 2, 3, and 4. Pneumococcal antibody was shown to be at the low levels of protected across the board.IGG was greater than 3...but greater than 11 is considered normal.Lymphocyytes were in the normal ranges but low across the board except for killer cells and absolute NK cells which were non existent. Helper cells were only one point above out of deficient range.Tetanus came out in normal range.Oxidative burst came out with an inadequate stimulation pattern twice.Regular Labs come out consistently schewed.Hemoglobin and Hematocrit are low with Total RBC normal. RDW is high. Lymphocytes, Neutrophils, and Monocytes come out low...but usually within normal limits. But recently Lymphocytes come out consistently low...15% OR LOWER.I have been told to stay away from the crowds and the school where my son attends to avoid colds. I am consistently tired,...exhausted tired. Sleeping over 14 hours per day...and not much energy for anything else besides. Headachey, fevery...although not always...sometimes mmy temperature is so low as to borderline hypothermia (97 or lower). I have been told it is nothing by my primary....and ignored by my endocrinologist. To be honest I am scared to death of the medical profession in general and fed up with being told there is nothing REALLY wrong with me.Does anyone know about this? Does this sound familiar to anybody? Does anyone have a really good diagnostician who is willing to go the extra mile to find the cause....adn then treatment to give me back my life?Anything is helpful.Thank you,KimKim don't give up. the drs. who tell you ,you are crazy don't have an answer and suck at what they do. I have been at this for 3 years and am not as bad off as you are. I can certainly relate to the tiredness, pain and frustration. My CVID is genetic and they have no research. My GP watched me go from 150 Viking to a 108 pound frail old lady of 49 in 3 years. I have 3 teenboys and hope to see at least 1 graduate HS. I research all my own information, when I can eat it is nutrisious food and I try to keep my sence of humor. I am a Christian and pull on the power of God to get me through each day even if I'm puking and miserable He is holding my hair back for me. I will go to my boys wrestling matches I will just have to wear a good fitting N95 mask. Ask your doctor for a bunch of them to get you through the season. Your kids love you and want you to be there so don't worry about what anyone else thinks ,they don't matter only your kid do.My oldest told me to get a pretty scarf and he is going to tell his friends she just can't take the smell of you guys B.O. and ******g but she loves you anyway. I don't know how long I will live they say 55 is average life expectency for women and 28 for men. So I have 5 years give or take to show the world God through me. Tall order espically when you look and feel like crap all the time. But I made my decision to do it and if I get sick which I usually do I 'll take my medicine and start over. Are you Finnish? I am, seems to be more prominent with them. Keep fighting don't give up God still preforms miracles I'm waiting I pray you get yours too. God Bless you and keep you. FYI my IGA is 24 and should be 1700 and my IGG is dropping all 1,2,3,4 is at about 2%, 10% 4% 16% but continues to drop regularly a couple of percentage points each blood test so about every month it goes down about 2% give or take mostly take. Don't give up God Bless Susan
    Anonymous 42789 Replies
    • October 7, 2009
    • 04:32 AM
    • 0
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  • Dear Kim and KKP, I have recently become well enough, myself, to be able to have energy to respond to your thread. Kim has asked for a good diagnostician. I've been ill for five years, presumably after an exposure to farming/molds initiated a genetic predisposition. After three years of consistent infection and antibiotics to include six pneumonias in my first year of illness, and after seeking help through 15 doctors to include such hospitals as Jefferson, Penn, Hopkins and National Jewish, I was blessed to be referenced to an immunologist who is a researcher and who has a global view of approaches to immunology. Dr. Melamed is an entrepreneurial researcher by nature. He moves quickly and travels extensively, but when he meets with you he will treat you with care. I had been treated by other doctors, previously, much like you have described. It seems that American trained doctors feel they must have an immediate answer, and are not curious. I believe this is even more true in immunology because immunology is regarded as a nebulous science within the US. My numbers are within AMA guidelines, but tey are also too low for my particular body to sustain itself. It is a broken system. When I first met with Dr. Melamed I was able to sit up for 20 minutes at a time, had inflammation throughout my body, was unable to digest food, could not think, had acquired over 100 food allergies/sensitivities, and had fluid in my lungs - plus the fatigue, bone pain, muscle pain, rashes, etc. A dysfunctional immune system can affect all systems. Each one of us are affected in differing ways, to include autoimmune symptoms as the dysfunction progresses. As an example, I began to succumb to childhood diseases that my cells should have kept stored away. I have a friend who has constant blood infections. I am still not well, but I am greatly improved and working toward it. I spent 80% of one year in bed with terrible gastric pain prior to my first IVIG infusion. My blood work is still out of whack but showing improvement. Please become diagnosed and treated properly before additional permanent damage will happen to your body. Don't give up - I know how emotionally exhausted you (and your family) may be. At the very least, Dr. Melamed's team will be able to tell you whether they can help. I assume you have had a pneumonia titer to confirm your subclass levels. Most immune disorders are not diagnosed for nine years, and this is often too late for treatment to be of great help. I spent alot of time in Denver, by plane wearing a mask, etc. I am driving this year to avoid H1N1- and I am now treated on a monthly basis at home by a nurse whom the Dr. communicates with. Here is Dr. Melamed's info. Look up Dr. Melamed, 1st Immunology, Centennial, Colorado. Shannon normally answers the phone and she is lovely. Another resource is the Immune Foundation - they can talk with you and help you find a doctor. I found it very difficult to find a doctor who work with with severe immunology deficiencies in adults. Here are some others opinions that I noticed: One of Denver's top and the most knowledgable in his subject.The best part is he has an avid intrest in research and travels all over the world so his knowledge is deep and extensive.If you are unable to find answers to your problems he ...‎www.vitals.com/ratings/660713span.zzNumUsersFoundThisHelpful{display:none};span.zzNumUsersFoundThisHelpfulActive{display:inline}0 out of 0 people found this review helpful. Was this review helpful? Yes - ] By Vitals.com - Nov 29, 2009When asked to provide an overall rating on Dr. Isaac Melamed in seven areas of care and service, Vitals users responded on average with an rating of "Excellent". Vitals users responded with an average rating of "Good" when responding Nov 5, 2009One of the best in his field,knows the latest happenings in the world of medicine.Very good and accurate diagnosis.Have seen him for 10+ yaers,only wish the wait time to see him at his clinic is lesser.Some of his PA's are very sweet and ...‎www.vitals.com/ratings/277782span.zzNumUsersFoundThisHelpful{display:none};span.zzNumUsersFoundThisHelpfulActive{display:inline}0 out of 0 people found this review helpful. Was this review helpful? Yes - .‎By mominco - Aug 23, 2008One of Denver's top and the most knowledgable in his subject.The best part is he has an avid intrest in research and travels all over the world so his knowledge is deep and extensive.If you are... ...
    Catharine 4 Replies
    • January 10, 2010
    • 04:17 AM
    • 0
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  • Kim,I also live in the Jacksonville area and have CFIDS. No one in this area has any clue how to treat my illness! Mayo Clinic made my original diagnosis, but this was quickly followed by " go home and rest and we don't know how to treat this." Two years after that I got in with a doctor in Miami that actually understands the illness and treats me like a human. The appointments may be farther away, but I am getting something out of them. My progress has been slow, but Im thrilled to have any and excited to know there is hope!!! Look up Dr. Nancy Klimas and Dr. Irma Rey. They just left University of Miami and started their own clinic.Good luck!
    Sandkisses 1 Replies
    • February 5, 2012
    • 06:05 AM
    • 0
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  • unknown immune dis; Hi, just signed up will write my story after Dr. appt. but just found forum&wanted 2 reply;U sound alot like me+un&misdiagnosed 7+yrs,recently diagnosed w/mast cell disease/mastocytosis(&histiocytosis).Low IGG(1st&only good Dr is now a drug researcher,hvnt saw a good one since he said even slightly low IGG,etc.is bad b.c want u on hi end),IGE,V.high IGA Serum,severe bone burning&pain,muscle pain,joints,severe fatique-but dnt sleep,recurrent infections,v.ill if eat fast food since child,if get a cold its broncitis them pnemonia w-in a month,thou get re vaccinated w/specific one that r low-pnennumicoccal +pnemonnia vaccine,childhood vaccines were all dead except Tetinus which is 10Xs high but when had major cuts i always get Tet shot.,itching,swollen lymph nodes,sore throat,now gastro issues,etc.etc..I went from owning my own business 20yrs,perfect credit score,beautiful house,etc,etc.,went from Superwomen to being homeless in 1+1/2yrs,b.c.cdnt get help or pain under control,got disability 2yrs ago thought itd wld held getn diagnosed,not a chance!wld all just write scrips,felt like a guinea pig 1st cpl yrs being on 13meds@a X,was a zombie-quit taking all but v.strong pain meds which ben en on for yrs&just take edge off,but b.c am on pain med other than slightly low iggs,etc.drs cdnt find anything wrong so drs dnt take me seriously.Dr. apt.2day,but saw him b4 diagnosed hes an arrogant idiot!but knows about M.Cell Disease!(i live is semi-rural area,no good hosp or Drs close)Im praying he helps me even thou diagnosed no help yet,also said was in my head,Wrong!.GOOGLE& GET CHECKED FOR MAST CELL DISEASE/MASTOCYTOSIS&maybe HISTIOCYTOSIS too!. GOOD LUCK!!!
    suziequz 1 Replies
    • February 20, 2012
    • 03:08 PM
    • 0
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