cobbiemommy

Dr B or Dr. J will treat mycoplasma. My son's IGg was over 5.0 (very high) and after treating for a year, it is below 3.75. If you are interested in research, look up Dr. Garth Nicholson and Gulf War Syndrome. He finds that Mycoplasma is a big trigger for these problems.

Paternal grandfather had type 1 diabetes, I (mother) have horrible allergies and thyroid issues. I also had Scarlet fever as a teenager along wtih multiple ear infections.

I don't think you can include an Amish population when comparing modern day research groups because they do not immunize their children. Immunizations alert the immune system and for children like my kiddo who has an overactive immune system, it is a part of his overall problem. I also don't claim my child is part of an epidemic; I think each child is unique and has their own immunologic stressors.

I grew up in MO with no air conditioning and a Mother who liked to clean. Her mother (my Grandmother) was a nurse and they lived on a farm in the 1930's before they had electricity and modern cleaning products and had allergies and health issues. My mother had horrible allergies her whole life from the time she was little. She almost died after being stung by a bee when she was nine. I was the youngest of seven children and had horrible allergies; my eyes used to swell shut in ragweed season when I was a kid in the 70s. I used to play in the dirt and slept with open windows every night in the spring, summer and fall. I will have an anaphylactic reaction if I have even a bite of melon. My brother spent a month at the University of Missouri hospital in 1967 after he almost died from nephritis caused by an infection. It was an autoimmune reaction. You will never meet a rowdier guy who loved to be outside with the dogs, the cats, and dirt. My husband and I live on a farm on a gravel road and my son played in the mud, had a cow that they maintained, and he has autoimmune disease. I think the hygene hypothesis is just another way of blaming moms for being "too clean", kind of like blaming Refrigerator Moms who were "too cold". I think a genetic component is a more accurate basis for investigation with regards to our children having autoimmune disease!

H*** yes, you feel like you are hung out to dry while you wait. We are in the waiting game because insurance decided to play nasty with us after originally approving our son because of immune deficiency they have denied all claims and doc will go no further without getting paid. Imagine that... Hang in there.

They are very helpful. I was on their website earlier about IVIg appeals. DS was diagnosed with primary immunodeficiency and they have been very kind to us as well!

I need some practical advice from anyone who has had this happen to them. DS, 13, was precertified for IVIg for primary immunodeficiency. He had three IVIg at doctor's office every eight weeks. We were about to go for number four when docotor's office said not to come because insurance was not paying for them, even though it was precertified. Insurance company was supposed to fast track appeal and that led nowhere. We hired K Flynn of Healthcare Advocates to appeal our case. He says our only ace is that it was a precertified claim. He predicts they will deny our appeal several times and then end up paying for the IVIg already performed. No idea about going forward and what will happen with future IVIg. This is so maddening. Can't get treatment, can't afford treatment without insurance ($30,000 each), and son can't seem to get better without it. We were on a nice upward trajectory until Evil Insurance got in the way! Any ideas... Cobbie

Don't forget to have your own thyroid and hormone levels checked. Stress can do a number on these vital systems. My mood has greatly improved by switching from Synthroid to Armour. I also get a B12 shot and a tiny (really really small) amount of testosterone. The difference is amazing.

Thank you LLM, and this is why I should stick to History and not try medicine! I was interpreting what I read in the wrong way, but it makes a lot more sense this way. Our appt is not until mid March and I thought I would get a head start on the research. (Bad plan) I will go back and slowly reread about the Kreb's cycle... I hope I can pick your brain in the future... Sincerely, Cobbie

OKay..... After doing my research, DS has a variant of H109R on the LETM1 gene. This means he has an inborn defect of dimethylglycine dehydrogenase (DMGDH) which has to do with folate and the binding of histadine to arginine. The end result is that the body does not methylate properly. There are prescription forms of L5-MTHF available at dosages that are 99% absorbed. These can be in doses from 7.5 mg to 15 mg. Until that time, we are going with a supplement purchased online. The big question is for those who have went before me...What dosage??? Do you ramp up or just jump right in on whole dose? Secondary to that, at what point did you see benefits??? While I am not happy there is a genetic issue, I am kind of happy to know there is a possible treatment. Have a good night! Cobbie

We did Valtrex with no side effects, but no great gains. Did ten days of Valtrex.

After someone else questioned about upping the dose of their antibiotic I looked at the treatment dose for Augmentin XR. Turns out it is 2000 mg 2 times a day for a child that is my son's size. He would be on the adult dose. He is only taking 1000 mg twice a day. Any thoughts as to why the dose is half the treatment dose???? He has not been able to have IVIG since October and with a few good days, we are really struggling. I just don't know what to think any more. Cobbie

We will be using creatine, theanine, Coenzyme Q10, and Carnitor. I believe those are all the ingredients.

I've heard this concern from others as well but I'm not sure I understand it. I'm paying for this test out of pocket and without a doctor's signature - no insurance company or doctor will have a record of my ordering this test. Second, I've selected the "do not share" option for the test. So 23andMe cannot share my info with other researchers outside of the company or on the member forums in an aggregated form. Third, after I get the results and digest them, I'll submit a written instruction telling 23andMe to permanently delete my records. Granted, during the few months they have access to my data, they can pool it into current research, so there is a small risk my family data will still get out there. But I think getting an idea of how to fix various issues outweighs this risk. Finally, in 2008, congress passed and Bush signed the Genetic Nondiscrimination Act which prohibits the use of genetic information in health insurance and employment. The Act prohibits group health plans and health insurers from denying coverage to a healthy individual or charging that person higher premiums based solely on a genetic predisposition to developing a disease in the future. The legislation also bars employers from using individuals' genetic information when making hiring, firing, job placement, or promotion decisions. Dr. T ordered the "mito cocktail" which includes coenzyme q-10, carnitor (l carnitine in prescription form), thiamine, riboflavin, vitamins c and e, folic acid, and creatine powder. We have only started the coenzyme q10 while we wait for the medicine to be compounded. It is helping though. So I can understand a certain angst about having very private data be stolen/abused but I'm not sure I fully understand your concerns. Can you help me out (sincere question - even tho it's too late for me to change my decision). Landamom - thanks. I do know about genetic genie - just haven't explored it yet and suspect I'll still have to do an awful lot of leg work - can't see why 23andMe can't at least translate the results into some understandable format in the first place. But I guess that's the extra value Yasko adds for the additional $350 for her test. If I only had one kid, it might be worth it. But with two, I can't afford the $700 for someone else to do the interpreting. Cobbie - I too would love to know what you're doing for mitochondrial support and if it's helping...if you don't mind sharing

DS tested positive for strep while on Doxycycline and Rifampin. It was also in his nose. Augmentin XR cleared it, but he is still taking Augmentin to prevent Strep. Good luck!

Maybe by whipping the viruses butt, the immune system can then focus on the Bartonella??? Just as long as that stuff goes away!

I'm not sure exactly what is happening to DS, but I think he is having a Bartonella herx. We are on day six of Valtrex for Coxsackie/Epstein Barr virus. Since yesterday he has been having some chest pains. Today, the Bartonella rash is back with a vengeance along the sides of his torso. We have not had a noticable herx since July. Maybe we have broke something loose! Cobbie

DS, has only one copy (as opposed to two) of the LETM1 gene. The LETM1 gene provides instructions for making a protein whose function is not well understood. This protein is active in mitochondria, which are structures within cells that convert the energy from food into a form that cells can use. The LETM1 protein may be involved in the transport of charged calcium atoms (calcium ions) across membranes within mitochondria. Researchers suspect that the protein also plays a role in determining the shape and volume of mitochondria. He started supplementation for mitochondrial disorder. We are only on day five, so it is too soon to tell if that is helping. I also share the concerns about opening Pandora's box as it relates to insurance. Interesting thread. Cobbie

This is copied from Medscape. This sounds like nothing to mess around with... (Sorry it is so long) Antimicrobial therapy is indicated in virtually all Enterobacter infections. With few exceptions, the major classes of antibiotics used to manage infections with these bacteria include the beta-lactams, carbapenems, the fluoroquinolones, the aminoglycosides, and TMP-SMZ. Because most Enterobacter species are either very resistant to many agents or can develop resistance during antimicrobial therapy, the choice of appropriate antimicrobial agents is complicated. Consultation with experts in infectious diseases and microbiology is usually indicated. In 2006, Paterson published a good review of resistance among various Enterobacteriaceae.[20] Ritchie et al (2009) published a good discussion regarding antibiotic choices for infection encountered in the ICU.[21] Newer options include tigecycline. Although not indicated specifically for Enterobacter pneumonia or bloodstream infections, tigecycline has excellent in vitro activity against these gram-negative bacilli.[22, 23, 24] In one laboratory study of multidrug-resistant gram-negative bacilli, tigecycline maintained a low MIC against all of the organisms.[25] Older options might include intravenous administration of polymyxin B or colistin, drugs that are rarely used, even in large medical centers, and for which standard susceptibility criteria are not available. A study of 89 carbapenem nonsusceptible Enterobacteriaceae isolates from China showed that polymyxin B was much more active than tigecycline.[26] •Beta-lactams ◦With rare exceptions, E cloacae, E aerogenes, and most other Enterobacter species are resistant to the narrow-spectrum penicillins that traditionally have good activity against other Enterobacteriaceae such as E coli (eg, ampicillin, amoxicillin) and to first-generation and second-generation cephalosporins (eg, cefazolin, cefuroxime). They also are usually resistant to cephamycins such as cefoxitin. Initial resistance to third-generation cephalosporins (eg, ceftriaxone, cefotaxime, ceftazidime) and extended-spectrum penicillins (eg, ticarcillin, azlocillin, piperacillin) varies but can develop during treatment. The activity of the fourth-generation cephalosporins (eg, cefepime) is fair, and the activity of the carbapenems (eg, imipenem, meropenem, ertapenem, doripenem) is excellent. However, resistance has been reported, even to these agents. ◦The bacteria designated by the acronym SERMOR-PROVENF (SER = Serratia, MOR = Morganella, PROV = Providencia, EN = Enterobacter, F = freundii for Citrobacter freundii) have similar, although not identical, chromosomal beta-lactamase genes that are inducible. With Enterobacter, the expression of the gene AmpC is repressed, but derepression can be induced by beta-lactams. Of these inducible bacteria, mutants with constitutive hyperproduction of beta-lactamases can emerge at a rate between 105 and 108. These mutants are highly resistant to most beta-lactam antibiotics and are considered stably derepressed. ◦AmpC beta-lactamases are cephalosporinases from the functional group 1 and molecular class C in the Bush-Jacoby-Medeiros classification of beta-lactamases. They are not inhibited by beta-lactamase inhibitors (eg, clavulanic acid, tazobactam, sulbactam). Ampicillin and amoxicillin, first- and second-generation cephalosporins, and cephamycins are strong AmpC beta-lactamase inducers. They are also rapidly inactivated by these beta-lactamases; thus, resistance is readily documented in vitro but may emerge rapidly in vivo. Jacoby (2009) recently published a good discussion about the emerging importance of AmpC beta-lactamases.[27] ◦Third-generation cephalosporins and extended-spectrum penicillins, although labile to AmpC beta-lactamases, are weak inducers. Resistance is expressed in vitro only with bacteria that are in a state of stable derepression (mutant hyperproducers of beta-lactamases). However, the physician must understand that organisms considered susceptible with in vitro testing can become resistant during treatment by the following sequence of events: (1) induction of AmpC beta-lactamases, (2) mutation among induced strains, (3) hyperproduction of AmpC beta-lactamases by mutants (stable derepression), and (4) selection of the resistant mutants (the wild type sensitive organisms being killed by the antibiotic). ◦For unknown reasons, extended-spectrum penicillins are less selective than third-generation cephalosporins. The in-therapy resistance phenomenon is less common with carboxy, ureido (eg, piperacillin), or acylaminopenicillins. This phenomenon has been well documented as a cause of treatment failure with pneumonia and bacteremia; however, the phenomenon is rare with UTIs. ◦The fourth-generation cephalosporins are relatively stable to the action of AmpC beta-lactamases; consequently, they retain moderate activity against the mutant strains of Enterobacter, hyperproducing AmpC beta-lactamases. ◦Carbapenems are strong AmpC beta-lactamase inducers, but they remain very stable to the action of these beta-lactamases. As a consequence, no resistance to carbapenems, either in vitro or in vivo, can be attributed to AmpC beta-lactamases. However, Enterobacter species can develop resistance to carbapenems via other mechanisms. The New Delhi metallo-beta-lactamase (NDM-1) has affected Enterobacter species around the world.[28, 29, 30] ◦The production of extended-spectrum beta-lactamases (ESBLs) has been documented in Enterobacter. Usually, these ESBLs are TEM1 -derived or SHV1 -derived enzymes, and they have been reported since 1983 in Klebsiella pneumoniae, Klebsiella oxytoca, and E coli. Bush et al classify these ESBLs in group 2be and in molecular class A in their beta-lactamase classification.[31] The location of these enzymes on plasmids favors their transfer between bacteria of the same and of different genera. Many other gram-negative bacilli may also possess such resistant plasmids. ◦Among Enterobacter species, reports indicate that E aerogenes has been the most common carrier of ESBL. Unlike the AmpC beta-lactamases, these enzymes are encoded by plasmid DNA and do not possess a molecular mechanism of induction or stable derepression. They are inactivated by the beta-lactamase inhibitors and remain susceptible to cefoxitin (testing cefoxitin is then a useful tool to help differentiate AmpC beta-lactamases from ESBLs). ◦Bacteria-producing ESBLs should be considered resistant to all generations of cephalosporins, all penicillins, and to the monobactams such as aztreonam, even if the in vitro susceptibilities are in the sensitive range according to the CLSI breakpoints. In the past, the CLSI has cautioned physicians regarding the absence of a good correlation with susceptibility when its breakpoints are applied to ESBL-producing bacteria. ◦In 1999, the CLSI published guidelines for presumptive identification and for confirmation of ESBL production by Klebsiella and E coli, guidelines that are often applied to other Enterobacteriaceae. From the above, one can conclude that, when a bacterium of the genus Enterobacter produces ESBL(s) (more than 1 ESBL can be produced by the same bacteria), it does so in addition to the AmpC beta-lactamases that are always present, either in states of inducibility or in states of stable derepression. With stable derepressed mutants, ESBL is almost impossible to detect unless molecular methods such as polymerase chain reaction (PCR) or isoelectric focusing (IEF) electrophoresis are used. For inducible strains, no recommendations have been issued by the CLSI for the detection of ESBL (ie, if PCR and IEF electrophoresis are not readily available). ◦Carbapenems are the most reliable beta-lactam drugs for the treatment of severe Enterobacter infections, and fourth-generation cephalosporins are a distant second choice. The association of an extended-spectrum penicillin with a beta-lactamase inhibitor remains a controversial issue for therapy of ESBL-producing organisms. ◦Resistance to carbapenems is rare but has been reported and is considered an emerging clinical threat posed by Enterobacter species, as well as by other Enterobacteriaceae.[28, 29] The beta-lactamases first implicated in imipenem resistance were NMC-A and IMI-1, both molecular class A and functional group 2f carbapenemases, which are inhibited by clavulanic acid and then able to hydrolyze all the beta-lactams not associated with a beta-lactamase inhibitor. ◦Hyperproduction (stable derepression) of AmpC beta-lactamases associated with some decrease in permeability to the carbapenems may also cause resistance to these agents. In vitro low-level ertapenem resistance was not associated with resistance to imipenem or meropenem, but high-level ertapenem resistance predicted resistance to the other carbapenems.[32] ◦Metallo-beta-lactamases cause resistance across the carbapenem class, are transmissible, and have been associated with clinical outbreaks in hospitals worldwide. In one reported outbreak of 17 cases of infection (2 due to Enterobacter species), molecular studies demonstrated presence of a gene belonging to bla(VIM-1) cluster.[33] KPC-type carbapenemases have emerged in New York City.[20] The new NDM-1 carbapenemase has already rapidly spread to many countries.[8] •Aminoglycosides ◦Aminoglycoside resistance is relatively common and varies widely among centers. ◦As with other members of Enterobacteriaceae, this resistance results from the production of different aminoglycoside-inactivating enzymes. •Quinolones and TMP-SMZ ◦Resistance to fluoroquinolones is relatively rare but may be high in some parts of the world. ◦Resistance to TMP-SMZ is more common. •Colistin and polymyxin B: These drugs are being used more frequently to treat serious infection caused by multidrug-resistant organisms, sometimes as monotherapy or in combination with other antibiotics. Clinical experience, including documentation of success rates and attributable mortality is broadening.[34] [35] Heteroresistance to colistin was demonstrated in a few Enterobacter isolates collected from ICU patients and was best identified using broth microdilution, agar dilution, or E-test methods.[36] Polymyxin B was not as active against Enterobacter species as it was against other Enterobacteriaceae but did demonstrate an MIC50 of less than or equal to 1, with 83% of Enterobacter isolates considered susceptible.[37] One recent in vitro study documented a colistin MIC90 of 2 mcg/mL or less in more than 90% of Enterobacter isolates from Canada.[38]

We are on day 5 of a ten day dose of Valtrex. We started him on Thyroid meds the same day. He does seem to have more energy, but that is the only bump we have had so far. Hope it works.

May I ask which MD you saw that did such thorough testing? DR T. He had the benefit of a lot of immunologic testing before he ordered all these tests. If you go to him, I recommend taking someone with you because a lot of this stuff was over my head and I could not remember the few questions that I had prepared. Oops.

Courtagen is the lab. They do genetic testing. It was a spit test, very non invasive. Whoo hoo....

1) Thyroid issue-Hypothyroidism. T4 is too low. This is a downstream reaction from what is happening at the (?) TRH level. Treat with 30 mg of Armour to begin. Test in one month. Generally a treatment that works well for the mother, works well for the child. I have hypothyroidism and take Armour. 2) Courtagen testing. There is a genetic issue relating to the excess production of free radicals. CO enzyme Q10 at 200 mg three times a day to detox the free radicals. Treatment-given a scrip for medication that can be compounded to fight off free radicals. Could buy supplements individually, but this may work better. 3) Genetic issue relating to only one copy of the gene that affects toll like receptors (LETM1???). Toll like receptors are part of the innate immune response and may play a part in poor recognition of viruses and bacteria and the body’s response. Husband and I need to be checked for the same genetic issue. 4) Need to find a super thorough immunologist that works with genetics. Try through Jeffrey Modell foundation. 5) Histadine to arginine problem. Can't remember all of the details on this. 6) Treatment dose of Valtrex for 10 days to address Coxsackie virus/Epstein Barr virus.

Yeah. They are the same. DS, tested positive for Epstein Barr. He has been wiped out for months.

He did check for copper and zinc issues. We do go to an LLMD, Dr. J. Turns out we have plenty of issues, some genetic. Tomorrow, when I am home and can focus on it more, I will have many question to ask.