Forum Replies Created
December 17, 2012 at 5:32 pm in reply to: CBS gene mutations being investigated in Ehlers-Danlos. #3224
Thanks, Dr. Diana! I missed the facebook discussion so I’ll check that out. I did see your video. I’m so glad you and your kids don’t have any methylation pathway mutations… I had twelve and two are homozygous! I know it is NOT the end all be all…. just part of the puzzle for me. I know the answer isn’t down any one rabbit trail and having spoken to you on the phone… I know you are going to have more answers for us soon. Blessings to you and yours this holiday season! Big Hugs! SweetFeatherDecember 17, 2012 at 2:32 pm in reply to: CBS gene mutations being investigated in Ehlers-Danlos. #3219
Thanks for sharing Issie! Have you tried low carb grain free? My resting heart rates dropped an average of 20 points following a low carb grain free diet. That showed me that keeping insulin and leptin in control is critical for me to minimize my brain inflammation. That coupled with learning researchers want to rename alzheimer’s “type 3 diabetes” helps keep me motivated to keep carbs low. But with CBS too much protein can be a problem… because of sulfur!!! What to do???? What to do???? I love Maria Emmerich’s blog for her coconut flour and almond flour recipes. I’m looking for a provider who knows how to deal with CBS mutations because according to Dr. Yasko they must be addressed first. Please PM me if you have any suggestions. Thanks! My best, SweetFeather
PS. Issie did you check for celiac markers? Sterling Hill of MTHFR SUPPORT found I have several celiac markers… I’ve been gluten free for three years but if I’d known this earlier it could have made a huge difference in my health. I had NEGATIVE tests for celiac so those aren’t always accurate and even a biopsy can miss it… I had a postive response to diet and now I have genes to check for in my kids.December 15, 2012 at 4:00 pm in reply to: CBS gene mutations being investigated in Ehlers-Danlos. #3218
Give My Daughter The Shot!, 23andMe testing just dropped to $99 plus shipping because they’ve received $50 million in additional funding and they are trying to reach a million people. The NIH recently awarded them over a half million dollars for three research projects… one on allergy and asthma. YAH!!!!
I had dismissed MTHFR before…. thinking “neural tube defects don’t run in my family” but the methylation pathway involves so much more than MTHFR and neural tube defects. Homocysteine and B12 are involved and having high levels of both… can be an indication of MTHFR and other methylation pathway mutations.
Dr. Amy Yasko (she’s the main researcher behind the methylation pathway and whose protocol is the base for the other “simplified” versions) she has videos, testing, proprietary and other supplements.) Her book “Autism: Pathways To Recovery” is free for download on her website. Methylation Pathways mutations don’t just cause autism… it depends on when the methylation pathway breaks down! Her previous book was called “Genetic Bypass” and I think she’d reach more people with a title like that but because autistic kids are so sick she’s concentrating on helping getting them well. She’s a bit controversial because of her extensive supplement regime but her research is the basis for all the other protocols.
Dr. Stephen Smith MD of NW Integrative Medicine (see his website for a video on MTHFR and Glutathione and a link to his two mind maps at mindmeister.com on MTHFR symptoms and treatment) (His video says at 3:09 that B12 is usually high in people with MTHFR “because they just can’t convert it”)
Dr. Neil Rawlins MD: watch his 4 part you tube video and see his “simplified protocol” (Methyl-life.com’s “Resources” has his links among others)
Dr. Ben Lynch (watch his you tube presentation and read his website Mthfr.net … he sells “Seeking Health” supplements (see: “MTHFR C677T Mutation: Basic Protocol”)
Dr. Rich VanKonynenburg Ph.d (chronic fatigue researcher… sadly he recently passed away. His simplified protocol is at the “Phoenix Rising” Forum, Dr. Smith has a link to his videos)
Phoenix Rising.me’s forum under “Detox: Methylation; B12; Glutathione; Chelation” has Dr. Rich VanK’s “simplified methylation protocol” and a poster named “Freddd” has developed a B-12 treatment plan. There’s a lot of info on this site!
Dr. James Roberts (cardiologist who uses Yasko’s testing has outlined possible treatments based on Yasko… see “Heartfixer nutrigenomics”
April Ward-Hauge MS, NP, BCIM: Nutrigenomics & Integrative Medicine (see “Your Body Chemistry” for an easy to understand explanation of methylation.)
Dana at danachronicallyliving’s blog developed a spreadsheet… see “Determining Your Yasko Methylation Results from 23andme Data”
“Genetic Genie dot org” used Dana’s spreadsheet as the basis for their conversion programming.
Google: High Homocysteine and MTHFR at PubMed
I did the 23andMe and I ran my results through “Genetic Genie.” The CBS mutations were the tip of the iceburg. I found I have over a dozen mutations in the “methylation pathway” and a hemochromatosis gene!!! (BTW, anyone with elevated liver enzymes… one cause often missed is hemochromatosis… google iron disorders.org)
I contacted Sterling Hill of MTHFR SUPPORT through her facebook and scheduled a consult to have her analyze my data. She found other genes which may be indicated in chronic illness and she taught me how to do more research on my 23andMe raw data using SNPedia and 1000 genes. Her fee was very reasonable and I HIGHLY recommend her!!!!!
My 23andMe only took a couple of weeks to get results… it may take longer now because so many people already on there are having multiple family members tested since the price dropped from $299. See MTHFR SUPPORT for Sterling’s comparison of Yasko and 23andMe’s testing and the other genes relating to chronic illness to help you decide if you want to go with Yasko or 23andMe or do both.
My best, SweetFeatherDecember 15, 2012 at 2:19 pm in reply to: CBS gene mutations being investigated in Ehlers-Danlos. #3217
jiiiMEnz, I’m hoping Dr. Diana will have a chance to chime in here! She has said that some with sulfa allergies tolerate it but you must discuss this with your physician and let them decide if you could do a doctor-supervised trial.
A PubMed search:
Evidently, “It’s a not so simple story”
High Alt Med Biol. 2010 Winter;11(4):319-23. doi: 10.1089/ham.2010.1051.
“Acetazolamide and sulfonamide allergy: a not so simple story.”
“We also examine the different clinical presentations of allergy and adverse reactions, from simple cutaneous reactions with no sequelae through Stevens-Johnson syndrome and anaphylaxis, with risk for significant morbidity and mortality. We offer a systematic approach to determine whether acetazolamide is a safe option for those with a history of allergy to sulfonamides.”
Can Fam Physician. 2006 November 10; 52(11): 1434–1438.
“Approach to managing patients with sulfa allergy.”December 14, 2012 at 3:31 am in reply to: CBS gene mutations being investigated in Ehlers-Danlos. #3212
“OMIM gene information: 613381 OMIM disorders: 236200
UniProtKB/Swiss-Prot: CBS_HUMAN, P35520
Defects in CBS are the cause of cystathionine beta-synthase deficiency (CBSD) [MIM:236200]. CBSD is an
enzymatic deficiency resulting in altered sulfur metabolism and homocystinuria. The clinical features of untreated
homocystinuria due to CBS deficiency include myopia, ectopia lentis, mental retardation, skeletal anomalies resembling
Marfan syndrome, and thromboembolic events. Light skin and hair can also be present. Biochemical features include
increased urinary homocystine and methionine.”
For red eyes, ask your daughter’s doctor about Kroger’s itchy eyes drops which is ketotifen and OTC.
Also… check shampoos and conditioners for allergens… especially for hidden wheat. Facial rashes can be from hair products!
Another med to look into is hydroxyzine (Atarax). It is an antihistamine recommended by Dr. Theoharides of mastcellmasterdotcom because it crosses the BBB to settle mast cells in the brain. My son and I have improved dramatically taking 10 mg of Atarax at night. It has helped our heart rates and our inattentive ADD/word finding problems.
I had a sandpaper like rash on my upper arms my entire life which completely cleared after a few MONTHS being gluten free. I had had blood testing for celiac which was negative but despite that I tried and had a positive result to a gluten free diet trial. For sinus issues my son and I both have had excellent results with Nasalcrom. I double dose myself and sniff hard to get some to go down my throat every morning and have stopped getting bronchitis/pneumonia. Of course, check with your doctor. Be careful about histamine in foods… leftover meats are really high in histamine. I got sicker on GAPS because of the added histamine in fermented veggies and long simmering meat and broths. I can get abdominal pain and bloating when I eat foods with too much histamine. It is a barrel-effect so you can get away with some foods sometimes and not others. I highly recommend Maria Emmerich’s blog and books for gluten-free low carb HEALTHY food recipes which my kids love to eat!
Ask your doctor about a trial with Atarax (hydroxyzine). Research Dr. Theoharides research on mast cells at mastcellmasterdotcom. Atarax crosses the BBB so it effects mast cells in the brain. My attention, memory, word finding, anxiety, etc has improved dramatically on Atarax. It made me really sleepy at first so I started just taking it at night and then tiny pieces of a pill in the morning and slowly worked up to tolerate 10 mg doses during the day. Atarax and NasalCrom have helped me the most. Recently I’ve gone from being gluten free to also removing corn, potatoes, and rice and my resting heart rate has dropped and my BP’s have gone up a bit to be within the normal range (I usually have low bp) so tweaking diet might be worth a try too. I really like Maria Emmerich’s blog and books.
You could have her try Skins Travel and Recovery Tights… they are used by athlete’s and offer compression from foot to waist. They look sporty and last a lot longer than compression stockings! Shop around, I found them cheaper somewhere else… but you can read about them here:
My son (14) who has POTS and I both swear by SmartWater. We like it better than Gatorade. I wrote a note to the school last year so his teachers would let him take it to class. Eating salty snacks and drinking a lot of SmartWater keeps my son’s POTS under control but he has a mild case. He also takes NasalCrom which has stopped his chronic sinusitis and he really likes Claritin reditabs which is great because I don’t have to remind him to take it. I’m hoping his doctor will have him do a trial with Atarax since it has helped me so much. Best of luck to you finding what works best for your daughter. We have to be detectives!
Read more about mast cells on Dr. Theoharides site and the antihistamine called Atarax (hydroxyzine) which crosses the BBB. I had to start with only tiny pieces of a pill during the day or I’d be too sleepy but I’m now able to take 10mg doses during the day without feeling sleepy. I take 25 mg at night and awake in the morning feeling rested and not groggy. The difference in my cognitive function has been dramatic and I’m off my ADHD-inattentive meds completely. My memory, attention, and problem solving have dramatically improved and I haven’t had any major mast cell degranulation episodes. My resting heart rate is lower now too.July 14, 2012 at 1:32 am in reply to: DOCTOR SAYS NO DIAMOX W/O POTS CONFIRMATION, BUT CAN'T GET PAST HALTER MONITOR #2608
We had multiple failed attempts to “catch” my son’s high heart rate at the doctor’s office because he can be delayed depending on: hydration/dehydration, time of day, etc. I was so fed up not being able to PROVE my son’s inattentive ADHD symptoms were from POTS, I gave him a poor man’s tilt table and he spontaneously VOMITED. I freaked and took him AGAIN to the clinic where they told me “he must be getting the flu” after they’d only test his heart rate for ten minutes of standing. Frustrated, I bought an iPHONE, Digifit connect 2, and a Garmin chest strap and paid for a Digifit iCardio download from itunes. I strapped that strap on my son, put the Connect2 into the bottom of the iphone, started the iCardio, and put the phone in my son’s cargo pants pocket and sent him to school. I met him at lunch and VOILA! VINDICATION. PROOF!!!! Without any PE, his heart rate was as high as 150 and averaging 120 for most of the morning just sitting in class!!!! I took my son and my iphone to the doctor and showed her the heart rate chart and Voila! That Visual chart got her attention and we left with a referral to a pediatric cardiologist who diagnosed him with…. POTS. But she doesn’t care for POTS patients so she is referring him to a neurologist….
I think Dr. Diana’s latest video is spot on.. we have so many more dysautonomic symptoms than “just POTS” that saying “I have dysautonomia” rather than “I have POTS” may be helpful for us.
NasalCrom has saved me a ton of money and possibly even my life. I was constantly getting sinus infections which would move into throat infections which would move into pnuemonias one after the other after the other. Using NasalCrom every morning and night and up to four times a day when having nasal symptoms (running or congested) I have broken my cycle of near constant infections. I think because it keeps me from getting a lot of mucus which is a perfect breeding ground for infections, it prevents me from getting so many infections. (If I feel like I’m getting sick I use two inhalations in each nostril and breathe in hard so I can feel it dripping down my throat…. ask your Dr about that as it isn’t on the directions to do that.) I had been sick so often, my doctor ordered immune deficiency testing. Testing indicated my immune system was fine? How could that be and I was sick all the time? Well, NasalCrom has stopped that! Because I have antibiotic allergies to most of the classes of antibiotics, NasalCrom, may have kept me from getting a life-threatening infection. The last couple of times I had pneumonia it was nip and tuck. So… for me, NasalCrom is worth it’s weight in gold.
Are you chemically sensitive as in you avoid the detergent aisle like the plague? Does “air-freshener” make you feel sick? If so… NasalCrom helps me with those issues too although I still avoid them as much as I can…
Do you sleep with a soft cervical collar? I experimented with Dr. Diana’s suggestion to sleep with a soft cervical collar and it helps me a lot. I wake up much less groggy when I am consistently using it during sleep. I think it helps keep my neck in an optimal position for the best drainage and blood flow. Try sleeping with one for a week and without for a week to see if it makes a difference for you too.
I didn’t get sleepy or headaches from Zyrtec. It helped me a little but I’ve found Atarax (hydroxyzine) works much better for me than Zyrtec. My son hasn’t tried Atarax yet but he prefers Claritin over Zyrtec. I was taking Zyrtec AND Claritin before trying the Atarax. I had a lot of neurological/ear symptoms which have improved greatly on Atarax. Research Dr. Theoharides’ work on mast cells. He recommends hydroxyzine over Zyrtec because it crosses the BBB to stabilize mast cells in the brain. My doctor agreed to let me experiment with dosages of it. I found it made me extremely sleepy and in the beginning I could only take 1/2 a pill at night. I’ve worked up to taking 1 (25mg) pill at night and 1/2 pill in the morning but in the beginning I was only taking small pieces of a pill. Wow! It feels like someone went in and cleaned and organized my brain. My memory, attention, and cognitive functioning is VASTLY improved on the Atarax. It works better for me than either concerta or adderall ever did and I’ve been able to quit taking any ADHD meds. I am stunned at the difference in my cognitive functioning. I also use NasalCrom every morning and evening. It helps me breathe better through my nose so I think it helps me get more oxygen when I’m sleeping. It has cut down on the number of sinus infections/ pnuemonias I was getting. If I feel like my nose is running or stuffy like I might be getting sick, I up my dosing to 4 times a day and it really seems to help keep me dried out so infections don’t have that warm mucus environment which helps them breed. So those are my top two drugs… Atarax and NasalCrom. Others swear by Gastrocrom, beta blockers, midodrine…. gosh, we are all so different! I’m glad it sounds like your GP is listening. Keep trying things (with your docs permission of course) until you find what works best for you!
My best, SweetFeather
The things I tried which seemed to help my boys’ leg cramps:
Almonds, Natural Calm (magnesium)
Carlson’s lemon flavor cod liver oil (This helped my son who was allergic to dairy and soy who drank rice milk. I think he was low in Vit D. It also dramatically improved his acne.)
Are you allergic to molds? My daughter is allergic to sesame, feathers, grasses, and molds. Our allergist said he finds many with mold allergies often have more severe asthma and can be difficult to treat. She was allergic to beef when she was younger. She hasn’t had hives lately so I’m hoping she hasn’t developed any new food allergies. Thanks so much for your input! I’ll let you know what we find out. 🙂
It must be from my Mom… I remember she told me she had so little hair as a kid her Mom shaved her head! I’m not sure that was necessary because most of my kids were baldies but ended up with really thick hair. The one who had the thickest as a baby has the thinnest now. Go figure! 😉