I’m another newbie. I have a nursing background and a very confusing lifetime collection of medical conditions.
My health report from Livewello was jaw droppingly accurate for the issues I have faced and learned to deal with. Unfortunately my comments on many of the issues are just smiled at by the medical profession because no-one has this many issues.
Urban-Rifkin-Davis syndrome has been suggested on Livewell as being something I should consider as a diagnosis for myself. In that regard I have a question than maybe someone can answer.
I have many of the components that make up that syndrome minus the one that seems to be important diagnostically. I don’t have Cutis Laxa. Actually quite the opposite. at 71 I have less wrinkles than my peers and have had my husband mistaken for my father even though there are only 3 years difference in our ages.
I do have a small jaw with underbite, I need to watch the quantity and size of bites when I eat otherwise my mouth s just not large enough to chew well.
I have a mild degree of Atalectasis, and use a CPAP machine because of Hypopnoeas.
I have right sided urinary tract deformities, double kidney pelvis, abnormal shape and insertion of the ureter into my bladder and a narrow urethra that was surgically dealt with because of the continual urinary tract infections. I am not sure that it made any difference really. I still have issues with urinary tract infections and was recently diagnoses with Cystitis Cystica.
I have had a Mekles diverticulum surgically removed and I do have Diverticulosis.
I am now 71 years old, and have been plagued with issues related to all of these for my entire life. Its interesting that there may be an explanation. Does anyone have any experience with this syndrome?
I’m surprised nobody was curious enough about your misplaced organs to run genetic testing on you. You should keep your eyes open for genetic studies that share some symptoms with you. Often, they don’t want us older people because they can’t tell when we acquired mutations.
Other than the tight skin, I don’t have anything in common with you, genetically. Just wanted to tell you how many people went into the health professions seeking answers to their diagnostic mysteries. Good luck.
I don’t have the potential syndrome either but the beginning of your post really rang a bell with me. My Livewello Report was SO accurate! I have lots of medical issues but have always felt a fraud. When recently I found out that I have the gene for multiple chemical sensitivities, I felt relieved to be confirmed that I am not a hypochondriac. Like you I am relieved when there is an explanation.
It is all so complicated though. We need a life time of learning and I am a similar age as you. I hope you are successful in your quest to find out more. Regards
My problem is that these symptoms are really only the tip of the ice berg.It was just that the computer suggested I look at the possibility of this.
I have a bleeding disorder, am unable to maintain a normal Vitamin D level so take what should be a monthly supplement, fortnightly.
Bilateral breast cancer
Multiple chemical and food allergies
Treatment resistant A typical depression
Intolerant of opiods and many antibioltics
Add to the mix Camptodactyly both little fingers, congenital hammer toes. and a dose of Poliomyelitis at 9 years old. I feel like a walking medical encyclopedia.
Often my Vitamin B12 is so high that is off the measure scale here. I always thought I was safe at least from Pernicious Anaemia. Livewello has show a gene variance suggesting that at a cellular level I may not be able to absorb B vitamins. Need to do a little more study on that one I think.
Its all so complicated for my old brain, but I will systematically work through all of eventually.
It’s so nice to have somewhere to be able to research it all myself after a life time of being smiled nicely at and told when I am a patient I need to take my nurse hat off…
Thanks for responding
I’m sure my Epitaph will read, At least she tried.
Thanks for responding
I can help you put some pieces together. Allergies, MCS, high B12 level- they go with an MTHFR dysfunction. You’re right that the B12 isn’t being taken into the cells. That’s why it’s circulating. You need to switch to methylfolate or adenosyl or hydroxyfolate. If you’re over 50, this should be in a shot. You should join an MTHFR group on Facebook. It can also explain depression.
What kind of bleeding disorder? Have you looked at your Vit D related SNPs?
Thank you for your response. My bleeding disorder does not have a formal diagnosis. I bruise easily, often have large bruises and don’t know why they are there. Have required a couple of blood transfusions following surgery. Clotting times are variable from normal to 14 minutes. As I have aged bleeding has become a bigger issue. Required hospitalization for a minor injury in January. Abdominal Haematoma 3 weeks later measured 500cc. Not counting of course the significant bruising which covered my abdomen and spread completely around my back to meet on the other side. There was a little bit of panic at the ER, they thought I had an arterial bleed and were whisking me off to emergency surgery via a CT machine. It was only venous…I escaped the surgery but carried my haematoma cradled in my arm when I walked for quite some time. It was entirely my fault it got so bad. The bleeding was internal, I hate hospitals so didn’t go until a couple of hours after the injury until I saw the size of it. That would be the worst bleed. I carry bandages and wrap anything I scrape or bump immediately to keep myself out of trouble. Problem with the abdomen was I couldn’t find a way to put pressure on it…
I am unable to maintain a normal Vit D level and have taken a prescription dose fortnightly for some years now.
I’ve been looking up my SNP’s today and began to think it was all very complicated so was wondering where I could get some help.
Thanks for the information, I will have a look at your facebook Group.
Yikes, just checked FB. Which Group??