Monday, November 16, 2015

Part 3 of 23andme.com & Livewillo.com

Part 3

So I took it the next step and contacted the company that interprets results from 23andme.com with a company called LivewellO.com.  For around twenty dollars they can interpret some results.  My question through email took 3 attempts with no phone number to contact them by.

My question was this:

Hello my name is Amy Chapman with the American
Porphyria foundation.  We have been asked by 23andme to ask some specific questions.  Porphyria is a group of rare metobolic disease.  The only way to get a clear diagnosis is through genetic DNA testing.  Genetic testing is very expensive and takes some time to get results.  Many of the patients have been using your services for a diagnosis and that is impossible to do first how do you explain this in particular to a diagnosis of porphyria which also depending on deficient enzyme are 8 different types.  

Since porphyria is rare how do you say that you can diagnose these ppl many have been to world porphyria experts spent 30 plus yrs in porphyria relations in genetics many have been tested and do not meet the criteria set by FDA standards and then they come to you and say they have it only to believe they do and the medications used and cost can be considered close to high drug costs 30 k or more for a daily dose but they have been told they do not have the disease by genetic experts.  So please explain what you do how you do and can you actually diagnosis such a rare disease called porphyria?? Please respond urgently
Sincerely,
Amy Chapman


 Hello Amy,

Thank you for contacting us. We received all 3 of your emails: 
Livewello does not diagnose any health condition whatsoever, and certainly not Porphyria.
Please visit our user-community contributed Gene Library to learn how it works-- Be sure to read the Disclaimers. 
Finally, we only provide Customer Support via the "Help" button at https://livewello.com/support
Thank you

So 23andme.com & Livewello again for emphasis DOES NOT DIAGNOSE ANY OF THE PORPHYRIA DISEASE.  

This is very important we ask that you read the information on Expert Porphyria testing below:

We are always most happy to help find you an expert or knowledable Dr to test, diagnose and treat for your specific type of Porphyria.  Please contact us at 1-866-APF-3635


Diagnostic Testing for the Acute Porphyrias - Clarification of Testing Results

It has come to our attention that some patients who have been diagnosed clinically as having Acute Intermittent Porphyria (AIP) or another acute hepatic porphyria could not be confirmed by either biochemical or DNA testing. Biochemical testing is the demonstration of increased urinary ALA and PBG, and these values are highest during an acute attack when patients are symptomatic. Some patients can have high levels in between attacks as well, but not all. Positive diagnostic values should be increased greater than 5 times normal, not just a slight increase (less than 3 times normal) which can occur with dehydration. Most commercial laboratories and in particular the Porphyria Lab at the University of Texas Medical in Galveston which is run by Dr. Karl Anderson, will perform these tests properly. It is important that the doctor order urinary ALA and PBG and not a "porphyrin profile."​
DNA, or molecular genetic testing, for the acute porphyrias is performed by sequencing the causative gene for the three major acute porphyrias and finding a specific pathogenic lesion on the gene, called a mutation. The technique used for DNA testing is at least 98% accurate, and patients with significantly elevated PBG are most often found to have a specific mutation.  In our experience of testing over 1000 patients with or without elevated urinary PBG, only a few cases did not have a specific mutation.   For these patients, we undertake special testing to look for gene deletions or other aberrations that would be responsible for a cryptic mutation.
During the last few years, our experience with DNA testing for the acute hepatic porphyrias has revealed certain mutations which are not pathogenic but are relatively frequent in normal individuals who do not have any acute hepatic porphyric symptoms. These are called polymorphisms and they are benign. When we recognize patients who have such polymorphisms, we continue to look further at their DNA to see if we can find a pathogenic mutation in addition. If no pathogenic mutation is found, we would have to classified or reclassify these patients as not affected. As you may be aware this has created great concern for patients who respond well to acute porphyria treatment that their treatment would be discontinued. We appreciate this concern and would like to have such patients’ physicians contact us so that we can discuss their situation, recommend additional testing to determine if their symptoms may have been misdiagnosed and institute appropriate treatment. 

Diagnosing Acute Porphyria
The acute porphyrias include Acute Intermittent Porphyria (AIP), Hereditary Coproporphyria (HCP), Variegate Porphyria (VP), and d-Aminolevulinic Acid Dehydratase Porphyria (ADP).
AIP is the most common of the acute porphyrias.
The most common symptoms are acute attacks of severe abdominal pain, back pain, pain in the arms and legs, nausea, vomiting, rapid heartbeat and other symptoms. These attacks generally last for several days, and can be sporadic or happen frequently (~once/month). These acute attacks are very rare in children before puberty.   These acute attacks are very rare in children before puberty. Attacks are often provoked by certain drugs, alcohol, hormones, infections, and perhaps stress. HCP and especially VP may cause blistering skin photosensitivity as well as acute attacks; AIP has no skin involvement, it is characterized just by these acute attacks.  
A diagnosis of one of the acute porphyrias is made in two ways:
  1. By biochemical testing:
    1. For AIP- a urine porphobilinogen (PBG) test during an acute attack—the urine PBG level will be very high if the symptoms are caused by an acute porphyria (greater than 5 times the normal value)
    2. For HCP and VP- a urine porphobilinogen (PBG) test during an acute attack if the patient has acute symptoms, or plasma porphyrins if the patient has skin symptoms
  2. By genetic testing looking at the genes known to cause the acute porphyrias
There are many misconceptions about the urine PBG testing, its reliability, and urine color of patients with acute porphyria. The urine sample for PBG testing needs to be protected from light; the sample should be wrapped in tin foil or placed in a brown opaque bag after collection. However, if the sample is exposed to light for a little while (a few minutes) this will not affect the results. Please follow the directions provided by the laboratory when doing this testing.
Urine PBG testing can be sent to many labs including Quest, LabCorp, Mayo, ARUP, UTMB and Mount Sinai; they all do this testing reliably.
Many patients have urine that is red/purple in color when they have an acute attack, but this is not always the case. Patients can still have elevated urine PBG levels even if their urine color is normal. These misconceptions may lead to improper testing, or misdiagnoses. Physicians who suspect a patient has an acute porphyria should call one of the expert Porphyria centers in the US to consult (http://www.rarediseasesnetwork.org/porphyrias/index.htm).

The Difference between Active and Latent Acute Porphyria
It is important to know that ~80% of people who have changes in their porphyria genes (called mutations) never have symptoms of the acute porphyrias. These people are said to have “latent acute porphyria.”
If someone has a mutation in an acute porphyria gene and reports symptoms similar to an acute attack, their urine PBG level should be checked. If the urine PBG level is normal then there is likely another cause to this person’s symptoms. Acute attacks are distinguished from other conditions that cause abdominal pain by very high PBG levels.

Treatment of Acute Porphyria
For patients with confirmed diagnoses, during acute attacks Panhematin® infusions are administered as treatment and the pain is managed with various other medications. For more information on Panhematin® please visit: http://www.aiporphyria.com/healthcare-professionals/treating-AIP/dosing
If someone who does not have a confirmed diagnosis of acute porphyria, documented by very high PBG levels, is having symptoms that seem consistent with an acute porphyria attack Panhematin® is administered at the discretion of the treating physician. Generally all other causes of abdominal pain which are much more common than acute porphyria are ruled-out first. If Panhematin® is administered and subsequently the diagnosis of acute porphyria cannot be confirmed by elevated urine PBG values or DNA testing, then it would be concluded that the “attack” is not caused by an acute porphyria. Even after Panhematin® treatment, or after an acute attack has passed, the urine PBG levels should still be elevated for several days to a week. These levels may not be as high as they were during the acute attack, but will still be elevated.


                          "Remember....Research is the key to your cure!"


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