Unless your living under a rock, you should have heard by now of the genetic testing kit you can order online and have delivered to your home. 23andMe is a privately held personal genomics and biotechnology company based in Mountain View, California. It is a saliva test that you can do at home. You spit into the vials they send you and then you mail it back to their lab to be tested. It tests your ancestry and Genetics. It gives you your risk assessment and carrier status. The Genetic health reports can predict how likely you are to develop something like cancer, Parkinson’s, Celiac, Alzheimer’s .
It gives you wellness reports. Some examples on the website are : alcohol flush reaction, caffeine consumption, deep sleep and genetic weight. With various others.
It has trait reports such as ; bitter taste, cheek dimples, early hair loss, cleft chin, and many many others.
The last section is the carrier status . This is the biggie. It has various major diseases listed like Maple Syrup Disease, cystic fibrosis, and there it is 33 from the top.
PHENYLKETONURIA
with the description read as ; 23 variants in the PAH gene; relevant for Irish, Northern European descent
Now, here is where my problem lies.
As many of you know, I have been a vocal advocate for PKU and a avid member of the online community. From writing this blog, to creating and ad-mining many facebook groups, support groups and that I help CanPKU lobby in government and in PKU treatment. I created the very FIRST PKU group on facebook when facebook itself was very new. Today our group 6,000 members. We get requests to join our group daily. Multiple requests. So much so I have a team of volunteers now to help monitor the group and admission requests. we have turned on the feature where every member request has to answer questions about PKU so we dont allow spammers or frauds.
However we have been inundated with request from people who have taken this damn test and now fear they or their child have PKU . and after doing research on the internet they are convinced they must have it .
** Let me be clear, I am more then happy for people who use this test in a responsible way and if they learn that they or someone in their family is a carrier. That useful knowledge to have. I am all for supporting Carriers and their family, as each carrier is more potential for another child born with PKU , and a reason for the parent to insure screening and results are given in a timely manor. Since newborn screening is optional in many countries, if someone knew they are a carrier , they will make sure to opt into newborn screening.
What bothers me, is people who dont understand this test. Who do not follow up with a medical team to have the results interpreted. The people who think ” oh maybe this is why i have headaches when i eat meat ” or ” oh i have bad BO and an upset stomach when i drink milk, so i must have PKU”
This post is not directed at people who discover they are a carrier of PKU and are seeking actual information, support and education. This post is directed to the perfectly healthy people that have been normal their whole lives who take this test and fear they have PKU. That even when they have come to our group, and asked questions, messaged an admin for clarification . That when we have provided information , explained the difference between carrier vs patient of PKU and what the statistics are they still argue us. When we clearly explain you cant be diagnosed through a test like this to actually have PKU. PKU can only be diagnosed with newborn screening and that you may only be a carrier if this test comes back positive.
We try to educate every one we can as we strive by the motto, that ” one more person who understands PKU is one step forward from being rare and unknown”
These are the people that I am talking about. They have let fear guide them and they are convinced they have PKU when they dont. They dont seem to understand that PKU is tested for at birth!!!! That yes, this test can tell you if you are a carrier, which means you could have a chance if your partner is also a carrier of having a child with PKU. It does not mean your child does have PKU and you never knew it. WE have had so many people message us that their child has autism or ADHD so they must have PKU too.
There are many forms of PKU. Though it may be possible to mis-diagnose or delay a diagnosis of hyper PHE or mild PKU , it is very rare. The consequences would not be as severe with these forms of PKU, HOWEVER Classical PKU cannot be diagnosed later in life. Classical PKU is very serious. If not diagnosed at birth ; before the baby is 6 months of age the baby would be completely mentally impaired with irreversible brain damage.
If they are just finding out now that they have PKU or their child had it and was a delayed diagnosis they would have serious impairments. Serious handicaps and serious brain damage.
I have had full out arguments from these people who are clearly adults living totally normal lives other then maybe an upset tummy when they eat to much of a food, or a headache when they eat gluten , or some other stupid reason.
We try to explain to them that for their age, they would not be just facing a diagnosis now, that they are more then likely just a carrier. With no symptoms. That if their was a chance they had Mild PKU or Hyper PHE this test cannot diagnose it. IT can only tell them if they carrier of the gene. Only newborn screening can diagnosis so if they really want to be sure to follow up with a doctor.
We offer them education and information on being a carrier and what the statistics are and how it all ” works” but it has gotten so argumentative and even down right rude sometimes we have had to completely block people.
Now we have updated our group description for new members to see before they even try to request. I have even updated the questions members need to ask before they can be added to the group to ask how they received a diagnosis and explain they cannot be diagnosed with PKU with a 23 and me test or any saliva test.
Yet we still get multiple request a day. It has created much confusion and fear in the public. While I understand that these kinds of tests may be helpful and interesting for the individual, on a larger scale I really feel they need to be monitored by your medical team , or at least you should be required to go over your results with a doctor before you take to the internet or panic. The level of miss information I have seen from this test is scary . Specially when dealing with such serious life altering diseases. it has lead to fear, panic, mis understandings and wrongful information being given. I really feel you should only have medical advice from your doctor. I try my hardest not to give medical advice. I give advice based on my own experience and information and always advice they follow up with a medical professional.
I myself strongly believe in being informed and having all the information and tools available to me, i believe in informed consent and power over my own medical needs. I believe in being educated and understanding. I dont support misinformation or fear mongering.
I get the draw behind these tests. I would want to know my own results. Specially when these tests arent regularly offered to healthy people until there is a reason to think otherwise, or in most places they are simply not covered or cost to much if you dont have insurance like places in the USA. Then the information is seeked out .
I however choose to educate myself , be informed and understand that you cant and shouldn’t diagnose yourself based on these results. That if a result concerns you please have it interpreted by a medical doctor. Just because something comes up dosent mean you actually have it. Yes you could be a carrier but please dont panic and start getting on doctor google and joining support groups , or trying to diagnose others. It is insulting to those of us who deal with this daily, or have been diagnosed at birth, had our parents taken through the diagnosis’s having their world rocked, and raising us with treatment , to living this life. We know what PKU is. We know what can happen when your not on diet. We know how it effects our brains. So when you try to join our group because a saliva test told you that you have pku- but your brain is normal and healthy and you have eaten meat and drank regular milk your whole life and you are not in a wheel chair or need someone to help you with regular activities of daily living ( like dressing yourself or feeding yourself ) your going to make a lot of people upset. Then if you go telling people you have PKU and you dont, your going to give the public a false representation of what living with PKU is like. You are going to un do our hard work to be recognized and improve our quality life and get out treatments funded. Your going to teach people who dont know any better that its not that bad, its not that serious, its not that big of deal and that we dont need help.
PKU is already so rare, and considered a orphaned disease. Many in our community have dedicated their lives to improving treatment and quality of life for loved ones with PKU or for themselves. One of our goals is educating the public on what phenylketonuria is really , so that we can gain the support of the public , medical professionals, scientists, researchers, pharmacologists, and others . SO they take notice and get interested enough to make a difference. To develop new foods, new treatments, possibly even one day a cure. This is why we cannot accept anything that can jeopardize this. Such as someone misunderstanding tests like these.
So please, if you or someone you know , has or is going to use this test, Ask them to please seek interpretation from a doctor and education. Or !!! Even better, if you have a result that you are worried about, request further testing from a doctor before you self diagnose or try to treat yourself.
thank you for listening!
I am PKU Strong 