I have a genetic condition called neurofibromatosis type 1 or NF1 for short.
It is a progressive disorder belonging to the tumour inducing syndromes and I have done years and years of extensive research on it and other genetic disorders. I will try to answer your questions in order.
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Why does she need it
Some genes have just a function and any genetic damage after birth will have no impact on your health. An example is the gene SOX2 that produces the protein necessary to the development for the eye. If at en embryonic stage, there is a mutation on SOX2, the foetus will not develop normally and the baby will be born without one or the 2 eyes.
After the birth and for all your life, if the gene SOX2 is mutated at any point, this will not affect you. Its role and function is done and dusted. You need to consider than we have more than 800 mutations happening per hour, so 10.000 a day, if you prefer, every time a cell divides, reproduces, during the normal cell cycle.
Other genes, like NF1 for example , have a life-long role. Nf1 belong to a family 65 tumour suppressor genes and their role is to prevent tumours and cancer happening in specific parts of the body. In my case it is on nerves, in a case you might be more familiar with , the BRCA1 (Angelina Jolie gene as it is called) , to prevent breast cancer and so on.
Some of the genetic disorder are progressive and that means that there are stages with manifestations that will occur. Now we know enough about epigenetics - what turns a gene on and off - to know that there is a bit of room for intervention, so knowing you have a certain condition might mean you will have more test (MRI for example) or more often or from an earlier age.
My condition comes with a 60% lifetime risk of cancer so I also follow a cancer prevention diet.
Some genetic mutations are dominant, which means your DD will have a 50% to pass the gene, so knowing it, she will have the choice to do pre-implantation gene diagnosis and sleet only the embryos will a healthy gene.
- The doctor who referred us said HE wanted her to see them, instead of asking if that's something we wanted. Does that mean it's for their research?
Despite what you might think, there is still a lot we don't know about genes. Up until the ability to do genetic testing not so long ago, people would be diagnosed based on clinical signs in other words, how you look and what problems you have. People would be diagnosed of NF1 based on skin manifestations (cafe au lait macules) for example, but when they started doing genetic testing, a lot didn't have a defect on the NF1 gene but on the SPRED1 gene or the PTPN11 and this meant, they had other conditions.
Because a genetic condition has most of the time a variability in the number and severity of manifestations, having the genetic test done will confirm which condition she has and in some case, give an idea on how it will evolve.
Your doctor might need to see her result to know how better to care for her.
- Is there a chance it will show up something horrible (future cancers) or do they just look at what they're looking at?
If you DD has a tumour inducing syndrome you will be given some statistics but these are just numbers and are just mysterious because there is still an awful lot we don't know. Take the BRCA1 for example. It protects you against breast cancer. If you have a defect on it, you have 85% chances to develop breast cancer. What is not understood if why 15 women out of 100 will NOT develop breast cancer and this is where epigenetics plays a role. The gene is the gun, but there are other players that will pull the trigger.
In my case, I am trying to act on my epigenome and prevent further mutations or enhance my immune system .
- Will the first appointment be a blood test and then we go back a second time for results? How long does that take?
It really depends on the gene. When I was first diagnosed years ago, there was only one Lab in the world that did the test and it was in Alabama , USA. the test took a bit less than 3 month because I joined a queue. Now, you can get results back in a matter of weeks form labs everywhere. Genetic testing and understanding is changing. But yes, you will have to go back for the results and you will be given more information and probably a care plan.
I hope this makes sense, I have tried to simplify it as much as possible.
The thing to remember, is that depending on which mutation she has, there is room for intervention, and that the epigenetic has a major role.
Happy to answer any further question.