Community Discussion Forum Parent support could genetic test help ? Reply To: could genetic test help ?

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Ok, I recently talked to the nurse, and asked a couple more questions for you medina.

They did the genetic testing on Jacob in Nov I believe. At last check, the results are due back mid-feb.


I am getting more and more confused as I get more information. When I asked recently if it specifically affects how he is treated (the results) they said not really as they are already treating him now, and if its working, they wont typically mess with it. (unless it shows drastic reasons).


It can say if Kuvan may help, as it will narrow down exactly what the mutation is, however, Jacob had another test, which showed he was a 'likely canditate for the meds. The dr said until it is funded in Canada, she wont put any patients on it. Its VERY expensive. I think she was saying something like $30/pill, and adults can take up to 10 pills a day!! So, I am still somewhat confused as to why they do the test for this purpose when he has had another test they used to determine this. 

They described the reason for the test, was it helps narrow down what the mutation is. She explained it as, if they handed me a book and asked for a specific word to be found, it would be very difficult. However, this test, tells me what page to look on, making it easier. This is the same for them, as it tells them where in his DNA the mutation is, so they know easier what they are looking for, and are able to find it. They will know the particulars of Jacob's disease.

However, they also said, after testing him, they will test his biological mom and our Donor. This way, if her sisters, or his kids want the information, they will have it. I do know that it will tell us if he made the mutation, or if it was genetic. And can help in future family planning, for us, my sister-in-laws, as well as donor's female children.

For Jacob thou, I don't see any major benefit.  I may not have chosen to do this test, if I had to pay for it, and it was only for other children if we weren't planning on having any.

Saying that, if it helps one lil bit, I am happy they are doing it, as it is free for us, and only required blood work for jacob.

Hope this helps

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