Genetic counselling

I heard back from the Genetic Counsellor at Moorfields today, the update is that if we were to get genetic testing done privately we would need to go and see one of Prof Cone's colleagues privately and then also pay for the testing. It's kind of what I expected. We had discussed it and decided that we were happy to wait for a suitable time to test her through the NHS, not because we don't want to spend the money but because we don't feel that this is so urgent that we need answers.

Some things to consider:
1. If we decide we want another baby, we probably want the testing because it might not be Achromatopsia. Having another baby is not high on my priority list but you never know how my feelings might change in a few years time. Charlotte is so wonderful that I would have 100 of her and I don't really care about the 1 in 4 odds. But if it was Leber's, or if Charlotte really starts to struggle, I might care more.
2. I will go to the GP Practice Nurse to have Charlotte's Swine Flu vaccine done. Then I will ask her at what age she is comfortable drawing a blood sample for the genetic testing (they only need 4ml). Then I can arrange with Sophie for the equipment to be sent out and the sample analysed. I'm thinking this process could take 2 years, one for Charlotte to be old enough (about 2yrs old?) and another year for the sample to be tested and the results to arrive.
3. If a treatment is developed, testing will become a priority if Charlotte is to participate. Patients would need to be tested before any gene therapy and I'm imagining that the NHS would therefore have everything set up for us to be tested quite quickly.

Then I asked Sophie what her opinion was about Charlotte's ability to benefit from any future treatment, given the time it might take for something to be developed. She was very optimistic and said that once something gets good results in animal trials, it can progress quite quickly through human trials. I said that I imagined Charlotte might be the last of the Achromats and she said no, that would certainly be true for the 10 year old patients that they have but not for babies.

Fingers crossed/hope and pray for fast, accurate, successful trials...