More of Puil's presentation

The long voyage

1) And they visited the wise man of their kingdom, who knows everything about curses, but he could not help them. They met the greatest healer who said he can delay the spell but can not free their children from it. But they did not loose hope. The Princess and the Prince were invited to a far-away Kingdom. “While we are there” they thought “we might even accomplish our mission.” And that’s what they tried to do. In their search they travelled from one city to another, they have met wizards, witches and hermits.

2) A year passed when they arrived to a tent of a fortune-teller. She looked at the Prince’s hand, she examined it so closely her nose almost touched it. There was a long, very long silent interval. “I see” she cried in trance “I see that you are under a terrible spell. And so are your yet unborn children. But I see ways to avoid it. Listen now carefully, and I shall tell you about them all. You might not like one or another. What is right for someone might be the worst for somebody else. You must find your very own way.”

3) The genetic team at City Hospital provided an in depth explanation of the genetic side of our condition. When we asked about family planning, we were informed of the following options.

Remain childless / Adopt a child / Conceive naturally and test children at the age of 12 / Conceive naturally and test for FAP during the pregnancy and optionally terminate it / IVF-PGD treatment / Sperm or egg donation

We feel so glad that we had the opportunity to make our own decision. Every couple is different so is their preference. Rianon and I have chosen the IVF-PGD treatment, Valerie and her husband to conceive naturally. My mother said that they would have probably remained childless if they knew about my father’s condition. It is a difficult personal decision of the couple and nobody should judge that.

We were told that the exact mutation of APC gene (Adenomatous Polyposis Coli gene, the gene responsible for Puil's genetic mutation) must be located before we can be referred to a London clinic for the IVF-PGD treatment. We had to wait 6 months for the result and we felt we were running out of time. My sister Valerie just announced her pregnancy and while I was happy for her I have to admit I was jealous. We were ready for having children for years and we were nowhere near.

4) “Look, there is the cottage the fortune-teller sent us to.”

“Come in, come in” said an old rusty voice from the cottage. “Would you like a cup of tea?”

“Oh no, it is very kind of you, we would like just...”

“I know very well what you want. And I know exactly what to do”

“Then tell us please we have no time to loose”

“No, no, no. You must not hurry. Just sit down, have a nice cup of tea and listen to me”

And she said exactly the same, what the fortune-teller already explained.

“It would take long, it would be expensive, it would not be easy at all, and at the end you might even fail. Are you sure you would like to do that?”

“Oh yes, we...”

“Do not answer yet. Have a good rest, and tell me tomorrow morning.”

So even if we agreed on our way to London before the appointment, that we won’t waste any more time, we had to make the journey again in a month time to say yes we are sure, this is what we want to do.

5) So a quick recap of IVF-PGD. Multiple eggs are produced, fertilized. The grown embryos are tested for genetic mutation.

 

The genetic testing is the key factor of the treatment, it must be 100% accurate. Therefore a lot of preparation is needed. The geneticist has to be able to carry out the test in a short time and also make sure that the genetic material they are examining comes from the mother and the father and be able to decide whether the embryo carries the mutation or not. The length of the preparation phase can not be predicted as it is not an automated process, it involves creative research depending on the individual couple's genetic make up.

 

6) “Very good, very good my dear” said the old lady next morning “I see that you are ready for this long and difficult journey. You must go and find the Goblin forest. You need to cross those dangerous mountains. The only way is through a tunnel.”

They found the tunnel easily. Inside it was cold and dark. They were walking for 3 days and 3 nights. But they did not reach the other end yet.

“We should be already out”

“We must have taken the wrong way”

“I feel lost; it is so dark I am not even sure whether we are closer at all now than when we entered into the tunnel.”

“Something is definitely wrong, we must go back and ask the old lady for more precise directions”

“Hello, my dear little Prince and Princess” said the old lady “Why are you so upset? Sit down please. Do you want a cup of tea?”

And they explained how lost they felt in the tunnel.

“But I told you, that the tunnel will be blocked while the goblins are preparing for you. You must be patient. It should not take too long now.

They went back into the dark and one day they spotted some light. They climbed out and they exclaimed “Oh but it must be the goblin’s forest!”