Rica Lode’s Personal Experience with PGD (Part 7)

This is a Genetics and Health exclusive multi-part series featuring Rica Lode’s search for preimplantation genetic diagnosis for neurofibromatosis 1 (NF1). To start at the beginning of Rica’s story in her own words, here are part 1, part 2, part 3, part 4, Part 5, and Part 6.

Let’s catch up on what Rica has gone through since the last time we heard from her.

~~~~~
“Thanks for enquiry. We regret to inform you we do not provide the services that you requested.”

“The hospital does not do genetic screening for NF at this time.”

One by one, their names are scratched off from the list. What am I currently looking for? Two things actually – whether their centre offers genetic testing for NF and/ whether they offer PGD for NF.

My research has turn up one source who offers a comprehensive testing for NF1– University of Alabama. However, their representative pointed out to me that we cannot make an individual request on our own. They required a physician to do so. It appears to be an international standard procedure as even the Malaysian pathology centres requires this condition too.

The attached forms sent to my email have revealed my husband’s medical examinations to be incomplete. The doctors have not examined whether he has scoliosis and of other possible conditions relating to NF. Some of the descriptions in the form we have not heard before, i.e., Watson syndrome. I distinctly remember the word “Watson”. Ok, I have heard of Watson Pharmacy. We have multiple chains of that in Malaysia. But Watson Syndrome? A classic case of shopping too much at Watson? That would have to be me, not my husband then.

My worldwide search on fertility centres/hospitals has brought forth results as follows:

• Malaysia – I had referred to Damansara Fertility Centre who informed me that PGD is available but they are currently in the midst of developing PCR technology, which can screen genetic disorder such as NF.
• Singapore – PGD is not available to the public. On the other hand, according to one professor, it can be done upon approval of Ministry of Health. I will get back to him once the mutation report is finalised.
• Thailand – Jetanin Institute for Assisted Reproduction and Ramkhamhaeng Hospital have PGD for both gender selection and genetic disorder. However, they informed me that their PGD could not screen NF1. This means, their technology is of FISH, not PCR. Bumrungrad International does not offer PGD at this time.
• Japan – Tokyo Hart Clinic has confirmed with me that they do not offer PGD, while the rest did not get back to me yet.
• Canada – IVF Canada has confirmed that they offer PGD and returned me with some forms, pricing quotes and some information. Victoria Fertility Centre do not offer PGD at their clinic.
• Australia – Monash IVF & Sydney IVF confirmed that they provide PGD for genetic disorder. Sydney IVF has mentioned that they have NF patients who undergone PGD before at their clinics. Melbourne IVF did not response to my query yet. Currently checking into University of Sydney Hospital, with the help of my friend in Australia.
• UK – The London Bridge Fertility, Gynaecology & Genetics Centre has confirmed with me that they do offer PGD but they require a mutation report before can proceed further. I’m waiting for Guy’s and St Thomas’ NHS Foundation Trust’s response.
• USA – I have done research on North Shore Fertility and Reproductive Genetic Institute, based on recommendations. There are in fact more clinics/centres in US that offers PGD. These two are renown in PGD field. Another one is Sher Institute for Reproductive Medicine (SIRM) who has confirmed with me that they do offer PGD and suggested me to look for one of their specific offices in order to discuss on my queries.
• Hong Kong – Queen Mary Hospital has replied me with “This disease may lead to very variable presentations in the adult and it is difficult to find good reasons for justifying PGD in this case.” This option is hereby closed here.
• New Zealand, Belgium and Taiwan – no response yet.

I now realise it will take us a lot longer than we imagine due to this genetic report. But it has to be done in order for the PGD to be effective. Although the initial delay to seek IVF-PGD is due to non availability of the genetic report, there may be further delays if my research turns out that financial-wise we may be unable to seek for this program overseas, taking into consideration of accommodation, air flights fees, living expenses (possibility of staying in the country between the range of 2-3 weeks), drugs costs, pre-treatment tests and so on. Before pondering too much on this, we need to get the mutation report sorted out first. The cost analysis aspect will have to be examined thoroughly later.

Rica has certainly done her research and is exploring all their options. Learn more in Part 8, the final part of the series.

Technorati Tags: neurofibromatosis 1, nf1, preimplantation genetic diagnosis, pgd, genetics, genes, dna, reproductive technology, ivf, disease, illness, health