The Netherlands lab–to send or not to send?

I’m currently debating whether or not David and I should send some blood to the Netherlands to do some of their DNA tests…


Begin forwarded message:

From: Teddy
Date: February 21, 2012 4:10:26 PM PST
To: RG
Subject: Re: Blood is in the mail ๐Ÿ™‚

The Netherlands are offering mini DNA tests, I’m assuming probably the more common genetic disorders. Most people have felt what is wrong with Noah’s and I might be a ‘new’ disease (though it’s probably not new, it’s just hasn’t been documented yet), so I’m not sure how helpful these tests could be.

Could I send you the list of tests offered, and could you ask AT which ones might be the best ones worth trying? Since there’s going to be a delay before you can start jumping in, maybe it can help if we do a couple of the Netherlands tests while we wait?

I doubt they’ll be able to figure out anything at their lab, but if it’ll help you by taking a few things off the table, then it’s worth sending them some blood–

Thanks again very much. I’m hoping we can solve this–


On Feb 21, 2012, at 2:32 PM, RG wrote:

Hi Teddy,

We are going to look at all the mutations you and David share and try to identify any that may be involved in the immune response pathway as a first pass. I will talk to AT this week or weekend to determine likely candidates to start with.

At the moment, I’m not sure how fast it will take to prepare the DNA for sequencing. Depending on the backlog, it may take anywhere from 2 weeks to a month or two. There are several steps before I get the data that need to be performed that are out of my control.

Do you know what tests would be done in the Netherlands? They may overlap with what we are doing.


On Tue, Feb 21, 2012 at 4:14 PM, Teddy wrote:

Thank you very much–I’m very excited. Even if you don’t find anything, every negative will help us, because we can use that information to eliminate future tests–

Please let me know which tests you do run, and whatever findings you have. I’m also looking at some tests that might be able to be done in the Netherlands, so I’d like to use what you find as a guide–

(Or even better, with any luck, you’ll find the mutation itself ๐Ÿ™‚

Are you checking the Wiskott-Aldrich mutation? We don’t have that, but we had a strange result to that blood test…I’ve always wondered if we have some kind of related syndrome…that’s dominant in expression (clearly ๐Ÿ™‚ The cyclical neutropenia I’ve been diagnosed with…maybe that’s a clue?

It’s very exciting–I have a lot of doctors who will be very curious (since I’ve mystified them for so long), when we finally do get the answer ๐Ÿ™‚

Thanks again for everything ๐Ÿ™‚


On Feb 21, 2012, at 12:34 PM, RG wrote:

Hi Teddy

Thanks for the update. I’ll keep you posted on how things progress over here. Please let me know if you have any questions at any time.


On Tue, Feb 21, 2012 at 3:24 PM, Teddy wrote:


I just wanted to give you the head’s up that one tube of mine, David’s and his father, Luke’s blood was dropped off at 9am at UPS to be shipped to RS–yea! ๐Ÿ™‚

It was drawn at 8am–I hope that wasn’t too early–

Thanks again for everything…whenever you need more blood, please let me know.


About hopeforanswers

Some kind of rare immune deficiency, yet to be determined. A lifetime of infections without an elevated white cell blood or fever. Very grateful to be alive, very thankful for the friends whoโ€™ve supported me and for access to literally millions of dollars worth of medical care. Iโ€™m not the bubble child, Iโ€™m somewhere in between.
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