Sunday, February 07, 2016

Closer to answers?

It's been a long time since our family visited NIH for the Undiagnosed Disease Program (2012) - 4 years! We recently received results both from the NIH and from a re-testing done by our home genetics drs (this clinical whole exome test wasn't available at the time we signed up for NIH).

I will warn you the results of this testing were hard to swallow because I am a carrier of some very bad things. But apparently everyone carries at least 7 or 8 diseases, some would just never know which ones unless you had such extensive whole exome testing or had an obvious family history (I come up negative for every disease mutation tested on extensive PANORAMA preconception genetic panels, FYI, so there's no way I could have known any of it existed in advance).


  • STRA6. Mutations in this gene are known to cause a severe syndrome involving anopthalmia (meaning affected babies do not develop eyes). Because it is a recessive disease and Mason only has one mutated STRA6, not two, they aren't sure how much it's affecting him. Because he has such severe eye defects, plus many other mutations in concerning genes (see below), plus the deletion we already knew about, these other changes may be making STRA6 affect him more severely than it would affect other carriers...aka, me :/ Mason inherited this mutation from me, on chromosome 15.
  • GLE1. Mutations in this gene are known to cause a severe disease in babies called Lethal Congenital Contracture Syndrome. But since it is a recessive disease and Mason only has one mutated GLE1, not two, they aren't sure how much it's affecting him. Mason didn't inherit the GLE1 mutation; it was de novo (a new mutation not affecting anyone else in the family).
  • MON2. No one knows anything about this gene, but Mason has two mutated copies of MON2 (one from me, one from Brian). It has never been associated with human disease and there's not much mice research to go on, so they aren't sure what effect it's having on Mason, if any. The fact that he has 2 mutated copies makes it something to consider. (Micah inherited neither of these mutations).
  • COL4A6. Mutations on this gene are known to cause familial deafness. They said it may play a role in Mason's hearing impairment. It is X-linked, inherited from me (sigh). Micah didn't get this mutation, just Mason. In X-linked conditions, males are affected more severely than females (because girls have 2 X chromsomes, the healthy X can sometimes compensate for any mutations on the other one; guys only have 1 X and 1 Y so cannot compensate as easily).
  • WDR37. This mutation is the one everyone is focusing the most attention on right now. Mason only has one WDR37 mutation, not two, but in mice, mutations in this gene have caused problems similar to Mason's. Not only that, but since the NIH results were reported, the clinical lab reports two other children have been located with single mutations on one copy of this gene and they have similar categories of features. Our doctors are in process of contacting them; if they can confirm the kids are very much alike, it is possible Mason is one of three with a new syndrome. If they aren't as alike as they sound in the report, it's more likely that "Mason syndrome" is simply due to a totally unique combination of all these mutations plus the deletion. No one else in the family is affected by this mutation. It is de novo (new/not inherited).

As if it wasn't crazy enough that Mason has all these "never before seen" mutations and the three of us share a "never before seen" deletion, it gets crazier.

Micah also has his own "never before seen," probably disease-causing, mutation, which Mason doesn't have.  We hope to be able to share more info on this mutation soon.

 All this to say... more waiting but we may be closer than ever before to knowing whatever is knowable from a genetics standpoint, and maybe once we know more details, there eventually may be ways to help alleviate some of their symptoms. Overall, it confirms what we already is good and God is great and our futures are in His hands no matter what the results say :)

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