Even more mysteries...

When we went to see Dr. Dobyns in June, Luke was tested for a mutation in his PIK3R2 gene.  This is one of the genes associated with MPPH syndrome.  We were told that the test was going to be fast tracked and we'd have the results in two weeks.  Then we were told six weeks.  Well we received the results this past week.  Oops. 

There was a reason for the delayed results, though.  There is one lab that Dr. Dobyns' office uses to test for this mutation.  (I am going to try to tell this without telling the WHOLE story....)  They were using one sample from each patient to test for the mutation.  In Luke's case, they tested his saliva.  The doctors who are studying MPPH syndrome believed it to be 'germline' meaning it was a mutation that would be in all of Luke's cells if he had it.  Through a series of events involving another friend whose son is also diagnosed with MPPH it has blown up into a major medical discovery.  The doctors have discovered that there are some kids with MPPH who have what is called a mosaicism.  This means that while Luke does indeed have the mutation, it's not present in all the cells in his body....just some.  At this point of testing, 40% of his saliva is affected and 9% of his blood is affected. 

The doctors are in the process of retesting all of the people  they previously had identified with MPPH using more than one sample.  They already had Luke's blood for research purposes which is why we know that Luke has the mosaicism.  At this moment in time out of all the samples they have retested, Luke and two other children have this mosaicism.  So that means that Luke is one of three people - IN THE WORLD - identified with this particular kind of MPPH.  AND we know one of the other children!  There's a sweet guy in DC who is just a little younger than Luke and a child (16 or 17 years old) in Japan.  Unfortunately they don't have a lot of information about the Japanese child.  I

We are sending in a skin sample, more saliva and possibly hair samples for Luke.  The researchers are going to retest everyone they've already tested with as many point of data as they can.  What they will do is take the percentages from his samples (skin, blood, saliva, maybe hair) and then tell us approximately what percentage of his cells are affected. 

This is all very fascinating to me.  I'm interested in finding out if they identify more children with the MPPH mosaicism and also if they'll find some older children.  I also think that Luke could be one that kind of paves the road for others....as we contribute to research and keep the doctors updated on his progress he will be one that doctors will be able to use as an example for new parents in what MPPH might look like for their child. 

Incidentally, this past week was Rare Disease Day...while Luke doesn't have a disease his MPPH and Polylmicrogyria are considered quite rare. 

 

Luke's IEP is scheduled for this Thursday.  I am just about as nervous as the day we had him!!  I'm eager for it to be over so we know what the next step is.  AND it's 13 days until this big guy turns THREE!  He can also tell you his birth day and that he's going to be turning three!!  He's pretty excited!