The Latest

On Thursday Wes had his appointment with the geneticists. They clarified that he has a small deletion in his 9th chromosome. The location of the deletion causes a disorder called NKH but it is auto recessive so Wes would have to have 2 bad copies of the genes to be symptomatic (rather than just a carrier).  They know he has one bad copy but have to do more testing to see if he has a second bad copy.  They are pretty confident that he is just a carrier because the symptoms don't really match his history.  Although from what I've read the symptoms sometimes don't start until late infancy or early childhood. But unless we hear otherwise, I have to believe that they are right because NKH is a bad diagnosis with little to no treatments available.    They also discussed during Wesley's appointment that Colby or I could have a chromosomal mismatch which could have caused Wesley's genetic abnormality and his difficulties at birth along with my previous miscarriage.  They are checking with the genetics lab to see if they will do parental testing for free so we don't have to go through trying to convince insurance that we need these tests even though Colby and I are healthy.  This also is a bad diagnosis though because there is absolutely no way to treat it and have future successful pregnancies.  So now we wait to get blood tests done and then we wait to get results on those blood tests (and genetic tests always take a long time).  I know I didn't pray for patience but it sure seems like God has decided I need to learn it anyways...


On Friday I had an appointment with a Hematologist to discuss my MTHFR gene mutation.  First of all I hate going to hematologist offices!  We (mistakenly) went to the hematology department at Children's Hospital the first time we were taking Wes to the stroke clinic.  It seems that every hematologist is also an oncologist and therefore sees a lot of patients who are on chemotherapy.  Sitting in the waiting room with all the people waiting to go get their chemo treatments is just heartbreaking (especially the little kids at Children's).  Anyways, the hematologist said that my MTHFR mutation with my normal homocystine levels is insignificant.  Although I have one of the more rare types of the mutation, apparently it is still relatively common.  Since my homocystine levels are normal, the mutation has not caused me to have a clotting disorder (yay).  However, given Wesley's birth history, the doctor did order two more blood tests to make sure we haven't missed something we can test for (although he seemed doubtful they would show anything).  I also got a speech that I've heard before from several other doctors in the last 6 months about how we really don't know everything about how our bodies work and we don't have tests for a lot of things because we haven't identified them yet.  Essentially he is saying that something could be wrong still even though all the tests have come back normal (sometimes I forget how little we really do know about this world).  So he doesn't have any light to shed on Wesley's situation, but he said in future pregnancies they could put me on a preventative dose of blood thinners (anticoagulants) just in case I have some clotting disorder that they don't know about but that would involve giving myself painful daily injections.


Overall, both appointments I was worried about this week went better than I feared they might but I wouldn't say they went great either.  So... on to Wesley's neurology/hematology appointment on Tuesday. 








Wesley also got the okay from his pediatrician to start on oatmeal this week.  He is doing really well with it so far.  He definitely spits a fair amount of it out as he's learning what to do with his tongue, but he has had several successful feedings so far!