How we got on

Laurie and I are so pleased with how our appointment with Genetics went and also how Chloe coped with her big day out to Wellington.

The Geneticists first off apologised for the stuff up with the initial appointment that we got told was going to happen and then didn’t.  Getting down to business, we went over everything that happened since they last saw Chloe when she was only a few days old.  Going over about when Chloe was diagnosed with JMML, how often she was having bloods tests and that it was now resolved.  Her slow growth to them was obvious but agreed with us one of the best things that come out of the Genetics appointments is that if there is a problem with slow growth, it should help relieve some of the pressure from the Paediatricians and Dieticians.

They said it was clear to them that Chloe had Noonan Syndrome but would still want to do the genetic blood test.  There is a chance that results come back negative but that will still not change their clinical diagnosis.  We were ok with all that, as that was all research had told us.  They gave us the option of having the blood test then or wait later till her next lot of bloods needed to be done. We went with getting it done there and then.  Considering the results can take anywhere better 3 months to 6 months (sometimes even longer) it was just worthwhile to get it done ASAP, especially since we’ve been wanting to get the test done since she was diagnosed with JMML.

They advised that Chloe’s heart will need to continually be monitored for possible heart issues every couple of years, even after her existing ASD has resolved.  We talked about what Chloe can do so far development wise, which considering her slow growth and JMML is  progressing pretty well.  The Geneticists photographer took up to date photos of Chloe for their records.  Chloe thought this part was fantastic, striking her poses for the camera and trying to grab it.  When we left, both Laurie and I felt happy with how it all went and that it should have the follow on effect to help the Paediatricians understand Chloe a bit more.

Chloe coped amazingly well the whole day.  Did not cry or kick up a fuss at all on the plane there or back.  She was all smiles and chatted happily to all of us during her appointment (which I think charmed the Geneticists).  There was no way that she was going to have a sleep but did give in to a very quick 20 minute power nap in the afternoon.  I think she saved up her moodiness and tears till when we got home and we tried to settle her for the night.  Once she was properly settled she blessed me with only waking the once and gave me a almost 6 hour stint!  Oh yes I was one happy Mumma Bear!

The Paediatric District Nurse is coming to weight Chloe again on Monday, so hopefully Chloe keeps up the good work with her steady gains she has been doing.