Was going to do a 1st Birthday post this weekend but that will have to wait until later this coming week as we have an important update to fill you all in on. On Friday we received a call from the Genetics team down in Wellington with Chloe’s blood results that she had way back in September (compared to other people’s experiences it wasn’t actually to long of a wait).
The genetics test confirms that Chloe does have Noonan Syndrome and mutation is with the PTPN11 gene. From when I first did goggle searches on Noonan’s this is appears to be the most common gene mutation within Noonan Syndrome. So what does this mean now? To be honest it appears not really much, they had already given her the Clinical diagnosis and had her in the hospital system for regular Pediatric appointments, yearly Echo’s, closely monitoring her hearing, regular blood tests and also the support from a Neurodevelopment Therapist . But I suppose it just means now that they now know the exact mutation so it’s taken out some of the guessing games.
It also means that both Laurie and I can now get tested. This will confirm wether or not that with Chloe it was just a random glitch or if one of us also has Noonan’s without even knowing it . . . which can happen. We have decided to go ahead with this and taken up the offer of being tested as this will have a big impact on if we decide to give Chloe a sibling or not.
I haven’t had a chance yet to sit down and have a good proper read about PTPN11 so I can’t really tell you much about it. Now that the Birthday celebrations are finished I will be making sure I’m more educated on the subject.
Tomorrow we have a busy morning at the hospital seeing the Neurodevelopment Therapist and also a Blood Test. Not looking forward to the Blood Test, I think Chloe will need a special Ice Cream treat afterwards. As she gets older these Blood Tests aren’t getting any easier. But I’m really looking forward to see what “Tools” we will get from the Therapist, as the support corner seat helped Chloe so much and quickly last time. She is in need of some help mastering the crawling technique and being able to pull herself up. I keep on getting told from other parents that it will be all over once she starts get more mobile . . . but I really CAN NOT wait. She will get so much more freedom and independence (I hope), I just want her to be happy with being able to explore her world more freely.
Will keep everyone updated with this weeks results and also will do a 1st Birthday post.
