Thursday, February 14, 2013

Try getting a toddler to spit in a test tube....

Ha! It took Maya about 20 minutes to get all the saliva needed for the 23andme test.
Zachary (age 3) well, we are still attempting it!

We are waiting for the infant test kit for Marnie, there are no updates yet as to when they will ever arrive.

I received notification that my sample has reached the lab, sending Maya's today, then Zac's .....that is whenever he has decided that he wants to spit in the tube ;)

I just need to get mum and dad and the sister to partake, this is so interesting!

Off to buy some ingredients for a raw style ganache - and then Valentine crafts.


Tuesday, February 12, 2013

Great link

Found this on my travels 
http://www.mindmeister.com/12694596/mthfr-related-health-problems

It is a mind map of MTHFR related problems by Dr Stephen Smith MD at Agapenutrition.com


Monday, February 11, 2013

So apparently the A1298C mutation is nothing.

We have an appointment for the geneticist..in May. 
In speaking with the genetic counselor, being homozygous A1298C is nada, nothing, zilch.
They do want to check her homocysteine levels, but apart from that, they say just having this mutation means nothing.
We do need to push for more research, as there is scant research on these mutations.
Still not going ahead with another revision, I just cannot do it to her. We are getting her checked for EDS as there are some warning signs in the family history that could point to this being a reason as to why she is such a slow healer. 
Sent off my 23andme test, now have to get the kidlets to spit in their tubes and send those off, that will be interesting! 

Found a great study - Craniofacial expression of human and murineTBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPX patients
http://hmg.oxfordjournals.org/content/11/22/2793.full

This will be my homework tonight, as I have three kidlets running around and thinking is nigh to impossible right now.

Thursday, January 3, 2013

Slow healer

Miss M is a slow healer, my new research topic is going through why that could be.
Hopefully getting the testing done will give us some answers. We will not have an appointment for the geneticist until March/April, a long time to wait.
We found out she is a slow healer after her last PTT revision. 9 weeks after the procedure, her provider was able to open the site up. 9 weeks is a long time. It should have healed by then.

Tuesday, January 1, 2013

Waiting on answers

So, waiting for a miracle. Hoping that someone, somewhere will know how to fix my daughter. She is only 13 months, and we have never nursed properly. She has had 2 lip tie revisions and 4 posterior tie revisions. Still, they grew back. She is homozygous A1298C, has low IgA, a very bad gut and candida. We will be doing further testing with 23andme to see if there are any other mutations. Found a great Doctor though and will consult with him. The major question to be asked is whether to gut cleanse, then treat for the mutations, then revise again. I know what the long term problems from being tied are, this is just so much more than breast-feeding.
Her jaw was so good after lots of chiro appointments, but then after 2 weeks, back to being tight again.
So, we are here, hoping that MTHFR is the answer.

All I ever wanted was to have one good nursing relationship.