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.

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

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.

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.

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.

My spidey senses are tingling

For some reason this is very important - not sure on the why yet, but my gut is saying there is a connection somewhere in here to the link with ties, MTHFR and SIDS

http://www.medscape.org/viewarticle/738553_3

Studies - a work in progress

Human genetic selection for the MTHFR 677>T polymorphism: A leap in the dark

http://www.biomedcentral.com/1471-2350/9/104/

Cleft lip with cleft palate, ankyloglossia, and hypodontia are associated with TBX22 mutations.

http://www.ncbi.nlm.nih.gov/pubmed/21248356

Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPX patients

http://www.ncbi.nlm.nih.gov/pubmed/12374769

The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia

http://www.ncbi.nlm.nih.gov/pubmed/11559848

mthfr and ADHD

http://www.medsci.org/v08p0523.htm

http://www.biomedcentral.com/1743-1050/5/5

Nitrous contra-indicated in c-section patient with mthfr

http://www.ncbi.nlm.nih.gov/pubmed/16980165

mthfr and nitrous

http://www.ncbi.nlm.nih.gov/pubmed/18580170

death of a child with an enzyme defect in the MTHFR gene after anaesthesia with nitrous oxide

http://www.nejm.org/doi/pdf/10.1056/nejmoa021867

Reversible nitrous oxide myelopathy and a polymorphism in the gene encoding 5,10-methylenetetrahydrofolate reductase

http://bja.oxfordjournals.org/content/96/2/222.full

MTHFR and cleft palate

http://www.ncbi.nlm.nih.gov/pubmed/22875508

http://www.ncbi.nlm.nih.gov/pubmed/22450905

http://www.ncbi.nlm.nih.gov/pubmed/21774403

http://www.ncbi.nlm.nih.gov/pubmed/20890936

http://www.ncbi.nlm.nih.gov/pubmed/19935819

http://www.ncbi.nlm.nih.gov/pubmed/18797703

Nitrous oxide – laughing gas – is a widely used anaesthetic gas with many favourable but also some dangerous properties. Among the latter is the increase in homocysteine levels after nitrous oxide (N2O) exposure by inhibition of enzymes in the vitamin B12 pathway. Elevated homocysteine levels have been found to be an independent risk factor for ischemic events and are associated with an increased risk for perioperative myocardial ischemia. If a patient carries one or more loss-of-function mutations in enzymes of the methionine/homocysteine/folate pathway he is at an increased risk for hyperhomocysteinemia and if exposed to N2O might suffer severe, sometimes disastrous neurological damage. Recently, a case report in the New England Journal of Medicine reported the death of a child with an enzyme defect in the MTHFR gene after anaesthesia with nitrous oxide (NEJM 2003;349:45-50).