Neurology Appointment for Miss L- 25/6/12

Today we saw the neurologist for Miss L. Dr Williams is fantastic, so friendly an un Doctor like.
My new term :)

He hasn't seen L since the hospital back in March so he saw a different girl. He noted the weight gain, she was 6kg at admission she is now 7.455kg. Her length hasn't changed- still 66cm but he said that will come. Her head circumference has grown by 1cm!!!!! to 45cm. Now at the low end of the average range. :) **Happy dance**

Miss L now- filled out cheeks and lovely colour.

                             Miss L in December- no smiles ever, pale face and no eye contact.

Now to the tricky bit...
Miss L doen't fit any boxes. She doesn't match any diagnosis. She doesn't make sense.
She was diagnosed with B12 deficiency back in February and after 2 shots her levels went back to normal. So she recovered. Yet they can't find a reason for the deficiency in the first place. Babies who are B12 deficient are that way because their Mum are. Usually because they are vegan or non meat eaters. We are born with enough B12 to last us 5 years but if Mum doesn't have enough it won't get passed onto baby. When I was tested at normal that theory went out the window. Usually we get our B12 from our meat diet but as L was breastfed she would have got it through my milk, but for some reason her body didn't have any and she wasn't absorbing any of mine.
As she is now progressing and showing signs of improvemnt since the B12 injections they are back to searching for the reason.
In the past they have tested for metabolic disorders with no positive results. So now we start a new path. The genetics team get involved which mean more blood tests. They take the DNA from the blood cells and test it in 3 different ways- very complex and answers can take months. We are retesting her vitamin and iron levels to make sure they are still within the normal range. We are testing for more metabolic disorders just in case....

As both the Paediatrician and the Neurologist have said we can only keep trying....


Some explanantions to save you Googling:
Vitamin B₁₂, vitamin B12 or vitamin B-12, also called cobalamin, is a water-soluble vitamin with a key role in the normal functioning of the brain and nervous system, and for the formation of blood. It is one of the eight B vitamins. It is normally involved in the metabolism of every cell of the human body, especially affecting DNA synthesis and regulation, but also fatty acid synthesis and energy production. It is the largest and most structurally complicated vitamin and can be produced industrially only through bacterial fermentation-synthesis.

Vitamin B₁₂ deficiency or hypocobalaminemia is a low blood level of vitamin B₁₂. It can cause permanent damage to nervous tissue if left untreated long enough.

http://www.b12deficiency.org/