Hannah's MRI

[Guest guest]

I need help. I am at such a loss and feeling hopeless and devastated. Long story

short, since most of you know Hannah, she is 10 months old with dx infantile

spasms and underlying metabolic/mitochondrial issues. She displayed high lactic

acidosis levels at 13 hours old, lowering her carbohydrate levels helped.

Seizure onset was about 2 weeks of age with clonic seizures followed by

myoclonic and tonic clonics. Now she does a new one that looks like a tonic

clonic but she stretches her head all the way to the right and then violently

shakes her head over to the left while her left arm is clenched and also shaking

violently. (has anyone seen this kind of seizure...does it have a name?) She is

now med free on the ketogenic diet. She has been on the diet since August with a

4:1 ratio (still low cars, only 1.19g/day). We have good ketones and about a 75%

decrease in seizure activity. She has had both a skin biopsy and a muscle

biopsy. Both yielding no answers. Chromosome workup is normal. She is able to

bottle feed but is not yet on solids. Developmentally she is at 0-3 months. She

doesn't hold up her head, but is showing better muscle tone. She tends to be

both hypo and hypertonic. She also has cortical visual impairment. She does

show VERY slow, but steady improvement. She is in every therapy imaginable.

Her last MRI was last week. The results were..... " according to the report,

there has been " marked progression of volume loss " . In other words, Hannah's

brain has been getting smaller in proportion to the surrounding fluid. There is

relatively more volume loss in the cerebellum, which is responsible for balance

and coordination, but there is cerebral volume loss as well. I think we are

seeing progression of her disease. " (yes, I received this in an email this

morning)

Now, my husband and I sit and cry with still no answers. I have kept such a

positive attitude, but I am scared. With no dx we have no prognosis. I do not

know what is to come of our sweat little baby. 10 months ago, I thought we were

so " lucky' catching " it " early. Now I am feeling we are losing hope. She is our

first and I am 2 months pregnant with our second. I know she is in all of your

prayers and for that I am thankfull, but what am looking for are answers or

directions in what research road I should take. Originally, they thought Hannah

had pyruvate dehyrogenaise deficiency. Then they were looking more towards

mitochondrial. I was looking into Rett Syndrome, but Hannah has displayed

problems since 12 hours old. Her delivery was on time and good. Her AGPAR scores

were also fine.

Please help me find answers,