A GREAT DAY TODAY!!!! SUCH A GREAT DAY!!!!!

I just don't know WHERE to begin!!!

She is understanding more and more everyday!!!!! I am sooooooooooooooooooo happy for her..... all this happiness is making my chest hurt!!!!

When I asked Aliyah to give me a kiss she puckered up :)...
She tries to handle door knobs!!!!! I am pretty sure she is understanding the reason behind them!!! :)

I am almost certain she knows her name!!! FINALLY!!! and when I ask her to follow me , most of the time she does!!!!

She always wants to be right next to me..... literally RIGHT NEXT TO ME!!! I LOVE IT!!!! ABSOLUTELY LOVE IT!!!! I love being her best friend!!!! I love her unconditional love!!!

I don't know why I am crying but I have soooo much joy right now..... I was told by her specialist she may never be able to communicate with me and today she has more than ever!!!!!!!!!!! she is proving everyone wrong!!! little by little... I will be patient... I will wait patiently for the day she calls me mommy :) Everyday I wait for that one word!!!!!

I just have to be patient.... I know she will be alright.... I know I will make a safe and beautiful future for her!!! I just do....

(Words I am almost sure she understands!!!)
Sit
outside
up
thirsty/ drink

No/stop
(Maybe knows)
shoes
diaper

food

(Currently working on)

clap

hi/ bye (we are working on her waving)

I know many of you lovely parents are asking about Aliyah's speech, occupational, and physical therapy updates.... I will try my best to get these posted soon....

Please have faith on your bundle of joy!!!! and continue to be a strong advocate for them!!! together I know we can cope and try to be the best parents for our children .....

Exploring a Treatment for Epilepsy | Video - ABC News

Exploring a Treatment for Epilepsy | Video - ABC News

Sept.7.2011 Email from Dr.Joshi over Aliyah's genetic results/tests

Hello Lizette and Sean,

I hope all is well and Aliyah continues to make progress.

I have now received almost all the results for the tests recently sent.

All are negative so far.

These are as follows:

Chromosomal assay- negative for ring 20

CMA pending.

CSF negative for GLUT1 DS

CSF- normal amino acids, low HVA, other metabolites normal, no evidence of folinic acid responsive seizures

Urine- normal pipecolic acid

Urine organic acids no pattern specific for disease

SCN1A- negative for deletions/ duplications

Rett syndrome sequencing- negative

MERFF- ( myoclonic epilepsy ragged red fibre testing sent to Athena) negative.- mutations for MERRF 8244;8356;8363;8296

Redox panel- negative

CSF lactate and pyruvate- normal

Normal pyridoxal 5’ phosphate in CSF

CDKL5- pending

I think at this time, I would wait to see her response before commencing on more testing as any more testing now will be invasive ( muscle biopsy for example) and she is looking like she has cryptogenic spasms.

Have great day!

Charuta Joshi MBBS, FRCPC

Clinical Associate Professor

Division of Pediatric Neurology

2506 JCP, UIHC

200 Hawkins Drive

Iowa City 52242