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LisaF
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Number of posts : 329
Age : 51
Location : Croydon, UK
Registration date : 2008-01-09

PostSubject: Help with Diagnosis   Fri Jun 04, 2010 6:02 am

Hi Dana

Lovely to hear from you...you can become a member by registering using the link in the main menu at the top of the page. If you enter your username, password and country (I think) it will alert me to a New Member and I will activate your membership immediately. There is some interesting information in these forums so maybe it will help a little.

My number to call is + 44 (0) 1883 627150 and i'm sure we can find a way to communicate by taking our time, I'm very happy to give it a try. Post me a message and telephone number in 'private messages' after registration and if I can call you...rather than post your number here in a public place. Also my email address is lisa@aadcresearch.org

Look forward to talking soon.
Love
Lisa
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Dania
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PostSubject: Re: my daughter   Fri May 21, 2010 2:37 pm

Hi Lisa and Nancy ,and thank you very much for your replay.I will try to contact a dr AADC specialist in Greece,but first of all we have to find a neuro who is interested in neurotramitters disorders in Italy.Today my daughter had a neuro consultation and dr told that is almost surely she has a genetic form of dystonia with hypotonia ,fluctuacting muscle tone ,oculogyric crisis,autonomic problems etc.I noticed that she feels better now when she starts to take drugs which improve seretonin and nerodrenaline ,and Gaba .she tried L-dopa but she had dystonic atack after taking it ,so maybe she has too much L-dopa and she is deficient of dopamine ...who knows.
We try a lot of drugs and I think that if my daughter has similar syndrome to your children ,we can share our experience that is interesting in some points.
I will phone Lisa,but Im not sure if my english is good enought for conversation:)
Can I be a member of AADC forum?it would be for me very interesting ,as I don't know anybody with problems of neurotransmitter disease ,and we feel so alone.How can I register on this board?
and what about an italian family with AADc I would be very happy to talk about symptoms and italian experience of AADC.
take care
Dana e Katerina
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LisaF
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Number of posts : 329
Age : 51
Location : Croydon, UK
Registration date : 2008-01-09

PostSubject: Help with diagnosis   Mon Apr 26, 2010 7:06 pm

Hello Dana

I was just wondering how you and your daughter are getting on with trying to find a correct diagnosis...did you follow Nancy's advice and get in contact with Dr Roser Pons? We have another AADC family in Italy, please contact me if you would like their details and they will share with you their experiences and frustrations with treatments and Dr's in Italy.

The symptoms do sound very similar to AADC and to have it confirmed your daughter would need to have a lumbar puncture and this sample sent to a neurotransmitter lab. We can probably do the screening here in the UK for free.

If you would like to call me to see if we can organise help with your situation my number is: +4401883627150, I will take a number from you and call you straight back. Alternatively you can send me a number to call you on and a time to suit you.

Kind regards and look forward to hearing from you
Lisa
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nbruno

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Number of posts : 21
Age : 49
Location : Florida, USA
Registration date : 2009-03-20

PostSubject: Re: my daughter   Tue Apr 13, 2010 3:55 am

Hi Dana,

My name is Nancy & I have twin girls with AADC. Unfortunately this disorder is so rare that there are very few specialist that deal with it. What you need to do is have your neurologist contact a Doctor that has experience with the disorder. That doctor will guide your neurologist with recommendations of medications that may help. Please be prepared it can be a very slow process at times; These doctors are extremely busy. Be persistent so you stay on the top of their list. It's easy to get lost in their pile of things to do.

here is a Doctor listed on this website. I heard she is very willing to give advice/ help to doctors and parents.

Roser Pons, MD
Paediatric Neurologist/Subspecialty in Movement Disorder

Agia Sofia Hospital
Thivon & Livadias
11527 Goudi - Athens
Roser Pons, MD
Paediatric Neurologist/Subspecialty in Movement Disorder
Greece
Tel: + 30-210.77.94.023
Fax: + 30-210.77.59.167
Email: rosepons@otenet.gr


I wish you best of luck in getting the answers you are looking for.

Please feel free to email me directly with any questions nbruno99@yahoo.com

Nancy
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dania
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PostSubject: my daughter   Wed Feb 24, 2010 8:53 am

Hi all!
My daughter is 26 and we don't know the right diagnose till now ,we live in Italy.She was diagnosed with myasthenia becouse she is very weak sometimes,and she has intermittent ptosi.She was diagnosed with paroxysmal dystonia too ,she has very low BP .Every afternoon she has oculogyric crisis of about 2 hours,her eyes are completely out of control,they roll back and you can see only white sclera ,or they move like opsoclonus myoclonus,she has alternating strabismus sometimes like convergence spasm she has blepharospasm like attack very often.Her gait is strange sometimes ,a little ataxic .No one neuro we know have seen ocular movements attacks like my daughter has.We tried L-dopa but she had dystonic attack after a small dose.Neuropsychiatrist sospected neurotramittors disease ..but till now we are without sure diagnose.Now they say its not myasthenia ,its not pure dystonia so ...what it can be?Isaw video of Jake and video of tweens ,and baby with convergence spasm on the site and it is incredibily very similair what my daughter has.
Do you know about some specialist in AAD in Italy?What do you think about symptoms of my daughter?
kind regards
Dana from Rome
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