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 My Niece has Aromatic L-Amino Acid Decarboxylase Deficiency

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jbriley

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Number of posts : 69
Age : 45
Location : usa
Registration date : 2008-04-10

PostSubject: 20yr old daughter   Wed Sep 23, 2009 5:42 pm

Annette,
Hi! I'm Jennifer Briley, Mother of Sydney Claire Briley. Sydney Claire was diagnosed April 1, 2008 she wasn't yet 4 months old. I read your story and I was in tears. We too were misdiagnosed a couple of times. The hardest part for me was not knowing. But also knowing what they were telling me didn't seem to fit. Reading your story brought back memories for me and I'm sure a lot of others. My heart goes out to you that you've been dealing with this for so long. I pray that you will get the answers you need. I can tell you I was devastaed when Sydney Claire was diagnoes but one day Lisa called me out of the blue. That day I looked at this website and found a new family. All of these Moms are amazing. They all fight so hard for their children and their children's health. We share so much information. It's nice to have some one to talk to who knows exactly how you feel. Lisa is amazing, but if I can help in anyway I'll be glad to. Answer questions about Sydeny Claire what meds she takes, whatever.

Jennifer Briley
Hugs and Kisses to Akasha
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LisaF
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Number of posts : 329
Age : 51
Location : Croydon, UK
Registration date : 2008-01-09

PostSubject: Re: My Niece has Aromatic L-Amino Acid Decarboxylase Deficiency   Sun Sep 20, 2009 11:54 pm

Hi Annette

Your story is incredible and I hope we can be of help to you at this difficult time. My name is Lisa and i have an 11 year old son with AADC. I would love to talk to you...please send a private email to lcflint@orbic.co.uk so we can exchange numbers. I will call at a convenient time to you and hopefully try and help you understand a little more about AADC and our young sufferers.

Look forward to hearing from you soon
Regards
Lisa
(mum to Jake - AADC age 11)
Managing Director AADC Trust
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Netty5
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PostSubject: possible diagnosis   Sun Sep 20, 2009 2:28 pm

Hello,
I'm feeling a little desperate to understand AADC. On a recent visit to our neurologist he felt that he may have a correct diagnosis for my 20yr old daughter. YES 20yrs of waiting. My daughter was originally diagnosed with Angelman Syndrome. But when she started to deterriate the doctors felt that they made a mistake and diagnosed her with Atypical Rett Syndrome. Keeping in mind she has never tested positive for any genetic testing they have done on her.
In the last few months on many visits to our neurologist he noticed that my daughter frequently rolls her eyes in her head. Rolling them back and almost looks like they get "stuck" there. I always thought it was a behavioural issue but our neurologist seems to think they are oculgyric crisis. Hope I spelt that right.

Can anyone tell me how their child has developed? Is it even possible that my daughter has had this particular disability without treatment all these years and survived? We can NOT do a spinal tap as she had spinal fusion when she was 9yrs old and her spine is totally fused. But the neuro feels her blood should be a good start.

Thank you for any help
Annette mom to Akasha
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LisaF
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Number of posts : 329
Age : 51
Location : Croydon, UK
Registration date : 2008-01-09

PostSubject: Re: My Niece has Aromatic L-Amino Acid Decarboxylase Deficiency   Tue Nov 25, 2008 4:34 pm

Hello Hannah
The Story about Marlie is all too familiar with other AADC families Sad and the pictures of her are just beautiful queen . I was one of the luck AADC families to meet Andrea and Marlie back when she was first diagnosed at the conference about neurotransmitter diseases and it's lovely to see how she's growing up, sadly I know she is still plagued with the many problems of AADC deficiency...but we will also continue to do our best to help her and all other children like her.
It's wonderful to know people close to Marlie are understanding study and advocating Razz AADC deficiency in every way they can, so on behalf of all AADC families thank you.
Kind Regards
Lisa
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Hannah K
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PostSubject: My Niece has Aromatic L-Amino Acid Decarboxylase Deficiency   Mon Nov 24, 2008 6:55 pm

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Marlie Craw was born on March 30, 2003 in Hampstead, North Carolina. She was a premature baby, struggling everyday with a disease that no one could diagnose. After many months, her mother, Andrea Karns decided that if the doctors were not able to figure out what was wrong with Marlie, she was going to try her best to. So with all of Andrea’s hard work from researching Marlie’s symptoms on the internet and medical encyclopedias, she finally believed she had diagnosed her daughter herself. Andrea then took Marlie to the Chapel Hill hospital and was introduced to Dr. Tennison. Dr. Tennison informed Andrea that he had just seen a case of Aromatic L-Amino Acid Decarboxylase Deficiency. He then began the process of diagnosing for AADC, which is having a lumbar puncture taken, two types of blood tests, and a urine collection. Finally, on Marlie’s first birthday, three months later, the results came in, and Marlie had been diagnosed with AADC.
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To learn more about Aromatic L-Amino Acid Decarboxylase Deficiency, Andrea and Marlie attended trips to conferences about the Pediatric Neurotransmitter Disease Association. While attending these conferences, families discussed with clinicians and researchers about the diagnosis and how to understand and treat the disorder. They were able to talk one-on-one with professionals and had an opportunity to talk with families who are also affected with AADC.
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Children who have AADC are treated in many ways to provide hope for their future. These treatments can include physical therapy, speech therapy, occupational therapy, and assistive technology. Physical therapy evaluates the child’s medical history, muscle tone, strength, range of motion, flexibility, posture, balance, co-ordination, and respiration. This is so that the child’s muscles strengthen in hopes of one day being able to move on their own. Speech therapy examines the child’s speech, language, and communication. This gives children the option to communicate in ways other than words. Assistive technology can involve an activation switch in a computer in which the child is able to move the mouse cursor to a word or picture on the computer and the word is then said aloud. It also consists of special wheelchairs for children to move around on their own. Occupational therapy allows children to take part in activities such as horseback riding, swimming, dancing, and other specialized activities to let them access the world like any other child would.
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Marlie is a very special girl. She loves to spend time with her family, especially when it gives her a chance to smile and laugh. Cognitively, Marlie understands everything that is being said. When she hears something upsetting, she cries. When she hears something funny, she laughs. When she sees her loving family, she smiles. But these are the only ways she can communicate. She loves watching people dance and sing. But only a certain type of music makes her happy. She will listen to anything that has a good beat, whether it be rock and roll, rap, or pop. But when it comes to listening to a well known singer, Josh Groban, she just cries and cries until it stops. She has a mind of her own, and she is just an amazing child to be around.
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Because there is not enough funding for research, no one knows exactly how long a child with AADC has to live. For my senior project, I wrote an argumentative paper stating that it is imperative to fund for research. Research costs about fifteen million dollars, and because it is a very unknown disease, families need to get the word spread around the world. My hope for this project is to spread the word, especially to the government, so that we can research and find a cure for Aromatic L-Amino Acid Decarboxylase Deficiency.
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