The girl, of Mississauga, Canada, underwent a barrage of tests as disease once the disease was eliminated. After seven months, doctors finally diagnose you with aromatic-l-amino acid decarboxylase (AADC)deficiency - a rare, genetically inherited disease. Shillann, mother of Rian, knew something was wrong not long once her daughter was born. She was sleeping most of the day and fed poorly. When Rian does not hit their developmental milestones - as four months can not be toys - their parents took to see a pediatrician. Between the ages of four months and 11 months, Rian passed through a long series of tests- resonances, electrocardiograms, blood tests and spinal taps. She was tested for more than 100 different diseases. After seven months ofmeter and insistence, doctors finally arrived at a diagnosis of AADC.' is nothing less than emotional torture, Shillann told the Hamilton of the arduous process Viewer. Every inch of his life is consumed with fear and concern. I will never forget that trip [from] drive to the hospital when he was called to say that they had a diagnosis. AADC affects the ability of the brain to produce neurotransmitters dopamine and serotonin that carry signals between nerve cells and brain. It is an extremely rare disease with only 130 cases known worldwide. Dr. Jim Dowling, a scientist and personal physician at the Hospital for sick children in Toronto, had diagnosed Rian. He says that he is only aware of two others in Canada with the condition. The average life of a child diagnosed with AADC expectancy is between five and seven years andthree children die each year, according to Shillann.And disorder takesa heavy physical load. Rian has a feeding tube and suffers oculogyriccrisis signs - a sudden spasm or torque of the muscle of the eye where the eyeball is fixed as sideways or upwards.
His mother says is produced every three days or so and that episodes can last for six to eight hours. Rian is unable to sit, roll, or use theirhands, and she cannot speak. She suffers from anxiety and, when he is upset, can cry so much that I am going to vomit. It is in nine different medications. Shillann said: 'She is blocked [within her own body]'. I know that what you want to do... but who can not move.' However, there is a new gene therapy to treat the AADC that Shillann is hopefulabout. It takes a working copy of the AADC gene and surgically implants in the brain. The gene acts as a replacement and allows the patient to produce dopamine and serotonin. Reports have been releasedon the success of the therapy. For a young Taiwanese man, went from being bedridden to withstand its own after gene therapy and a couple of years of physical therapy.
'I think of it like thousand times a day', said Shillann, adding that waiting to soon be approved for use in treatment of North America.The is currently in clinical trials in the United States.Family friends have created a GoFundMe page to help cover medical expenses of Rian. It has arisen out of the goal of $30.00 $26.450. Meanwhile, the family is working on awareness and will host an event to raise funds in April - the half of the money raised will help the medical needs of Rian and the rest will be donated to the AADC Research Trust in the United Kingdom.
WHAT IS AADC?
Aromatic l-amino acid decarboxylase (AADC) deficiency is a rare, inherited disease genetically. It affects the way in which signals pass between certain cells in the nervous system and affects all aspects oflife, including mobility and development - similar to Parkinson's disease. There are 130 only known cases of AADC worldwide.
SUCH AS DETECTING THE AADC
AADC means aromatic-l-amino acid deficiency decarboxylase - an incredibly rare, genetically inherited disorder.
Affects the shape of the signals are transmitted between certain cellsin the nervous system.
Only 130 known cases of AADC worldwide - about 20 percent of these people there are from Taiwan.
Life expectancy of diagnosed children is between five and seven years.
Signs and symptoms:
Severe developmental delay
Weak muscle tone (hypotonia)
Muscle stiffness
Difficulty moving
Involuntary movements of the extremities (athetosis) torque
Lethargy
Poor feeding
Sleep disorders
Oculogyric crisis, signs - abnormal rotation of the eyeballs
Extreme irritability and agitation
Pain, muscle spasms and uncontrolled movements, especially head and neck
The symptoms tend to get worse on the day or when the individual is tired and improves after sleep.
There is currently no known cure for the AADC although often different medications are used
0 comments:
Post a Comment