information on rare and deadly diseases.......?

Question

hi im maggie and im 14 yrs old. my brother has cerebral palsy, ataxia, mitochondrial disease and is legally blind. his name is charlie and he is 16 yrs old. by reading my questions some people probably think im crazy but the truth is im just very confused... my mom and dad wont tell me about what is going on with him, even when he goes to the hospital for weeks at a time. and the truth is--- im scared to search for what he has on the internet because im afraid of what ill find out. all i know is that is gets worse every day--- scary right? well if you have any info on any of these things i think i really need to know
thanks- from me and charlie :)

Answer 1

Cerebral palsy (CP) is a disorder that affects muscle tone, movement, and motor skills (the ability to move in a coordinated and purposeful way). Cerebral palsy can also lead to other health issues, including vision, hearing, and speech problems, and learning disabilities.

CP is usually caused by brain damage that occurs before or during a child’s birth, or during the first 3 to 5 years of a child’s life. There is no cure for CP, but treatment, therapy, special equipment, and, in some cases, surgery can help a child who is living with the condition.

Your brother, Charlie probably has ataxic cerebral palsy which account for his disturbed sense of balance and depth perception . Visual impairment or blindness is another associated medical problem.


His mitochondrial disease or cytopathy is DNA related. The common factor among these diseases is that the mitochondria are unable to completely burn food and oxygen in order to generate energy

The types of mitochondrial diseases are categorized according to the organ systems affected and symptoms present. Mitochondrial diseases might affect the cells of the brain, nerves (including the nerves to the stomach and intestines), muscles, kidneys, heart, liver, eyes, ears, or pancreas. In some patients, only one organ is affected, while in other patients all the organs are involved. Depending on how severe the mitochondrial disorder is, the illness can range in severity from mild to fatal.

Depending on which cells of the body are affected, symptoms might include:

Poor growth
Loss of muscle coordination, muscle weakness
Visual and/or hearing problems
Developmental delays, learning disabilities
Mental retardation
Heart, liver, or kidney disease
Gastrointestinal disorders, severe constipation
Respiratory disorders
Diabetes
Increased risk of infection
Neurological problems, seizures
Thyroid dysfunction
Dementia (mental disorder characterized by confusion, disorientation, and memory loss)
How common are mitochondrial diseases?
About one in 4,000 children in the United States will develop mitochondrial disease by the age of 10 years. One thousand to 4,000 children per year in the United Sates are born with a type of mitochondrial disease.

In adults, many diseases of aging have been found to have defects of mitochondrial function. These include, but are not limited to, type 2 diabetes, Parkinson's disease, atherosclerotic heart disease, stroke, Alzheimer's disease, and cancer. In addition, many medicines can injure the mitochondria.

What causes mitochondrial disease?
For many patients, mitochondrial disease is an inherited condition that runs in families (genetic). An uncertain percentage of patients acquire symptoms due to other factors, including mitochondrial toxins.




Causes of Cerebral Palsy
The exact causes of most cases of CP are unknown, but many are the result of problems during pregnancy in which the brain is either damaged or doesn't develop normally. This can be due to infections, maternal health problems, or something else that interferes with oxygen reaching the fetal brain. Problems during labor and delivery can cause CP in some cases.


The reasons why your brother goes tothe hospitals often are for regular therapies. Therapies can help kids with CP achieve maximum potential in growth and development. As soon as CP is diagnosed, a child can begin therapy for movement, learning, speech, hearing, and social and emotional development. In addition, medication, surgery, and braces can help improve muscle function.

Surgery can help repair dislocated hips and scoliosis (curvature of the spine), which are common problems associated with CP. Severe muscle spasticity can sometimes be helped with medication taken by mouth or administered via a pump (the baclofen pump) implanted under the skin

Answer 2

CP is from a brain injury. The Legally Blind isn't really connected to the CP. Cerebral Palsy and legal blindness does not cause someone to be hospitalized. The mitochondrial disease can be very serious.
You and your brother need to sit down with your parents. You need to tell them that you are not babies and you can handle it. Tell them that not knowing is sometimes a lot worse. Let them know your fears and feelings. Tell them you don't want surprises. Show them my letter if that helps. You are obviously an intelligent young woman and I believe you when you say you can handle it. There is power in knowledge and you arent a little kid anymore.
You can email me anytime.
My brother has CP and I am legally blind. I am also old (50) and would like to be supportive.