Child Life by Hana Sabrine Hubert

   Child life specialists are pediatric health care professionals who work with children and families in hospitals and other settings to help them cope with the challenges of hospitalization, illness, and disability. They provide children with age-appropriate preparation for medical procedures, pain management and coping strategies, and play and self-expression activities. They also provide information, support, and guidance to parents, siblings, and other family members. Child life specialists collaborate with parents and other health care professionals to meet the distinct needs of children in managing the effects of stress and trauma. Because children may feel overwhelmed, child life professionals help children gain a sense of familiarity and control of their environment through play and exploration inside the healthcare facility. Understanding that a child’s well-being depends on the support of the family, they also provide information, support and guidance to parents, siblings, and other family members.

          I think that the Child Life section should have an area where they can create their own movie, so that they can express what they are going through, feeling, or love, in a cartoon. I have an app called Toontastic, and I created a movie based on a book I read, and I could draw the characters, and animate them through an adventure of my choice, and I could even choose the feelings for each scene. I hope that we can raise awareness so that the children can know that their are people out there that care.

MMA Methylmalonic Acidemia

Methylmalonic Acidemia by.Aadil Syed

Methylmalonic acidemia is also called MMA, and it is an autosomal recessive metabolic disorder.It is a classical type of acidemia.

Methaylmalonic acidemia stems from several genotypes and secondary hyperammonemia. The disorder can result in death if undiagnosed or left untreated.

Ginetic

The inherited forms of methylmalonic acidemia cause defects in the metabolic pathway where methylmalonyl-coenzyme A (CoA) is converted into succinyl-CoA by the enzyme methylmalonyl-CoA mutase.

Vitamin B is also needed for the conversion of methylmalonyl-CoA to Succinyl-CoA. Mutations leading to defects in vitamin B₁₂ metabolism or in its transport frequently result in the development of methylmalonic acidemia.

This disorder has an autosomal recessive inheritance pattern and this means that the defective gene is located on an autosome, and two copies of the gene—one from each parent and this must be inherited to be affected by the disorder. The parents of a child with an autosomal recessive disorder are carriers ( a carrier is a person who has a g of one copy of the defeene but it is not dominant so they don’t hagenee it but their offspring may have it) , but are usually not affected by the disorder.

Nutrition

A severe nutritional deficiency of vitamin B₁₂ can also result in methylmalonic acidemia.^[6] Methylmalonyl CoA requires vitamin B₁₂ to form succinyl-CoA. When the amount of B₁₂ is insufficient for the conversion of cofactor methylmalonyl-CoA into succinyl-CoA, the buildup of unused methylmalonyl-CoA eventually leads to methylmalonic acidemia. This diagnosis is often used as an indicator of vitamin B₁₂deficiency in serum.^[7]

Pathogenesis

Methylmalonic acidemia has varying diagnoses, treatment requirements and prognoses, which are determined by the specific genetic mutation causing the inherited form of the disorder.^[4] The following are the known genotypes responsible for methylmalonic acidemia

Cerebral Palsy [also known as CP] By Anaum Allimulla

Cerebral palsy is a disorder of movement, muscle tone or  posture that is caused by an immature developing brain, most often before birth.In general, cerebral palsy causes impaired movement  associated with exaggerated reflexes, floppiness or rigidity of limbs and trunk, abnormal posture, involuntary movements, unsteadiness of walking, or some combination of these. People with cerebral palsy may have difficulty with swallowing and commonly have eye muscle imbalance. People with cerebral palsy may have reduced range of motion at various joints of their bodies due to muscle stiffness.

The effect of cerebral palsy on functional  abilities varies greatly. Some people are able to walk while others aren't able to walk. Some people show normal to near normal intellectual function, but others may have intellectual disabilities. Epilepsy , blindness or deafness also may be present. People with Cerebral Palsy often have underlying developmental brain abnormalities.

Cerebral Palsy is the name given to a number of motor problems which usually result from the damage done to the brain during early childhood. It is called Cerebral Palsy because the area of the brain that is damaged is the Cerebrum. It cannot be cured. Scientists are currently looking for a way to stop cerebral palsy from happening and to cure it. It is treated with therapies. The person affected often has trouble standing or walking. Those may also suffer from other problems such as learning difficulties or mental retardation. Did you know that 1 in every 400 children in the UK has cerebral palsy. Although there several types of cerebral palsy . Most people with this condition live as long as people without it. This is first identified by an English surgeon called WILLIAM LITTLE in 1860.

So please support and help us in our effort to raise awareness about various rare diseases !

Rare Disease: Autism

Many people know what Autism is. I am going to tell you more facts about it that you may not know.

 It is basically a mental condition present from early childhood. One person in every 68 children has Autism. One person in every 42 boys has Autism. Unfortunately, Autism doesn't have any cure. But just because someone has Autism doesn't mean that that person is bad. It just means that that person needs special care and a little more attention then a normal person. Just because someone has Autism doesn't mean they can't accomplish things in life. In fact an Autism child named Devin Ross actually made it to the Swimming Olympics! You can see that Autism people have special talents too.

Even though Devin Ross had Autism, he still went to
the Olympic Trials!

Autism children are special too!

AUTISM

There are many different type of autism. About one out of every 88 children in the United States currently has autism. About 36,500 of every 4 million children born each year in the United States will have autism. Autism is a brain disorder that often makes it hard to communicate with and relate to others. With autism the different areas of the brain fail to work together. Boys are nearly five times more likely than girls to have autism. There is no cure for autism. Most people with autism will always have some trouble relating to others. Autism tends to run in families, so experts think it may be something that you can inherit( which means passed to children from parents through genes). This condition came up as a result of a neurological disorder that has an effect on normal brain function, also affecting development of the person's communication and social interactive skill.
Autism typically appears during the first three years of life. Some children show signs from birth.

ASPERGER'S SYNDROME  is a kind of Autism where the person or child is very intelligent but have the same social problem and limited scope of interests as children with autistic disorder where kids and problems with communication and social interaction .
Smilarly , RETT SYNDROME is where children primarily girls start developing normally but then begin losing their communication n social skills. children with this syndrome are usually cognitively (meaning lack of memory , or judgement) impaired.
so come help raise awareness about Autism and spread some extra love and care to these children so we can see them smile :-)

 SO BE KIND TO EVERY KID BECAUSE THEY ARE SPECIAL IN THEIR OWN WAY...

Thalassemia by Hana Sabrine Hubert

                Thalassemia is a blood disorder that is inherited. The body makes an abnormal form of hemoglobin, which is the protein in red blood cells that carries oxygen. This results in excessive destruction of blood cells, which leads to anemia, meaning you don't have enough healthy red blood cells to carry adequate oxygen to your tissues. Thalassemia can cause significant complications, including iron overload, bone deformities and cardiovascular illness. If a person receives a beta thalassemia minor from his father and another from his mother, he will have beta thalassemia major. If a person received an alpha thalassemia trait from her mother and the normal alpha parts from her father, she would have alpha thalassemia minor. Having a thalassemia minor means that you may not have any symptoms, but you might pass that trait on to your children and increase their risk of having thalassemia. If you have thalasseemia major, you will have to get blood transfusions. It's important to know about rare diseases and continue extensive ongoing  researches, so please help us increase awareness, and donate.

 

Down Syndrome

There are many rare diseases that kids, teens, and adults suffer from. One disease is Down Syndrome. If you have this disease it means that you have 47 chromosomes than the usual 46  chromosomes your supposed to have. The condition can cause delay in the way a person moves, both mentally, and physically. It usually affects about 1 in every 800 babies born in the United States. Some physical features that happens because of this is flat facial profile, a upward slant to the eyes, small ears, and a protruding tongue. Most of the time babies that get this will be born at a normal size but as he/she gets older they grow at a smaller rate and usually shorter than their peers. Some mental problems are they can have delays in speech, and self-care like feeding, dress, and toilet teaching. There are many more affects that can happen because of this disease.  Let's help the people with Down Syndrome and try to stop the disease.

Let's help these people, and try to stop the disease. :)