Mosaic Angelman's Syndrome Case Study

Ashlei Frazier couldn't believe that her young daughter was the one out of many others to be diagnosed with this terrible disease. At 18 months Ashlei thought Madyn looked a little pale, she assumed it was just a virus. However, Madyn’s pediatrician suspected cancer, and immediately referred her to Valley Children's.

The IEP meeting had the purpose of evaluating the child’s previous disability, and to determine if the child will continue to qualify for IEP services. The child’s disability was speech delay, according to Heward, he describes speech delays, when speech it is not understood by others (2006).

To find that a member a family has learning difficulty is a huge shock for the rest of the family and brings emotions and new challenges. Living with a disabled person can have profound effects on the entire family–parents, siblings(brothers and sisters).For parents, having a disabled child

Describe the possible impact on a family of having a member with a learning disability.

Poor health and disability will affect a child’s social and emotional development because they may not be able to do things that their friends can do and not feeling included. Disability can have a positive affect for other children who are friends with a disabled child because they learn empathy and to accept their disability, not just point and stare when they see a disabled person. It also helps the disabled child to feel included with their peers. It also helps the children to learn to care for each other.

6). However, in the case of these extreme conditions there is no cure for the child and as a result the parent is forced to grieve their “lose” and move on which many times mean, if there is another child already or when the next one comes all the parents transfer their big dreams onto them (Laferriere lecture, 2015). The transference of these dreams from the disabled child to the typically developing child can be trying and can take on many different forms depending on the age of the child. The effects of this transference vary depending on how the typically developing was raised, if at an early age, they had been taught about the differences caused by these disabilities and the limitations of the special needs sibling these children are on a better path (McHugh

Every parent wants the best for their child, after all a child is a person’s most precious possession. For this very reason having a child with a learning disability becomes extremely stressful. Nathan V’s was a very outgoing child verbally articulate and a

The characteristics typical of Angelman syndrome derive from the "loss of function of a gene called UBE3A" which is derived from the mother (Stรถppler 2012). "People normally inherit one copy of the UBE3A gene from each parent" and both are activated in most of the body (Angelman syndrome, 2011, Genetics Home Reference). However, "in certain areas of the brain...only the copy inherited from a person's mother (the maternal copy) is active...If the maternal copy of the UBE3A gene is lost because of a chromosomal change or a gene mutation, a person will

There are several issues related to parental reactions to having a child with a disability. Having a child with a disability can have an effect on family dynamics as well as a change in work habits, some parents have to work fewer hours, change jobs, or become a stay at home parent in order to properly care for their child’s needs. Parents cope with their guilt, feelings, and public reactions

Prospective parents will have a better opportunity to decide if they want a kid with disabilities. If so, they can properly prepare what type of special care their potential child might have. This also gives the future parents a chance to accumulate what will come once the child is born. Although if the parents find out that their child might have a condition they may change their

and Mrs. Barnes proved to be very insightful about their own struggles but did not reveal much about their relationship with their daughter or other family member. Most of our conversations were centered on the couple’s chronic health related problems. Mr. Barnes provided background information in regards to his recent heart attack while Mrs. Barnes revealed her own health struggles. She disclosed that ten years ago she was diagnosed with leukemia and since then, has been battling the disease. She talked about being unable to get a bone marrow transplant because of her other preexisting health condition.

Mother: We tried for several months to get pregnant before we were successful. We both were reluctant to try for a child again because of a traumatic miscarriage I experienced several years prior. We both really wanted to be parents and made a tough decision.

al (2014) it is suggested promoting a positive relationship between all family members is beneficial to the family. According to Whiting (2014) 9% of families stated that having a child with a disability led to a family break-up. Whiting (2014) suggests that 23% of parents believe having a child with a disability brought them closer.

For my final project I interviewed my mother’s friend Tammy Carnes who’s son is diagnosed with cerebral palsy. During our interview we discussed what it is like we raise a child with a disability, and how the educational system aided in dealing with her child’s everyday needs. After completing this interview I feel a little more understanding of how the parent of said child may feel when dealing with the educational system meeting their child’s particular needs. A high point of the interview was Ms. Carnes’s surprise to the amount of dedication the educational system is making to ensure their teachers are well prepared for the different types of disabilities children may have. A part of the interview that surprised me was how truly patient

Being told that your child has a disability can be traumatizing. Many parents get stunned by