Canavan Disease: A Case Study

This paper will present CHN's patient and their parent. Due to confidentiality the SW intern will only provide the first and last initials to protect the privacy of the patient and is legal documents of CHN. NA is an 8- year old male, who is diagnosed with autism and AHDH, and have delinquent behavioral problems in school. NA lives with his single mother LA, who is 33 years old and has several medical conditions due to her circumstances. LA is diagnosed with an eating disorder, hypertension, allergies, and shingles disease.

Canavan’s disease is a genetically inherited condition characterized by progressive degeneration of brain. It had high prevalence among the children of central and eastern Jewish decent. A research physician, Dr. Matalon, was contacted by Greenberg and the Chicago Charter Chapter of the National Tay-Sachs and Allied Disease Association, Inc. (NTSAD) (plaintiffs). The plaintiffs joined hands with doctor to find treatment options for Canavan’s disease. They provided him with financial support and help him built a database of genetic and epidemiological information by convincing the affected families to participate in the research. The participating families and the plaintiff shared an understanding that the discovered treatment will be available

This story breaks my heart because this child is near and dear to my heart. I have taken care of this child since the day that he was born. This child was born with a congenital heart defect that left him needing a new heart. He received his heart transplant about a year ago and since then, he has been re-hospitalized several times due to his blood work being off when coming into the clinic for check-ups and not gaining weight.

Ben’s early home life consisted of parents who did not discipline their child, or did not take notice to unusual behavior such as pulling on kitten’s legs. Being so young and not getting in trouble most of his early childhood, Ben has grown up with the idea that he can do what he wants and he will not have any severe consequences. Ben also exerts some primary issues such as disobeying, aggressiveness, violent threats, social immaturity and frustration. At school Ben exerts some serious anger issues when he tells his principal and teacher that he is going to go home and get his daddy’s gun to kill both of them. The first to be contacted after this instance is, Marcia McNeal, who meets with Ben’s parents and Ben many times throughout

For the purpose of this paper, I chose to observe my brother Matthew. He is 8 years old and currently in the third grade, with no applicable diagnosis. The setting of this observation was taken place at home on Sunday October 8th, 2017. The start time was precisely at 12:30 pm and extended for about two and a half hours, till 3 pm. The condition of the observation was fairly quiet, only my mother and I were present in the household. There were no distractions and his schedule allowed for him to stay at home due to the weather.

As explained in my essay, my brother’s condition did truly take a toll on my parents and myself in our daily life. My brother’s condition was never predictable, which made it much more difficult of a situation to deal with. There were times where he would not have a seizure for a few days. Yet, on other days, he would have about ten seizures a night. I remember clearly how somedays I had to stay home rather going to school just incase we had to take my brother to the hospital. Being the only English speaker in my family, I had to be present in such situations. I remember sitting on the side of his bed with my mother next to me, just waiting for him fall asleep so we could get some rest ourselves. There were times where I would go to school without getting much rest the night

A few years into the EMS, that thought rang true. Then, for another ten years, his father suffered slowly and silently. He suffered from frequent heart attacks, while never receiving treatment for them. I understand where he is coming from, as my own father drove himself to

At this point Ben feels what it means to be on the other side while he waits in the waiting room. This tremendous loss in Ben’s life inspires him to take on a surgery that will in a way make up for the loss. The case of the twins is rare to come by, and most surgeons will not even consider doing, but Ben decides to work with them and at least give them a shot at living. He does not give up for a second in this case, he takes this surgery very personal and spends most of his time reading books trying to figure out a way to save both of these children’s lives. Once Ben finds the key to perform the surgery, which came from the idea of the dripping faucet having something blocking it, then he proceeds to do the twenty-two hour surgery.

Ben receives “advice” from his teacher about him failing in medical school, Ben disagrees with his teacher and comes up with an idea. In the novel, Ben is told that he should drop out of medical school because of his failing grade, but when he is told this he comes up with a idea. Ben perceived he was not learning very well over lectures, so with his robust work ethic and some textbooks he studied hard. With some perseverance he began to understand his work and transcended in his

Canavan disease (CD) was first described by pathologist Myrtelle Canavan in 1931 after examining a baby’s brain postmortem. The child’s brain had a soft, white, sponge-like area that Canavan diagnosed as a “degenerative disorder of the central nervous system” (Ahmed, 2014), and the disease was later named after the pathologist. This disease is most commonly found in German and Eastern European (Ashkenazi) Jews; the odds of an Ashkenazi Jew being a carrier for the disease is 1 in 40, compared to the 1 in 300 odds for the rest of the population. 1 in 5,000 Jews have Canavan disease right now (HRF, 2015). Additionally, the number of non-Jewish patients is growing worldwide (Ahmed, 2014). This disease is a genetic disorder, so there are no environmental

It was a pleasure for both of us to meet the family we interviewed. They welcomed us into their lovely spotless home filled with love and good food. In this household there are 7 people living together. The mother and father are married with four boys. The eldest son is actually married and him and his wife switch off living at home or living with her parents. The next son is in college, the third is in high school and the youngest is in 5th grade. The youngest son has Prader-Willi Syndrome. This is a very low incidence disability that is unknown to most people. Prader-Willi Syndrome is a genetic condition that is a result of an abnormality in the 15th chromosome and only happens one out of 15,000 births. This condition results in the person not having the ability of ever feeling full and it causes a developmental delay which leads to being put in special education. The amount of love and compassion this family has for one another is astounding. It was very intriguing learning about the son’s disability and how the different family subsystems are affected.

In the winter of 2013, I lost my father to a rare disease called Hemophagocytic Lymphohistiocytosis (HLH). This disease is a life threatening immunodeficiency in which the body makes too many activated immune cells. He suffered bed rest for months on end in the hospital where I, nor any other of his seven children, were able to see him until his last day. I was only in eighth grade and was just starting to learn what it was like being a teenager in high school. Surviving the rest of the year was mentally exhausting and undoubtedly was the most challenging time of my life. It wasn’t until ninth grade when I truly realized I wasn’t the only one affected by the loss of my father. My widowed mother was torn in two and would never be whole

Since the 8:00 AM appointment that I was scheduled to observe was cancelled, Sarah spent a half hour with me sharing the details of the three very different patients they were to see that morning. Although they were all males, they ranged in age from 2 – 12 years old, one being a new referral and the other two follow-up appointments. After this instructive conversation, I then observed one of the follow-up appointments with a 12-year-old patient with partial trisomy 15Q who came to the visit with his adoptive mother. This patient is very medically complex and currently followed by many disciplines in the hospital, including Developmental Pediatrics, Urology, Colorectal, Psychology, Pulmonology, ENT, Endocrinology, Orthopedic Surgery, PT, Neurology and Audiology, in addition to a community ophthalmologist. Even though he participates in an age-appropriate, sixth grade classroom, his mother reports that his adaptive behaviors and intellectual functioning are commensurate with a 4-5 year-old.

Prior to my birth, when I was six months in utero, my father experienced a massive stroke for which he has spent the rest of his life trying to overcome emotionally and physically. The doctors were never able to provide my parents with a reason why, my then twenty-seven year old healthy father, suffered a massive stroke. The doctors proclaimed that the location of the stroke in the brain should have killed him, that the stroke was “a freak of nature”, and my parents “should be happy” he was still alive. My father spent the following three months at inpatient rehabilitation and was released home two weeks before my birth. According to my parents, when he was released home he was still incapacitated and had to learn to eat, talk, attend to personal

Alexa Kersting was just seven years old when she was diagnosed with lung disease and was placed on the organ transplant list at age 12, after developing pulmonary hypertension. As expected, she didn’t get to live the life of a normal kid. Alexa was either at home or at the hospital, being assisted by oxygen 24 hours a day. Due to her illness, her mother mentioned, “Alexa couldn’t do the things that most young girls are able to do, whether it was attending her first middle school dance, or riding bikes after school,” (DonateLife). Sadly, her fight ended when she was 14, in July of 2004 after her family never received that special call, saying a lung has been found for Alexa (DonateLife). She died waiting for a transplant. This issue happens