Question: A 5-year-old boy named Billy lives with his parents, Bob and Shirley in a quaint neighborhood in the Philadelphia suburbs.
11 Dec 2022,4:41 PM
Case Study:
A 5-year-old boy named Billy lives with his parents, Bob and Shirley in a quaint neighborhood in the Philadelphia suburbs. Billy has lots of friends that he met through preschool due to his amiable and precocious personality. He is very acHve and enjoys playing outside. This year, Billy joined a soccer team and was selected by the coaches as an all-star because he scored the most goals in the league. Billy has been relaHvely healthy throughout his life with only an occasional head cold along with seasonal allergies. He is up to date with vaccinaHons and has reached all developmental milestones on Hme (speaking, crawling, walking, running).
Recently, Billy’s soccer coach made a comment to Bob and Shirley that he “lost a step” from last season and asked if Billy had lost interest during the offseason. Although, the muscles in Billy’s legs have increased in size, he was being pushed over more easily by his teammates in pracHce. Bob and Shirley stated Billy had a soccer ball by his side every day since the last season ended and pracHced every chance he could because he wants to be a professional soccer player when he grows up. Bob and Shirley were concerned about the sudden change and brought Billy in to see a doctor to discuss the issue.
In the doctor’s office, a physical exam was performed and weakness was observed in the thighs and lower limbs. Billy had difficulty ge\ng up from a si\ng posiHon (When ge\ng out of a chair, he used his arms to liN himself out of the chair instead of using his legs). No decreased sensaHon was noted in his hands or legs. ANer careful addiHonal diagnosHc tesHng, Billy was preliminarily diagnosed with Duchenne Muscular Dystrophy (DMD).
DMD is an X-linked disease that causes progressive muscle weakness starHng in the proximal muscles in the lower limb affecHng the thigh and then moves distally affecHng the leg. The ability to walk is completely compromised by age 13. Next, muscle weakness becomes apparent in the proximal upper limbs and moves distally to the forearms and hands. Weakness turns into paralysis in the affected areas and eventually the respiratory muscles become paralyzed, which is the most common cause of death. Intellectual ability is usually not affected.
Currently, there is no cure for DMD. The average life expectancy is 25-30 years old but with excellent care, an individual can live into their 40s. The aPending physician has a discussion with Billy and his family about what to expect regarding the disease progression and potenHal management opHons of the disease.
Management opHons of the disease include:
1. Cor7costeroid medica7ons daily: slows the progression of the disease during the first two years aNer the onset of symptoms by reducing inflammaHon that can exacerbate the destrucHon of muscle proteins. The cost of the medicaHon is substanHal and only helps to increase the muscle strength in the short term. Side effects are mild.
2. Membership to a gym with access to a swimming pool: Physical acHvity is encouraged. InacHvity speeds disease progression due to atrophy to the muscles. Non-weight bearing exercises can help to slow the decline in muscle strength. The cost of membership to a gym and proper supervision by an adult is required. No improvement of symptoms will be gained but worsening of symptoms will be delayed.
3. Physical therapy and Orthopedic Appliances: As the disease progresses, mobility will decrease. Weekly sessions with a physical therapist with concurrent use of orthopedic devices (braces and wheelchairs) can help maximize muscle strength and flexibility to maintain the paHent’s muscle funcHon as long as possible. Physical therapy is expensive and requires commitment by the child and family to follow the program. Yet, it allows for independence to be maintained for the paHent as long as possible. Exercises given by the physical therapist must be completed at home with adult supervision.
4. In home aide: Home health aides are a specialist that can assist the paHent in daily acHviHes and can supervise throughout the week. The cost is very expensive but the hiring of a home health aide can allow parents to go to work (earn a living) and helps with daily chores around the house to maintain a safe home environment for the paHent.
5. Ven7lators: In the late stages of the disease, respiratory muscles are weakened and become paralyzed requiring the use of equipment designed to breath for the paHent. Once on a venHlator, the paHent will not be removed. The cost is high and the amount of Hme leN aNer the paHent is put on the venHlator is very short.
1. Billy and his family are presented with all of the aforemen7oned management op7ons for the disease. Place yourself in the role of a physician who has been newly assigned this case to manage. Complete Table 1, by outlining at least two pros and two cons of each management modality specific to Billy’s case (10 points).
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Table 1: Risks and Benefits (pros and cons) of Billy’s DMD possible treatment op7ons
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Pros
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Cons
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CorHcosteroid MedicaHons Daily
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Membership to Gym
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Physical Therapy and Orthopedic Appliances
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In-Home Aide
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2. Based on the informa7on compiled in Table 1 regarding each management op7on and the specifics of Billy’s case detailed in the case study, which management op7ons would you select to implement into Billy’s treatment plan? Jus7fy your response and explain your decisions. There is no one right answer. Your explana7on should be one paragraph in length (5 points).
New informa7on has been ascertained in a second follow up visit:
The physical exam (Gower’s sign) and paHent history strongly suggest Duchenne muscular dystrophy (DMD), however DNA tesHng is required to confirm the diagnosis and also determine which geneHc variant of DMD Billy possesses. Billy’s primary care doctor had arranged for geneHc tesHng of Billy and his parents along with a family history to develop an inheritance paPern (pedigree) of the disease specific to their family. Depending on the paPern of inheritance Bob and Shirly may be at risk to pass the DMD gene on to future children.
The results show that Billy does have a dystrophin gene mutaHon while Bob and Shirley do not. The inheritance paPern (pedigree) of the parHcular geneHc mutaHon that caused Billy to develop DMD shows no family history of the disease over three past generaHons. This suggests the geneHc mutaHon was spontaneous. This means Bob and Shirley are at low risk to pass DMD on to future children.
Currently, a one-year gene therapy experimental trial is enrolling new paHents between the ages of 3-10 that have a spontaneous mutaHon and are in the early stages of the disease (paHent started showing symptoms within the last two years). Billy is therefore a candidate for treatment. The clinical trial has passed Phase I and II and is now the showing promise as Phase III rolls out. The treatment uHlizes an adenovirus as a delivery system to preferenHally target the gene coding for the abnormal protein (dystrophin) responsible for development of the disease. In earlier clinical trials (Phases I and II), results showed that 25% of the paHents showed significant improvements in their funcHonal abiliHes for up to two years aNer the clinical trial concluded while 50% of the paHents showed a slowing of the progression of funcHonal abiliHes compared to paHents not parHcipaHng in the clinical trial. 25% of the paHents dropped out due to adverse side effects or showed no benefit from the trial. No informaHon regarding quality of life aNer two years is available as the study is ongoing. It is unknown what the long term risk of the treatment are at this Hme.
The trial is being run out of only two clinics in San Francisco, California and to parHcipate in the clinical trial, the paHent and caretakers must live near the clinic for one year for weekly monitoring and funcHonal assessments. Expenses for medical tesHng, funcHonal tesHng and gene therapy are free to parHcipants but housing, relocaHon costs, and addiHonal management opHons are paid by the parHcipant’s family.
At this current Hme Bob and Shirly have already started corHcosteroid therapy and they have been bringing Billy to the local YMCA for swimming aNer work. They have a consultaHon set up with a physical therapist (PT) next week, but have not yet fully worked the logisHcs of balancing ge\ng Billy to PT weekly on top of their busy work, school, and Billy’s soccer pracHce schedules. They have also not decided if they are willing/financially able to hire a home aide on top of the PT.
3. Based on the new informa7on from Billy’s second follow up visit and reading of his gene7c tes7ng results revise your response regarding treatment op7ons. Be sure to include if you would or would not advise pursuing the experimental gene therapy in San Francisco and if you would scale back or more adamantly suggest the previous treatment op7ons. Your explana7on should be one paragraph in length (5 points).
New informa7on has been shared in a third follow up visit:
By this Hme a strong rapport has been developed between you the physician and the family. Bob and Shirley are now comfortable sharing some addiHonal informaHon about themselves and their personal lives that may factor into the decision-making process in selecHng the best management opHons for Billy.
Bob and Shirley are both working professionals. They immigrated from an under-resourced Asian country and are fluent English-speakers. They arrived in the Philadelphia with their newborn son, Billy, and only planned on staying in the United States for a few years to pursue economic opportuniHes specific to their professions. Originally, Bob and Shirley planned to stay in the United States unHl Billy turned 18 and graduated from an American high school to increase the probability that Billy would be admiPed into a 4-year American university. Bob and Shirley work long hours and has many professional demands. The family enjoys their Hme in the United States, but they miss extended family, culture, and community back in their country of origin. Their feel more isolated now that Billy was diagnosed with DMD.
The DMD management opHons outlined in Table 1 are all FDA approved, tested by evidence-based science, and readily available in the United States. Bob and Shirley understand the severity of Billy’s disease and have reached out to their support system (friends and family) in their naHve country for guidance. Their parents and siblings in their naHve country stressed religious and spiritual doctrine, which stresses the importance of being in close proximity to family during difficult Hmes and at the end of one’s life. The family feels that the burden put on Bob and Shirley would be alleviated if they move back home.
As parents, Bob and Shirley want to do what is best for Billy and provide a high quality of life for his remaining years, knowing that DMD is a terminal illness and Billy will eventually succumb to the disease. The specific medicaHons and therapies currently available in the United States are not available in Bob and Shirly’s home country due to limited accesses to health care and resources.
Bob and Shirley understand that Billy will likely die regardless of the management decisions made at this Hme, but funcHonal deterioraHon would be expedited if they elect to go home for the emoHonal support and their family and community can provide.
4. Considering the new personal informa7on Bob and Shirley shared, what would you advise them to do regarding Billy’s DMD treatment? Jus7fy your response. Your explana7on should be one paragraph in length (5 points).
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