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HUNTINGTONS DISEASE AND OTIS’S MOM
Huntington’s disease was identified in 1993 by a defective gene caused by the mutation in a gene located on the 4th chromosome. it was later named after George Huntington. The caused by the mutation in the gene the fact involves extra repeats of a specific normal HD gene That usually shares a chemical code of 17 to 20 repetitions with Huntington’s there can be gene codes up to as high as 3100. Huntington’s is a form of dementia this condition leads to progressive degeneration of nerve cells in the brain that affects movement cognitive and function and emotions. It’s a form of dementia because it has characteristics and symptoms of neuro degenerative disorders like Alzheimer’s and impairs your motor cognitive and gross motor skills of daily living. Huntington changes the central area of the brain that can be diagnosed as early as 30 to 40 years of age when adults Start to show signs and symptoms of Huntington’s disease. Huntington’s is hereditary from both parents not just one sex. Children have a 50% chance that they will inherit the gene from either their mother or father. People who are diagnosed with Huntington’s with no family history have a 1% to 3% chance of getting Huntington’s and passing it on to their children. Fewer than 200,000 cases a year are reported and treated and about 15,000 Americans currently have the disease. Usually after diagnosis, a person with Huntington’s may live 15 to 20 years until the end of their life. There is no cure for Huntington’s disease but there are medications to treat symptoms. The treatment medications are haloperidol, tetrabenazine, amantadine, fluoxetine and valproate. Most of these medications can increase depression and suicidal thoughts. Increased anxiety is also common so some doctors will prescribe an anxiety medication to help and offer psychotherapy. To diagnose Huntington’s disease after having an initial physician’s exam the patient will have a pet scan, CT scan, MRI and follow-ups. There are many different stages of Huntington’s disease here’s a list of some symptoms to lookout for.
· Can be managed but no cure
· it’s hereditary
· psychiatric disorders develop
· chorea occurs
· tremors
· contractions of the muscles and joints
· impaired gait or posture
· Speech difficulties
· swallowing problems
· dysgraphia social withdrawal and increased depression
· fatigue
· verbal outburst and irrational behaviors
· insomnia
· apathy
· suicidal thoughts
· prone to infections
· loss of words or understanding when speaking
Many patients with Huntington’s disease neurologically believe they’re in constant pain. Those with Huntington’s disease lose the sensation in parts of their brain that tell them if they truly have pain or if they are just emotionally distressed. Those patients become frustrated and have outburst that can last hours without even knowing why they’re yelling. It’s quite sad to think that one day you’re walking at the age of 25 living your life and then the doctor tells you, you have Huntington’s and you’re now lying-in bed helpless unable to take care of yourself by the age of 50 and just waiting to die.
There has been some research in new study shown that the opioid receptor MOR1 changes that with those with Huntington’s disease. The MOR1 is on the surface of the neurons. Opioids that are produced by these are those of taking pain relief like morphine. natural opioid is on our brains in a small molecule. This molecule is called Enkephalin and is produced by the same neurons that degenerate in Huntington’s disease. The MO R1 has shown to help with pain relief when levels are increased and when it’s too low this is when Huntington’s disease patients become drug seekers and have impulsive behaviors. This is because the MOR1 is produced in multiple isoforms. This can be read with a protein to match the same genetics just a slightly different variant. Brain images show degeneration of the striatum. That part of the brain controls behavioral actions. Is the striatum neurons weaken that identity protons are slowly diminishing. The MOR1 type opioid receptor becomes more abundant as the neurons degenerate. The striatum increases in MO R1 receptors with Huntington disease, and it compensates the below levels of Enkephalin. The MO R1 – positive striosomal neurons are high interest because the relate specifically to the dopamine producing neurons that are thought to degenerate with Parkinson’s patients. Parkinson’s and Huntington share similarities with symptoms. However, with Parkinson’s you lose dopamine and loss of movement and with Huntington’s disease it fluctuates up and down with excessive movement and inconsistent levels of dopamine.
I’ve had a patient for several years now that was diagnosed at the age of 45 with Huntington’s disease. We’re going to call her Otis mom. When Otis’s mom came to us she was walking talking enjoying her life and you would never know that she had just had this diagnosis three years prior to coming to us. She was about 50 when she was admitted to long term care. Before COVID Otis’s mom was on schedule with everything. From the time she got up in the morning she kept a daily log of her meals, medication, snacks, and when her husband came to visit with Otis. ( Her amazing yellow lab) Oh this is mom always knew what was going on she had a clear mind but most days her body didn’t want her to do what she wanted. During COVID I worked in Maine for two years and other facilities that we’re in crisis need. A year and a half ago I returned to this facility to be closer to home. I was blessed to return to the unit that Otis is mom lived on. Only to see that the person I knew a few years prior was not the same person that I was looking at. Within those almost three years oh this is mom no longer could walk, feed herself, bathe herself, and had multiple contractions in her bones to where she couldn’t extend her arms to pet Otis when he comes to visit her. The only control she had now was yelling for hours and being angry. With her increased suicidal thoughts and depression and her one worded sentence. She only thought about dying and moving forward to the next chapter. She hates being stuck in the life with this god-awful disease. Unfortunately, she inherited this from her mother and all four of her siblings also had Huntington’s disease and she is the left last one that’s still with us. We keep her comfortable as much as we can and try to make her feel like a young woman by getting her dressed up with jewelry in haircuts and fancy perfumes for when her husband comes to visit, but she never gets out of bed because it’s so painful for her mentally physically and emotionally. For the past six months she’s been struggling with non-stop infections to her toenail’s, fingernails, urethra, gallstones and bladder. For the past year she’s been eating the consistency of baby food but every day her husband brings her an ice coffee from Dunkin’ Donuts that makes her happy. As blessed as I am to get to spend her last days with her. I often wish that she would move on to her next chapter so she could find peace with all that’s happening.
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