Have you ever heard of a disorder, condition or disease for the first time wondering to yourself what it is? That was me 11 years ago when my baby girl was first diagnosed with Alpha-1 Antitrypsin Deficiency, at the young age of only four months old. My heart dropped when they told me the diagnosis even though I had no idea what it was, what is meant, or how it would change our lives. I had so many questions and even to this day, the questions still seem endless. I have spent countless hours researching and asking questions trying to fully understand what it all means. As I continue to hope and pray for a cure so my daughter can live a normal long healthy life. Although there is currently no cure for Alpha-1, recent discoveries in Stem Cell research offer hope that there could be one in the future.
Alpha-1 Antitrypsin Deficiency is a hereditary condition that is passed to children by their parents through genes. The condition may cause serious lung and liver disease in adults and liver disease in infants and children. Most alpha-1 antitrypsin is produced by the liver and when there is a severe lack of protein in the blood, Alpha-1 occurs. Alpha-1 antitrypsin protects the lungs from inflammation caused by infection and inhaled irritants. Alpha-1 antitrypsin cannot be released through the liver at a normal rate because it is abnormal. This causes low levels of Alpha-1 in the blood and build-up of Alpha-1 in the liver, which leads to liver disease in some individuals.
Alpha-1 Antitrypsin Deficiency is the most common potentially fatal genetic disorder of adult Caucasians in the U.S. The incidence of Alpha-1 Antitrypsin Deficiency is suspected to be between 1/2500 and 1/3000. (Alpha-1 Foundation.) Alpha-1 Antitrypsin Deficiency c...
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...ular level, Alpha-1 has become one of the best-understood genetic disorders. While many questions about the clinical disorder still remain a mystery. The Alpha-1 Foundation, The National Institutes of Health, liver disease experts and pulmonary experts are hard working to establish patient management, as well as clinical treatment guidelines for patients. With this and the new stem cell discoveries it leaves me with hope that a cure is just around the corner.
Works Cited
Alpha-1 Foundation. What is Alpha-1? Florida: Alpha-1 Foundation, version 1.7, 2012, Print.
Alpha-1 Association. Alpha-1 Antitrypsin Deficiency Healthcare Provider’s Guide. Florida: Alpha-1 Foundation, version 1.7, 2006, Print.
Alpha-1 Foundation. Alpha-1 researcher calls new stem cell findings ‘exciting, perplexing’. Florida: Alpha-1foundation.org, posted January 31, 2014, Print.
Imsub Monmessin, is a 22 year old student from Thailand who flew to America in order to go through gene therapy, in order to hopefully cure her inherited disorder of Beta Thalassemia. The therapy involved inserting a functional beta globin gene into a patient’s stem cells, which would alternate the cells outside of the body in order to reinsert the modified stem cells into the bloodstream, this is also known as “Autologous stem cell transplantation”. For the first 2 weeks, Imsub had to go through physical and other medical exams. Over 4 days, Imsub’s stem cells were collected and taken to a lab for another 5-6 weeks before getting her cells collected again for modification. In order to get the cells transplanted, Imsub was required to stay at the hospital for 40 days, 9 months in America with the therapy. As you see, there are a variety of therapies avaliable to prevent Beta thalassemia, despite how long processes may
to be taken to diagnose them. One of the first signs of Addison’s disease is a family history of
The main cause of Progeria is a genetic mutation. This disease stems from "a single-nucleotide substitution that leads to aberrant splicing of the LMNA, the gene that encodes for the A-type nuclear lamins."(Kudlow, Kennedy, and Monnat 398) This single-letter misspelling occurs on chromosome 1 of the gene, which codes for lamin A. A point mutation from cytosine to thymine ensues near the end of the LMNA gene, a discovery by the Collins Laboratory. Gly608Gly,the most common mutation, results in "one hundred and fifty nucleotides encoded in exon eleven to be spliced out of the final mRNA and results in a protein that lacks 50 amino acids." (Kudlow, Kennedy, and Monnat 399) Now that the mutation has taken place, the cells begin to synthesize abnormal lamin A proteins known as Progerin. Newly produced Progerin still have the attached farnesyl group engendering the Progerin to connect to the nuclear membrane permanently. Due to thi...
Williams, C. A., Angelman, H., Clayton-Smith, J., Driscoll, D. J., Hendrickson, J. E., Knoll, J., Magenis, R., Schinzel, A., Wagstaff, J., Whidden, E. M. & Zori, R. T. (1995). Angelman Syndrome: Consensus for Diagnostic Criteria. American Journal of Medical Genetics, 56, 237-238.
Millions of people die every year from diseases and accidents; the nightly news is filled with reports about the devastating effects of cancer, horrific accidents, and disasters that leave people disfigured or paralyzed. Embryonic stem cell research is a part of biomedical science and has the potential to ease the suffering of sick people by curing diseases and defects, creating organs and tissue for patients needing transplants or skin grafts, regenerating axons in spinal cord injuries, and creating new treatments, drugs, and immunizations. However, America’s government does not support this research to an extent that would make a difference in medicine; only a few stem cell lines are authorized, and federal funding is minimal. The government should support embryonic stem cell research by educating the public, increasing federal funds, and easing restrictions.
...s exist as an inherited disease in some families. The majority of case studies show that the patients affected have no family history of the disease.
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This chronic disease can be prevented, can be treated professionally at the very beginning of the process however, this disease cannot be cured. There are ...
Erickson, Quenby L., et al. "Addison's Disease: The Potentially Life-Threatening Tan." Cutis 66.1 (2000): 72-4. ProQuest.Web. 26 Jan. 2014.
In both the clinical experience and the class settings, we have learned how the process of DKA can be life threatening, the importance of following the recommended medical regimen, and the various food types. Financial constraints sometimes make it difficult for families and individuals with DM1to comply with the medical and dietary recommendations.
Alexandra M. Levine, MD. The Importance of Hope. West J Med: May 1989. The National Center for Biotechnology. Web. US National Library of Medicine. 25 Apr. 2014.
the case of rare blood diseases or a needed organ transplant, an adopted child knowing
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...apter 362. Glycogen Storage Diseases and Other Inherited Disorders of Carbohydrate Metabolism. In D.L. Longo, A.S. Fauci, D.L. Kasper, S.L. Hauser, J.L. Jameson, J. Loscalzo (Eds), Harrison's Principles of Internal Medicine, 18e. Retrieved January 21, 2012 from http://www.accessmedicine.com/content.aspx?aID=9144477.