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.
Kellermann, A., & Peleg, K. (2013, May 29). The New England journal of medicine. Retrieved from http://www.nejm.org/doi/full/10.1056/NEJMp1305304
At birth, children with familial dysautonomia are diagnosed by a distinct set of symptoms. (FD Facts) Poor muscle tone and lack of tears are two symptoms that can be detected very early. As they get older they have a hard time maintaining body temperature, they hold their breath for long periods of time and have a delay in speech and walking. The cause of these symptoms is due to a defect IKBKAP gene. Someone with familial dysautonomia has two copies of IKBKAP in each cell, which means a mutation occurred. This mutation disrupts the information in the IKBKAP gene that helps the production of IKAP protein. The IKAP protein is used for brain functions but when the mutation occurs, not enough of the proteins are made for the brain to function properly...
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.
...rmeulen A, Kho TL; Anderson-Fabry's disease: alpha-galactosidase deficiency. Lancet. 2001 Jan 13;357(9250):138-40. Available at: http://www.ncbi.nlm.nih.gov/pubmed/11197415?dopt=Abstract Accessed 8th July 2010
In 1993 a consortium of researchers who worked on the DNA samples from families in the Lake Maracaibo region of Venezuela, an area with a high density of HD and significant consanguinity, reported the successful discovery of the gene responsible for the occurrence of this disease, present in chromosome 4 and named it as IT15 (Interesting transcript #15). IT15 later called as the Huntingtin gene (HTT) [2]. HTT is ~10 kilobases (kb) long and translated into a protein of 3144 amino acids with anticipated molecular mass of 348 kDa. Huntigtin protein is expressed in in human and all mammalian cells, where brain and testis has the highest concentration; liver...
Imagine that there is a cure for nearly every ailment that affects the human race. Imagine that you could help the terminally ill, put those you love out of pain, and cut the healing time of an enormous number of serious illnesses in half. Imagine a world in which pain and suffering would be nearly nonexistent, and the people you love can live safe from the fear of crippling injury. Now what if I told you that this utopia was a fast approaching reality? Everything from serious life threatening burns to lymphoma, AIDS, Alzheimer’s, Muscular Dystrophy, Parkinson’s Disease, Spinal Cord Injury, and Strokes could, in the very near future, be eliminated through the simple culturing and implementation of stem cell therapy . These diseases are no small component of the myriad of conditions that plagues the human race, and yet, the end for these horrible maladies could very well be in sight. Man has always sought to end suffering, largely without success, until now. the promise that stem cell therapy holds could completely change our world for the better. Already, stem cell therapy is being used to treat leukemia, immune disorders, hodgkins and non-hodgkins lymphoma, anemia and a profusion of other ailments. As you all know, this is no small accomplishment. One day i believe that we may look at alzheimer's and diabetes and other major illnesses much like we look at polio today, as a treatable illness. Right now, our research with stem cells is providing us with new light into how we look at and model disease, our ability to understand why we get sick and even to develop new drugs. In 2008, a researcher from the New York Stem Cell Foundation Laborato...
Lewis, Ricki, (2014), Human Genetics, 11th Edition, Chapter 12. Gene Mutation. [VitalSource Bookshelf Online]. Retrieved from
“Stem Cells: The Future of Medicine.” Medschool.umaryland.edu. University of Maryland School of Medicine Web 14 Nov 2013
The video, “Cracking the Genetic Code,” brought for forth some great interest in knowing that the medical field and technology has advanced so much that we can know our own genetic code and if we will or develop a certain disease. But aside from the interest, the video also brought forth some heartbreaking moments for the patients in the video that have had their lives turned around due to medical illness. For example, Megan Sullivan, who was a fully functional young woman and started showing symptoms of Huntington’s disease during her college years, which reduced her functioning to where she can barely even speak for the interview. It’s hard seeing somebody that young go through those huge obstacles, or in the case of Catherine Ellton, who, in a way, was forced to speed up her life in a
“What are the potential uses of human stem cells and the obstacles that must be overcome before these potential uses will be realized?” . InStem Cell Information. Bethesda, MD: National Institutes of Health, U.S. Department of Health and Human Services, 2009.
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.
This disease is characterized by autoantibodies against intrinsic factor producing cells in the stomach (atrophic gastritis). Intrinsic factor is an important molecule that binds to vitamin B12 in the stomach, allowing the vitamin B12/intrinsic factor complex to become absorbed in the small intestine. Other disorders associated with B12 deficiency include celiac disease and inflammatory bowel disease – this occurs as a result of malabsorption. Individuals that have undergone bowel resection of the stomach or small intestine (e.g., ileum) are also at increased risk.
2. (2012, 02). Phenylketonuria. Your Guide to Understanding Genetic Conditions. Retrieved 04, 2014, from http://ghr.nlm.nih.gov/condition/phenylketonuria
My future plans are to become a biomedical scientist. Biomedical scientists serve in all levels of health science research from basic science working with cell cultures to human clinical trials experimenting the most cutting-edge breakthroughs to maximize human quality of life. I am interesting in researching rare diseases. There are many rare diseases that affect small proportions of the population and unfortunately go unnoticed for reason. Unfortunately, usually it is because therapeutic agents for these diseases would have a much smaller market than therapeutics for common diseases. There is an immense need for research attention to ultimately improve clinical outcomes in patients of rare diseases because many are a lifelong chronic prognosis and are genetic and non-modifiable by lifestyle factors and are lacking of often absent of current treatment options. The government helps by socializing the solution by having money set aside by public National Institute of Health (NIH) to research ‘orphan diseases’. An example of one such program from the NIH is Orphan Products Natural History Grants Program.