Sources

Works Cited (includes both articles & pictures)

Percy, MD, Alan K, and Ronald Wanders, PhD. "Adrenoleukodystrophy." UpToDate Inc.. UpToDate Inc., 12 Oct. 2011. Web. 10 Apr. 2012. <http://www.uptodate.com/contents/adrenoleukodystrophy?view=print>.

"NINDS Adrenoleukodystrophy Information Page." National Institute of Neurological Disorders and Stroke. National Institute of Neurological Disorders and Stroke, 18 Mar. 2009. Web. 11 Apr. 2012. <http://www.ninds.nih.gov/disorders/adrenoleukodystrophy/adrenoleukodystrophy.htm>.

Arnaudo, Anna. "The Human and Scientific Story of Adrenoleukodystrophy." Welcome to Serendip's Exchange!. Serendip, 3 Jan. 2008. Web. 11 Apr. 2012. <http://serendip.brynmawr.edu/exchange/node/1691>.

Engelen, M.D., Marc, and Stephan Kemp, Ph.D. "Facts on X-ALD." X-linked Adrenoleukodystrophy Database. Netherlands X-ALD Patient Organization, 24 Jan. 2012. Web. 11 Apr. 2012. <http://www.x-ald.nl/clinical-daignosis/facts-on-x-linked-adrenoleukodystrophy/>.

"Genetic Counselors." Genetic Science Learning Center. The University of Utah, 2012. Web. 14 Apr. 2012. <http://learn.genetics.utah.edu/content/disorders/whataregd/counselors/>.

National Society of Genetic Counselors. National Society of Genetic Counselors, n.d. Web. 14 Apr. 2012. <http://www.nsgc.org/Home/CareerCenter/tabid/268/Default.aspx>.

"Become a Genetic Counselor." National Society of Genetic Counselors. National Society of Genetic Counselors, 13 Oct. 2011. Web. 14 Apr. 2012. <http://www.nsgc.org/Portals/0/Revised%20Recruitment%20Brochure.pdf>.

Sanborn, David. "My Life With Adrenoleukodystrophy." Dave's Homepage. N.p., n.d. Web. 15 Apr. 2012. <http://frank.mtsu.edu/~jsanborn/dslwl.htm>.

 Harrison, Karen. "A Day in the Life Living with Adrenoleukodystrophy." Regulars Day in the Life. The Biochemical Society, June 2008. Web. 15 Apr. 2012. <http://www.biochemist.org/bio/03003/0030/030030030.pdf>.

Diagram of an animal cell. A Diverse Selection of Organelle Probes-Section 12.1. Web. 20 Apr. 2012. <http://www.invitrogen.com/site/us/en/home/References/Molecular-Probes-The-Handbook/Probes-for-Organelles/A-Diverse-Selection-of-Organelle-Probes.html>.

X-linked recessive, carrier mother. U.S. National Library of Medicine. X-linked recessive inheritance. Web. 21 Apr. 2012. <http://en.wikipedia.org/wiki/X-linked_recessive_inheritance>.

X-linked recessive, affected father. U.S. National Library of Medicine. Patterns of Inheritance. Web. 21 Apr. 2012. <http://www.web-books.com/eLibrary/Medicine/Appendix/Inheritance.htm>.

The Myelin Project Announces $300,000 Challenge Grant to Spur New Research Into Adrenomyeloneuropathy (AMN). Web. 21 Apr. 2012. <http://rareproject.org/2009/05/20/the-myelin-project-announces-300000-challenge-grant-to-spur-new-research-into-adrenomyeloneuropathy-amn/>.

The Blue Ribbon Sisterhood. The Blue Ribbon Sisterhood. Web. 21 Apr. 2012. <http://www.aldsupport.org/group/the-blue-ribbon-sisterhood>.

Custom Ribbon: X-Linked/Adrenoleukodystrophy. Support Our Ribbons. Web. 21 Apr. 2012. <http://www.supportourribbons.com/custom-ribbon-magnet-sticker/24339/X-Linked+++Adrenoleukodystrophy>.

Lorenzo's Oil. 1993. Lorenzo's Oil. Web. 22 Apr. 2012. <http://www.teachwithmovies.org/guides/lorenzos-oil.html>.

Countdown to Transplant. University of Minnesota. The BMT Journey. Web. 22 Apr. 2012. <http://bmt.umn.edu/the-bmt-journey/Countdown-to-Transplant.php>.

Adrenoleukodystrophy-MRI. 2009. Sumer's Radiology Site. Web. 22 Apr. 2012. <http://sumerdoc.blogspot.com/2009/11/adrenoleukodystrophy-mri.html>.

Pray for Nathan Dorje. Web. 22 Apr. 2012. <http://www.prayfornathan.org/news.php>.

Huggins, Amy. Five year old Dalton has ALD his parnets are basically watching their little baby die slowly. prayer-for-cancer-patients.com. Web. 22 Apr. 2012. <http://www.prayer-for-cancer-patients.com/five-year-old-dalton-has-ald-his-parnets-are-basically-wathching-their-little-baby-die-slowly.html>.

Golden, Phil. Phil's son: Brooks. 2010. The Outdoor Princess. Web. 22 Apr. 2012. <http://theoutdoorprincess.com/tag/guest-author/>.

Sisson, Paul. Sawyer Sherwood died in 2003 at age 8 from adrenoleukodystrophy, a disease highlighted in the movie "Lorenzo's Oil". 2008. VISTA: Breweries help in fight against deadly disease. Web. 22 Apr. 2012. <http://www.nctimes.com/news/local/vista/article_8f5e94e4-a17f-5580-90d1-d9ff5b2d998b.html>.

My Life With Adrenoleukodystrophy . Web. 21 Apr. 2012. <http://frank.mtsu.edu/~jsanborn/dslwl.htm>.

Created using MLA Citation Maker on www.oslis.org.

Genetic Counselors

Genetic counselors are health professionals skilled at familiarizing, informing, and assisting families to understand genetic disorders. Genetic counselors may also refer individuals and their families to local services that can better inform or educate them  about specific diseases. The basic prerequisites to be completed prior to becoming a genetic counselor include:

• ·         getting a bachelor’s degree in biological or social sciences, or other applicable subject
• ·         Graduate Record Exam (GRE)
• ·         letters of recommendation
• ·         account of academic and career goals
• ·         advocacy and/or internship experience

Genetic counselors have knowledge of medical genetics and counseling, and make professional-level earnings.

To find a genetic counselor in your area to address adrenoleukodystrophy or other genetic disorders, visit: http://www.nsgc.org/FindaGeneticCounselor/tabid/64/Default.aspx

Support Networks

• ·         http://www.aldsupport.org is a blog-type website where families with loved ones affected by ALD can have a support system with others in a similar situation. Here, people can hold discussions about supporting one another, find updates on research of the disease, and write about their personal experiences.
• ·         http://www.aldfoundation.org/ is a website that provides educational material about ALD, allows for donations to be made to fund research for finding a cure, and lets users post blogs and memorials.
• ·         http://www.myelin.org/ provides the encouraging story of the Odone family who created Lorenzo’s Oil, and what is being done to find a cure for ALD.

Daily Life

The quality of life for adrenoleukodystrophy victims is poor. One patient said he felt like he “was dying piece by piece, a little more each day”. This same man lost his vision, which meant he could no longer enjoy his favorite hobby - reading. He now lives with a professional care provider that prepares his food, takes him on walks in his wheelchair, takes him to do errands, and assists him with stretching and speech exercises on a regular basis.

One woman watched her child with ALD decline at an alarming rate to the point that he was wheelchair-bound and being fed through a tube in his stomach. The little boy had severe muscle spasms and persistent vomiting to the point he could hardly keep his food down. His mother said that he eventually reached a point that he was “in a vegetative state”, because he was blind, deaf, unable to speak, and unable to move any part of his body.

Many ALD patients need full-time care providers.

Lorenzo's Oil

Michaela and Augusto Odone are probably among the most dedicated parents in history. When their son Lorenzo was diagnosed with Childhood Cerebral X-linked adrenoleukodystrophy at age five, they decided to investigate and publicize a condition that had to date been more or less ignored.  The Odone’s first attempted to cure their son by feeding him a diet with low concentrations of VLCFA. This proved unsuccessful, because Lorenzo’s body continued to produce VLCFA. His parents then concluded that preventing the synthesis of VLCFA was the only way to stop the demyelinization process.  The Odones found  a scientific paper which stated VLCFA levels decrease when there is an increase in the level of the short chain unsaturated fatty acid (SCFA) oleic acid because they both compete to use the same enzyme. The Odones then created what has become known as Lorenzo’s Oil, a mixture of oleic acid and euric acid (another SCFA).

Studies have found that Lorenzo’s Oil is best used as a preventative method because if it is given to a child prior to symptom onset, the symptoms are significantly lessened or resolved completely. Unfortunately, if the mixture is administered once the disease symptoms are present, it isn’t capable of remyelinating damaged nerve cells.

The Odones founded the Myelin Project with the intention of speeding up the cure for myelin regeneration. This organization funds research, allows researchers worldwide to confer about their progress towards remyelination, and permits scientists to interact with people affected by demyelinating diseases.

A movie entitled “Lorenzo’s Oil” was made in 1993, explaining the determination of the Odone family to find a cure for ALD.

Prognosis and Treatment

The prognosis for X-ALD is extremely grim. Most patients with this genetic disease die within 1 to 10 years of the onset of symptoms. Those with Childhood Cerebral ALD typically die between the ages of 5 to 20 years. AMN sufferers can possibly have a normal life expectancy unless they develop symptoms of cerebral demyelination.

There is currently no cure for adrenoleukodystrophy. Patients with Addison’s disease must take potentially life-saving adrenal steroid replacement therapy, although it doesn’t affect the progression of neurological symptoms. In a small study of young, pre-symptomatic patients with early signs of cerebral demyelination, hematopoietic stem cell transplantation (HSCT) proved to be successful in halting the progression of adrenoleukodystrophy. Lorenzo’s Oil is likely the most well known treatment method for ALD, but it only lowers the levels of VLCFA and does not stop the progression of symptoms once they begin. The medication Lovastatin may also lower VLCFA levels, but its use in different experiments with ALD patients demonstrates conflicting results.

Gene therapy successfully treated two 7-year old boys who displayed premature signs of cerebral ALD at Saint Vincent de Paul Hospital in Paris, France, stopping further development of the disease after a period of 14-16 months. Physical therapy, psychological support, and special education are a few symptomatic and supportive treatments available for ALD patients. Although it risks the chance of death, boys with Childhood Cerebral ALD in its early stages can potentially benefit from bone marrow transplants; this treatment is not recommended for those with the adult-onset form of this disease or for those who already have severe symptoms.

Scientists and researchers, in cooperation with volunteers at the Myelin Project, have made great research strides toward finding a cure for adrenoleukodystrophy and similar disorders. Remyelination of the human central nervous system is coming within reach and may be accomplished in our lifetime.

This little boy lost his fight with ALD at the age of 8.

Diagnosis

X-ALD and AMN are both diagnosed through a simple blood test to determine the quantity of VLCFA in the sample. A high blood level of VLCFA combined with typical disease symptoms confirms the diagnosis in males, although a false negative result (i.e., a normal VLCFA blood level) occurs in about 20% of women who are proven carriers of the disease. A DNA-based blood test can also be performed to precisely identify carriers through genetic testing. Other forms of testing include: diagnostic testing, carrier screening, and prenatal diagnosis. The Kennedy Krieger Institute has created a newborn screening system to detect abnormally high levels of VLCFA from small amounts of blood. This technique is currently being performed on a larger sample to see whether this test is accurate enough to potentially be used as a newborn screening method for X-ALD.