| Adrenoleukodystrophy ALD INFO:
This is a horrible genetic desease. It is passed on by the X-chromosome
(X-ALD). MALES are the ones affected. Females are usually carriers. About 93% of cases have inherited the mutation from one parent; at most 7% of patients with X-ALD have de novo mutations. The risk to siblings depends upon the genetic status of the parents, which can be clarified by pedigree analysis, VLCFA measurement, and DNA-based testing. If the mother is a carrier, she has a 50% chance of transmitting the disease-causing mutation to each sib of the proband. Brothers of patients with X-ALD have a 50% risk of inheriting the mutant allele. Sisters of patients with X-ALD have a 50% risk of being carriers of the mutant allele. ALD affects boys and young men. In the childhood presentation, which is observed in 35% of ALD-positive individuals, it is usually diagnosed between the ages of four and ten years old. They generally have a history of learning disabilities and/or a behavior issue such as attention deficit disorder (ADD) or attention deficit hyperactivity disorder (ADHD) while in fact, insulating material in the boys' brains, the white matter (also known as myelin) is progressively being destroyed. This brings on difficulty at school, difficulty understanding verbal communication (aphasia), and deterioration of handwriting. Other early symptoms include, delayed neurological development, frequent respiratory infections, darkening of the skin color (increased skin pigmentation), crossed eyes (strabismus), hearing loss, headaches, and intermittent vomiting. As it progresses changes in muscle tone (deteriorating fine motor control), especially muscle spasms and spacticityasticity and possibly seizures, with eventual paralysis. The other major component of the childhood form and all other forms of adrenoleukodystrophy is the development of impaired adrenal gland function (similar to Addison disease). There is a deficiency of steroid hormones.The disease worsens over several years, and usually in less than two years from ALD diagnosis, the child will lose all cognitive, mental, and physical functions, and deteriorate into a vegetative state leading to death. Early diagnosis is mandatory for this desease to be treated. Treatments now being used are bone marrow transplant, stem cell transplant, and early use of Lorenzo's Oil. Diagnostic testing, carrier screening, and prenatal diagnosis are available through the laboratory of Dr. Hugo Moser at the Kennedy Krieger Institute in Baltimore, Maryland. Specific information concerning the experimental treatments are also available through Dr. Moser or the United Leukodystrophy Foundation. The best cure for this disease now is prevention. With the technology now available there is no reason this disease has to continue. If anybody in your family has lost a loved one to this disease please have the DNA testing done. This disease causes too many angles. | Sawyer Sherwood
Nov 16, 1994 to Sept 30, 2003 My nephew Sawyer Sherwood lived in Vista CA, and was going on 9 years old. At about the age of 8, he started showing symptoms. He seemed a normal happy child until then. It took about three months of testing before he was diagnosed with Arenoleukodystrophy (ALD) (or Lorenzo's Oil Disease). We had no idea what this was. In this picture below you see a happy, healthy boy. He had already been diagnosed, and was starting to show symptoms. This picture was taken in June 2003. In August 2003 I went to see him. He had since lost a lot of muscle control and understanding of verbal communication. He had lost most of his fine motor skills. He was losing his battle. For all those out there, please help the ALD foundation to find a cure so others do not have to go through this. As of late August Hospice was brought in to help with Sawyers needs and help the family cope. He had good days and bad. LATEST UPDATE: 9/15/2003
Sawyer started having these psychotic episodes and nothing we were doing, calmed him down. His episodes seem to be connected to things that he sees and then alters them in his mind. He thought he was being stung by bees one night and was in complete horror. He is also unable to use his legs now. LAST UPDATE: 9/30/2003
Sawyer lost his battle with Adrenoleukodystrophy on the evening of September 30, 2003.
We will miss him dearly. 
Sawyer Sherwood at a recent Wedding in June of 2003 with his sister Amanda.
Click here to see a link to an article in the North County Times article 2 The family went to Hawaii in July thanks to Make a Wish foundation and Sawyer loved playing in the warm water. |
