When a family gets the ALD diagnosis, they don’t know where to start.
We are where they start.
The Alexander Matthew Foundation exists to meet the needs of families navigating ALD. We grant scholarships to assist families in covering medical expenses related to ALD. We provide a support network for parents and siblings coping with the diagnosis and we tend to the emotional needs of families grieving in the aftermath of the disease.
In addition to financial and emotional support, we focus a great deal of our efforts on families who are adapting to life with ALD.
As the disease progresses, families have to learn new ways to interact with and care for their child. The Alexander Matthew foundation groups together parents who have similar needs. Together they interact and become better equip with the tools and skills they need to meet the needs of their child.
Advocacy and Research
Our efforts are focused on educating and providing better guidelines for those who have a direct impact with patients and families who have received the ALD diagnosis, in order to improve their quality of life.
Support research that will provide for better treatment and therapies to improve the livelihood and outcome of current treatment options.
Education
Need based scholarships support the post-secondary educational needs of ALD patients. Provide support for siblings pursuing advance degrees in areas that will impact the Rare Disease community.
With your support, we will be able to expand our trainings and our reach.
FAQ’s
What is ALD – Adrenoleukodystrophy
Adrenoleukodystrophy is an X-linked recessive genetic disorder caused by an abnormality in the ABCD1 gene on the X chromosome. This condition affects the white matter of the nervous system and the adrenal cortex. Some affected individuals have adrenal insufficiency, which means that reduced amounts of certain hormones such as adrenaline and cortisol are produced, leading to abnormalities in blood pressure, heart rate, sexual development and reproduction. Some of those affected experience serious neurological problems that can affect mental function and lead to disability and reduced life span. This condition has been categorized into six types based on symptoms and age of onset: childhood cerebral ALD, adolescent cerebral ALD, adrenomyeloneuropathy, adult cerebral ALD, adrenal insufficiency only and ALD that occurs in females.
What are symptoms of ALD
The childhood cerebral form of ALD usually begins between four and eight years of age and symptoms include attention deficit disorder, progressive loss of intellectual function, and vision, hearing and motor deterioration. Adolescent cerebral ALD begins between 11 and 21 years of age and the symptoms are similar to the childhood cerebral type, but the disease progresses more slowly. The adrenomyeloneuropathy type of ALD usually begins in the late twenties and is characterized by difficulty walking, a progressive weakness and stiffness in the legs (paraparesis), a loss in ability to coordinate muscle movements, excessive muscle tone (hypertonia), vision loss, difficulty speaking dysarthria), seizures and adrenal insufficiency. Adult cerebral ALD can begin between the twenties and fifties with symptoms like schizophrenia with dementia. Individuals with adrenal insufficiency only do not initially have neurological problems, but symptoms such as those seen in adrenomyeloneuropathy usually develop later. ALD in females usually begins later in life and symptoms can vary greatly from mild to severe, but usually do not include adrenal insufficiency.
How do you test for ALD?
The concentration of very long fatty acids (VLFA) in blood plasma is elevated in 99% of males with ALD and in approximately 85% of female carriers of the abnormal ABCD1 gene. Molecular testing for the ABCD1 gene is available and is used primarily to confirm a diagnosis if other testing is not conclusive, to provide genetic counseling to family members and for prenatal diagnosis. Adrenal function tests are abnormal in 90% of boys with ALD who have neurologic symptoms and in approximately 70% of men with adrenomyeloneuropathy.
How early can the test be performed?
Testing for the very long fatty acids (VLFA) can occur as early as birth. This can be done as part the of tests performed during newborn screening. ALD was added to the Recommended Uniform Screening Panel (RUSP) however, currently only a handful of states are including ALD as one the metabolic disorders they test for. We do promote, advocate and actively support all the efforts around all states testing for ALD as part of the newborn screening process. This provides a better way to monitor and determine which babies will need to have additional test.
Testing early provides these boys affected the best chance at a normal and healthy life as they can be monitored for demyelination. Early detection is essential when treating these types diseases.
What are the current treatment options?
The abnormal adrenal function is treated with corticosteroid replacement therapy. Bone marrow transplantation has been successful in individuals who are in the early stages of ALD.
Affected individuals can benefit from supportive care from psychologists, educators, physical therapists, urologists, and family and vocational counselors. Genetic counseling is recommended for affected individuals and their family members.
Additional research is currently underway to determine other treatment options. Research is underway with regards to the effectiveness of Lorenzo’s Oil. Also, research is being conducted to also test the use of Gene Therapy as a treatment option.