Our son, Aidan Jack Seeger, was diagnosed with ALD (adrenoleukodystrophy) on June 2, 2011; he was just 6 years old. ALD is a horrific metabolic disease, which affects the myelin sheath in the brain and affects all neurological functioning, eventually leading to death. Aidan was in 1st grade, above grade level and running and playing as any other child his age. He started having vision problems around April and we just assumed he needed glasses. After many doctors and finally an MRI and VLCFA blood test, Aidan was diagnosed with ALD. The only option to possibly stop the progression of the disease is a bone marrow transplant. Aidan received his unrelated cord blood transplant at Duke University in North Carolina on July 21, 2011, also his 7th birthday. The months that followed were grueling, the bone marrow transplant was a success, but unfortunately, since he was already symptomatic and with the effects of the chemotherapy and the disease progression, Aidan lost his ability to see, hear, eat, walk and communicate. After 10 months in the hospital, our baby lost his life on April 29, 2012. If New York and the rest of the nation had newborn screening for ALD, Aidan and so many other children’s prognosis would be different. We have witnessed the miracles of children who have undergone bone marrow transplant before the onset of symptoms and are perfectly healthy today. There will be 225 children born with ALD every year in this country, most will not be diagnosed until they are symptomatic and it is too late. There is currently a newborn screening test available which is effective and is the only way to allow parents to know about their child’s condition and to monitor them successfully. Since there is no cure this is the only way to save these children’s lives until a cure is found. Please sign our online petition and write your local legislature to add newborn screening for ALD.
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Adrenoleukodystrophy (ALD, also called Siemerling-Creutzfeldt Disease or Addison-Schilder’s disease) is a rare, inherited disorder that leads to progressive brain damage, failure of the adrenal glands and eventually death. ALD is a disease in a group of genetic disorders called leukodystrophies, whose chief feature is damage to myelin. In adrenoleukodystrophy, over-accumulation of VLCFAs leads to damage to the brain, adrenal gland, and peripheral nervous system on the age of onset of the disease. The classical, severe type is the childhood cerebral form which, as an X-linked disease, affects primarily males. Symptoms normally start between the ages of 4 and 10 and include loss of previously acquired neurologic abilities, seizures, ataxia, Addison’s disease, and degeneration of visual and auditory function. It has been seen that infants that have been positively diagnosed by the age of 1 year old have usually become very ill by the age of 1 to 12 years and die soon after. This severe form of the disease was first described by Ernst Siemerling and Hans Gerhard Creutzfeldt. A similar form can also occur in adolescents and very rarely in adults. Addison’s disease can be an initial symptom of ALD, and many pediatric endocrinologists will measure very long chain free fatty acids in newly diagnosed males with this condition, as a screening test for ALD.
In another form of ALD, one that primarily strikes young men, the spinal cord dysfunction is more prominent and is therefore called adrenomyeloneuropathy, or “AMN.” The patients usually present with weakness and numbness of the limbs. Most victims of this form are also males, although some female carriers exhibit symptoms of AMN.
Adult and nonfatal forms of the disease also exist but they are extremely rare. (These tend to affect both males and females and be inherited in an autosomal recessive manner.) Some patients may present with sole findings of adrenal insufficiency.
Childhood cerebral type is characterized by:
- Changes in muscle tone, especially muscle spasms and spasticity
- Crossed eyes
- Decreased understanding of verbal communication
- Deterioration of handwriting
- Difficulty at school
- Difficulty understanding spoken material
- Hearing loss
- Worsening nervous system deterioration
- Lack of brain-to-body coordination
- Loss of control and temper in outbreaks (random abrupt berserk behavior)
- Decreased fine motor control
- Swallowing difficulties
- Visual impairment (Blindness)