A rare disease diagnosis is often shocking, and it means making life changes. An adrenoleukodystrophy (ALD) diagnosis is no exception. Because this condition typically impacts children, parents have to make changes to their lives as well. Adrenoleukodystrophy News is here to help this process and give advice and information on raising a child with ALD.
About Adrenoleukodystrophy (ALD)
Adrenoleukodystrophy is a rare disorder that damages the myelin sheath, which is the protective membrane of neurons. This damage is caused by the buildup of chains of fatty acids, which accumulate in the brain and adrenal gland. Males are mainly affected by this disorder, with an incidence of about one in every 18,000 births. The symptoms of this condition may differ depending on the type of ALD one has. Age of onset varies between these forms, but symptoms commonly begin between age four and ten. Typical effects include ADD, intellectual decline, Addison’s disease, aggressive behavior, a loss of hearing and vision, crossed eyes, muscle spasms, seizures, issues with swallowing, loss of muscle control, disability, and progressive dementia. Another form of ALD sees the onset between age 21 and 35, while the least common form affects females.
This condition is caused by a mutation on the ABCD 1 gene on the X chromosome. This gene results in the accumulation of fatty acid chains, which then causes the damage to neurons. Because this mutated gene is on the X chromosome, males are typically affected while females are carriers.
Raising a Child With ALD
There are a number of things that should constantly be kept in mind when raising a child with ALD to ensure that everyone is best prepared for the future. Firstly, parents should educate themselves on the condition itself, including the symptoms and progression. They should also be aware of treatment options. For example, a stem cell transplant is the standard of care, as it can prevent further damage to the body.
Parents should also be aware of any services or devices their children may need, such as wheelchairs, braces, or other adaptive devices. A medical alert device, whether that is a bracelet or a necklace, should also be worn in case of an emergency as many medical professionals are unaware of ALD.
In terms of education, it is important to give any and all information to a child’s school so that they are best equipped to handle any possibility. This includes medical information, treatments, side effects, and any medication that needs to be given during school hours. Special services may be necessary as well, such as an elevator or special education plan. Children with ALD may not be able to fully participate in classes, especially physical education, so talk to a physician about the best plan for school.
Raising a child with a rare disease can be scary and overwhelming, but there are resources available to help. It is also important to remember to take care of oneself, which caregivers can forget to do at times. Both parents and children should be at their healthiest and happiest.