X-linked myotubular myopathy is a genetic, sex-linked muscle disease that weakens muscles associated with movement. Because the disease is associated with the X-chromosome, of which males have only one, the disease is much more likely to affect males than females. Females can develop the disease under certain, rare circumstances, such as when a female who carries the disorder develops symptoms later in life or if they display X-inactivation, when they will most likely display symptoms from birth. These can only happen when both copies (on both chromosomes) of the gene associated with X-linked myotubular myopathy are mutated.
In addition to muscle weakness, X-linked myotubular myopathy will also dramatically reduce muscle tone, which can cause issues with the development of motor skills and ability to walk, stand, sit, or even breathe. Over time, those with the condition can develop scoliosis and musculoskeletal deformities, but because of the breathing difficulties it presents, many of those who have full X-linked myotubular myopathy do not survive into adulthood.
The disease is diagnosed using muscle biopsy and physical examination for hypotonia, poor reflexes, and myopathy. The diagnosis can be confirmed through genetic testing. There is no direct cure for X-linked myotubular myopathy, and treatments address symptoms and comfort. To address breathing difficulties, a breathing tube can be inserted into the trachea (tracheostomy). A trachseostomy will also allow feeding and communication issues to be addressed. Those with the condition will likely require chairs and other devices to assist with movement as well. Scoliosis and other complications that arise from X-linked myotubular myopathy can be treated using braces, therapies or surgery.
In order to receive Social Security Disability benefits, you must be considered disabled by the Social Security Administration (SSA). This means your condition keeps you from working—if you are an adult—or prevents you from performing age appropriate tasks as a child. Your particular condition will be evaluated according to the Social Security Administration's guidebook of disabling conditions, the blue book, which contains separate sections for adults and children.
X-linked myotubular myopathy, which is not mentioned by name, is evaluated under section 1.02 (or 111.06 for children) of the blue book, Musculoskeletal System – Major Dysfunction of a Joint due to any Cause. The disease can also be evaluated under section 11.17A – Degenerative Disease not Listed Elsewhere. This requirement centers around significant disorganized motor function in two extremities, causing sustained disturbance of movement, gait, and station. A child may also qualify if they demonstrate frequent need for medical ventilation, supplemental oxygen, or tracheostomy, according to their height, which is listed in section 103.02 Respiratory System. Similarly, children may also qualify for benefits if they require supplemental daily feeding through a feeding tube.
Unfortunately, the Social Security Disability application process can be lengthy and you may wait a significant amount of time for a decision before receiving benefits. Those with certain conditions that are severe and aggressive may not be able to wait for these benefits. To address this, the SSA selected a list of several diseases that are eligible for an expedited evaluation process in order to pay benefits quickly to those who have such conditions. This program is called compassionate allowances. X-linked myotubular myopathy is one of several sex-linked genetic disease included on the list of conditions eligible for compassionate allowances. With compassionate allowances, you can expect to receive a decision within a month, provided it is clear you meet the minimum medical requirements.
The Application Process
Compassionate allowances are not a separate program from Social Security Disability benefit programs, so the application process is the same. You can start the application online or in person, but keep in mind that applications for children must be processed during an in person interview with a SSA representative.
Before beginning the application, make sure to gather all of the required documentation for whichever benefit program you choose, as well as objective medical information that might help your case. This should include records of hospitalization and treatments, definitive lab results, and also an official diagnosis.
If your application is denied, you may appeal the decision within 60 days before having to apply again. You must complete the appeal within 60 days of receiving the denial, or you will have to begin a new application. Even with a compassionate allowance condition, you must fully complete the application and include as much detail about the condition as possible in order to receive an approval. It may seem like a hassle at times, but pursuing Social Security disability benefits can be worth it for a family struggling with an X-linked myotubular myopathy diagnosis.