Living with and Treating PMD
PMD is present at birth, but because the brain is not fully myelinated at birth the signs may not become obvious until the child is a few weeks, to several months old. Thus, PMD children may seem normal at birth and may reach some of the milestones other infants do. The first symptom is usually an involuntary movement of the eyes called nystagmus, generally noticed between birth and six weeks of age. Some infants may also have loud wheezy breathing called stridor. The next symptom is generally a failure to gain normal head and trunk control. Also, even with adequate calories PMD children do not gain weight or grow normally. They also seem more susceptible to infections.
In less severe cases of PMD males speak in a slow drawn out manner. They may use a few simple words, phrases, or have an extensive vocabulary. They may sit with minimal support, maneuver a manual and/or electric wheelchair, feed themselves, handle a covered cup, and be toilet trained. In the most severe cases males never develop any real physical, or self help skills. They are unable to sit without total support, are unable to feed themselves, or talk. They do seem to understand words and concepts though. Because of their limited physical abilities many PMD males are labeled severely retarded, but parents and individuals close these children know that they understand much more than they can express. They are very amazing in their ability to use their limited and/or abnormal movements to do things that seem impossible for them. They are also more medically fragile. Life expectancy's seem to vary depending on how severely affected the individual is. Some patients live only a few months or years, while others may live into their sixties. There is no specific treatment for PMD, treatment is symptomatic. Thanks to advancements in medical care and medications everyone is living longer, so we cling to hope the same will be true for our PMD boys.
We will soon be adding information from our doctors (Pulmonary, GI, Palliative Care, etc.) about living with and treating the symptoms of PMD...
PMD is present at birth, but because the brain is not fully myelinated at birth the signs may not become obvious until the child is a few weeks, to several months old. Thus, PMD children may seem normal at birth and may reach some of the milestones other infants do. The first symptom is usually an involuntary movement of the eyes called nystagmus, generally noticed between birth and six weeks of age. Some infants may also have loud wheezy breathing called stridor. The next symptom is generally a failure to gain normal head and trunk control. Also, even with adequate calories PMD children do not gain weight or grow normally. They also seem more susceptible to infections.
In less severe cases of PMD males speak in a slow drawn out manner. They may use a few simple words, phrases, or have an extensive vocabulary. They may sit with minimal support, maneuver a manual and/or electric wheelchair, feed themselves, handle a covered cup, and be toilet trained. In the most severe cases males never develop any real physical, or self help skills. They are unable to sit without total support, are unable to feed themselves, or talk. They do seem to understand words and concepts though. Because of their limited physical abilities many PMD males are labeled severely retarded, but parents and individuals close these children know that they understand much more than they can express. They are very amazing in their ability to use their limited and/or abnormal movements to do things that seem impossible for them. They are also more medically fragile. Life expectancy's seem to vary depending on how severely affected the individual is. Some patients live only a few months or years, while others may live into their sixties. There is no specific treatment for PMD, treatment is symptomatic. Thanks to advancements in medical care and medications everyone is living longer, so we cling to hope the same will be true for our PMD boys.
We will soon be adding information from our doctors (Pulmonary, GI, Palliative Care, etc.) about living with and treating the symptoms of PMD...
