This is Herbie,sami purchased this adorable van for her equally adorable son Kyle, but it needs adapted.kyle has PMD and as far as we know is the only child in scotland to be diagnosed he can sometimes be in a lot of pain and has received surgery to his hip this requires him to be out his chair every 2 hours so planning trips is a nightmare for Sami, and kyle just loves to be out and about. we strive to give him the best life possible and we would do anyhthing for him
We are always looking for ways to raise money for Kyle so he can have as normal a life as we his family can give him.
A great explanation of PMD:
"PMD is a very rare genetic disease, with less than 1,000 diagnosed cases worldwide. It's named for two German physicians who did early research, Dr. Pelizaeus and Dr. Merzbacher. PMD is an X-linked Leukodystrophy, carried by mothers and passed to their sons. Since females have two X chromosomes, when there is a problem with one, the other generally compensates, so carriers are not usually affected. Each son born to these mothers has a 50/50 chance of having PMD, each daughter has a 50/50 chance of being a carrier. If a male does not have PMD he cannot pass this disease on to his chidren. PMD affects the body's ability to produce or maintain the myelin that insulates the nerves of the central nervous system. Nerves are similar to wires, myelin is like the insulation that covers them. In males with PMD there is an inborn error that doesn't allow the myelin to form properly. If the myelin is missing the impulses cannot reach their proper destination. Unlike some leukodystrophies, PMD is not a demyelinating disease where normal myelin is destroyed, but a dysmyelinating disease where proper myelin is never formed.
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. This is why many 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 wheezing breathing called stridor. The next symptom is generally a failure to gain normal head and trunk control. PMD children do not gain weight or grow normally, although they seem to take in adequate calories. They also seem to be more susceptible to infections.
In the most severe cases males never develop any physical or self help skills, they are unable to sit without support, feed themselves, or talk. However, they do seem to understand words and concepts even though they are unable to speak.
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