Harvey has an extremely rare condition that effects his processing abilities due to no fault of his own. It is an unpleasant condition that effects a specific NXK2 Gene within the body. Harvey was born with only half a thyroid, his thyroid levels have never been normal. In addition to this Harvey all other Symptoms of Brain Lung and Thyroid symptoms which effects his daily life.
Harvey has a fantastic sense of humor and a great way of understanding the world around him. To the eye he is just like you, however only some of his daily symptoms are;
Legs giving way with no warning.
Poor dentition (had to have all his teeth removed, not due to poor diet or under teeth brushing) but due to the nature of the BLT Syndrome.
Ataxia (full body has involuntary movements)
Hyperthyroidism (Was born with half a Thyroid and all of the problems associated with this alone)
Heart murmur at birth
Poor hearing (second set of Gromit's fitted)
Very poor processing, if you ask something of him he takes at least 6 seconds in order to process the question then another 6 seconds to process his response.
Poor Sleep including pain from falls during the day after being mobile.
I have always said within his previous school setting that we were lead to believe he had a fully qualified Teaching assistant on a one to one basis throughout his school day as outlined in his Educational and Health Care Plan (EHCP). This person was meant to be there to assist with all Harvey's needs and wants, gross and fine motor skills alongside any educational support, keeping his Processing Disability in mind at all times.
The desire he has to learn is incredible yet the ability in order to do so is deeply effected by this horrible condition and the lack of support that Harvey had received at his previous School. Following this Harvey has now moved his educational setting which is a big move for home but the change in him in the last 5 weeks is already showing for the better.
Unfortunately, due to the failure that Harvey's previous school has endured on Harvey, he is now at an educational reading ability age of a 4 year old at age 9. This is a major barrier for his ability to be able to access the rest of the curriculum.
He has all medical professions support that he requires, however he is also diagnosed as having a learning disability which is also against him as just adds to the list of hurdles.
Not that he lets them get in the way of his social life but to secure his future so he has the ability to lead a normal life to the best of any of our abilities, he requires additional educational tutoring that has to be done outside of school. This is to help him on a one to one catch up basis and the monies I am asking for is to support the increase of what he is currently receiving self funded to the recommended two sessions a week.
This time in Harvey's life is vital in setting in Life skills for the rest of Harvey's Life. He is such an easy going and happy chap despite the pain and disabilities that he is faced with. No two hours are the same for him.
I ask for your help, please.
I have added some information on Brain Lung and Thyroid Syndrome but it is that rare, there isn't a great deal of information currently on the condition.
Brain-lung-thyroid syndrome is a rare movement disorder that begins in infancy with neurological disturbances, hypothyroidism, and respiratory problems.[1][2][3] It is characterized by low muscle tone (hypotonia) which evolves into benign hereditary chorea and ataxia, neonatal respiratory distress syndrome and/or interstitial lung disease, and congenital hypothyroidism.[1][2][3][4] The scope and severity of symptoms varies widely, even within families.[1][2] Treatment may include tetrabenazine and levodopa for chorea and thyroid replacement therapy for hypothyroidism. Respiratory distress symptoms and interstitial lung disease should be treated as needed.[2] Brain-lung-thyroid syndrome is caused by mutations in the NKX2-1 gene. It is passed through families in an autosomal dominant fashion.[1][2][3]
Unfortunately, I am the dominants Gene and also live with this horrible condition myself. Luckily as it is a 50% chase of sharing the mutation, Harvey's Sister does not have the condition but is currently undergoing gene testing incase she is a carrier as this would effect her ability to have children if desired later in life. The Genealogist have also said that if Harvey were to have children when he is older they would have to design a test for any fetus as he is a dominant gene carrier for this mutation.
Please help where you can.