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• Copper Histidine: 2ml daily via injections to try to slow down deterioration
• Omeprazole: 15mg dissolved in 15ml of water 2x daily to prevent reflux
• Baclofen: 10ml 2x daily and 5ml 2x daily to relax muscles
• Trimethoprim: 2.4ml daily to stop nasty bugs forming in bladder
• Oxybutinin: 2ml 3x daily to stop from having bladder spasms caused by my catheter
• Diazepam: Up to 2 tubes rectally
• Keppra: 1.4ml 2x daily to act as an anti-epileptic
• Flixonase: 1 squirt up each nostril daily to help breathe more easily through the nose
• Sytron: 1ml every other day to give more vitamins
• Metoclopramide: 1ml to try and stop from vomiting
• Paracetamol suppositories : 360mg when needed for pain
• Glycerol suppositories: to help go to the bathroom
• Morphine sulphate: 2ml when needed for really bad pain
• Buccal Midazolam: 0.25ml when needed for when muscle spasms really hurt
• Hyoscinebutylbromide (Buscapan): 0.25ml when needed for stomach spasms
• Salbutamol Inhaler: 2 puffs when needed to open airways.
• Peptisorb : 800ml daily over a 20 hours
“It’s been rough trying to care for little Jeffrey. I know I should be around him more so I will not miss the last time he smiles or gives me eye contact. It hurts so much that he has gotten to the point where he cannot hold my hand anymore. Or when he does he flicks away because of the no control over the movements. I hate the fact that we have to work extra hard, Tom and I, so that we will have enough money to pay for everything. But I don’t mind because it’s going towards my son feeling better. I hate that we had to put a tube in his stomach because he cannot swallow safely anymore. I hate that he will not be able to go through the regular potty training. Ugh!! It’s not fair but I know that I am the right one to handle this. It brings tears to my eyes to see him getting osteoarthritis and then just the other day he passed a kidney stone. I could not stand the crying but I know he felt much better after that. I know with him being so young he should have to be at a standing frame to straighten out his spine since his curving a little bit each day. I know with hope it can only get better than this especially for little Jeffrey.”
Dr. Ed Harris a researcher at Texas Agriculture Experiment Station said Menkes disease could be handled with a gene therapy. Although the research is very basic they have agreed that the gene therapy would be linked to a functioning gene into a patient.
•Bone spurs
•Brittle, kinky hair
•Feeding difficulties
•Irritability
•Lack of muscle tone, floppiness (hypotonia)
•Low body temperature
•Pudgy, rosy cheeks
•Mental deterioration
•Seizures
•Skeletal changes
This is an X-linked recessive pattern. For a male it would be easier because to catch the disorder you would need to have both x chromosomes to be affected and since they only have 1 x their chances are higher. It is very unlikely for a female to have both affected chromosomes. The biological father cannot pass on x-linked traits to their male offspring. Most people with this disorder die within the first few years of life. There is a fifty percent chance.
•TheATP7A gene is the cause of this disorder. It provides instructions for a protein to regulate copper in the body.
•This gene is found in all parts of the body. This gene is found in Chromosome 21.
•What happens is that there is a defect in the gene and other mutations will occur, change the base pairs and prevent the ATP7A from doing its job. This will be called a frame shift mutation.
Treatment can only happen when the disease is found very early in life. Though treatments have included injecting copper into the vein and skin, it has had conflicting results. The only thing that doctors can do is give copper supplements. Most people die within the first few years of life.