OCS+BLF--March-15  donate_button

female carrier and son affected

10th December 2014

My name is Sally Chiu, I am a Registered Nurse. My only son just diagnosed with X-linked ALD in Sep 2006. His name is Eric Chan. He is at home all the time and his father is looking after him fulltime. He has been noticed with hearing problem in July 2006 and vision problem in Aug 2006 and behavior problems too-talking to himself, strange facial expression. At first, I thought he has pschological or autistic problem. He also very withdrawsl from his normal activity. Then I noticed his problem with walking down the stairs and he could not stand on one leg or walked in a straight line. I sent him to emergency of BCCH on Sep 3/06 and after CT scan, the doctor told me Eric has leukodystrophy, abnormality of his white matter of the brain. Then he was admitted and did a lot of tests, MRI and blood for very long chain fatty acid confirmed the diagnosis of X-linked ALD. My daughter, is 19 and has confirmed to be a female carrier recently. I, myself, experiences symptoms of weakness of legs, trip and fall easily, numbness of arms and legs during sleep, twitching of leg uncontrollable esp at night. Painful legs after an 8 hours shift. I am extremely depressed now and I don’t know how long will be son lives. He is now deteriorating. He could not see and his fine motor worsen, he walks with ataxic gait and I or his father has to follow him when he walks. He is now trying high dose of methylprednisolone and cyclophasphamide every month for 3 months. Then will do an MRI on him. He has just finished the 2nd treatment. He just turned into 11 years old Nov 6 06.


Thank you for your support! ...

We played a Mixed game against LSE today and had a 6-10 loss in a very well fought and fun match! Thank you LSE for being great opponents today! Also, as in the photos, we have all painted our faces the colours of Rare Disease Day which is upcoming on the 28th to show support for ALD Life, the charity who help patients and families of Adrenoleukodystrophy and Adrenomyeloneuropathy. Please help us to provide better awareness and find better treatments. You can help by raising awareness and taking part or donating by texting 'ALDL18 £5' to 70070. Or you can donate on Just Giving here - www.justgiving.com/campaigns/charity/aldlife/rarediseaseday2018 We want anyone and everyone to paint their faces and pass it along! Man of the Match: Aidan Women of the Match: Sarah, Pip, Jess, Amy #LUSL #Ultimate #Ultimatefrisbee #Outdoors #Outdoormixed #Rarediseaseday #warpaint #blueandwhitearmy #Stmarys #simmies #LSE #Beavers #Ostrich #HalfMatchMan #Substitutionsmatter

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