An image of a chromosome. A mutated X chromosome can be the cause of Lowe's Syndrome

A peek at the Living With Lowe's websiteLowe’s Syndrome is a medical condition that few people know about but affects a number of people across the UK. Inherited genetically, Lowe’s Syndrome was initally described by the doctors Lowe, Terrey and MacLachlan back in 1952. The disorder stems from a mutation in the Xq26.1 gene which is found in a person’s X chromosome.  This means that men are more likely than women to suffer from the disorder due to the way we inherit our genes from our parents. As a male has an X and a Y chromosome, a mutated chromosome is more likely to present symptoms due to the lack of another X chromosome.

Lowe’s Syndrome has some major health complication which can make life hard for someone with the condition. Cataracts are a common symptom which cause the lens of the eye to become cloudy and opaque. This means that light can’t make it to the retina impairing your vision. Another problem with the eyes of Lowe’s sufferers is Glaucoma. The eye has a specific pressure at which it works best. Glaucoma, also know as ocular hypertension,   is when this pressure is higher than what it should be and this causes damage to the optic nerve reducing sight.

An image of a chromosome. A mutated X chromosome can be the cause of Lowe's SyndromePaul James, 30, is a resident of Consett and life long sufferer of Lowe’s Syndrome who has chronicled his experiences of living with Lowe’s Syndrome. Having the disorder from birth, Paul has tried to put the struggle behind him and spread the word that you can live a normal life with Lowe’s. His website, livingwithlowes.com, is a fantastic resource for anyone wanting to learn more about the condition. Along with raising awareness about Lowe’s Syndrome, Paul’s website also highlights how he lives a normal life and also the effort he has put in to raise money for numerous Lowe’s Syndrome charities. This story highlights the fact that no matter who you are or how you were bron, you can always try to live your life to the fullest.

 

You can find out more about Lowe’s Syndrome by checking out Paul’s website livingwithlowes.com where you can find out more about the sydrome itself along with Paul’s charity work and achievements.

 


Get CONSETT MAGAZINE straight to your inbox.

* indicates required

2 COMMENTS

  1. Dear editorial staff,

    we find good that you report about such a rare illness. In Germany we have founded the charitable association Lowe syndrome to provide the affected assistance and support. Moreover, we try to promote a research project to the Lowe syndrome, in addition donation money is required. We can realise this only with support of the public and in addition one needs the media. Surely many thanks for the interest in this subject.
    Yours sincerely Marion Arnold / presiding charitable association Lowe syndrome Dresden – Germany

LEAVE A REPLY