My son who has Lowe Syndrome, a letter from a mother

Just a few lines about my son Conor, 13 years, who’s got Lowes Syndrome (L.S). L.S is a metabolic genetic disorder that mainly affects the eyes, kidneys and brain. There’s lots of other things associated with L.S, including epilepsy, severe behaviour problems, learning difficulties, chronic constipation, arthritis, and dental problems. Unfortunately, Conor has an extreme dose of L.S. He is totally blind now (having had more than ten operations on his eyes – cataracts, glaucoma, corneal transplants, removal of left eye).

 

Conor has Fanconi Syndrome (this is the part of L.S that affects the kidneys). This is what concerns me the most as a lot of boys with L.S have renal failure. Conor’s kidneys are carefully monitored and so far things are going well apart from having to take over 200ml of different medications every day. Some days Conor does not want to take them!

 

Conor has severe learning difficulties and behavioural problems which can be very challenging at times, like biting himself and others; and lots of screaming. Conor can be very unco-operative and stubborn but we don’t know if this because of L.S or a family trait!!!

Conor has problems with his mobility. He can’t stand unaided and he uses a wheelchair. He is beginning to use a little walker and is doing so well (he even had a little dance at his 13 th birthday party). He has had a lot of problems with his joints and he has had two fractures in his legs.

 

Conor has had a terrible time with constipation since birth resulting in him having weekly enemas. This is the most terrible thing to witness every week. It is so painful. Conor has had epilepsy as a baby and has had two major seizures in the last couple of years that have scared the life out of me.

 

As you can see, Conor has been through a lot and God knows what the future holds. But Conor is a great boy who is very happy when he is healthy and has not got any pains. He’s got a great sense of humour. He loves listening to music and swimming at school. He loves going to school (he goes to the best school ever – The West of England in Exeter ). The staff work so well and he is really progressing well. I am so proud of him.

 

Conor has had many ups and downs but he has had great experiences, lots of happy times and he has lots of lovely friends everywhere. L.S is passed from a mother to a son. A male has a 1 in 2 chance of getting it from a mother who is a carrier and females have a 1 in 2 chance of being carriers. I have got two little girls aged 4 and 5 and I hope they are not carriers (I will get them tested when they are older). It would really break my heart if they were carriers. We need to do so much research into L.S for the future of all theses children both male and female.

 I am so excited that Lorraine Thomas has set up L.S Trust UK and is doing so much work to fundraise to set up research projects. 

When a child is diagnosed with L.S, there are so many worries/questions. Only with more research can we get the answers.