#1
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Hi all,

I am a single mother of one very special little boy-if i do say so myself Smile

This is the short version lol;
The fun really began after he was born, he didnt have an easy delivery and had been very active in the womb wrapping the cord around his neck twice. My son then was severely jaundiced and ended up in special care, it was at this time i began to notice him 'twitching' (3 days old) he was scanned but being very new nothing was found in his brain. Yet he kept doing this and would sometimes have a look on his face like he was scarred out of his wits, after much fighting on my behalf, (i got so angry being turned away from A&E being told there is nothing wrong) i couldn't give up, i kept a diary and then once more turned up and it was only as my son bowled forwards and stiffened in my arms that the doctor panicked and did something, after being admitted for a week he was diagnosed with Tuberous Sclerosis Complex, Epilepsy (the twitching) and Polycystic Kidney Disease, was such a relief to have a diagnosis and to finally have people know i wasn't making it up or going mad!!

We now have other strings to our bow, global developmental delay, learning problems, speech problems, behaviour problems, low muscle tone etc still fighting the system and trying to be referred for an Autistic assessment, mobility part of care and others, it never ends. Ive been told he would also have a diagnosis of Dyspraxia if it wasn't for his TSC! If he has it why not give the diagnosis?? Ive also been told he has "autistic characteristics as part of his TSC", yet they are 2 seperate diagnosis and ASD is caused by TSC its not part of it, does my head in! Apologies for the rant lol

He is a gorgeous, caring, sharing, kind, wonderful little boy and i wouldn't change him for the world. He is who he is and i love him unconditionally for it. He means the world to me and is more precious to me then any hidden treasures of the ocean.

Some links if you want to find out more or feel free to chat; http://www.tuberous-sclerosis.org/
http://www.pkdcharity.co.uk/
http://www.epilepsy.org.uk/
http://www.nas.org.uk/

This is us! Thank you for taking the time to read us Heart
Happiness is the path we lead not the destination Idea
#2
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hi and welcome to the forum. I looked at the TSC link you put above and noticed something about a boy with it being on the 'born to be different', i remember watching it but am struggling to remember which boy it was, was it the one who had the younger sister and his mom was diagnosed with MS at the end of the last show?

I'm Lucy by the way, we have 3 children, emily7, euan2 and alfie now 4months! Euan has a rare genetic disorder called cystinosis. To look it him you probably wouldn't initially realise he is disabled but it takes a heck of a lot of work to keep him like that, he takes 10 medications 4 times a day to keep all his blood chemistry in order and to try to slow the damage being done internally by his condition. He also has a massive fluid intake and because his kidney do not work properly, he equally has a massive urine output! his condition is mainly managed by the renal team at our local childrens hospital, but he also sees a general paed for development issues, an eye doctor to monitor crystal build up in his eye, i'm awaiting his referal to the orthopaedic surgeons as he is having problems walking and with his bones and he doesn't grow so he will at some point need to see a different doctor about growth hormone therapy! gosh it sounds alot when you write it all down but despite all of this he is the happiest little sole going (most of the time lol), he has an incredible sense of humour and is a total inspiration to us with how he deals with everything. Lately he has been a bit more difficult in regards to tolerating all his treatment but I am hoping it is just his age and not possible ASD/ADHD as he is being assessed for.

well theres my long introduction to you lol thanks for taking the time to introduce yourself and your family!

Lucy xx
#3
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(11-14-2009, 09:01 AM)Lucy Wrote: hi and welcome to the forum. I looked at the TSC link you put above and noticed something about a boy with it being on the 'born to be different', i remember watching it but am struggling to remember which boy it was, was it the one who had the younger sister and his mom was diagnosed with MS at the end of the last show?

I'm Lucy by the way, we have 3 children, emily7, euan2 and alfie now 4months! Euan has a rare genetic disorder called cystinosis. To look it him you probably wouldn't initially realise he is disabled but it takes a heck of a lot of work to keep him like that, he takes 10 medications 4 times a day to keep all his blood chemistry in order and to try to slow the damage being done internally by his condition. He also has a massive fluid intake and because his kidney do not work properly, he equally has a massive urine output! his condition is mainly managed by the renal team at our local childrens hospital, but he also sees a general paed for development issues, an eye doctor to monitor crystal build up in his eye, i'm awaiting his referal to the orthopaedic surgeons as he is having problems walking and with his bones and he doesn't grow so he will at some point need to see a different doctor about growth hormone therapy! gosh it sounds alot when you write it all down but despite all of this he is the happiest little sole going (most of the time lol), he has an incredible sense of humour and is a total inspiration to us with how he deals with everything. Lately he has been a bit more difficult in regards to tolerating all his treatment but I am hoping it is just his age and not possible ASD/ADHD as he is being assessed for.

well theres my long introduction to you lol thanks for taking the time to introduce yourself and your family!

Lucy xx

Hi Lucy Smile

Its mad isn't it, ive found just because they dont look disabled people can find it harder to then take in, we get random looks, food shopping not the best thing to do (but have to when i have no choice) the last time we went my little man tried to poke some woman who was standing too close on the bottom lol, luckily enough i managed to prevent this Smile however the scarf stealing (from around a ladies neck) i did not, but se saw the funny side *phew

At the mo we're fortunate enough not to be on more then 3 meds twice a day, but i know as his kidneys begin to change and deteriorate things will change. All praise to you to keep on top of that amount!
Yeah you have got the right child his name is William, he is more severe then my son as in previous episodes he had to have brain surgery to try and control his seizures. My sons seizures are more serious now he is older but not to the point he requires any surgery to remove tubers in his brain (fingers crossed as awaiting results from MRI the other week)
It sounds like you really have your hands full with your son, i hadn't heard of his condition so looked it up, it really is rare isn't it 1 in 200,000, when did you first find out? It was hard enough for me to take in, TSc is 1 in 7,000 so i can only imagine how it was for you. Is it a genetic condition? TS is but it can also happen with random gene mutations in the womb (us) Although now my son has it he has a 50/50 chance of passing it on, no guarantees how they would be affected, could be better could be worse.

Thanks for replying and i hope you and your famliy are having a great weekend Smile x
Happiness is the path we lead not the destination Idea
#4
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haha keeping on top of 10 meds doses is difficult, i'm not entirely sure how i do it myself but i seem to memorise them quite well. Its funny when euan has to be admitted to hospital, we have to go through A&E (which is so sfrustrating) and the firt thing they say is ''what medication is he on'' there face is a picture as i start reeling them off lol.

The worst thing I find with Euan not 'looking' disabled is when we park in disabled bays and I leap out the car, you get people look at us asif to say 'your not disabled why are you parking there' ESPECIALLY other blue badge holders, they are the worst and I'm thinking to myself, your a 60yr old man, with a limp who has probably had a full life before needing walking aids and my son has to effectively be kept alive with his coctail of medications amongst all his other problems......Euan is far sicker than them but they have the cheek to judge at face value, things aren't always that simple!

Yes Euans condition is rare Big Grin makes him all that little bit more special to me. We were quite lucky though, our local childrens has 9 other patients with the disorder so we have met others with it. Just after he was diagnosed aswell, there was an international conference in Ireland about it so we went along and met people (children and adults) from accross the world who have it. It helped because it gave me hope for his future Smile

It is a genetic disorder, both me and my partner carry the recessive gene so we have a 1 in 4 chance that every child we have could have it. Funny thing is, we have an older daughter and a younger son who both don't!!! I kind of think to myself sometimes 'why euan'....out of all three why him? but i try not to dwell too much, you just have to get on with it! My younger son, we have been told is a carrier of the gene but our older daughter has not had genetic testing so that is something she will have to think about when she decides she wants children (although life doesn't always pan out like that) but saying that the chances of her meeting another carrier are very slim!

We are having a wet weekend lol, it has non stop rained so i think we may even put the xmas tree up later Tongue early i know, but i just love xmas!!! Big Grin

xx
#5
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Hi Sleepless!!

It's me Smile Lou's mum Wink

Great site huh?

Lucy - our children go to the same special school, they are both in reception year Smile We met via a mencap special needs preschool and have been friends since, with 'mum meet ups' in the week and the odd trip to Alton Towers! ConfusedBig Grin

xx
Remember when you were young you shone like the sun, shine on you crazy diamond.


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