Patrick's Tests

We spent the day in Southampton hospital yesterday so Patrick could have his special eye tests and so that they could take lots of blood and urine samples from him (poor thing).
We are pleased to be able to report that his eyes are fine. The tests they performed were very complex, they had to attach some probes to Patrick's head and sit him in front of a TV screen showing black and white squares that he had to focus on. Unbelievably Patrick was so tired that he slept through the whole test and the poor assistant had to hold Patrick's eye lids open! It's amazing what technology they have as they were able to tell exactly how Patrick's brain processes what his eyes can see and thankfully he can see really well. They also looked closely at his retina which was more important for diagnosing his condition. They did this by attaching probes just under his eyes and then holding flashing lights in front of him in various colours and speeds. The Dr was really pleased with him and said that she could see nothing wrong with his eyes at all and that they could now rule out several nasty degenerative conditions including Battens disease. The flashing light test also proved that his epilepsy isn't triggered by flashing lights which is handy to know.

After his eye tests we had a consultation with Fiona who explained that they are now going to send off his blood samples and urine to be tested for various other conditions. I did ask what exactly they were looking for and Fiona proceeded to read out a very long list of Metabolic, Genetic and other disorders and left me none the wiser! What I did understand is that the majority of these tests have been done before and had negative results so they are just double checking and there are several things they are testing for that his symptoms don't quite match with so are unlikely to come back positive. There are a group of Genetic tests that haven't been done before so they could show something. We have to wait until the 20th December for the results so we'll let you know if they find anything.

As far as Patrick's seizures go, they're still pretty stable at the moment. He has had a rotten cold and a temperature over the last few days so he's had a couple of big ones but in general he's much better than before and is only having the odd jerk, more of a muscle spasm than a full seizure.

As always I'll let you know if anything changes over the next few weeks, hope everyone is well and looking forward to Christmas as we are.

Take Care, Love Gemma xxx

Meds Update

Hiya, Sorry it's taken a while to update, I've been waiting to see if his new meds work so I had some definite news to report.

So, I took Patrick to see his neuro a week ago last Monday. When we arrived for the appointment he was fast asleep so I deliberately woke him up in the hope that he would have a seizure (sounds awful and I felt very guilty but it is always better if his neuro can see him fitting as it makes it easier to prescribe the right drugs). Thankfully he did have one of his bad seizures so she was able to get a good look at him close up and see that we weren't over exaggerating the severity. Anyway, Fiona has now introduced a new medication called Clobazam into the mix, he started off last week on a very low dose and it will be gradually increased over the next few weeks. I have to say though that within a few days on this medication his seizures have got better. Instead of having bad ones at any time for the past 4 days he has just had one during the day and one at night so that is a massive improvement. I don't want to tempt fate but yesterday and last night he didn't have any 'proper' seizures at all, just a few light jerks. If he carries on improving as the dose is increased we may get him seizure free which would be fantastic as he hasn't gone a full day without fitting for 6 months!
Not having seizures has a massive effect on his personality, yesterday he was in a great mood all day and when he's happy he's noisy! He is still limited in his communication but when he's happy he squeals with excitement at the top of his voice! He'll lie on his play mat kicking his legs and waving his arms and just makes noise. He does this at 6 o'clock in the morning when he wakes up but you can't feel grumpy with him, he sounds so happy to be awake you just can't help but smile, he's the best alarm clock I've ever had! There's no volume control with Patrick at all, he just does loud, you can't hush him as he doesn't understand that so yesterday in particular our house was full of noisy happy sounds, it was great!

Anyway, I've got to go take Isaac to school and start the busy day, will update more at the end of this week. xxxx

Seizures

Hiya,

Patricks seizures have changed again and unfortunately seem to be going back to the Spasm type seizures that are quite distressing for him. We have spoken to his Neurologist and are taking him in to Southampton tomorrow (Monday) so she can have a look at him and sort his meds out. We have been weaning off a couple of meds over the last month so this is probably down to that, we may end up having to stay in for a couple of days while they try and get on top of his seizures again, we'll let you know how we get on tomorrow.

In the meantime here's some more pictures of our baby boy in his new chair! We have been leant this new equipment temporarily until social services can issue him with his own more permanent one. This one is a little too small for him really but it's great as it gives him full support and helps him sit up properly which will hopefully help towards strengthening his muscles. He also has a new bath support which is a great help as bathing him was getting very difficult as he is so big and heavy.

Test Dates

Hiya, just to let you know that we have the date for Patricks eye tests and blood tests. We're taking him to Southampton on 29th November so we'll not have any new news until the end of the month. Patrick is still amazing us every day with his strength, he actually managed to hold his bottle the other day which was a great achievement. His seizures aren't too bad at the moment although they seem to be creeping up in strength and number again so were keeping a close eye (nothing new there!).

Thank you for all your support, we have received several kind messages that really mean a lot. We are coping quite well really under the circumstances, we are still able to stay positive and are carrying on as normal. We're not in denial, we have fully accepted what may lie ahead but we're taking each day as it comes and today Patrick is doing OK so we're OK, if that makes sence.

For those who gave Patrick money for his christening, I have bought some fun things for him. He now has a new musical vibrating rocking chair, a giant multi coloured bean bag to nap on and a soft foam play mat so thank you very much. Our lounge now looks like an indoor play centre but who cares?!

Anyway, I'll leave it there as Patrick is sitting on my lap waiting for the next chocolate button, he's not impressed at the long wait between each one as Mummy is distracted!

Christening Pictures

Mummy, Daddy and me

My parents and Godparents with my brother Isaac and I. (My biggest brothers were camera-shy!)

Mummy will be adding more photo's later

Some Sad News

I'm really sorry to say that this blog entry is not going to be a positive one so for those who might be reading this while at work, you may want to save it 'til later.

As you know Patrick had his MRI scan on the 18th October. We have now received the results and have a much clearer idea of Patrick's condition.

You may remember back when this all started that Patrick had an MRI done at Poole hospital. That scan showed that everything was normal apart from there seemed to be a little less white matter than there should have been for his age (White matter coats the brain and protects the nerve fibres). At the time they said that this news wasn't that significant as he was so young and the difference wasn't really that much to worry about. They have now been able to compare his latest MRI with the one they took back then and unfortunately the results aren't good.
Not only is there less white matter than there should be but it seems that between the 10 week MRI and now, he has actually lost some white matter. This indicates that Patrick has a degenerative brain condition. What this means is that they think that over time Patrick will lose more white matter and gradually lose motor skills and his development will basically go backwards. Patrick has to go back to Southampton for further tests over the next week to confirm all this, they need to look at his vision processing (how his brain interprets what he sees) and also take blood and urine samples. They are confident that they will be able to properly diagnose his condition and then hopefully we will have more information about what to expect. If they don't get all the answers at Southampton he may end up being referred to Great Ormond Street. We have been told already though that whatever the diagnosis, it is highly unlikely that there will be a cure or any treatment that will stop the condition, and therefore this condition would be terminal.

As you can imagine we are totally devastated by this news and were really shocked. Patrick has been developing really well recently and seems to be gaining skills - not losing them, even Fiona his neurologist said that she was really surprised at the results as she has seen him several times over the last month and can also see that he is getting stronger and more responsive.
Fiona did measure his head while we were there on Friday and unfortunately his head hasn't grown much at all over the last 4 months, this is also an indication that his brain isn't developing and growing as normal.
We can only hope at this stage that he'll prove them all wrong and somehow he'll be fine.
The weeks ahead are going to be difficult as we find out more and we'll of course keep you all as updated as we can.

For now we can only take each day as it comes and continue to try and work at bringing on his development with lots of physio and love. We are trying to carry on as normal and be as positive as we can be. This news changes nothing and everything all at once, it changes nothing in the way that we will care for Patrick and stay strong as a family but it changes everything in terms of the services we will now get access to and the respite care we will be able to use. We are obviously concerned about how this news will effect our other children, in particular Isaac who we will try and protect from the worst as much as possible but also Ashley and Billy as they are old enough to fully understand what may lie ahead.

For those of you who joined us for Patrick's christening, thank you for helping to make it such a special day. I hope you can understand why we didn't tell everyone the news until now, we didn't want Patrick's day to be a sad occasion. We are more determined now than ever to make sure that whatever happens in the future, we make lots of happy memories along the way and Sunday was one special day that meant a lot to all of us.

As you read this and digest the news, especially if you have children yourself, take the time to reflect about how precious all our children are, every hug, every smile and every giggle is a magical moment to cherish. It is so easy to get complacent and take the smallest things for granted. One thing we have learnt is that life is far too short and we all need to make that little bit more of an effort to spend time with family and friends.

Keep your eye on the blog, we will be updating it soon. xxxxx

Quick Update

Just a quick one to let you know where we are at the moment.

Had an appointment at the beginning of last week with Patrick's neurologist at Southampton. We took some video footage of Patrick fitting to show her as his fits have changed slightly and it was her opinion that Patrick does not have Infantile Spasms but is in fact having 'Complex Partial Seizures'. The main difference in the physical appearance of his fits is that there's a definite build up, first his arms and hands start fiddling (looks like he's playing the harp) and his breathing gets a bit deeper. Then he will stretch his arms and legs out and hold it for a second then he repeats this for about 5 mins.

I guess if Fiona (neuro) is right then it could be good news for Patrick as Complex Partial Seizures are far more common and easier to control. We have been given a new medication called Carbemazepine, it does make him sleepy so we're weaning him on to it slowly and wont really see if it's working for about another week. He is still taking the others but we'll begin the process of reducing those soon. We're a bit stressed out with it all at the moment as this new medication sounds great but unfortunately it does come with the risk of making him worse. If his neuro hasn't got it right and he is in fact having Infantile Spasms, this particular med could actually work against him and make his seizures worse. We are closely monitoring him and timing his seizures at the moment until we are confident that isn't the case. He is at the moment still having around 12 fits a day including 2 during the night so it is still a lot to deal with.

Development wise he is still doing well, still enjoying being thrown about and he does seem to be getting a bit stronger in his legs. He has no interest in holding anything at the moment and we're still no closer to getting that head control but he's happy, which is good enough for us. Patrick's physio and occupational therapists are working hard with him and have been giving us a lot of support, with that support comes equipment and so far Patrick has a special chair to sit in and 'corner' table to use all to encourage his head control. This is great but anyone who has visited our house will know, we are a little over crowded to say the least so new equipment is fab but Patrick is taking over the house! There is talk of Patrick needing a special bath support as bathing him is becoming increasingly difficult as he's so big but floppy (weighs 20lb now!) that will be a major problem is our house as these supports take up half the bath and are fitted in, so he'll be alright but the rest of us will have to make do with a cold hose down in the garden I think!

I took Patrick along to an under 1's club last week. It's the first time I've taken him to anything like that and if I'm honest I found it really hard. Patrick was the oldest baby there with average age being 3 months. It was shocking to actually lay him side by side with these tiny babies and watch them rolling around trying to escape when all Patrick can do is lie there and smile. He does win the prize every time for most infectious laugh though and is the most good looking baby so what he lacks in ability he more than makes up for in cuteness!

Anyway, I'm gonna leave it there, it was supposed to be a short entry as we have a really hectic week this week. Got Portage starting tomorrow (a kind of development through play session), Physio and OT on Thursday and on Friday I am meeting a woman who has an 11 yr old disabled daughter with epilepsy so that should be interesting. I am also in touch with a woman from Southampton who's 2yr old son has a very similar condition to Patrick and I will be hopefully going to visit them soon so that may give me a better idea about what the future may hold.

Everyone else is fine, Isaac's loving school and we were proud parents last week at his Harvest festival assembly that he had to sing in, bless.

Hope everyone is ok, love to all, Gemma xx