Happiness is a journey...

Hello world..

I have not been blogging for a while  now - but now i'm back :-)

 I have had a very difficult few months health wise and also personally. A while back in July I had the wonderful news that my thrombosis had now gone and I blogged about this being a fresh start for me -  http://wobblymum.blogspot.co.uk/2013/07/a-new-beginning.html
...all seemed positive. Then everything seemed to just fall apart, the neuropathy I have (Charcot Marie Tooth Disease) hit me with symptoms worst than I had ever had and I found myself falling almost daily and in pain constantly. As for my head, the news that the Sagittal Sinus thrombosis had gone was soon followed by the usual headaches, disturbed vision and horrendous 'whooshing' in my head. It seems a combination of scarring left by the SST and the IIH (Idiopathic Intercranial Hypertension) are still going to try and rule my life.

I found it difficult to cope with all the physical symptoms and was fighting the depression which was starting to take hold again. I try incredibly hard to be positive for my son - I don't want him to grow up looking back on a miserable mummy, I want better for him. He has his own problems, I passed on the Charcot Marie Tooth to him (it is genetic) and he has now also been diagnosed with Hypermobility Syndrome. So the past few months have also meant trips for Physiotherapy, Occupational Therapy and Orthotics for Sam. 

My consultant Neurologist and my G.P talk of my need for support.  My boyfriend and I parted two months ago. I have an amazing mum who unfortunately due to her health ( Charcot Marie Tooth disease also) is unable to help me physically..but she is there for me and understands. I also have a wonderful friend who was my Homestart volunteer when Sam was tiny.. she is there if I need to moan but sadly we leave quite far apart, as does my best friend. Most of my family (apart from my sister and her daughter) just don't understand, and I often hear negative comments filtering back to me through third parties, it hurts and it feels like being kicked when you are already down and struggling to find the way up. So..Sam and I tend to 'go it alone' a little team of two taking on the world.

I am now getting used to the sudden worsening of the CMT and realise that although the clot has gone I will still have to live with the IIH and other symptoms that the clot has left such as memory loss, and the sudden loss of words when talking ( so frustrating) However at the least the Stroke risk has now gone with the clot! I am focusing on Sam, he keeps me going as he is the centre of my universe - a wonderful son who loves me unconditionally.

Health wise I am finding that following a healthier diet is helping me and I decided a couple of weeks ago to join Weight Watchers. I had put on all the weight I lost after having Sam and this is not good for the CMT or the IIH so it was time to take action and go back to WW who I lost it with before. It took a lot to get me there, anyone who suffers from Depression knows how hard it can be to go and do something different..but my Consultants words about losing weight were ringing in my ears lol, so I did it and I am so glad I did because its a friendly group with a lovely leader. It has given me a little more control of my life..and now i'm obsessed with counting pro points, but hey..it takes my mind of other stuff!


                                             

 Here is to a happier journey.... xxx

A new beginning?

I'm back. Sorry for the absence of me wittering on, I have been in hospital for a week - followed by at home mostly lying down with a post Lumbar Puncture headache for another week. Such fun. Life is never dull here in sunny Sidmouth!

Good to be home, I missed my little man sooooo much when I was in hospital, and he has been incredible, so good, i'm very proud of him and love him all the world.

Well, I went into hospital with a headache..the mother of all headaches. This has happened occassionally with the Sagittal sinus thrombosis, but this time as I was having some rather worrying stroke like symptoms I thought it best to call the doc. I was obviously worried the clot had moved or grown - and I was in so much pain. He arranged for me to go straight in and there I stayed for a week and many blood tests, ecg's, scans a lumbar puncture and plenty of pain killers later I was finally set free - to come back to clinic to discuss results with my neurologist the following week.

Yesterday afternoon bubs and I set out to Exeter in the rare sweltering summer heat to try and find an even rarer parking space close to the Royal Devon and Exeter Hospital for my Neurology clinic appointment. Amazingly we find one and so still have plently of time to fit in three trips to the toilet and a drink ( such is life with a four year old!) My Consultant calls me in as we are coming out of the toilet for the fourth time and a comical handshaking routine with Sam ensues. I am thinking, 'this is all a bit surreal, what is going to happen next'? Well, what happens next is he tells me that my clot has gone, and I don't believe it so he shows me the scans.. it's gone. I get emotional, he wells up a bit too (bless him) 'It's very positive isn't Sara'? he says..

November 2006, Rushed into A&E at Gloucester Royal Hospital, the clot was found, Sagittal Sinus Thrombosis eventually diagnosed after consulting with Frenchay Bristol.I was discharged after two weeks with no advice on how to manage the condition,or the damage it had caused.. just told it would probably disperse in about six months. Now it's seven years later and I have had to learn along the way that it would cause constant headaches and has caused memory loss and affected my use of words , affected my vision, weakened my right side, and more..no doctor told me any of that in Gloucester, in the beginning.

I am thankful that from mid 2007 I have had a wonderful Neurologist at the Royal Devon and Exeter Hospital when I Moved back home to Devon.
I understand from him that I will always have headaches, I am on medication to try and manage this, I am also high risk for thrombosis so will have to remain on warfarin. The memory loss etc cannot be reversed ..so little man is stuck with his forgetful mum - but at least he has a new beginning with her now. No more ticking time bomb :-)

Stockings and heat...

Hello, sorry it's been a few days, however I am writing this lying on my bed, in The Royal Devon and Exeter hospital. It has been an interesting few days..well, that's one way to describe it!

As you know, I have an ongoing Sagittal Sinus Thrombosis, and this can cause problems from time to time. It carries a risk of stroke and other neurological complications.Last week my symptoms prompted my GP to send me straight to Hospital to be seen, and im still here. It is very hot in here, especially in my sexy support stockings, and i'm a bit fed up. I'm to have a Lumbar Puncture..so not looking forward to that!

Hey ho! 

Bedtime Battles and Custard..

My little man is going through a 'bedtime battle' stage ( at least I hope it's a stage) nearly 10 o'clock last night by the time he settled. Sam used to be so good at bedtime, from the time he started sleeping through 'til a few months ago - he was brilliant. People used to tell me how lucky I was.. and now he just won't settle on his own, and is very clingy too. It's becoming very tiring, and trying to stay calm is very trying! Perseverance...

We came downstairs this morning and bubs turns to me and says, 'Mum, can I have custard for breakfast?' hmmmm.

So, it's July then, nearly halfway through the year already. Scary. Sam starts School in September and I just can't believe where the years have gone, my little baby boy has grown up so fast. I intend to treasure every moment with him while I can, life is precious.

Still got weird vision and an ever increasing headache. I don't think being overtired helps, but what can I do? Unfortunately tiredness seems to affect both conditions badly - and stress. I see my Neurologist in a couple of weeks, I see him for both the Charcot Marie Tooth and The Sagittal Sinus Thrombosis, my memory has got so bad ( because of the Thrombosis) I am compiling a list of things I need to talk to him about. Hope he's ready for me!!

Right, that washing wont get itself on the line.... ;-)

New balls and welly boots...

So its The Championships, Wimbledon and Glastonbury Festival. Bring on the rain. I'm okay though, as I'm safely snuggled on the sofa watching Englands Laura Robson do her thing ( with the roof closed over centre court of course...)
Alas no strawberries and cream or champagne for me though :-(

I would love to go to Wimbledon, just a day ticket would be fine..soak up the atmosphere, sit on 'Henman Hill', but somehow I don't think it will ever happen. Glastonbury however, oh I have good memories of that ( ok, stop remembering, I feel old now...lol) I was very lucky the few years I went, it was hot and so NO MUD!! It would be great to go again, take little man - the Cbeebies gang are there this year in the childrens area, he would love that! They have a 'disabled' camping area I think and I'm sure I read once that a helper goes free. Children go free I know that. Maybe in the next couple of years..

Late night last night, tired legs and weird vision today. I can't do late nights anymore it seems to affect me for days, but also i'm not sleeping well right now, doesn't help. Hey ho :-) Early night tonight!

Sunshine and Butlins ..

Sam and Sprout

 

For those of you not familiar with Butlins, in the picture above is Sprout of 'The Skyline Gang' - with my little mini sprout.

 

Yesterday myself and Sam's Nana took him to Butlins for the day to cheer him and his Nana up as they have both been feeling a bit under the weather. So up at the crack of dawn (hang on, isn't that normal for Sam?) off to pick up Nana then the drive to Minehead. We never told Sam where we were going, I think he thought we were going to Marks and Spencers to do some shopping!

 

Once we we were on the edge of Taunton my little bright spark pipes up - 'mummy, I think I saw a sign to Minehead, is the car taking us to Butlins?' then he fell asleep, and I realised he was awake as we neared Minehead and from the back came 'Mummy! Nana! I can see Skyline!' Bless him.

 

Over six hours we were there, and it flew by, it was great to see Mum smiling too, she has full independence there, she hired a mobility scooter for the day  (mum has CMT like me and isn't very mobile now) and she enjoyed being able to look around the shops etc independently. I can no longer push her in a conventional wheelchair since I developed the blood clot (Sagittal Sinus Thrombosis) so it does make days out for us difficult.

 

I knew bubs would sleep on the way home as he was stumbling to the car ( wobbly sam and wobbly mum) with aching legs, but even so he still wanted to keep going - he has such spirit.

 

So, a success, and I was quite impressed with the price, I was expecting it to be expensive ( you know how it is with theme parks and the like - take out a mortgage to get in) it was £29 for the three of us. With so much to do - bargain.

 

 

 

Lie in, Waitrose bargain hunting and gallons of tea..

Well, guess what? I had a lie in today. Yes, you heard correctly, an actual lie in past 8 am! oh what a luxury :-) usually on the rare occassion I get the chance to stay in bed, I wake at 6 ish then can't get back to sleep so end up getting up anyway. Not today, oh no - I woke at 7, got up for a wee then fell back to sleep. Fantabulous.

I have drunk so much tea today, gallons of the stuff, I love my cuppa. Nothing like it, far more refreshing than coffee, I could live without coffee, but never tea. I nice strong cup always goes down well, and if i'm feeling a bit stressed or under the weather Earl grey always seems to pick me up. It was always my dream to open a tea shop, a proper one, lovely homemade cakes the lot..  

I realised at about three o'clock that I had no bread and little milk (probably all the tea drinking!) so off up to Waitrose I go, and it's heaving. Everyone jostling to find a bargain - as you do on a sunday afternoon. So not to feel left out I come back with two carrier bags full! Lot's of fruit and veg' as the diet starts tomorrow (eek)

Right, signing off now as my lovely bubs will be home soon - cuddles time!! :-))

Pesky hands and Candy Crush..

My bubs is safely dispatched to his dads and i'm raring to go..or not. Typically, as I have free time my body has decided to hit me with a 'bad day' I struggled to get down the stairs this morning, but hey ho, i'm determined to have some sort of day out (pace yourself girl!) Nothing is gonna stop me..

So, porridge eaten (energy) painkillers taken (extras in bag), make -up slapped on (this took longer than usual today with my pesky haking hands) it's walking stick in hand and off I go..

After another coffee...and maybe some Candy Crush Saga ;-)

About Charcot-Marie Tooth

Charcot-Marie-Tooth disease/syndrome or CMT is named after the three neurologists who first described the condition in 1886 ( Charcot, Marie and Tooth) It is the most common inherited neuromuscular disorder, affecting approximately 1 in 2,500 individuals. The other term commonly used to describe the condition is hereditary motor and sensory neuropathy (HMSN). This name describes the two primary features of this condition: it is hereditary (passed on in the genes from parent to child) and it affects the motor and sensory peripheral nerves.

CMT is not in fact a single disorder but a group of conditions that have some similarities. Neuropathy means a disease of the peripheral nerves. These are the nerves that connect the spinal cord to the muscles, joints and skin and carry messages in both directions, and in CMT they do not function normally. The group of conditions known as CMT cause weakness and wasting of the muscles below the knees and often those of the hands as well. Many affected individuals also have loss of feeling in the hands and feet. Disease onset usually occurs during the first decades of life and gets worse slowly. Severity is highly variable even within families.
 
Because there are many different types of CMT, it is important to determine exactly which type someone has. Although in the last decade many genes responsible for CMT have been identified, not all of the genes that cause the condition have yet been found. This means that nerve conduction studies (electrical tests on the nerves) are still often used to help make the diagnosis. A DNA test for the most common form of CMT (type 1A) might be performed first if there is a clear family history of autosomal dominant inheritance of the condition.

Presentation of CMT

Onset is slowly progressive.

CMT1

This is the most common form. Onset is usually by the age of 10 years with:

• Muscle weakness and wasting starting from the intrinsic muscles of the feet, and gradually affecting the lower leg and lower thigh. The pattern of distal wasting in the legs is sometimes described as 'inverted champagne bottles'. Hands and forearms may also be involved. Wasting of the small muscles of the hands causes finger curling and difficulty in straightening or abducting them.
• Sensory loss follows the same pattern, beginning in the distal legs and arms with decreased sensation of vibration and touch. Proprioceptive sensory loss can cause sensory ataxia and a steppage gait. Tasks involving fine motor control of the hands may also become progressively more difficult. .
• Generalised tendon areflexia.
• There may be foot drop and foot deformity. Pes cavus (high arch) has a 25% occurrence rate in the first decade of life and a 67% occurrence rate in later decades. Hammer toes and pes planus (flat feet) are also seen. Patients may experience difficulty walking or running, often tripping. Pressure palsies are common.
• Spinal deformities, eg thoracic scoliosis, occur in 37-50% of patients with CMT1.
• Other common symptoms and signs include hand tremors and muscle cramps.

CMT2

Primary peripheral axonal neuropathy (CMT2 or HMSN-II) with onset usually in the second decade, but may not appear until later. The pattern of peripheral weakness and wasting is similar to CMT1.

CMT3

This is characterised by infantile onset, usually by 2 years. Onset can occur by the time of birth, presenting with hypotonia or floppy baby syndrome. It results in severe demyelination with delayed motor skills and is much more severe than type 1.

CMTX

CMTX1 is usually mild in women but in men there is moderate to severe peripheral neuropathy. With other CMTX forms, only men are affected. For CMTX1 there is usually subclinical central nervous system involvement (eg mild clinical signs, MRI cerebral white matter abnormalities, and EEG abnormalities).

For more information on CMT - www.cmt.org.uk

Weekend Rugby and chocolate

Another Friday almost over (although everyday is pretty much the same in this house) and tomorrow I have the luxury of a day off! I say luxury as having a child free most of Saturday/Sunday is a rare occurance.
So..I can watch the rugby and spend some time with my chap :-)
I have had serious munchies today. Not good. Pass the chocolate...or the ice cream... lol.

Coughs, colds, cucumbers and sprout sandwiches..

So Sammy was up most of the night coughing away, bless him. He's shattered this morning, this didn't, however stop him from wanting to go and check his cucumber plant that he is growing in the garden. My little mini Alan Titchmarsh!
The little man is shattered, lying on the sofa, and i'm a very wobbly mummy today lol.
Cucumber..he especially wanted to grow cucumbers, he loves them - and peppers, he will quite happily just munch on big chunks of them. I have no problem getting him to eat vegetables and fruit. A few weeks ago I asked him what he would like for his tea, he answered 'i'd like sprout sandwiches please mummy' I was in Waitrose at the time, and the lady next to me gave me the oddest look. I laughed, but he was serious!!..

Why life can be a bit of a headache ;-)

So..I said earlier about waking with a headache again. I feel I should explain. I have Sagittal Sinus Thrombosis, this was discovered in 2006 when I was rushed into A&E with a severe headache - and life has been full of headaches ever since! lol.

Cerebral venous sinus thrombosis is the presence of thrombosis (a blood clot) in the dural venous sinuses, which drain blood from the brain. Symptoms may include headache, abnormal vision, any of the symptoms of stroke such as weakness of the face and limbs on one side of the body, and seizures. The diagnosis is usually by CT/CAT scan or MRI.
Treatment is with anticoagulants (medication that suppresses blood clotting), and rarely thrombolysis (enzymatic destruction of the blood clot). The disease may be complicated by raised intracranial pressure, which may warrant surgical intervention such as the placement of a shunt.There are several other terms for the condition, such as cerebral venous and sinus thrombosis, (superior) sagittal sinus thrombosis, dural sinus thrombosis and intracranial venous thrombosis.

My clot is still sitting there being awkward, causing headaches, dizzy spells, abnormal vision and more. But I feel i'm lucky to be alive, and value my life :-)

I run a support group on Facebook for sufferers and their friends/family, it now has over 70 members! You can find it here -


https://www.facebook.com/groups/7110635905/

Cakes, toys and headaches

'Homemade Cakes, biscuits, cookies, pies, sausage rolls etc for the cake stall' this can only mean that Sams preschool are holding their summer fayre on saturday. 'Books, toys, cakes etc to sell...' so today means turning out toys day and planning a cake baking marathon tomorrow.
Except I have woken with a headache. This is nothing unusual..but why do the worst ones always happen when I have lots to do?!! Anyway, I am pacing myself, I got back from preschool and have sorted the toys. will rest before doing some housework, rest again whilst browing recipes..(with tummy rumbling lol) Im thinking Banana cupcakes, and maybe some flapjacks..all easy. ( Note to me - dont eat the flapjacks!)
Such is my wobbly life, do a bit, rest, do a bit..

A full day in my wobbly world

I should start by explaining that I have a condition called Charcot-Marie-Tooth disease (CMT) Type 1a, also known as hereditary motor and sensory neuropathy (HMSN) Today I took my 4 year old son to see a paediatric neuro specialist for his first assessment after being diagnosed at 3 as also having type 1a CMT.
When I was pregnant with Sam I always knew the risk of passing it on, it is a genetic condition and there is a 50/50 chance of passing it on to your child. When he was a baby we saw a genetisist who advised no testing unless any signs of CMT started to show later in childhood, so off we went..my ex husband hopeful, and me feeling like it was a waiting game..I just wanted to know.
As Sam started to walk it became apparant that he was walking a little awkwardly, it was said maybe he had fallen arches..they would correct themselves. Then as he progressed he started tripping and falling seemingly easily..but was it just me? Then Sams preschool spoke to me about how they had noticed that he fell a lot, how he needed help on some play equipment..was there a problem? It was then I asked to get him tested, he was 3.
You would think it would be quite straightforward, no. The genetisist didnt seem to think he had it, or that symptoms could show at his age even though I explained that my symptoms started as a child, as had my sisters. However, he took his blood for testing and we were told we had a three month wait for results.
Two months later the letter arrived. I knew..I always knew, mothers intuition? So, it confirmed he had type 1a HMSN and that at some point he would see a paediatric neurologist.
Fast forward to today...8 months later! and at last he gets his assessment. Lovely Doctor, Sam will be with him until hes 16. He has been referred for physiotherapy, Occupational Therapy, and Orthotics. He is also writing to his infant school, where he starts in september to advise them of his difficulties. I wish I had had that sort of understanding when I was at school.
I so love my boy, he is the centre of my world...

For more information on Charcot-Marie-Tooth Disease visit www.cmt.org.uk






 

Adventures with Bob, Thomas, Mike, Sam....Butlins!