Spinraza day 1

This is day 1. Anna has just returned from theatre having had a general anaesthetic to receive her first dose of Spinraza (nusinersen) by lumbar puncture. She feels sick and is likely to be sore. Possibly a spinal headache.

She will repeat the procedure on days 14, 28 and 63 and then 4 monthly afterwards. Several days before each procedure we have to come in to get her bloods taken.

These are traumatic events for Anna. But it’s all worth it. Because this is the treatment that could potentially change Anna’s life. At the very least it should stop the deterioration in her strength that we see as she grows.

Scotland approved this treatment to begin April 2019 (Anna is one of the first as a result of the new agreement) as have many other countries. But shockingly it’s not yet available elsewhere in the UK

https://www.musculardystrophyuk.org/news/news/access-to-spinraza-an-update-2/

We are so grateful that Anna can have this but so disappointed for those who are not yet able to.

X

Spinraza – approved!

Today, Spinraza has finally been approved for all those with SMA in Scotland. Although we were hopeful we would reach this day, it was never a certainty. Spinraza is the first ever drug treatment for SMA and while it is not a cure, it will hopefully give all those with SMA more muscle strength than they currently have or at the very least halt the deterioration.

Spinraza is the first and only approved treatment for SMA, a life changing and life threatening condition. Biogen, and the scientists behind the development of Spinraza, have won numerous awards for this groundbreaking new drug. Yet for the past couple of years we have watched as other countries have approved its use for all whilst England, Wales, Northern Ireland and Scotland have refused it to all those other than the most severely affected (SMA types 1).

‘SMA is a rare muscle wasting condition which affects the ability to walk eat and ultimately breathe is the leading cause of it infant genetic death and those of the most severe form of SMA are unlikely to live to see their second birthday’ (www.pbiforum.net/mag/events/biogen-scoops-prestigious-industry-award-for-spinraza)

I’m not a scientist and may not have this entirely correct but this is my understanding. SMA is a condition where the body doesn’t produce enough proteins to allow the motor neurons to work properly. It means the message doesn’t get through properly to the muscles to make them work. The proteins are supposed to be made by what is called the SMN gene but it just doesn’t work properly. However the body has a back up gene, a bit like an understudy, but this can usually only produce about 10% of this protein. Spinraza allows this back up gene to produce more of the essential proteins meaning the motor neurons work better so giving more strength to muscles.

It’s impossible to try and predict what will happen for those being given spinraza. Certainly the initial trials have shown that the very young children with SMA type 1 are not just exceeding life expectation but meeting many of their developmental milestones.

So what does this all mean for Anna? Certainly it means a lot of invasive medical treatments and general anaesthetics, neither of which Anna is keen to have. There are possible side-effects and many trips to hospital. But potentially it could give her more strength. More strength in ways that she may not recognise at the moment but which are so important now for her future. More strength in her lungs which means that respiratory infections don’t have to become life-threatening. More strength in her spine to hold herself upright and possibly delay or even prevent the development of scoliosis. And more strength to allow her to do the day-to-day things that we all take for granted – pull a tissue out of the box, take the lid off a pen, wipe a glue stick across a piece of paper or similar apparently trivial actions but so important in terms of her independence and quality of life.

We are truly grateful to all those in the SMA community who have fought for this and there is excitement as we start this new journey.

I’ll keep you all updated

Ann Marie

X

CAUTION RADIOACTIVE MATERIAL — My Thyroid Cancer

Yesterday I swallowed a small pill containing 3700 MBq (mega becquerels) iodine 131 and became radioactive. This is (hopefully) the last part of my treatment for thyroid cancer, following my thyroidectomy earlier in the year. This ‘remnant ablation’ is to mop up any stray cancerous thyroid cells. They love iodine and so having starved myself […]

via CAUTION RADIOACTIVE MATERIAL — My Thyroid Cancer

Anna is home

3 days of ‘aggressive physiotherapy’ (their words not mine) has done the job. The X-ray on Thursday showed that Anna’s lungs had cleared significantly and so today she has been allowed home. I’ve to continue with a physiotherapy plan at home (cough assist, huffs and bubbles) and she remains on antibiotics. She has once again come through a ‘significant event’. Thank you as always to everyone who has helped Xxxx

Good news, bad news…

The good news is that over the weekend Anna’s oxygen levels improved. She was able to come off additional oxygen on Sunday night and her respiratory rate was much better. On Monday morning she was much brighter, obviously feeling a lot better. When the doctors reviewed her in the morning it was suggested she may only need another night or two in hospital. However, after a lung x-ray later in the day the news was not so good. Her lungs were still showing a lot of infection and also what appeared to be a mucus block in the upper part of her left lung causing a section of lung to have collapsed as there was no air getting through the mucus block. All plans to come home abruptly stopped. Nebulisers and nasal suction became a part of the twice daily physiotherapy sessions. The plan is now to have another X-ray on Thursday and see how things are.

Apart from the nasal suction, which she hates, Anna is tolerating it all pretty well. The hospital teacher is coming each day and Anna has been visited by the Clown Doctors, tricky Ricky the magician, the music man and a dance group. She even let me take some pictures!

And whooping cough too…

Anna has whooping cough. The combination of that with the pneumonia means she is feeling really unwell and needing a lot of respiratory support.

I’ve learnt a lot about whooping cough, or pertussis, in the last 24 hours. Although the vaccine is given to all children as part of their early year immunisation programme, the effect of the vaccine wears off over time and so children and adults can still get it. So despite a full vaccination programme there are still a significant number of cases of whooping cough in the community, but generally not diagnosed as it can present in a similar way to a normal cough. Anna has been diagnosed because she has been tested in hospital but children aren’t routinely tested if they see their gp. The ‘whoop’ is often heard in babies but not necessarily in children or adults so what seems like a long lingering cough could actually be whooping cough.

It’s a notifiable disease so once public health are made aware of a case letters will go out from school.

Anna is well enough to be sitting up in bed or wheelchair during the day but the constant coughing and nausea means she just feels rubbish. And not surprisingly, bored and grumpy.

Her oral antibiotic, clarithromycin, makes her feel sick but her anti-emetic medication, ondanstron, makes her feel sick when she takes it as a liquid so one of the nurses sourced it in a tablet form. She remains on IV antibiotics as well.

Her oxygen levels are still low, especially overnight, so she is having additional oxygen. Her lungs continue to be full of infection and she is having physio input once or twice a day. I’ve taken in our cough assist machine to use in hospital and today for the first time they used suction through her nose to try and remove some of the mucus. Poor Anna.

The only plus side is that whooping cough means she has to be in isolation so she is in a room rather than out on the ward so she now has a tv. It’s a small comfort in the scale of things.

I think Anna’s hospital stay might be longer than we thought.

X

24 hours later…

Anna has steadily improved and is much better, although still unwell.

Her oxygen saturation levels, which were the main cause of concern last night, improved steadily through the night. She had to have a face mask on constantly when I finally went to bed. The oxygen flow was initially 15 litres, by morning it had reduced to 6 litres and then to 0.5 litres. Her temperature was down to a more acceptable level, as was her heart rate.

There was still a concern that there might be fluid on her lungs which would require a drain (and general anaesthetic) so she was nil by mouth all morning. She had an ultrasound around 11am and the radiographer confirmed there was no fluid. Just lots and lots of infection.

By mid morning she was declared fit to leave HDU and go into a normal ward.

Tonight she is settled and ready to go to sleep. She is still on 2 different antibiotics, anti emetics and pain relief. She has watched 2 dvds, several hours of Netflix and had her nails painted by one of the nurses.

I think she will remain in hospital until early next week but she is clearly improving and getting better.

X

Pneumonia. Again.

It’s 1.30am and I’ve left Anna in the care of the staff in the high dependancy unit at sick kids to try and get a few hours sleep up in PJ’s loft (parent’s accommodation).

Our arrival at A&E this evening was sudden and unexpected. Anna has had a bad cough for over 3 weeks and there have been ups and downs but she seemed over the worst and was in really good spirits when she left for school this morning. Over the 3 weeks, she has been on antibiotics, used her cough assist on a regular basis and tried hard to clear the phlegm that has built up in her lungs. However it just hasn’t been enough. She felt unwell at school this afternoon and developed a temperature of 39 degrees soon after arriving home. She was extremely nauseous (due to all the mucus and phlegm going into her stomach) and not wanting to eat or drink. She wanted to go to bed straightaway and didn’t ask for her electronic device. Both actions are completely out of character and enough to cause concern. I called the GP, who arrived out at the house 20 mins later and within the hour we were on our way to sick kids. We were seen fairly quickly and sent for a lung X-ray. Things speeded up after that (supporting my new theory that the worse things are the quicker the nhs response).

Doctor’s descriptions of Anna tonight have included ‘a very sick child’, ‘very poorly’, ‘really very unwell’. We’ve spent most of the evening in the A&E emergency room, with constant doctor/consultant presence, as Anna has needed significant oxygen and various monitorings since arriving early this evening.

Tonight’s X-ray shows the left hand side of her lungs almost completely infected with pneumonia. The out of hours physiotherapist has been called in to try and help clear the build up in her lungs and the out of hours radiographer was called in to do a lung ultrasound. She has got a cannula in her hand and had bloods taken and tested.

She has received 2 different IV antibiotics, an anti emetic and is currently receiving fluids. She is taped up with both heart and oxygen monitors which are both giving readings causing some concern – low oxygen saturation levels, high heart rate and high respiratory rate. She has been nil by mouth since arriving as it looked like the fluid build up on the lungs might require a drain, and presumably a general anaesthetic. However, the ultrasound results show little fluid but a lot of infection

Everybody as always has been wonderful with her but sometimes explaining to the parent what is going on during a ‘significant event’ is the last thing to happen. It was clear from the fact that we were in the main emergency room that it was serious but I’ve had to ask for information, specifically ‘is this treatable?’ and later, ‘is she improving ‘. Without these questions I don’t know how worried I need to be (the answer was yes to both). She has certainly caused a lot of concern tonight but all the signs seem to show that she will recover.

Anna’s own comment is ‘this has been a really bad day’. I agree completely. X

Happy Mother’s Day

Happy Mother’s Day

https://mythyroidcancer778732997.wordpress.com/2018/03/11/happy-mothers-day/
— Read on mythyroidcancer778732997.wordpress.com/2018/03/11/happy-mothers-day/

Anna’s care

Anna’s care

https://mythyroidcancer778732997.wordpress.com/2018/02/25/annas-care/
— Read on mythyroidcancer778732997.wordpress.com/2018/02/25/annas-care/