Spinraza and SMA by Jonathan Smith

Individuals with SMA experience a loss of motor neurons - the nerve cells responsible for the generation of impulses which produce movement in the limbs and body - in the spinal cord. This is due to a genetic defect affecting the SMN1 gene which produces the Survival Motor Neuron Protein (SMNP). Over time, insufficient levels of SMNP lead to a decline in the number of motor neurons within the spinal cord, resulting in a loss of movement, muscle weakness, and reduced function and independence. Individuals with SMA retain some movement due to the presence of a less powerful version of the SMN1 gene called SMN2 (Scientists like to keep things simple!)

“...so far, Spinraza has managed to satisfy the criteria for safety and effectiveness”

Spinraza, when injected directly into the central nervous system, effectively converts the less powerful SMN2 gene into SMN1, which produces normal amounts of SMNP and therefore prevents loss of motor neurons and the functional issues that come with muscle weakness in SMA. For anyone feeling confused at this point, that’s the science bit over, and the outcome is that this is ‘so far, so good’ for Spinraza as a treatment for SMA! Therapeutic drugs have to pass through a multitude of hoops before they can be approved for license to use on actual human beings and, so far, Spinraza has managed to satisfy the criteria for safety and effectiveness.

So much so that in December 2016 it was granted approval from the Food and Drug Administration in the USA for use in SMA, and additional funding was provided. An article published in the Lancet in 2016 demonstrated the effects of Spinraza on a group of SMA infants <7 months old, noting improvements in motor function and survival rates in the majority of participants.
http://thelancet.com/journals/lancet/article/ PIIS0140-6736(16)31408-8/abstract)

Socialising when you have a Chronic Condition by Karen Pritchard

M aintaining friendships is such a rewarding experience, but living with a Chronic condition and pain can be very difficult.
Friendships play such an important part in people’s health and well-being. It can be very difficult to find opportunities to make friendships, so socialising and getting out and about is vital to our well-being.

It takes much confidence to find opportunities for friendship or social groups to join. We feel a need to play a part in society. It is so important to be given the same opportunities to make friends as everybody else.

Although it’s difficult to remain positive on bad days we must learn to turn to friends as a source of support. More often than not they can relate to our problems. At the other end of the spectrum – resolving conflict can seriously help our pain as the more we worry and stress, the more distressing pain is. Letting people know your limitations can also help as if you can’t do something, at least they understand the reasons. Most importantly be kind to ourselves and try to embrace the positives .....

Living with chronic pain can be tough both physically and emotionally. It is easy to skip activities like visits to the gym, swimming that uses up vital energy which we may need to store for other daily tasks. However, any exercise has many benefits and has been
shown to reduce pain perception, increase mobility, improve strength and balance and even reduce stress and tiredness.

For parents, it can be difficult to let your child out from your protective care and their safety bubble, but it is so important that they get out, make friends, and experience as much as they can. MD can sap your confidence - if you let it - and before you know it, you’re stuck at home. I’ve been there. Have a read of some of the things our readers of One Voice get up to - with a bit of planning, anything is possible. Don’t forget, you’re not alone - you’ve got the NMC community who will help and support you if there’s something you want to do but don’t know where to start.

A Centre user describes..... “My friends knew something wasn’t quite right but they didn’t dare ask me as they didn’t think I was ready to talk about it. When eventually I did tell them, I discovered they’d been really worried behind my back - because they care - no other reason. They didn’t leave   and run away like I thought they would - the opposite in fact.”

“I find by being out and about, people stare at me. That was my worry about being in a chair. But I soon realised it was rarely out of pity (which I assumed it would be) but out of ‘good on you getting out and about’ kind of inspiration. We are all unique and have many gifts and talents - sometimes we forget.”

Complimentary Therapy by Beverly Langley

Beverley Langley, our complementary therapist, has increased her days at NMC and now is available on Wednesdays, Thursdays and also on alternate Tuesdays to provide complementary therapies and manual lymphatic drainage to our patients and carers. We have also purchased a Hivamat machine that is used for the treatment of oedema. Beverley also has a notice stand in the lounge area to show any available slots for the day.

Please note that all treatments for service users, staff and carers are free of charge. Treatments currently offered are massage, aromatherapy massage, reflexology, and manual lymphatic drainage.
Please contact Beverley on: 07756 853 089.

Physiotherapy Department by Gill Storey

The builders have now left us and the new extended NMC is completed. During the 9 months of building work patients, carers, physiotherapists and others have worked side by side, and not a single day of treatment has been lost which is quite remarkable.

The physio department has doubled in size and we now have a new specialised adapted gym and an extra treatment room. We have recently employed two new graduate physiotherapists in order to maximise the use of the new department and gym. This means that we will be able to provide more active exercise to a wider range of patients, increase the amount of first assessments we see and also the number of regular appointment slots.

The fundraising team have successfully sourced funding for new disability access equipment which includes:

• A wheelchair accessible rower
• 3 assisted arm and leg cycles
• 2 exercise bikes
• A seated crosstrainer (that you can be hoisted into)
• A standing crosstrainer
• Wii for balance and weight distribution
• Theraband resistance station
• Cable weight station

In the future we are planning to train a physiotherapist to do cardiopulmonary classes at the centre to be able to improve the heart and lung fitness of our patients. The training is accredited and approved by the British Heart Foundation.

Spinraza and SMA

Spinraza (INN Neurinosen) is a drug produced and marketed by Biogen. It is the first pharmacological therapy ever to be given broad approval for use in the treatment of Spinal Muscular Atrophy (SMA).

Individuals with SMA experience a loss of motor neurons - the nerve cells responsible for the generation of impulses which produce movement in the limbs and body - in the spinal cord. This is due to a genetic defect affecting the SMN1 gene which produces the Survival Motor Neuron Protein (SMNP).

Over time, insufficient levels of SMNP lead to a decline in the number of motor neurons within the spinal  cord, resulting a loss of movement, muscle weakness, and reduced function and independence. Individuals with SMA retain some movement due to the presence of a less powerful version of the SMN1 gene called SMN2 (Scientists like to keep things simple!) Spinraza, when injected directly into the central nervous system, effectively converts the less powerful SMN2 gene into SMN1, which produces normal amounts of SMNP and therefore prevents loss of motor neurons and the functional issues that come with muscle weakness in SMA. For anyone feeling confused at this point, that’s the science bit over, and the outcome is that this is ‘so far, so good’ for Spinraza as a treatment for SMA!
Therapeutic drugs have to pass through a multitude of hoops before they can be approved for license to use on actual human beings and, so far, Spinraza has managed to satisfy the criteria for safety and effectiveness. So much so that in December 2016 it was granted approval from the Food and Drug Administration in the USA for use in SMA, and additional funding incentive was provided.

An article published in the Lancet in 2016 demonstrated the effects of Spinraza on a group of SMA infants <7 months old, noting improvements in motor function and survival rates in the majority of participants (http:// thelancet.com/journals/lancet/article/PIIS01406736(16)31408-8/abstract)

Glycogen Storage Disease (GSD) support group

People attending the NeuroMuscular Centre have numerous, but typically rare conditions. There are other focused support groups that offer something different and complimentary to the NMC. One such group is the Association for Glycogen Storage Diseases UK.

The group was formed thirty years ago in 1986 by two mothers who both had a child with a rare Glycogen Storage Disease (GSD) The group has grown over the years and has funded early research in to treatments and therapies. The Association is run, informed and supported by its members and they aim to provide a warm welcome to anyone diagnosed with a GSD including McArdles and Pompe . As with many neuromuscular conditions, the chances are they have had a long and difficult journey to diagnosis. The group has a Pompe Support Team, a group of people with Pompe who are willing to provide a listening ear or talk about common experiences. For more information visit www.agsd.org.uk.
Wins

Benefits ofRowing Machines by Karen Pritchard and Sanjay Vaja

The health and fitness benefits of rowing machines are much the same as those of water-based rowing, with a few bonus benefits that shouldn’t be overlooked.

Improves Cardiovascular Fitness 
Whenever you perform sustained exercise that increases your heart rate and breath volume, you’re working on your cardiovascular fitness. Rowing is great for the heart and lungs because it engages every major muscle group. That, in turn, requires your heart to pump more blood to your working muscle tissue delivering energy and nutrients to your cells while buffering away waste by-products, including carbon dioxide and lactic acid.

The body is incredibly efficient, and doesn’t like to exert itself, so when forced to work harder than it’s used to, it makes physiological adjustments so future exertion feels easier. When your heart pumps and you breathe harder, your body adapts so that the next time it feels a little easier. Just like that, you’ve improved your cardiovascular fitness.

Increases Total-Body Muscular Strength and Endurance 
Muscular strength and muscular endurance are two different things. In a nutshell, muscular strength is how much weight a particular muscle group is capable of lifting in a single effort – much like a single bench press. Muscular endurance, on the other hand, is how much weight a particular muscle group can lift repeatedly over time. For instance, how long you can ride a bike up a steep incline.

When rowing (as with swimming), you can increase both your muscular strength and muscular endurance because you’re repeatedly pushing and pulling against resistance for the entirety of your workout, spurring physiological adaptations that future exertion feels easier. That said, by increasing resistance over time, your muscles will grow and develop, becoming stronger.

What really makes rowing stand out is that it works your entire body. During the drive phase you’re engaging the major muscle groups of your legs first, then your core, and finally your upper body and back.

Low Impact 
As long as you maintain good form, rowing is easy on the joints. Because your feet remain in contact with the foot pads and your hands keep contact with the handles, there’s little to no impact being placed on the ankles, knees, hips, elbows or shoulders, all of which are prone to injury. This also makes it an appropriate form of exercise for those who are nursing an injury, or who feel physically uncomfortable during weight-bearing exercises.

A rowing machine is available to use here at the NeuroMuscular Centre, just speak to one of the physios and they will advise you and to ensure you’re using it properly. Rowing is an excellent form of exercise, but it’s not without risks. Poor form can result in injury, particularly to the lower back. And, as with any form of exercise, start slow    and work your way up.

Benefits of rowing here at the NMC
I enjoy using the rowing machine here at the centre. I first started to really get into it for Muscle Month. I feel much better in myself, uplifted and motivated, once I have completed my time on it. I started slowly and worked my way up on it. Rowing also helped me lose some weight which was a pleasant surprise!

Hand Washing - A Timely Reminder

Basic hygiene, and in particular hand washing, is not the most exciting thing to talk about, but with cold weather approaching,  and all the bugs associated with it, it seems fitting to remind everyone to be clean-conscious.

Winter vomiting virus can be very serious, and unfortunately cannot be eradicated  by hand gels/wipes etc.  Good cleanliness and handwashing is therefore extremely important.
There are various web-sites available to explain the procedure for hand-washing (just ask ‘Google’), but the basics are: 

• Wet hands completely
• Soap using any type, but plenty of it!!
• Wash hands thoroughly.  You should continue washing for approximately 20 seconds, and a good way of estimating this is to hum the tune ‘Happy Birthday’ twice.  Parts often missed are the back of thumbs and wrists. 
• Rinse all soap off.  If you are particularly concerned, or you have been ill,  turn off the tap using a paper towel.
• Dry thoroughly.

The NMC asks that everyone, including patients, staff and visitors, should be symptom-free from diarrhoea and vomiting  for 48 hours before they attend. Coughs and colds are also a big problem, particularly for those who already have compromised breathing or immune problems and so you are asked to bear this in mind when you attend. 
If you are in any doubt, then contact the NMC for advice, and please let them know with as much advance warning as possible if you wish to cancel an appointment for any reason.

Keep Strong Bones

Vitamin D helps to keep bones and teeth strong, and improves bone density.

It also reduces the incidence of falls in older people In fact, vitamin D plays a major role in the absorption of calcium and phosphorus, and in their proper utilisation.

We get most of our vitamin D from sunlight on our skin. The vitamin is made by our body under the skin, in reaction to summer sunlight. However, if you are out in the sun, take care to cover up or protect your skin with sunscreen before you turn red or get burnt. Many people can’t understand how vitamin D can be so good for so many different things. Most of the cells in your body, including brain, heart, blood, muscles, bones, liver and kidneys have special receptors for taking in vitamin D when needed, not just bones. That is why the benefits of optimum vitamin D are so diverse. In each case, those receptors are there for a reason, but the reason is different for each type of cell because each cell is specialized for a particular kind of work. If a cell is able to access vitamin D then it performs optimally. If not, it just has to manage without and do the best it can.

Vitamin D is a powerful anti-inflammatory agent, which may also contribute to its effectiveness in reducing some types of muscular pain. Older people with high vitamin D levels lose their muscle mass more slowly than those with low vitamin D levels.

Being severely deficient for a few months may affect your well-being in areas such as:
• feeling depressed
• poor resistance to infections
• increased pain, especially in bones and muscles
• increased inflammation
• feeling tired and sleepy during the day

Not everyone with vitamin D deficiency experiences all of these symptoms. In fact, some people are not aware of any symptoms at all. But even if you have no symptoms, a vitamin D deficiency still increases your risk for many serious conditions.

The symptoms of vitamin D deficiency can be very subtle, and may only worsen gradually over many years. And all of these symptoms can have other causes.

If you notice any of these symptoms – which may be worse in winter when vitamin D levels are at their lowest –  It is always best to consult with your GP if you have any concerns.  There are some rare conditions which can make you hypersensitive to vitamin D
• primary hyperparathyroidism
• sarcoidosis
• granulomatous diseases
• lymphoma
• histoplasmosis
• leprosy
• coccidioidomycosis
• some cancers.

If you have one of these conditions you will be under a doctor’s care and should only take vitamin D if it is prescribed for you.

If you suffer from kidney disease you also need to be careful about taking vitamin D, because of the danger of kidney stones. The reason for this is that vitamin D is a powerful hormone with far-reaching effects in the body. It can affect medications, treatment plans and dosages.
Actually you don’t need to remember these specific conditions, because there is only one general rule to remember:

Don’t take vitamin D if you are being treated for any condition by your doctor, without consulting him/her first.

Hydrotherapy Study - Carley Davies

Having volunteered at the NMC since January, I became involved in helping out in the Wednesday Hydro sessions.

A keen swimmer myself, I really enjoyed assisting, but most importantly, seeing the positive benefits of the hydrotherapy for people with neuromuscular conditions and muscular dystrophy. The physical and psychological benefits were clear to see, and I wanted to investigate the effects further. Consequently, when it came to choosing a research topic for my Masters dissertation, I chose to study the physical and psychological effects of hydrotherapy.

Upon researching the topic, I found that hydrotherapy provision on the NHS is very limited, particularly for people with long-term conditions, and particularly for adults. I found that there were plenty of studies demonstrating the effects of hydrotherapy for people with arthritis, for elderly people, and those with MS and fibromyalgia, but not for people with neuromuscular conditions.

Hopefully, by doing this study I will be able to demonstrate the benefits, and (should the work be published), promote this effective therapy to the NHS and GP’s. My study will consider the acute (that is, immediate) effects of the sessions on participants at the NMC. I have almost completed the data collection with my eight participants, and will hopefully be able to show the impact that it has. My research has involved physical and psychological tests (in the form of questionnaires), and when I have my results, I will be keen to share them with One Voice!

Alert Cards

Muscular Dystrophy UK has created condition-specific alert cards for different muscle-wasting conditions. These new cards mean that people living with muscle-wasting conditions and their families will have the security of knowing they can easily inform emergency health care professionals of the vital and specific issues that affect children and adults with these conditions.

Alert cards are conveniently shaped to fit inside a wallet and outline key recommendations and precautions that health care professionals would need to know during a time of worsening health.

To make sure the cards are effective they cover a wide range of possible symptoms and situations. The card also includes important contact information on a person’s specialist neuromuscular and respiratory teams, which will ensure expert advice will be much easier to access.

They currently have alert cards covering ten conditions. For more information and to find out how you can get a Muscular Dystrophy alert card visit http://www.musculardystrophyuk.org/ alert-cards/

Do you need to be Red Flagged? by Karen Pritchard

Do you have adrenal insufficiency or are you a pituitary patient who takes hydrocortisone? If you are then contact your local ambulance trust to Get Red Flagged on their system. If you ever call 999, you will be flagged for priority attendance by a vehicle carrying emergency hydrocortisone.

Adrenal crisis is life threatening.  I had a crisis and it was very frightening - this is why it is so important to be red flagged as a safety precaution.

How to get Red Flagged, E-mail the Pituitary Foundation for a fact sheet on how to do this: emily@pituitary.org.uk or telephone 0117 370 1310 for advice.

Health and Well Being

During these winter months it is really important that we all keep as fit and healthy as we can. It is important that people with disabilities, particularly those with compromised respiratory function are protected as much as possible against flu and pneumonia. 

Flu Vaccination
 Flu is a common illness that is highly infectious and in some people it can develop into more serious illnesses as bronchitis and pneumonia. It can also make medical conditions worse. 

You can protect yourself against flu by having a vaccination against it. As the strain of flu changes from year to year, last year’s vaccination will not protect you so you need to be immunised each year. It is also advisable that your family, carers and PA’s receive the annual flu jab. 

Pneumonia Vaccination
 Pneumonia is another important vaccination that people in vulnerable groups, including those with compromised respiratory function need to be protected from. If you are over 65 then you are entitled to a one off Pneumonia vaccination. If you are under 65 then you should check with your GP/ Consultant. You will need to clarify how often you need to vaccinated.


For more information on the Flu and Pneumonia vaccinations please speak to your GP. 

*****HEALTH ALERT *****

*****PLEASE, PLEASE KEEP US ALL WELL!!!*******

If you or the person who brings you to NMC (a family member, friend or PA) are unwell then please do not come to the NMC. 

Please do not spread your germs as we are a very vulnerable community. If we become ill, it can have quite serious consequences.

If children are off school due to illness then please do not bring them into NMC. 

As much as we’d love to see you, we do not want your germs! Coughs, colds or bugs can make our community very unwell and it can take us longer than most to recover.

Thank you for your support and understanding in this matter

  ******************************************

Ambulance Service

Did you know that you can red flag your address for the Ambulance Service? This enables them to send the correct ambulance and personnel to you, when you need it.