Mr. Denis Azzopardi, Secretary General of EAMDA and Chairman of the Muscular Dystrophy Group of Malta, welcomed all present. He wished a successful workshop, the first from series of three workshops, which EAMDA is organising in the near future. Mr. Azzopardi introduced Dr. Antoine Vella, the animator of the workshop.

Medical situation in Malta by Dr. Antoine Vella – MDG (Malta)

Dr. Antoine Vella MD.MRCP (UK), Medical Advisor of the Maltese Muscular Dystrophy Group gave his presentation on Ventilatory Support in Duchenne Muscular Dystrophy Clients in Malta. Within the Muscular Dystrophy Group of Malta there are 4 patients with Duchenne MD, 2 with Limb Girdle MD and 1 with Charcot Marie Tooth who are on ventilatory support. Average Age when Duchenne Muscular Dystrophy Clients started on ventilation was 17 years. Reasons for commencing nasal ventilatory support are: Post-chest infection (ventilation started whilst in hospital); Symptomatic hypercapnia (morning headaches and “cloudy” feeling); Dyspnoea and problems with retained secretions

Mortality Data

	Ventilated	Non-ventilated
Passed away	3	7
Average age	21.6yrs	18.4yrs
Passed away at home	100%	50%

As per the above table, reasons for not having ventilation were: 2 because there was no any at the time; 2 because of sudden congestive cardiac failure and 3 because the patient/family was not keen on ventilators. The patient’s problems related to ventilation are: Initial problems until adjustment; Dry mouth / dry eyes / irritation of nasal mucosa.; Bloated ness / flatulence; Difficulty communicating / call for help; Often housebound; Anxiety attacks; Rash; Psychological dependence; Constipation; Problems with secretions and mask induced pressure sores.On the other hand the carer’s problems related to ventilation are: The need of supervision especially nocturnal; Anxiety; Technical fear and the lack of domiciliary support. Problems related to the machine itself are: Failure / unavailability of parts; Power cuts; Ill fitting masks and limited back up machines. Problems related to ventilation in hospital are: The lack of a fully functional multidisciplinary team especially for adult patients; Lack of sleep-lab for nocturnal studies and the lack of a proper unit in the hospital for commencing ventilation or dealing with its problems.

At the end of his presentation, Dr. Antoine Vella asked the following questions:

• Is the ventilators support we are giving at the moment just Palliative treatment?
• Should we ventilate earlier if we wish to affect longevity with a decent quality of life?
• Which is the best route to ventilation?

In his opinion there is need of: Earlier ventilators studies; Team assessment with a view to prepare patients and their family electively for the possible future need of ventilation (patients and their cares must be psychologically prepared for this); Multidisciplinary team set up with home support; Sleep lab facilities; Better ventilator back-up / power packs; Informing patients about power cuts; Specialized unit / staff in new hospital; Data collection and documentation especially quality of life indicators.

Conclusion

“I feel that the results achieved with ventilator support are promising especially because of the improved quality of life reported by the patients. However we need to move on since this is only a start”.

Ms. Alison Formosa B.Sc. (Hons), Physiotherapist from the CDAU of Malta, gave a general picture of the procedures, which are usually taken by the Physiotherapy Department in Malta.

What is physiotherapy & what does it actually involve?

Physiotherapy is defined as the physical treatment or management of a condition. In neuromuscular disorders, it has an especially important role in helping to maintain and enhance, where possible, the child’s present level of function & mobility.

Its main aims are to:

1     Provide a physical assessment
2     Minimize development of contractures
3     Maintain muscle strength
4     Prolong mobility & function

In general the signs & symptoms are the following, denominated by the severity of the course & the particular characteristics of the disorder:

Symmetrical weakness of the proximal muscles- pelvic girdle muscles followed later by generalized progressive weakness in the area of the shoulder girdle & eventually progressing distally.

·        Delay in walking with a waddling gait & lordotic posture.
·        Tightness / Contractures- mostly at the ankles, knees & hips.
·        Difficulty in attaining a standing position from sitting/lying (possible Gower’s sign)
·        Inability to hop & difficulty climbing stairs
·        Frequent falls

The course & prognosis also vary according to disorder and its severity but finally the course results in:

· Progressive loss of function & power occuring as the muscle fibers is gradually replaced by fatty tissue.
· Loss of transfer ability, balance maintenance and ambulation
· Increasing deformity
· Tendency to respiratory infections in later years.

Physiotherapy occurs within the multidisciplinary environment. Contributing to a holistic assessment by the various components of the team, the physiotherapist’s assessment covers:

1. Muscle power

2. Joint range

3. Function

4. Spinal posture

5. Mobility/gait

6. Orthoses

7. Any Current Therapy & exercise

8. Home & school

Physiotherapy

Treatment is based on the results of the assessment, aiming to:

-         Minimize development of contractures
-         Maintain muscle strength
-         Prolong mobility & function

The above is achieved through:

Exercise Therapy, Hydrotherapy, Respiratory Exercises, Postural Care, Stretching, Orthoses & Serial Casting.

Exercise

Regular exercising with or without resistance helps maintain the child’s strength, mobility and balance. This prolongs the ability to use the child’s muscles, which have an increased tendency for atrophy through disuse. The muscles commonly vulnerable in neuromuscular disorders are usually those that control the hips, knees, shoulders & the trunk (except for particular disorders such as facio-scapulo-humeral dystrophy)

Hydrotherapy

There are various therapeutic & physiological effects that occur during warm water immersion & due to the physical properties of the water itself. Besides, most children love water and find it a change from exercising on land. Also the loss of fear of falling, many times enhances cooperation. Furthermore group exercise can be done encouraging social interaction, support and motivation. And this can be done at any stage of the condition.

Benefits of Hydrotherapy:

-Promotion of Muscular Relaxation through bombardment of the sensory nerve endings, as well as the effect

of the temperature itself.

-Increase in ease of joint movement due to the warmth and the buoyancy of the water.

-Increase of muscle power & endurance due to the increase in resistance provided by the water (especially if

floats are used).

-Reduction of gravitational forces. Thus gait training can continue & strengthening exercises can be

continued well after they cannot be continued on land, maintaining balance & muscle tone. The forces may

also be varied according to the percentage of body immersed in water, thus offering a versatile ambient,

suitable to all body shapes and conditions.

-Improvement of Respiratory muscle function due to the hydrostatic pressure exerted on the chest wall and

abdomen during breathing. The water resists inspiration & assists expiration. This can be done in

conjunction with incentive spirometry or breathing exercises.

-Improvement & motivation of patient’s moral & confidence.

Respiratory Therapy

Respiratory problems in neuromuscular disorders are mainly the result of weakening of the respiratory muscles, namely the intercostals & associated muscles. If respiratory function is already severely compromised, the need for assisted ventilation arises. Rehabilitation includes passive chest physiotherapy including postural drainage as well as actual exercises such as DBE’s, FET’s (possibly combined as ACBT’s), incentive spirometry and hydrotherapy.

Postural Care

The child with a neuromuscular disorder is forced by his muscle weakness to assume unusual postures. Even when ambulant but most especially once w/c dependent, care & monitoring of spinal posture, assessment of sitting position, provision of jackets & day splints becomes especially important. Maintaining mobility as far as possible to prevent painful contractures, scoliosis & problems with sleeping & respiration becomes especially predominant at later stages.

Stretching

This is a simple technique used to stretch tight &/or shortened muscle tissues by slowly but firmly moving the joint as far as possible & maintaining the position for about 20 seconds.

The aim is to prevent contractures, tightness & deformities, which would lead to disuse as the child finds more & more difficulty to move that joint. (Knee & hip contractures are not common whilst the child is still ambulant)

The structures most commonly at risk are the Tendo-Achilles, the knees, hip flexors, hip abductors- IlioTibalBand, Shoulder, Elbows & Wrists

Self-stretching can also be taught to the child himself, by positioning the structure in question and allowing gravity & the weight of the limb itself to act as the stretching forces.

Orthotic Management

At one point or another in the course of a neuromuscular disorder, orthotics may be used.

The use of orthoses is:

- Control of deformity through reduction of contractures

- Aid balance & stability

- Promotion standing & mobility thus improving self-esteem

- Maintenance of spinal mobility & prevention of posture deterioration

Types of orthoses include: Night splints (such as AFO’s)- TLSO (Jackets) used to treat pelvic obliquity & spinal posture, KAFO’s- that promote ambulation after loss of ability to walk, DAFO’s/Insoles, Collars.

Serial Casting is a progression of casts that are applied to increase range of motion depending on the mobility status of the patient and the structure/s involved. It aims to:

- Improve / restore ROM & TA length

- Possible improve function- e.g. promote stability in standing or decrease difficulty in walking in the child

who is not particularly weak

- Improve confidence & reduce fear of falling

- Facilitate use of other orthotics, night splints or equipment

- Correct deformities. This aim can be used in conjunction with surgery. However, surgery in isolation will

stop ambulation. Early & intensive remobilisation after injury & surgery is essential.

In Conclusion

The role of physiotherapy in neuromuscular conditions is to complement the multidisciplinary team approach, by helping to maintain and enhance, where possible, the child’s present level of function & mobility through the use of Exercise Therapy, Hydrotherapy, Respiratory Exercises, Postural Care, Stretching and Orthotic Management.

Thus, physiotherapy can help by adding not only quantity but also quality to the life of the child and family

Reference List

www.muscular-dystrophy.org

www.enmc.org

www.sohp.soton.ac.uk/cardresp/ppp/acbt.ppt

www.pediatrics.wisc.edu

Hyde SA, Scott OM, Goddard CM & Dubowitz V (1982) Prolongation of ambulation in Duchenne muscular dystrophy by appropriate orthoses Physiotherapy 68(4): 105-108 April
Bates A & Hanson N (1996) Aquatic exercise therapy. Philadelphia: WB Saunders.

Situation in Denmark by Henrik Knudsen, person with Duchenne

Upbringing

• Family: Henrik Vestergaard Knudsen (HVK) born 7th of May 1973 in Roskilde where I’m still living. I am the oldest of three brothers where the two oldest of us have got DMD.

• N& K At the age of three in kindergarten, the first signs of DMD started to show - such as problems with stairs etc. At the age of 4 I started using a folding pram to get around when we were on trips. I was diagnosed DMD at that time. It didn’t influence my life that much.

• P.S 7-16. In August 1980 I started in an ordinary folk school. At that time in Denmark it was pretty new that physical disabled children could be integrated in ordinary schools. I had lectures in using a computer, instead of gymnastics that I obviously could not join. With the computer I was able to do my homework on my own. I got my first wheelchair at second grade. The 1st day I showed up with my wheels of wonder, my teacher had arranged a ride for each one of my classmates. A splendid idea as I never got teased for being disabled.

• B & C. As most children this age I was tired of school and on top of that I had a lot of fights with my father. The best solution was to get away for some time. I was in a boarding school for two years and it was at that time I got my first personal helpers. Ending boarding school with a junior college degree. Since then and up till today I have taken several courses among others biology, astronomy and philosophy.

• MFH. I got my own place at the age of 19. A big step, cause I got told at the age of 18 I should expect to wait for at least 5 years. It went fairly all right with the help of my parents. Today they live only a mile away.

How to live with Duchenne in Denmark:

• At the age of 2-4 the boys are diagnosed DMD.
• The parents get informed about “Muskelsvindfonden” (MF), the Danish organisation for neuromuscular diseases. MF primary goals are to improve the living conditions of people with neuromuscular diseases.
• Family courses are offered, questions and answers. How to live with …. NMD
• Special treatment such as physiotherapy is provided. MF had made it possible that all members and other kind off handicap groups could get free physiotherapy. This was after some pressure on the politicians. One of the reasons why was that the chairman at that time Evald Krog had seen to many cases where people had died from lack of physiotherapy.
• C-PAP equipment is off to maintain the lung capacity and to prevent pneumonia.
• Today all children with NMD are integrated in ordinary kindergarten and schools if possible.
• DMD´s are usually unable to walk at the age of 9-13.
• Then they get an electrical wheelchair with individual adjusted seat & steering to prevent scoliosis.
• Summer camps with children suffering from all kinds of NMD are arranged -the parents get off duty.
• When necessary they are rebuilding the family place with all necessary equipment for free.
• Corset and back surgery at the age of 13-19 if they develop scoliosis.
• Bi-PAP (night) 16 & the respirator (full time) age 17-18 are offered if necessary - not told to get one.
• When using respirator you get help around the clock - which is the law. You can’t resist.

Long and active living

MF- Muskelsvindsfondon:

It was founded in 1971. As mentioned earlier, they try to improve the conditions for the members. They offer courses for the family for whom it obviously is a great turn over in their life. They take action if you are not getting what is your legal right. Once a year institute of neuro-muscular deceases connected to MF examine the child to judge if you get the equipment needed and second how far the DMD has developed.
At the age of 8 families are offered to send their child to a summer camp for other children with neuro muscular diseases. It is an opportunity until you reach the age of 17. At the age of 15-35 you are welcome to join the so-called youth group courses. It is an offer that comes twice a year. The subjects can be about social law, how to be a better employer, drama, how to improve your self-confidence and how to get a sex life.

When you reach the age of 27 you can join courses made especially for adults.

• This year the institute of NMD made a new course especially for DMDs over 27 years. The oldest in this group is 42. One of the main things the institute wanted, was to catch up with old DMDs they haven’t seen since they were 18 and find out how their life has formed. Another goal was to help the DMDs to learn and experience from each other what is possible in life. What it means to have a good network and social life. A working party that I am a part of has now been set up to arrange the courses to come.
• The green concert: Besides contribution from the government and other foundations it’s a way the MF can make money without begging. It has been quite a success. They make an open-air concert tour in Denmark in 7 towns based on 500 volunteers. The performers get paid and Tuborg is the main sponsor. It has been around for 20 years. Members who want to assist are welcome - there is always a job for them.
• ”Slappendales”: In 1996 4 guys with NMD thought it could be quite a gimmick if they performed a strip show on stage around the country. The message was to show that the possibilities are there, even in a wheelchair.
• A respirator is essential to us alive.
• To maintain an active life we have our wheelchair with the respirator attached to it.
• Further on we get a special equipped car for a very low price that also is financed without interests. Over the years I have been able to get around almost all over Europe. It would not have been possible without my car.
• An example is the picture where I am on a trip to France.
• Musholm holiday centre. A place for holiday and courses - it was build by MF.
• Social life: as you can see I started racing an ordinary go-cart, further on I got my joystick-steered go-cart.
• Another hobby of mine is hockey. I have participated in tournaments in many countries in Europe i.e. Netherlands.
• When I was younger I enjoyed acting as you can see. It is no longer a hobby of mine.
• A´ka´sku - I can do it!!! It was a project, which was made to encourage young NMDs from 20-27 to get out of the cage and live a full life. Start believing in themselves. During the 2 years it lasted they tried a lot i.e. teambuilding. The biggest success was as you can see on the screen a performance based on Romeo and Juliet. It has been performed many times since then with success.

My future

• I am going to move into a new home when I get back to Denmark with my brother Søren and two friends.

Situation in Netherlands by Michiel Haverman, person with Duchenne

My name is Michiel Haverman. I am a Dutchman, but not the Flying Dutchman, a rolling Dutchman. I live nearby Amsterdam in a little village called Landsmeer. I am 21 years old.

I will talk about my experiences in Holland with a condition named Duchenne. And what I think is different with many other countries in Europe.

I was born at a hospital in the province city called Purmerend. My first couple of years there wasn't a big concern about me. Only that my development with walking, sitting up, etc was legging behind but that, the doctors said, will change. At my fifth year I went to a doctor who thought my differences with the other children was due to some malfunction of my brains. After a year or so I went to another doctor and he saw at first sight what kind of condition I had. They took a biopsy of my leg muscle and then they diagnosed Duchenne at my seventh year, in the year 1988.

This was of course a shock for the family. My parents got in to contact with the VSN, the Union of Muscular disorders of the Netherlands. The VSN is an active member of EAMDA. The VSN promote research, they help people to get in contact with each other. For example my parents go three times a year to a small meeting group to meet other parents who have Duchenne children. There they can talk and support each other. Also the VSN gives various kind of help and they have a website. There came a man from the VSN, who said what my future for me should look like. At that time children with Duchenne had a lifespan of 18 till 20 years.

Till the age of 9 I had big buggy to sit in for the big distances. Then at the age of 10 I begin to use an electric wheelchair.

In Holland you can get a wheelchair within six months, of course this if the indication is without doubt. This makes children more independent, they can go out and play with their friends and this makes life more enjoyable. At that time I was very pleased with my wheelchair because when I walked it was very tiresome and I fell a lot.

I had physiotherapy once a week at Wednesday. Here I had to walk or stand and stretch all my limbs otherwise they would get fixed.

When I was 12, I went to Heliomare, which is a very big organisation. It is a revalidation centre with also a school for disabled children. They have a primary school and a high school. I did the primary school at the regular school in my hometown. After the primary school I went to the high school at Heliomare. There they have smaller classrooms then usual so that the disabled children can get more attention and care. There are also revalidation doctors, physiotherapists, ergo therapists and social workers. So the disabled children and of course children with Duchenne have great care.
The revalidation doctors do many check-ups. In the revalidation centre Duchenne persons also get x-rays of the back every six months. If the back has a greater angle then 30 degrees then in most cases there will be a consideration: if the back must get iron pin in the back to stop the back from getting a great scoliosis. The organs, most of all the lungs, are getting less space because of a great scoliosis. Then breathing becomes harder to do and then you must rely earlier on respiration apparatus and you can get easier pneumonia.

The ergo therapist do many things to make life more easy. For example to help to request an electric wheelchair or a laptop if writing becomes more difficult to do. Because of the economic situation ten years ago was easier to get things from the Government then nowadays. At Heliomare the care is very great. At every province of the Netherlands there is a revalidation centre such as Heliomare.

Duchenne persons get many check-ups of the lungs. A good attention is taken to the fact of how much you can breathe in and out. The check-ups you get at the Centre of Home Respiration every six to one year in Utrecht. If you get headaches or you are tired and you have other complaints that has connection with a malfunction of the lungs you can get respiration apparatus. The doctor who is specialized at lung disorders talks first with patient who has Duchenne and if he decide to have a respiration apparatus, then the doctor talks with his parents. Then the patient gets first night respiration with a cap. At night breathing is more difficult.

In my case I got night respiration after 2 weeks in the hospital with an inflammation of the lungs. That happened in August 2001. So I have almost 1,5 year night respiration.
If you still have complaints with night respiration then you must get continuous breathing support. In most cases this happens with an operation of a canule or trachea. But nowadays there are people who have continuous breathing support with a big straw where the air comes through. You can eat or talk if you put the straw out of your mouth. This is very good development because with a canule the care of Duchenne becomes greater. But this development with the straw breathing support is in his early stage and I if you have much slime or you are not strong enough to get the slime away you must take a canule otherwise you cannot get the slime away. Since a year or so I have also a pair of bellows or as some people call it a ballooner. With the ballooner you get 2 or 3 pushes with air. This makes it easier to get slime away if you don't have a canule. Because if slime gets stuck in the lungs you can get pneumonia and that you must prevent at all costs.

We, persons with Duchenne in Holland, also get check-ups of the heart by the cardiologist. This is very good because the heart is of course the most important muscle of the body. Duchenne persons die most of the time of a malfunction of the heart. You get heart pills to help the heart beat easier. Duchenne persons in autumn get an injection against the flu.

There are also vast medical protocols in every big hospital how to treat a Duchenne patient and the protocols can be delivered to nurses, doctors, physiotherapist or any other medical specialist. So every Duchenne person can get the proper check-ups and treatment.

After school most of the Duchenne persons go to an Activity Centre. There they do things what they like most; many choose to do something with a personal computer. That is a great thing if you haven't got strong muscles. This pc was not there 10 years ago and then they had many less things to do. With the Internet, Duchenne persons can easily get and stay in contact and this also prevents them from isolation. And again makes life more enjoyable.

Some Duchene persons go studying after the high school. That is a big step and then you must go to a regular university or college what most of the time is less adapted for disabled people.

I did MAVO and then HAVO. With that diploma you can go to a college. I haven't done that. I work as volunteer for an Association of Amateur Theatre. I make a website for that organisation and other graphical work. I work 4 days a week. In my free time I am a lot online to chat and play games. I also play electric wheelchair hockey.

Now I shall say something about the differences between Holland and other countries, in my opinion.

I think a big difference is that Duchene persons in the Netherlands have many check-ups of the heart and the lungs. So in Holland if the indications are there, the doctors will intervene quickly. This makes them live longer. I don't know if many Duchene persons are living longer because of this, but it will make a difference.

Holland is also a rich country. This makes it more affordable to take care of people with Duchene. But there is also a system to make this happen. Good healthcare is I think the most important to make the life of Duchene easier and better.
Another great difference between Holland and other countries is the transportation. Disabled people can go to work, school and other places by special buses. Professional chauffeurs who are trained for the job drive the buses. Every one has the right of transportation in the Netherlands. This is paid by the health care.
We also got a kind of dole that makes disabled people more independent 700 euros each month if you live at home.
There are also special homes or apartments like Het Dorp, with specialized nurses. We have got also Focus houses where you can live single but you can call people to help you with all kind of things, such as cooking, washing, helping to bed. They take care of every Duchene person, not only the Duchene persons who have rich parents.

Personal experience by Daniel Krantz, person with Duchenne

My upbringing

I was born in Switzerland in 1980 and raised there till the age of 8.
My mother, sister and I moved to Malta due to my parents’ separation.
My father would visit us quite often.
My sister and I would go to visit him for a while during the summer.
The rest of my upbringing was in Malta.

My Personal Assistants

Starting from a very young age, my parents were very fortunate to be able to provide me with personal assistants.

Most of my personal assistants were from Sweden and were all very good, except for a few problems since this occupation is quite tough and it is a bit of a commitment from both sides.

The reason why it is tough is because they had to have a lot of patience and they were practically my second pair of arms and legs and they worked many hours, which sometimes affected the psychological side between us.

It was like we were a couple! It was like a relationship and like all relationships and like everything, sometimes it is okay and sometimes it’s not!

The good side is that we got feedback from each other and they got the chance to see life from my perspective and vice versa and I learned something new from each assistant.

I learned to really appreciate what I have, that I have been so lucky which some people have not been.

I made new friends, which I kept in touch with over the years.

Travelling

I used to travel quite a lot, which I really enjoyed.

It was so interesting to see all the natural beauty of the world and the differences between every culture.

When I was 17 I went to USA for approximately a year, which my parents thought, was a good idea just for a test to see how it was to live alone with my assistants. It was a real experience! It was quite tough after a while so I returned to Malta.

The best thing about the states was that it was really accessible for wheelchairs! But some of the people were quite superficial.

The Last Five Years

Over the last years my condition has become quite bad except I have accepted that fact and have tried to just move on with my life and enjoy the good moments and do as much as I can.

I have been using a ventilator, which has made me feel better, and it gives me more energy although I’m very dependent on it! It’s a great machine, which makes a difference.

The Conclusion

To conclude this presentation, I would like to say that life is a gift, which we should treasure and learn from.

It is also all an experience and no matter how we are as people or whatever problem we have, we should not let anything stand in our way!

Take care and live your life as good as you can!

Promotional Presentation APEX Lifts

Mr Kevin Vella introduced Mr Emmanuel Deguara of APEX Lifts who gave a promotional visual presentation to all present regarding lifts and other equipment, which can be used by disabled people. Dr. Antoine Vella thanked Mr Deguara for sponsoring part of the workshop and for printing the official programmes.

Workshops

The participants were divided in three groups and discussed the following questions:

Questions:

Invasive Therapy

a) What acceptance does Invasive Therapy find among people with Muscular Dystrophy?

b) Do all accept the concept?

c) What do the others do?