1. Duchenne Muscular Dystrophy in Adults
Dr Emma Husbands
Consultant Palliative Medicine
GHNHSFT

2. Overview of Duchenne
Issues in transition
What can adult Pall Care offer?

3. Muscular dystrophies
Group of muscle diseases characterized by progressive weakness, defects in muscle proteins, and the death of muscle cells
1860’s Guillaume Duchenne described boys who grew progressively weaker and died in their teens.
Named after him
It soon became evident that the disease had more than one form.
Now over 50

5. DMD Facts DMD affects mostly males at a rate of 1 in 3,500 births.
100 boys w/ DMD are born in the United Kingdom each year.
There are about 1500 known boys w/ the disorder living in the UK at one time.
60% inherited
X-linked recessive
1/3 have family history
30% spontaneous mutation
Most severe and common type of muscular dystrophy.

6. DMD is characterized by the wasting away of muscles.
Due to deficiency of the muscle protein Dystrophin
Diagnosis in boys usually occurs between 16 months and 8 years.
Parents are usually the first to notice problem.
Without intervention, average age survival 19yrs
Improved use of respiratory support can see survival into 40’s
This presentation will discuss a form of muscular dystrophy called Duchenne muscular dystrophy. Duchenne muscular dystrophy is a genetic or hereditary muscle condition; characterized by progressive skeletal muscle weakness, defects in muscle proteins, and the death of muscle cells and tissue.
In DMD, absence of the dystrophin protein weakens the connections between all of the proteins in the muscle and the cell membrane. Eventually the cell membrane becomes weaker and ruptures. As a result, particles, such as calcium, can move in and out of the ruptured cell membrane. As calcium moves into the muscle cell, it will cause contraction at the damaged site and muscle fibers will break. When this is severe enough, the muscle will begin to waste away. (1)

7. Clinical Features
Increase in serum CK (creatine phosphokinase) levels up to 10 times normal amounts.
Wheelchair bound by 12 years of age.
Scoliosis common
Cardiomyopathy at years.
Respiratory problems lates teens onwards
Scoliosis may exacerbate this

8. Improvements in Prognosis
Corticosteroids
Respiratory Support
NIPPV
Cough assist
Trachaeostomy
ACE-Inhibitors, Beta blockers
Spinal Surgery
Nutritional support
Exercise
Gene therapy…….

9. Problems for Adults Cramps/spasticity Respiratory problems
Magnesium supplements/quinine/G&T
Respiratory problems
Likely on NIPPV or approaching it
Potential consideration for trachae – implications for care
Cardiac arrhythmias
Continue ACE-Inhibitors/Beta Blockers
Swallowing difficulties
May have/need PEG
Could try prokinetics

10. Increased incidence of mental health issues
Low mood/depression
Anger/frustration
Desire for normality
Learning difficulties in 5% of patients.
Verbal memory can be impaired, possibly exacerbated by hypercapnoea
Disengagement with medical services by families is not uncommon

11. Warrant a holistic approach
Family pressures
Care often falls to parents
Young men may want/struggle to achieve independence
Life will be limited
Warrant a holistic approach

12. With increasing survivorship, now entering adulthood and less practical to remain under paeds services
Can be a sense of abandonment when entering the adult healthcare word……
One paediatrician their whole life

13. Why Get Us Involved?
Neurology support often time-limited and possibly regional
Locally, we can provide a specialist link which can react as needed
Condition remains life-limiting
just a bit less limiting than before
Practical care needs
Respite services are lost
Supportive care needs……………
Patient
Family
Advance care planning needs……

14. J
17yrs old DMD
Admitted to adult resp ward with chest infection, type 2 resp failure
Also c/o reflux/nausea/constipation
Often missed OPA’s as a kid
Known LV dysfunction, non compliant with ACE -Inhibitors
Referral from team to explore discharge planning

15. On ward, family present 24/7 Parents clear on admission, J present
Do not want active intervention – requested DNACPR, no to ICU
Paeds cons popped to say hello to patient on their own
J not sure about DNACPR – paeds cons revoked and suggested discussion held – left that to us!!!!!!
WHO’s CHOICE?
WHAT CHOICE?

17. THE ICPCN CHARTER OF RIGHTS FOR LIFE LIMITED AND LIFE THREATENED CHILDREN
The child’s parents or legal guardians shall be acknowledged as the primary care givers and recognised as full partners in all care and decisions involving their child.
Every child shall be encouraged to participate in decisions affecting his or her care, according to age and understanding.
The child and the family shall be given the opportunity to consult with a paediatric specialist with particular knowledge of the child’s condition where possible, and shall remain under the care of a paediatrician or doctor with paediatric knowledge and experience.

18. The child and the family shall be entitled to a named and accessible key-worker whose task it is to build, co-ordinate and maintain appropriate support systems which should include a multi-disciplinary care team and appropriate community resources.
The child’s home shall remain the centre of care whenever possible. Treatment outside of this home shall be in a child-centred environment by staff and volunteers, trained in palliative care of children.
Every child and family member, including siblings, shall receive culturally appropriate, clinical, emotional, psychosocial and spiritual support in order to meet their particular needs. Bereavement support for the child’s family shall be available for as long as it is required.

19. ACP in Transitional Population
Parents will protect their children
Hard for them, they may be used to being in control
Reality checks over what is on offer
Young people with MD have different life experience
And remember they are teenagers
Want ‘normality’ and independence
Sex and drugs and rock and roll
Fears they cannot mention to parents
Meeting young adults in a crisis is not great
Constant discussions/building relationships

20. Patients rarely wished to discuss the later stages of their disease.
Analysis of an adult Duchenne muscular dystrophy population A.E. PARKER1, S.A. ROBB, J. CHAMBERS, A.C et al. Q J Med 2005; 98:729–736
Patients rarely wished to discuss the later stages of their disease.
Death was often more precipitate than expected
In some, there was a clear progressive deterioration of ventilatory function.
Death usually occurred outside hospital.

21. J CPR was medically not indicated given reserves and overall decline
The outstanding issue was option for trachae
Agreed J would not want to ‘wake-up’ with a trachae on ICU
Did not rule out option for planned procedure
We also tweeked his meds
Erythromycin 250mg bd for gastric prokinesis to aid reflux and bowels
PRN oramorph, buccal midazolam
Parenteral meds available

22. Settled period of several months
Went home with NIPPV
ACP in place, OOH alerts, anticipatory meds
At college so needed liaison with them
Settled period of several months
One DV, t/c f/u
Case conference at college due to absences
No admissions
Then acute decline, mum felt J dying, paeds hospice team supported, happy for me to review, arranged but died day before seen peacefully at home, on NIPPV.

23. Remove NIPPV Sudden death common
If the norm for patient does it matter to die on NIPPV?
Not routine to discuss planned discontinuation
If request to remove
Plan
Ensure adequate sedation to avoid distress
Likely IV, pall med team might be able to help with this is community

24. Had been a late diagnosisC
22yr old DMD
Had been a late diagnosis
family felt they had always done the leg-work
Parents very wary of our involvement
Minimal symptoms
Main issues
Keen to do stuff
Linking in with Douglas House
Should he exercise? If so where/how?
Would be happy for hospital admission if needed but pleased with reviews at home

25. Becoming an adult http://www. bristol. ac
Qualitative study focussing on what it’s like to live with Duchenne and become an adult.
Interviews throughout 2007 and 2008, involved 40 young men aged 15 to 33 who have Duchenne (and their families) from three regions of England – West Midlands, South West and North East.

26. Living with Duchenne can be a hard thing to talk about.
“In everyday life I don’t think about it much.”
“Sometimes you talk about it and sometimes you don’t. I’m not bothered about talking about it though.”
“I live with it everyday. I know what I need to know. I’m not really interested.”
When people did want to talk about it, they usually talked to parents or friends but it wasn’t always easy. Some people said it was hard to talk to their parents because they wanted to protect them; they didn’t want their parents to get upset.

27. “I said I didn’t want to see lots of different doctors all the time
“I said I didn’t want to see lots of different doctors all the time. The last thing I want is seeing a load of doctors who depress me with bad news! But I thought I’d better see someone, so I asked who would be the most use and I went for the respiratory consultant.”
“You need continuity and you need a person who you can be friends with before you’re going to tell them things.”

28. (Soanes & Timmons, 2004; ACT et al, 2001).
Young people need:
continuity and familiarity
to be prepared for change
any new service to be flexible and account for individuality
good quality support along with staff showing that they care (with kindness, or understanding, for example).
(Soanes & Timmons, 2004; ACT et al, 2001).

29. C Explained what advance care planning is but not covered it
Put in touch with specialist OT
Found some ‘adventure’ holiday options
contact given
Reviewing 3mthly

30. What I have learnt so far…..
One size will not fit all
If verbal processing is difficult, we may need to alter formats of discussion.
Not simply young adults
Different life experience
Families cannot be removed
Building a rapport is often key
Parents add another dimension!

31. As ever, emphasis on education
around what our role is
Referral may be for advance care planning but this may not be what is needed/addressed
around the advances in Duchene for adult physicians

32. Joint clinics with paeds?
Community aspect of our role helps
Neuromuscular co-ordinators invaluable
Specialised commissioning will hopefully improve access to cough assist etc
MDT working – what we do best!