DuchenneMuscular Dystrophyin Adults

Dr Emma Husbands

Consultant Palliative Medicine

GHNHSFT

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

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

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.

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

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 14-18

years. Respiratory problems lates

teens onwards Scoliosis may exacerbate this

Improvements in Prognosis

Corticosteroids

Respiratory Support NIPPV Cough assist Trachaeostomy

ACE-Inhibitors, Beta blockers

Spinal Surgery

Nutritional support

Exercise

Gene therapy…….

Problems for Adults Cramps/spasticity

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

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

Family pressures Care often falls to parents Young men may want/struggle to achieve

independence

Life will be limitedWarrant a holistic

approach

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

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……

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

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?

THE ICPCN CHARTER OF RIGHTS FOR LIFE LIMITEDAND 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.

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.

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

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.

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

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

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.

Remove NIPPVSudden 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

C 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

Becoming an adulthttp://www.bristol.ac.uk/norahfry/research/completed-projects/becominganadult.pdf

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.

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.

“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.”

(Soanes & Timmons, 2004; ACT et al, 2001).

Young people need:continuity and familiarity to be prepared for changeany new service to be flexible and account for

individualitygood quality support along with staff showing

that they care (with kindness, or understanding, for example).

C

Explained what advance care planning is but not covered it

Put in touch with specialist OT Found some ‘adventure’ holiday options Email contact given Reviewing 3mthly

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!

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

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!