1. Elaine Murphy Charles Dent Metabolic Unit London
ALD Life 2018
Elaine Murphy
Charles Dent Metabolic Unit
London

2. “purposeful, planned process that addresses the
What is transition?
Transition
“purposeful, planned process that addresses the
medical, psychosocial and educational/vocational
needs of adolescents and young adults with
chronic physical and medical conditions as they
move from child-centred to adult-oriented health
care systems.”
Transfer
Blum RW, J Adol Health 1993:14

3. Transition: an ongoing process
Aims
Optimal health for the young person
Take on responsibility for their own health
Maintain engagement with health services
Why
To enable young people to achieve their health,
educational, social and financial potential

4. Nurse
School
Parent
Child
Dietitian
Paediatrician
Psychologist

5. Nurse
School
Parent
Young adult
Dietitian
Paediatrician
Boy / girlfriend
Psychologist

6. Moving hospital…..

7. Why are adult services different?
Focus on independent living
Parental / carer control vs patient control
Discuss adult issues (smoking, alcohol, drugs, sex)
Life assurance
Driving licence
Further education
Disability allowances
Employment
Fertility, pregnancy and inheritance

8. Different Perspectives: Parents as Proxies of Adolescent Reports
50% of parents of adolescents with arthritis (n=303)
either overestimated or underestimated their child’s
Pain,
Disability,
Global well-being,
Quality of life
(Shaw KL, Southwood TR, McDonagh JE et al, 2006)

9. Some advice: The first appointment
Parents
Don’t talk over or interrupt your child
Try to take a back seat
Be positive before the appointment
Young adult
Bring your medications
Bring a list of your current doctors or other medical professionals
Answer as best you can – it is not an exam!
You have from years to ask questions – write them down if you wish

10. Big words! Very long chain fatty acids Gadolinium enhancement
Leukodystrophy
Myelin
Peroxisomal
X-linked
IFR
Myeloneuropathy
White matter change

11. Schluter, A. , Real-Chicharro, A. , Gabaldon, T. , Sanchez-Jimenez, F
Schluter, A., Real-Chicharro, A., Gabaldon, T., Sanchez-Jimenez, F. and Pujol, A. (2010) PeroxisomeDB 2.0: an integrative view of the global peroxisomal metabolome. Nucleic Acids Res, 38, D

12. Aim for the AMN / ALD transition service
Smooth transfer from paediatric to adult service for all patients in the UK
GOSH/CDMU Queen Square:
Joint clinic appointment (X4 transition clinics per year with CDMU)
Comprehensive summary referral letter
Endocrine, post-HSCT follow-up as required

13. Strengths of the AMN / ALD service
Shared metabolic laboratory facilities
(VLCFA done at GOSH)
Consultant contracts across both hospitals / Trusts
Joint weekly laboratory and teaching meetings
Experienced neurophysiotherapy on site

14. Weaknesses of the AMN / ALD service
Limited experience among haematologists with HSCT and post-transplant follow-up for adults Access to ongoing physiotherapy, occupational therapy, probably not as easy in adult services Psychology support available No easy transition pathway for social, educational or employment needs

15. What to expect – adult services
All new patients
Genetic confirmation
Discussion around condition, prognosis, management
Discussion of inheritance (PGD and IVF, antenatal testing)
Role of family screening

16. What to expect – adult services Recently referred after childhood HSCT / monitoring
Men
Regular examination (signs of AMN)
Annual brain MRI (if no HSCT), neurocognitive assessment
Regular (annual) short synacthen test, other bloods

17. I’ve had my HSCT, why do I still need to come to clinic……..?
Growth issues
Gonadal dysfunction
Thyroid dysfunction
Specific effects of medications used
Psychological effects

18. What to expect – adult services Recently referred with AMN
Men
Short synacthen test on diagnosis (and perhaps for a few years thereafter)
Neurophysiotherapy referral – orthotics, FES, wheelchairs etc.
Bladder / bowel / erectile dysfunction review (Neuro-urology / neuro-gastroenterology)
Annual brain MRI (and neurocognitive assessment)

19. What to expect – adult services Other support
Clinical psychology / psychiatry
Nurse specialist and dietitian support if needed
Queen Square Young Adult Group