Swedish MPS Society MucoPolySacharidoses

1. Swedish MPS SocietyMucoPolySacharidoses Genzyme Nordic Nurse Meeting In Stockholm the 7th of November 2007 LSD Patient-panel Presentation by Veronica Hübinette Chairman of the Swedish mps society & Pediatric nurse at Drottning Silvias childrens hospital in Gothenburg

2. This presentation will bring forward different aspects of MPS from different perspectives • What causes MPS • What is the natural history of MPS disorders • Treatment options • MPS from a childs perspective • MPS from parents perspective • MPS from a society perspective • MPS from a nurse perspective

3. What causes MPS disorders • A genetic defect causes enzyme deficiancy • Mucopolysacharidoses is used for building connective tissue • When MPS can´t be broken down it gets stored in cells. therefor it is called lysosomal storage disorders • Storage happens mainly in organs where there is a lot of mucopolysacharides, like liver, spleen, heart, airways, bones and cartlidge etc. • The children are born healthy but with time the child will deteriorate

4. MPS sjukdomarna • Disorder named after numbers in Sweden • MPS I, Hurler, Hurler Scheie, Scheie 7 • MPS II, Hunter 6 • MPS III, Sanfilippo 12 • MPS IV, Morquio 5 • MPS VI, Marateaux Lamy 2 • MPS VII, Sly 0 • 32 MPS children are diagnosed in Sweden • Hunters disorder can only affect males and are inherited via the carrier mum • The other disorders can affect both males and females and occurs if a carrier mum and a carrier dad have children

5. Symptoms in severe kind of Hunter and Hurler Progressive problems • Mental retardation, (hydrocefalus, seizures) • Impaired hearing, hearing aid • Heartproblems leaking heartvalves (arythmia) • Impaired lungfunction, narrowing of the airways, enlarged tounge • Coarse facial features, coarse hair, • Enlarged liver and spleen umbilical hearnia ljumskbråck GI-symtoms • Poor teeth enamel, small teeth widely spred • Anaesthetic risks, difficult to intubate • Contractures and stiffness of the joints, Short stature, Carpal tunnel syndrome, clawed hands, Pain • Skeletal deformity like:Gibbus, Spinal deformity, Poorly formed pelvis, Abnormal clavicles & ribs, Hip dysplasia, Knock kneesmainly in Hurler needs a lot of surgery • Corneal clouding, light sensitivity, only with Hurler • The children often die before ten if they have severe Hurler and around eleven if they have severe Hunter

6. Hurler children who have had BMT

7. Hunterbarn

8. Sanfilippobarn

9. Morquio

10. Maroteaux Lamy

11. Treatments • Bonemarrow transplant • Enzyme replacement therapy • In the future Genetherapy, Substrate reduction therapy, chaparones

12. A childs perspective of MPS • The disease takes a lot of time from the normal life • You look different, • Struggle with communication • Difficult to move freely and reach things • Pain and difficulties to breath and swallow because of storage • Exercise and stretching is important • The future?

13. A childs perspective of MPSExaminations during one year for a child with mild form of Hunters • Cardiologist - Ultrasound ECG cykle-ECG 2 • Spirometri- lungfunction 1 • Neurologist -X-ray MRI brain and neck 1 • ENT dr Ear nose and throat –tubes, Hearingdr 3 • Audionom- hearingaids 3 • Physiotherapist- walktest jointmesurement stretchprogram 8 • Eyes -sight 1 • Dentist- teeth have to be pulled out 2 • Dentalhygienist-poor enamel 3 • Endocrinologist-growth 3 • Orthoped-joints and skeleton 1 • Handsurgent- carpal tunnel syndrome 2 • Enzyme replacement treatment 4 hours every week 52 • Days at hospital and habilitering etc per year 82 days/year = approx.2 days/week • Physiotherapy at home 250 days /year Surgery up till 12 years of age Tubes put in ears 4 times Heart; closing of ductus once Hands; carpaltunnel both once Pulling out teeth 2 times, plus removal of cysts in the mouth

14. Parents perspective of MPS • Diagnos anxiety and the future • When deterioration occurs it causes new crises • little knowledge about the disease leaves parents witha lot of responsibility • Lonely • Time consuming

15. MPS from a patientorganisations perspective • Raise awareness about MPS Educate • national centers • diagnosed earliy • Connect families to each other for support • be a link between the research and the families, • We meet with the other MPS organisations around the world. • newsletters and familyconference • Access to treatment for all our children

16. MPS society goal: Earlier date for diagnosWho could have diagnosed the children if they knew the symptoms.

17. MPS Society goal. Access to treatment Arguments; The cost • Why is enzyme therapy so expensive • Think big, MPS children will generate high costs in healthcare if you can´t stop the progression of the disease they might need a lot of surgery and they might need to be admitted to the hospital long periods because of pneumonia etc They will eventually need assitance hospice shortstay homes home adaptation etc. If the child needs tracheostomi for ex he will need assistance 24 hour per day which is also very costly • Enzymeeplacement therapy can make it possible for two parents to work fulltime and pay taxes. And in best case make it possible for the patient to start working instead of needing pension and hopefully he will not need so much healthcare and aid • You don´t just treat one patient you treat his whole family • Because the disease is so rare if will always only be a handfull of patients who will need treatment with orphan drugs, which means that it will never be noticeable in the large healthcare budget.

18. MPS Society goal: Access to treatment Arguments; compare costs • Andra mediciner kostar också mycket pengar - Blödarsjuka 1-1,5 miljoner/patient och år (vid antikroppar kan kostnaden flerdubblas) - Fabry 1,8 miljoner/patient och år - Gaucher 2 miljoner/ patient och år - Pompe 2,5 miljoner/ patient och år - TNF Alfa medicin mot reumatism 200 000/patient och år • Ett vårddygn på en barnmedicinsk vårdavdelning kostar 8000kr/dygn 2,88 milj/år • Att ha assistent 100 timmar i veckan kostar 1,2 milj /år • Västra Götalands-regionen kasserar läkemedel för 250 miljoner/år

19. MPS Society goal. Access to treatment Arguments;National funds • To be able to follow the EU constituions about orphan drugs there should be national funds like in most other countries • If the same pediatrician who is responsible for the budget also is the one who will decide if the treatment indication is the correct one, there is a risk that the decision will not be objective. Pediatricians should have the possibility to follow all the regulations and not be pressured to to take the budget into consideration • It there is a national fund children will have access to treatment when it is approved and not have to wait for them to decide who will pay for it if anyone • If there is national funds individuals will not be caught in the middle and be judged by their weight or height • If there is national funds and national guidlines for treatment made by experts it will not be up to a single area or a certain dr to decide

20. MPS Society goal: Access to treatment Arguments; Enzyme therapyInternationally • England Irland USA Italy Spain Germany and Austria treat all their MPS I II and VI patients with enzyme. Turkey Schwizerland Belgium Polen and Hungery treat MPS patients but not quite everyone yet. It is embarrassing if Sweden can´t treat rare disorders like MPS when almost all the other countries do. • International expertis have now agreed that all children with MPS II should receive enzyme treatment, even those with CNS involvment • National expertis believe that the treatment indications for Kalle are very clear and will not take responsability for his health if they stop treating him. • The decision at Huddinge hospital is not a medical decision but an economical one and therefore it is a political one. • There has to be national guidelines for treatment of MPS so that treatment is not arbitrary or up to each individual doctors values.

21. MPS Society goal. Access to treatment Arguments; EU constitution about Orphan Drugs 141/2000 • 1. Vissa tillstånd är så sällsynta att kostnaden för att utveckla ett läkemedel för att behandla tillståndet inte skulle täckas av produktens förväntade försäljning • 2. Patienter som lider av sällsynta sjukdomar bör ha rätt till samma kvalitet på behandling som andra patienter. Det är därför nödvändigt att främja läkemedelsindustrins forskning, utveckling och försäljning när det gäller lämpliga läkemedel • 7. Patienter som lider av dessa tillstånd bör ha rätt till läkemedel av samma kvalitet, säkerhet och ändamålsenlighet som andra patienter. Särläkemedel bör därför genomgå det normala utvärderingsförfarandet • 11. Sällsynta sjukdomar har bedömts vara ett prioriterat område för gemenskapsåtgärder

22. MPS Society goal: Access to treatment Arguments; Priority groups in Sweden Priority group I out of 4 Vård av livshotande sjukdomar. Vård av sjukdomar som utan behandling leder till varaktigt invalidiserande tillstånd eller för tidig död. Vård av svåra kroniska sjukdomar. Palliativ vård och vård i livets slutskede. Vård av människor med nedsatt autonomi.

23. MPS Society goal: Access to treatment Arguments; Ethical principals in our healthcare in Sweden 1) Människovärdesprincipen, enligt vilken alla människor har lika värde och samma rätt oberoende av personliga egenskaper 2) Behovs-solidaritetsprincipen, enligt vilken resurserna bör satsas på områden (individer) där behoven är störst. 3) Kostnadseffektivitetsprincipen, enligt vilken en rimlig relation mellan kostnader och effekt, mätt i hälsa och livskvalitet, bör eftersträvas vid val mellan olika verksamheter eller åtgärder. Svåra sjukdomar går före lindrigare även om vården av de svårare tillstånden kostar väsentligt mycket mer. Det är oförenligt med de etiska principerna att generellt låta en människas behov stå tillbaka på grund av hans/hennes ålder, födelsevikt, livsstil eller ekonomiska förhållanden.

24. MPS Society goal: Access to treatment Arguments; Doctor/Hippocrates oath Mitt mål skall vara att vårda och främja hälsa, att förebygga sjukdom, samt att bota sjuka och lindra deras plågor utan att diskriminera

25. MPS Society goal. Access to treatment Arguments; Hälso och sjukvårdslagen (1982:763) 2§ Målet för hälso- och sjukvården är en god hälsa och en vård på lika villkor för hela befolkningen ….Den som har det största behovet av hälso- och sjukvård skall ges företräde till vården (lag 1997:142) 2c § Hälso- och sjukvården skall arbeta för att förebygga ohälsa

26. MPS Society goal. Access to treatment for all children. Arguments;Ethics • It is an inhuman situation to be a parent and know that there is a drug that can take away my childs suffering and probably make him or her live much longer, but not get access to it. Especially if the child has already recieved it and benefitted from it and everybody else gets it. • Euthanasia – (assisted dying) what does that mean? -Is it when you can prevent suffering and death and choose not to • You don´t choose which disease you will suffer from if it is a rare disorder or a common one. (All rare disorders are automatically expensive to treat) We have to treat all conditions in order for the citizens to feel secure • Justice and Equality demands from a society to treat all diagnosis no matter if it is rare or comman

27. MPS from a nurse perspectiveHow can a nurse best support and care for a family with MPS • Time of diagnos parents needs support maybe psychologist • Educate yourselves about the disorder ie sos; små mindre kända handikappgrupper, and help the parents advocate for the child and be aware of coming complications that can occur. • The child will have a lifelong relationships with the hospital, try and make the first visits a pleasent experience. Be the continuity and safety for the child at the hospital • Help put the parents in contact with patientorganisations so they can get support and meet others. Sos and Ågrenska kan help to find them • Be the spider in the web, help coordinate all the examinations and dr appointments, it can be a full time job to take your child to the hospital all the time • Make sure right dr is responsible for the child, maybe someone has a special interest in MPS disorders. It is important with rare disorders that we have national expertis in the area and maybe 2-3 centers in Sweden that all the children are connected to, so someone can get more experience and knowledge. Parents are often prepared to travel long distances if they can meet a dr who is familier with the disease. • Help create a team around the child, maybe there is a cardiologist or ENT dr who have meet an MPS child before