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Swedish MPS Society MucoPolySacharidoses

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1 Swedish MPS Society MucoPolySacharidoses
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 I am very happy to be invited to this seminar and to speak to collueges, because I believe you might be one of the most important tools when we try to improve the care and treatment availiable for MPS children. I am a nurse myself and work in an pediatric ward in the largets childrens hospital in Sweden Queen Silva childrens hospital in Gotheburg so I know that your job is often to coordinate and to be the spider in the web.

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 A genetic defect is the reasen that the body can’t produce one of the ten lysosomal enzymes which are normally responsible for breaking down mucopolysacharidoses Mucopolysacharidose is a long chain of sugermolecules used for building connective tissue and organ in the body. When mucopolysacharidoses can´t be broken down normally it gets stored in the lysosomes. These disorders are therefor called lysosomal storage disorders, there are about 40 different lds diseases. MPS are 6 of them. There are lysosomes in every cell but the erythrocyte. But 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 when more and more mps-molecules gets stored it starts to affect the cells and the organs and the child will deteriorate

4 MPS sjukdomarna Disorder named after numbers in Sweden
MPS I, Hurler, Hurler Scheie, Scheie 7 MPS II, Hunter MPS III, Sanfilippo MPS IV, Morquio MPS VI, Marateaux Lamy MPS VII, Sly 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 knees mainly 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
They are all doing very well, if they had not been BMT they would have looked very different. The skeleton still gets deformed and they need surgery and some might have a little bit of learning disability but BMT is the best treatment for Hurler so far, it does supply the brain with enough enzyme to develop normally or close to and it cures and prevents most other effect that the disease would have had on all the other organs.

7 Hunterbarn The difference between the mild and the severe form is huge and there is a spectrum of everything in between. You can be physically quite well but mentally very affected or the other way around, or worse both menatlly and physically very ill.

8 Sanfilippobarn There are four forms of Sanfilippo A B C D. Sanfilippo mainly affects the brain while the body can be quite unaffected. Many are diagnosed very late and often they get diagnosed with ADHD at first because they become very overactive at first before they start to loose cognitive skills. They can also have very severe sleeping problems and ordinary sleeping pills will not work, melatonin probably works the best. Later they become passive and loose there ability to talk walk and swallow They might have coarse hair and bushy eyebrows hernias otitis asthma hipproblems GI symtoms etc They don´t often live longer then 25 years

9 Morquio Morquio have two forms type A and B A is more severe
They have normal intelligens and normal facialfeatures Slightly enlarged liver some hearing and sight impairment but very severe skeleton deformity. The ligaments are lax and the joints can be overmobile often they have pains i the hips. Their stature is often very short around cm They have a deformed cervical spine which cause a big risk if they slip when it can cause paralysis There are major risks involved during anaesthesia if the neck is bent backwards. They often have to stabilize their neck with a fusion in order to prevent accidents that can cause paralyzis

10 Maroteaux Lamy Much like severe Hurler but with normal intelligens, comes in mild and severe forms BMT is an option but enzymetherapy is also available.

11 Bonemarrow transplant Enzyme replacement therapy
Treatments Bonemarrow transplant Enzyme replacement therapy In the future Genetherapy, Substrate reduction therapy, chaparones BMT can only be done in Hurler and Marateaux Lamy and have to be done before 24 months of age to save the intellect and most of the organs. Enzymtherapy is now available for Hurler Hunter Marateaux Lamy and is given as an infusion once a week unfortunatly the enzyme dont penetrate the blood brain barrier and cannot help CNS But the children stops deterioatte, We hope that genetherapy will cure our children in the future but it still sems to be some time away still. Substrate reduction therapy and chaparones are other ways to either break down mucopolysacharidoses or to make the residual enzyme more effective, much research is also done in this field.

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? The disease takes a lot of time from the normal life and from school, which makes it difficult to catch up in school and with friends You look different, in some cases so different people will turn around and stare. -Will anybody want me when I grow up- Struggle with communication because of impaired hearing and sight Difficult to move freely and reach things because of stiffness and short stature and you can´t keep up with your friends when they run around and play Pain and difficulties to breath and swallow because of storage You have to exercise and stretch because of stiffnes and maybe wear ortoses at night You have a progressive disorder and without treatment you will get worse and die early, this awarness might cause a lot of anxiety

13 A childs perspective of MPS Examinations 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 It is very difficult to coordinate the different appointments and it is never possible to see the doctors after school.

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 Recieving a diagnos that your child has a progressive disorder and will suffer and die early often causes ”crisesreaktions” and anxiety. The future becomes very uncertain because you don´t know how slow or fast the progression will be. You watch your child deteriorate and loose cognitive and physical skills and every time this happens it causes new sorrows and crises. Because the disorders are so rare there is often little knowledge about the disease which puts a lot of responsibility on the parents to know everything and all the complications that can occur. That puts a lot of pressure on the family. Since the disorders affects most organ the family can meet 10 different dr who asks them what MPS is because they have never heard of it so half of the consultation consists of the family having to inform the dr. This does not make the family feel very secure or be able to trust the healthcare systems or doctors Many families feel very lonely in this, you don´t know anybody in the same situation and the doctors have never met anyone before. It takes a lot of time going to the hospital for all the checkups and treatment it is difficult to work full time which means that you also suffer economicly. And trying to coordinate all the appointmenst also takes a lot of time.

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 Raise awareness about MPS Educate physicians, families, the society etc To make sure the children get the best treatment and no complications occur. We have made patientbroshures about the different disorders and about the anaesthetic risks Rare disorders should be cared for at national centers and not be handled by pediatricians in small villages with no experience or knowledge about MPS The children should be diagnosed earliy so that BMT or ERT will work better before to much damage is done by storage. We hope for national screeening of MPS Connect families to each other for support As a formal organisation we can be a link between the research and the families, and we can raise money to support the research we find the most important We meet with the other MPS organisations around the world for strategy planning and inspiration. It is the MPS organisations who organize the MPS worldconferences with around 1000 delegates. We send out newsletters twice a year and organize a familyconference every other year and families from all of Scandinavia are welcome to join us Access to treatment for all our children

16 MPS society goal: Earlier date for diagnos Who could have diagnosed the children if they knew the symptoms. The disease is easy to diagnos, just a simple urinsample, someone just have to come up with the idea. The child has often been to many of these doctors several times before they got diagnosed. IF they would have known of MPS they would have been diagnosed earlier. We hope for neonatal screening via the PKU test in the future so the children can get a BMT or enzyme before to much damaged is done to theit bodies

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. Why is enzyme therapy so expensive? Like all other medicines it has taken years to develop and costs 1-10 billon swedish crones, this development cost will know be shared between maybe patients instead of several hundred thousand in each country. It is also complicated to produce

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 /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 VAd vill vi använda våra skattepengar till, vad vill vi prioritera Man får ca 300 m Motorväg för ett års behandling dvs. för 10 miljoner och 1,5 mil för 50 års behandling. Det kostar i snitt kronor att ha en ”lätt” intern på vanlig anstalt/år, de tyngre fångarna kostar mycket mer, många är också utländska medborgare som skall utvisas direkt efter straffet. Ett JAS plan kostar mellan miljoner kronor beroende på utrustning

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 Tänk att bli bedömd utefter sin kroppskonstitution att man inte kan få medicin pga att man är för tjock eller för lång tur att Kalle är en cool vältränad kille, tyvärr har han blivit ovanligt lång 172cm pga att Huddinge tidigare gett honom tillväxthormon han väger därmed 2-3 gånger mer än den genomsnittlige Hunterkillen det är anledningen till att Kalle inte nu får medicin Vi anser också att det bör finnas ett takpris på medicinen från läkemedelsbolags sidan

20 MPS Society goal: Access to treatment Arguments; Enzyme therapy Internationally
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. hur många och vilka som behandlas ser olika ut i de olika länderna England: Everyone with MPS I, MPS II, and MPS VI, is entitled to funding US: Treatments are available to all once approved by the FDA Funded either through private insurance or the government if no private insurance Italy: All on treatment 40 MPS I, 48 with MPS II, 12 with MPS VI Spain: MPS I 20/22 on ERT (2 BMT), MPS II – 17/21 on ERT, MPS VI 5 on ERT Turkey: 1 MPS I on ERT, 6 with MPS VI on ERT Germany: MPS I – 26 on ERT, MPS II – 30 on ERT, MPS VI – 30 on ERT Austria: MPS I – 1/1 on ERT, MPS II 10/17 patients on therapy (others beyond or being evalutated), MPS VI 1/1 on ERT Switzerland: 12 MPS II approval been given for funding, 2/2 MPS VI on ERT Ireland: 6/7 MPS I on ERT, 1/2 MPS II on treatment, MPS VI 3/3 on ERT Belgium: MPS I – 7 BMTor ERT, MPS II – 6/12 on ERT Hungary: MPS I – 4 on ERT Poland: 15/15 with MPS I – on ERT, MPS II – 0/38 patients on ERT, MPS VI 3 start ERT

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 miljoner dollar dvs 3-7 miljarder svenska kronor kostar det att utveckla ett läkemedel, vid sällsynta sjukdomar skall den kostnaden delas på kanske bara 400 personer. För att klassas som särläkemedel skall det vara väldigt ovanliga sjukdomar som är mycket allvarliga där ingen annan behandling skall finnas 5. …Som lämplig tröskel betraktas en förekomst hos 5/ personer. Läkemedel avsedda för livshotande, svårt funktionsnedsättande eller allvarliga och kroniska tillstånd bör dock kunna anses vara särläkemedel även om tillståndet förekommer hos fler än 5/10 000

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. sedan 1997 finns en allmän prioriteringsregel i 2 § hälso- och sjukvårdslagen indelade i fyra prioritetsgrupper efter angelägenhetsgrad, (Inom prio ett faller MPS sjukdomarna som uppfyller alla kriterier)

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. Enligt riksdagsbeslutet bör prioriteringar inom vården baseras på en etisk plattform som består av tre grundläggande principer nämligen: Människovärdesprincipen är överordnad de andra principerna

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 Care and promote health, prevent illness, cure the ill and ease their pain without discrimination Man väljer att inte förbygga sjukdom Eller att lindra plågor diskriminerad har Kalle blivit dels då tre andra landsting betalar men inte Stockholm, dels för att han är tyngre och därmed för dyr då medicinen betalas per kg kroppsvikt

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 Olika landsting i Sverige ger olika vård och behandling Man får olika vård beroende på vad man väger Treatment and care on equal terms Prevent poor health Man har nu möjlighet att förebygga ohälsa och försämring av sjukdom med ny enzymbehandling men väljer av ekonomisk skäl att inte göra det

26 MPS Society goal. Access to treatment for all children
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 The first questation to be asked is not how much does the treatment cost or will it be to expensive for our clinic This is a much larger questation a philosophical one about what kind of a society we want. The money issue is subordinated. We have money to what we want to spend them on it is a questation of values. But there will have to be a new system in place the orphan drugs should not be paid from the budget of the clinic.

27 MPS from a nurse perspective How 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

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