The MPS Journey Begins

By Margaret Sahhar

Since the time of our first MPS conference, information about MPS is both the same and changed - there are now real advances in treatment and neonatal diagnosis bringing realistic hope and choices for the future. The journey has changed for many. But for many, the beginning remains the same - a diagnosis of a condition that is new, and often unexpected.  A diagnosis described by one family as life altering. A diagnosis that means the journey has a definite end, with serious difficulties along the way.

For those of you whose journey has recently begun, it can be a bewildering and even confusing time. You will hear and read discussions on different aspects of treatment trials and options, some of which may not be relevant for your child.  Because MPS is a complex group of conditions, each specific diagnosis has differing outcomes, with different implications for life. However, families will find that within the MPS Society and at conferences, there is a sense of community, of shared concern one for the other, a sense of being a fellow traveller, to share the good times and the sad times and to give each other tips along the way.

You are the experts, and as professionals we constantly learn from you what to expect and how best to intervene in your journey. Over the years, I have been with many families at the time of diagnosis - standing beside them, not in their shoes but close by. My comments are based on these experiences, and I am grateful for the insights I have gained from all the families.

Diagnosis

The time of diagnosis is usually a time of shock, followed often by despair, fear for the future, loss of hope and expectation.  “Why me/us?” is a common question.   Often families will experience a feeling of disbelief, particularly if their child is functioning well – this can be followed by feelings of anger towards the professionals –

• “they must have got it wrong”

• “how dare they tell us this”

Some families go off to see other doctors, naturopaths, religious advisors, search the Internet - hoping and praying that this information is wrong.  Some families conversely may feel relief - they may have felt that something was wrong, but have been reassured by professionals, even told that the problem is theirs - that they are poor parents, over anxious.

It is a journey they do not want to start, and one for which they can not usually be prepared.

The implications can be profound - not only is a loved child given a diagnosis for life, the parents may need to consider changing their lifestyle and working patterns in the future should their child need increasing care.  Schools will need to be considered.  At a time when parents are struggling to deal with their own reactions to the diagnosis, they must also help siblings, extended family and close friends deal with this information. They must take in vast amounts of often strange bewildering information, consider the genetic implications for themselves and future pregnancies, for their other children who may be carriers. 

People feel that they have been given a different identity - that they are labelled, that they occupy a different place in the world than before the diagnosis.  Their child too can seem to have been replaced with a different child - a child with MPS instead of Johnny with blue eyes a big smile freckles and blond hair.  Johnny is of course still the same little boy but the diagnosis can take over.  

All these reactions vary from parent to parent.  They are normal and to be expected. However partners may experience feelings differently and deal with the information in different ways.  This can cause friction at a time when support is needed.  Partners can feel hurt and alone, although many people also can grow closer and pull together to overcome the adversity they are experiencing. 

People react differently, based on their past experiences – we all base reactions partly on how we have reacted in the past, if that reaction has seemed successful.  So some people want to withdraw, to even put the diagnosis aside, to deny it.  Others seek out information actively by searching the Internet, talking with other parents, travelling overseas to consult professionals, reading the literature - by being active.

Again all these responses are quite normal, and need to be tolerated in an understanding way by professionals. 

The Role of the Professional

Professionals have a duty of care.  There are 10 important aspects of professional contact at the time of diagnosis:

• to consider each family as individuals with a unique set of needs and way of responding,

• to consider the whole needs of the family not only their medical needs. A multi disciplinary approach is best

• to tolerate anger and to understand the many ways that people in a crisis or in distress may respond

• to stay with families in spite of difficulties, but to also recognise that a second opinion may be necessary, and that this is acceptable 

• to provide accurate information, in a sensitive way that encourages people to ask relevant questions (by the way ALL questions are relevant!) and to keep parents up to date with the latest information

• to be available when needed by families - after hours contacts are important

• to provide adequate resources for the family now that the diagnosis is made eg Carer Allowance, grief counselling, the contact details of the MPS Society and any other relevant support organisations

• to make sure that information is readily accessible to all members of the family - offer to write information, meet with other family members

• to ensure that parents are progressing and are supported; and

• to continue to monitor the practical and emotional resources of the family and refer to other resources if necessary.

What is important is for there to be a trusting relationship that is mutually respectful between professionals and families.  Without trust and goodwill, nothing will work -families will feel unsupported, be suspicious, search fruitlessly for new solutions and answers.   Families may cut off contact, denying themselves and their child valid resources.  Families can fragment, siblings start acting out and causing major problems at school in the community, to themselves.  

What a Family Has a Right to Expect

The are 11 primary expectations families should keep in mind.  Families should expect:

• accurate information given in a way that they can understand. Written as well as verbal information is helpful. Videos may be helpful;

• open and honest information at all times, and recognition that families have the right to know.  Professionals must not decide what families need to know, even with the best motives;

• the right to ask questions as frequently as needed to understand clearly;

• non judgmental acceptance of them as they are – individuals should never feel disadvantaged because of their culture their religion, their education etc;

• regular appointments with the chance for more frequent appointments if needed - uninterrupted time at appointments should be available;

• clear contact details with after hours contact mechanisms if possible;

• acknowledgement that this diagnosis affects the whole family, and that family members have the right to information and resources as appropriate, BUT only as is agreed to by the parents;

• acknowledgement that the diagnosis is more than a medical diagnosis, with appropriate referrals after discussion as needed;

• families will be acknowledged as the experts who will make decisions. Although based on professional opinions, their decisions may differ from the usual. They should be reassured that in spite of decisions contrary to perceived professional opinion, they will continue to receive unprejudiced professional treatment;

• they have the right to a 2nd opinion, facilitated by their medical consultant; and lastly, that

• professionals will tolerate and understand the diverse emotions expressed by parents and family members and will continue to provide a non judgmental and comprehensive service.

Margaret Sahhar is senior social worker at Genetic Health Services Victoria, with 30 years experience. She currently works in the MPS Clinic at the Royal Childrens Hospital, Melbourne, and also coordinates the Graduate Diploma in Genetic Counselling (University of Melbourne).  Her main area of social work practice has been with children with disabilities and their families.  She is committed to the importance of support networks such as the MPS Society, and has been involved since the beginning of the MPS Society.  She has attended MPS Conferences in Australia and overseas.  In 1998, Margaret, founded the Genetic Support Network of Victoria (GSNV) together with interested parents and others from genetic support groups.