In Memory of Pina Fornasier

My mother’s name was Giuseppina Balzan born on 19 March 1921. She died on 19 January, 2015.

She  married  my father, Antonio Fornasier, and they had 4 children, all boys, and I am the third one. She was a hard-working woman trying to manage such a big family with only one small income  from my father’s job as employee at a governmental office in my town. She was very good with cooking, washing, sewing and knitting, so we never had a problem being fed and clothed when growing up, although our family had to fight to survive financially each month. 

She loved music and she had a wonderful natural soprano voice that filled our house. She really did represent the famous Italian saying “Canta che ti passa” (Sing and forget about it). The more problems we had, the more she was singing and this is what she taught me first. She always defended me when my results at school were not so brilliant because I was playing in a band and singing around every week end. She always said: “Do not take the music away from Giorgio, because it is, and it will be his life!”

I remember how proud she was when I started performing the classical music and opera she loved and this is the last connection to the world she had when she was affected by Alzheimer's. Every time I visited her at the Home where she was in my town, I would start climbing the stairs to her room, singing her favourite romance and she would jump on the bed and open her arms waiting for me, as if she was on a stage. This is the image I have of her and I wish to thank her from the bottom of my heart for what she taught me about loving all people around me, especially those who are suffering. 

My son Daniele, with PWS, had a special place in her heart and he wanted to be with me by her side when she died. 

She was 93 years old, and had spent the last 20 years of her life living with Alzheimer's. 

She kept saying to me: “Loving each other does not cost anything!”

                                Ti amo, Mama,

                                Tuo figlio, Giorgio.

The Track Less Travelled

THE JOURNEY TO ADULTHOOD….

contributed by Anne Sakaris, Tasmania, Australia

As a child growing up in Tasmania I developed a love for the bush and had the opportunity to walk many of the wonderful tracks in our National Parks.  One of the things you need to be aware of and keep watch for, particularly on the less defined and trafficked tracks, are the poles or markers that have been placed on the trees in a way that will still be visible even with heavy snow falls.  They become familiar companions and at times are a comforting sight when the clarity of the track has deteriorated.  Causes could be wet or snowy weather, lack of definition because the territory is completely rock scree or boulders – or maybe it is simply “a path less travelled”.

As I reflect on my journey as a mother of 3 precious sons, the eldest (now 27) having Prader-Willi syndrome – perhaps it is not so unlike some of the walks I have taken over the years.

The PWS aspect of the journey is definitely a track less travelled.  It is great that there are so many more “markers” appearing on the track for mothers and fathers of the generations growing up today!  I am aware that the stage of the track where the transition is being made through to adulthood can at times become harder to make out - being a Mum who has been on the track for a while, and who tends to see things in ‘pictures’, allow me to share a few bush-walking analogies that I hope will be of encouragement in your journey:

The path that bridges childhood and adulthood can sometimes seem incredibly steep and the steps can require considerable thought and strategy before being taken.  Begin preparing for this part of the journey well before you have to.  Look well at the ‘map’ to see what the options are to safely make the summit/goal.  Be aware that for our children this is also uncharted territory, what they have known and managed in the past (on the plateaus that may have come before this climb) will be challenged by circumstances outside them but also by the strength of desire from within them to express themselves as adults in their own right.  Be prepared for turned ankles or grazed knees from misjudged steps.  Rest when you need to, when you are tired it’s so much easier to take a tumble.  Be patient with yourself, your young person and all of your family members – you are all on this climb and each one will need TLC in the way that fits best - we are all different.  Tag team with another trusted adult for the lead position – my husband and I often found we did this.  Sit down on the rocks sometimes, look back at the view and remind yourself of how far you have already climbed – encourage yourself that you are making progress!

Sometimes it can seem like the pathway has been filled up with tears – making it difficult to know where to step next.  As a mother (and I know this rings true for fathers as well) I have been aware that as the years and the stages have passed there has also been a sense of different layers of grief surfacing as well.  The recognition and working through of some of the areas of loss as a young adult are significant for our young people and also for us as parents.  We observe it in them and also have to struggle with the fact that in a sense we are causing some of their grief for the sake of the hope for a long and fulfilling life – a weighty and complex responsibility.  Give yourself permission to process these times – yes you are normal and tears serve a healthy purpose.  I read recently that emotional tears help clear stress hormones from our bodies and also help produce endorphins – the feel good hormones.   Couple this with laughter - also great at producing endorphins!  A good sense of humor and ability to laugh is a great blessing for the journey.  Our special kids generally are known for their great and sometimes quite unique sense of humor – be familiar with what makes them laugh and make the most of the opportunities for a good laughter workout.  I love to see our son really laughing – it usually involves his whole body!

For many of us the school journey has been a fairly contained environment and a regular routine that our children have been happy enough to adhere to.  Breaking out of that routine and adapting to the new brings many challenges and I don’t think we can underestimate the emotional energy it takes for our young people to navigate their way through.  A Disability Services employee who was getting to know our son several years ago observed that when he entered a room or a ‘new space’ it seemed that he was literally taking in and processing everything and everyone that was in that room or situation.  Where most of us will focus on what we consider the priority of the moment, for our children it can be that they are working overtime on the inside dealing with it all.  

 Perhaps a little like this picture – there was a path through this scrub, but if you are focusing on all the bushes the path is not easily made out.  We need to be patient and listen well.  Sometimes for us as parents it is hard enough to make it out.  Connect with people who have travelled the journey ahead of you – if you can do that in your own region that obviously helps enormously.  Others can share their experience and hopefully provide some shortcuts to help in your search for direction - be it for further education, employment or day options or for forms of respite or accommodation possibilities.  Be prepared to tell your child’s story with those that may become involved in this phase of the journey.  Our children are unique individuals who happen to have PWS, which brings with it an aspect of the story that must be told well for the sake of our young people.  We need to be strong advocates for our young people but this can also be a journey for us in discovering how that looks as they move into adulthood.  If our children welcome it that’s great, but if not then it is time to be creative.  We are blessed with many good resources today to help in educating others and if the opportunity is there for training to be given for staff of support organisations or workplaces we should take advantage of it.  Consistency of support in every situation is vital.

For our family we are now in a position where we are thankful to have reached a place of much greater peace – could this be the ‘summit’?  The view is so much better from here.  Mmm, the surface is not very smooth, lots of rocks, but we can move with much more ease.  We understand these rocks and the way to negotiate them.  There were moments during the climb where I wondered if I was going to make it – my mother heart was stretched, for all in the family!  But I did make it – we all made it!  So wherever you are up to in the journey with your family, hang in there!  Every day is a new day – and there should be some incredible views along your way.

Maria José

(Contributed by Dr Moris Angulo, USA, whose help, support, and compassion for families where there is a child with PWS, has not gone unnoticed.  Dr Angulo is a member of the Clinical Advisory Board of PWSA USA, a member of the Clinical & Scientific Advisory Board of IPWSO, was made '2001 Distinguished Doctor of El Salvador' by the Legislative Assembly and is recognised as a leading practitioner for patients with Prader-Willi syndrome.)

In June 11th 2000, Maria José, a beautiful infant was born to Josefina and Beto, a young Mexican couple from Pachuca, Mexico.

Maria José was born with most symptoms and signs of Prader-Willi syndrome (PWS) and enrolled in an early intervention program; her diagnosis however, was confirmed by lab testing until age 2 years. She never vomited but had several episodes (#5) of abdominal distention. Her mother learned how to measure Maria José abdomen’s circumference, thus she knew when to alarm and seek medical attention to the pediatric emergency room at the nearest hospital. Each time she had these abdominal distention, she received medical management with nasogastric tube to decompress her abdomen and occasionally she needed hospital admission.

During her 5th episode, she complained of mild abdominal pain without any vomiting or fever. Her mother noticed she was getting progressively worse and took her to the emergency room without any response to common procedures. Five hours after onset of clinical symptoms, she underwent surgical intervention for questionable gastro-intestinal perforation. Her surgery was successful according to Maria José’s mother, unfortunately 2 hours later, she developed severe peritonitis that did not respond to broad-spectrum antibiotics and took her place in heaven at age 9 years 2 months.

Maria José was their only child and, her parents aware of lack of knowledge of PWS in the community, organized with their own effort and personal expenses the first “PWS Conference” for families, nutritionists, physical therapists, pediatricians and other health care professionals on March 2005, before their daughter’s fifth birthday.  Maria José was the only child known to have this genetic condition in her town of Pachuca. 

Along with other speakers, I had the opportunity to participate in this interesting small meeting in which the audience included more health caregivers than families. Children of 6 participating families had clinical, but not confirmed diagnosis, of PWS and they were from different towns or states in Mexico.  From March 2005 till present time, Josefina and Beto have organized 4 events with increasing number of health care professionals and families.  Last conference was held in Pachuca, October 9-11, 2014. This meeting was a real success not only with larger audience that included 130 health care professionals and 88 families but participation of local government authorities. For the first time Maria José’s parents received a partial aid from local governmental office to house PWS families from out-of-state state.  My meeting this time was not only with parents and other professionals but two members of the government who kindly listening to parents’ concerns and agree to apply at higher government level to help to “Increase the awareness of PWS at national level”.

Josefina and Beto believe indeed that their little angel is watching them from heaven and by helping other families with PWS, she will be even happier!

 Moris Angulo, MD   

                       

What's going on in Peru?

At another PWS workshop in Peru, supported by IPWSO, some of their learnings are as follows:

Mariona, on top of Machu Piccu! 

We can do it!

From the first workshop about integrated management of PWS in Peru, hosted in Lima, November 7-8th, 2014, we can extract some key points:

- Early diagnois: as Fanny Cortés (from Chile) said, early diagnosis of PWS is the base necessary to allow all management and education necessary to improve the quality of live of people with PWS and their families. Of course, PWS must not be confused with other illnesses with similar symptoms.

- Water: keeping in mind the risks of water intoxication. Water was the second most repeated keyword of the meeting (after "Síndrome de Prader-Willi"): simply avoiding flavoured drinks, infusions and juices, limiting milk intake, and replacing most of liquid intake by water, we can improve body hydration and reduce calories intake. Of course, a standard healthy diet (reducing amounts) must follow too. Let's all repeat Myriam Royo's (from Spain) song: AGUA, AGUA, AGUA! (WATER, WATER, WATER) (just up to 8 cups a day!).

- Physical activity: from Cuba, Sady Rodriguez showed us how it is possible for people with PWS to be active. Physical activity is not forbidden for them, neither doing sport, walking, playing, dancing, even Special Olympics are possible for people with PWS!

- Team: from Garraham Hospital (from Buenos Aires, Argentina), Maria Torrado shared with Peruvian professionals and families how too develop a multidisciplinary team  which works amazingly to cover most of PWS medical needs. 

- Easy: improving quality of live is not so difficult. Vivian Leske (from Argentina) stressed the importance of polysomnography to diagnose sleeping apnoea, showing that it is non-invasive test, and explaining sleep apnoea, its types, its symptoms, its consequences and how to treat it.

- Skills: Karina Abraldes, from Argentina and Garraham Hospital, too, exposed the results of their research about behavioural phenotype on different types of PWS and how to take profit of all their skills.

- Always possible: Carolina Cárdenas (from Colombia) talked about a very difficult case (because of a poor social environment) and how with a bit of attention (yes, but with a lot of work) the situation may improve amazingly.

- Secure environment: Mariona Nadal (from Spain), reminded (about) the importance of rules to establish an environment where people with PWS may feel comfortable and improve their behaviour and well-being, along with this of their families'.

- Associations: that meeting will be, by sure, the seed of the future Peruvian PWS association, with the leading of their delegates Rosalva Espino (parent) and Alberto Teruya (professional) and the support of many hopeful families. 

We hope this event will make the difference for Peruvian people with PWS (already diagnosed or not yet, already born or not yet), as past IPWSO national meetings had make the difference in other countries. 

Because "We can do it" with YOU, you can help..

Can we do this? Mexico says YES!

IPWSO has given a lot to developing countries by way of support for their first conference, meeting, or workshop, and Mexico is no exception.  We are lucky to have Spanish-speaker, Mariona Nadal, who has a brother with PWS and many volunteer workers, including Marta Fernández, volunteer in Fundación Síndrome Prader Willi in Spain, who give up their time to help others in need.  Marta has written the following:

Prader-Willi Syndrome Symposium in Pachuca, Hidalgo (9-11 October): A lifetime experience.

For the first time in my life, and thanks to many people (IPWSO, Fundación Síndrome de Prader Willi in Spain, Fundación Mariajosé in Mexico), I have had the opportunity to travel to an international Prader-Willi Symposium.

Although I have only recently finished my undergraduate studies many people decided to trust in me as a speaker and the thankful parents and professionals, who attended the conferences, assured that they actually learnt something from my speeches, I am far more positive about what I have learnt from all of them!

These days, I have had the opportunity to learn how other people deal with Prader Willi Syndrome, not only in Mexico, but also in the United States with Dr. Angulo, who was in charge of the medical management of PWS. From Mexico I met some professionals too, the nutritionist Isabela Maldonado and the geneticist Dr. Queipo, who were also deeply involved with PWS. 

From Spain, we brought into discussion quite a different range of issues, I developed some aspects of psychological management and Mariona Nadal (board member of IPWSO and member of a PW family) developed family management of PWS, which, in my opinion, are as important as medical issues. We also had some government representatives with us, and I hope that we have also experienced the beginning of a political change in Mexico regarding PWS.

Moreover, I have had the unforgettable opportunity to listen to Jorge Moreno, an adult with PWS, who explained beautifully some experiences of his own life and his family. And I also met some other PW attendants and their families. I have talked to young, brave families, willing to learn, and to experienced families, also happy to learn from experts, but with significant contributions to share.   One of these families, whom I will never thank enough for these days, is Josefina’s who, despite of the fact that their angel is not any longer with them, organised the Symposium in order to help other PW families . But this is just an example of what I have witnessed. I have witnessed how even in the most difficult situations PW families join to face difficulties, understanding and helping each other, as much as they can. How they rely on those few, who can genuinely understand and share their experience, building a worldwide support community. 

Once again I realize that we are not so rare, that we are not alone, and that we have to be fearless, because the future of PWS is not waiting for us. The present of PWS is here, and we have the responsibility to make it as happy and as meaningful as possible.

Marta Fernández-López