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

"Send weighing scales and height boards"

IPWSO is proud to offer support to contacts in 103 countries.  These are doctors and parents who, like IPWSO itself, work to raise awareness of PWS and to support people with PWS.  While some of the challenges they report are shared in most or all countries, there are others that are unheard of in richer countries.  Some recent requests received from doctors and parents well illustrate this point.

1.  One doctor requested that IPWSO send him weighing scales and height boards as he simply didn't have the means to obtain these himself;

2. Many doctors requested that IPWSO continue to provide its free diagnosis service whereby IPWSO will fund the cost of genetic testing of any patients suspected to have PWS who cannot access genetic testing in their own countries.

3. One doctor requested that IPWSO send him filter paper to enable him to send blood samples to IPWSO for testing. 

4. Many doctors have requested that IPWSO advocate for the provision of growth hormone to people with PWS in their countries.

5. Doctors and parents alike have requested that IPWSO provide translations of medical guidelines and IPWSO publications.

6. Perhaps saddest of all, many doctors have requested that IPWSO continue to send them information as they hope that someday they will have patients with PWS in their countries that they can identify.  In many very large countries around the world it remains the case that there are no known cases of PWS.  Maybe you can remember what it was like to raise your child not knowing what was the matter, what made him or her so different from others.  IPWSO is working to change this.

Those of us with children who have benefited from early diagnosis that has led to positive strategies to manage the challenges of the syndrome may never pause to think of mothers in countries where none of this is a possibility and who sit and weep for the child they do not understand.  We are a huge organisation around the world and there are countries where parents have found the strength to do something, to build a PWS community where they have found strength in numbers to advocate for their children.  Others have strongly advocated for (and won the right to) growth hormone treatment.  Plenty of PW Associations have gained respect at schools by teaching teachers what their child needs, and residential services have benefited from their specialised knowledge. 

For most of us, it is almost impossible to imagine life without these supports.

For other parents, this kind of support will never happen.

One of the things IPWSO has done to acknowledge that there are families desperate for support is to initiate “FamCare”, a board which is composed of parents and professionals giving their best advice answering the questions “how do I …”  “what do I do when…”  FamCare knows what you are going through and can support and offer help.

I wish we could do more.  I wish we could say “here’s the cure… here’s what will solve the problem”, but we can’t, any more than our best scientific researchers can.

But we can help!! 

IPWSO will do its best to find the scales and height measurements needed, IPWSO will continue to offer free diagnoses where none can be found, IPWSO will get the filter papers to the doctors that need them… and IPWSO will continue to put parents in contact with other parents around the world.

By keeping our PWS community alive, by sharing not only our heartaches, but our successes, our milestones, and the crazily wonderful things that happen, we offer support, strength and understanding.  Yes, we need financial support to help doctors like the ones we’ve mentioned above, but we also need everyone in the world to understand that PWS is not a life-sentence in the way it used to be, it’s just a different way of living, of understanding how the world turns, and how we can learn from it.

IPWSO, an organisation made up of parents, scientists, professionals and people with the syndrome around the world, is united in its determination to keep learning, keep researching, keep sharing, and keeping strong in every possible way, in every country that needs us – all of us.  It’s a solidarity we are lucky to have.

We will help the doctors in countries where there is no support; we will help the parents, and we will do this knowing that you support our work in the world.  If you have a question that needs answering, if you know of a family who needs support, if you have some great stories to share with us… drop us a line!

And...thank you for being part of IPWSO!

Dietary Management in PWS - the absurdity of it all!

By MH

I recently had the great pleasure of interviewing a group of parents about dietary management in PWS.  The interviews were recorded for a training film and were designed to find out the practical actions that parents take to manage food. 

The commonalities in both problems faced and management strategies applied were striking.  One speaker after another spoke of stress being caused by peas rolling off plates and the need to have replacement peas close at hand!  Surprisingly to me, grandmothers came in for particular and consistent criticism for giving inappropriate food to people with PWS. 

Many parents, I am delighted to say, were able to laugh at the absurdity of it all.

Of course, this all led to me reflect on what I (a parent of a son with PWS) do and, in particular, led me to think about some of the odd things that I could never have imagined when I first heard of PWS.

For example ...

My son refuses to use a knife.  I'm pretty sure it's because he knows that he is not allowed to put his knife in his mouth and is terrified at the prospect of some food sticking to his knife that he will then not be able to eat.  So, I either cut his food for him (which he doesn't like as he considers himself too old) or he laboriously attempts to cut it himself using the side of his fork.   

I increasingly find myself not finishing the food on my plate until my son has finished his own meal.  Why?  It's in case some mishap occurs to an item of food on his plate that I then need to have a immediate replacement for. Most of the time I'm not even conscious of doing this.

I "sneak" food.  When I find myself hiding in my utility room (which isn't visible from any other part of the house) eating a piece of fruit, I usually don't find anything odd about my behaviour.  But every now and again, I am reminded that this is all slightly RIDICULOUS.

I have concluded that I cannot give my son a full apple, not even a very small one.  Why?  Because he invariably eats the core and then becomes upset.  I know that he doesn't intend to eat the core, but worries so much that he may leave an uneaten piece of apple behind that inevitably he swallows everything and then starts to worry.

I regularly find myself having to call my son repeatedly when his meals are ready.    I assumed that my son's interest in food would rapidly propel him to the table for each and every meal, but no, this is not what happens.  Rather, if he is in the middle of another activity his desire to finish the activity is usually greater than his desire to come to the table.  As a result, at least every other day I find myself repeatedly calling him while the rest of the family sit waiting.  This was not what I expected PWS to look like.

I regularly lie about food.  In fact, lying is probably one of the strategies I employ most frequently in dealing with dietary management in PWS.  So, if my son asks (for the 3rd time!), if I checked the expiry date on his yoghurt, I will lie and claim that I did.  If he asks what I have been doing in the utility room, I will, without any guilt, invent a story that has nothing to do with food.

I felt privileged to have an opportunity to listen to other parents talking about how they manage food.  Hearing what they did made the absurdity of it all even more obvious to me.  It also made me feel proud to be part of a group of people who have found ways to cope with what is a supremely difficult task and, sometimes, even manage to laugh about it.

*** 

I always remember a mother of an adult son with PW being called out of the house by her neighbour just as the roast dinner was ready.  She hid the full roasting pan in her husband's wardrobe...  Editor

When IPWSO came to Ireland

by M.H.

Having a rare disability in a small country presents particular challenges.  There is likely to be little expertise within the country and convincing professionals to take an interest in a diagnosis that they will seldom encounter is a difficult task.  Having only a small numbers of people affected by a particular disability also renders many types of research unfeasible.  Tailoring services (when they exist at all!) to take into account the differing abilities and needs of those diagnosed presents practical challenges.

However, one can argue that there are also advantages to isolation as far as having a rare disability is concerned.  For a start, it may encourage families to educate themselves more and to become stronger advocates.  It may prompt families to rely more on each other and to work more closely for the benefit of those affected.  It may also encourage people to look beyond parochialism and the confines of their own country and to recognise that they can learn from around the world.

In small countries expertise in PWS is more likely to be concentrated in a small country into fewer centres. This allows for a channelling of the majority of people with PWS into one clinic, thereby creating increased knowledge of the PWS population than might be the case in countries with larger populations.  

Ireland, with a population of little over 4.5 million, is a small country.  Approximately 100 people have received a genetically-confirmed diagnosis of PWS in Ireland since testing began here in 1995.  However, it is believed that there could be up to 150 people who have PWS living in the Republic of Ireland and up to 60 in Northern Ireland. 

In September 2014 a shining example of learning from other countries occurred in Ireland when at the Prader-Willi Syndrome Association Ireland (PWSAI) annual conference, eightspeakers affiliated with IPWSO, all experts in their respective fields and all based outside Ireland, presented to Irish families alongside one speaker from within Ireland.

The presentations by IPWSO speakers served to reassure Irish families that many of the services and recommendations that were being offered in Ireland were indeed in accordance with international practise.  Their presence provided an opportunity for people to ask questions of experts who had dealt with very large groups of people with PWS over a long period.   It also highlighted gaps in services in Ireland and, we hope, provided an impetus for further advocacy by individual families and PWSAI.  The distribution of leaflets about research studies being conducted outside Ireland, but for which Irish participants were being sought, also offered an opportunity for Irish families to contribute to research.

Some parents reported that they felt hugely enriched by the informed content and depth of the talks that were given on the day.  For the first time ever, we witnessed parents of younger children feeling less scared than they would have been previously about adult services. The information provided by Hubert Soyer, Susanne Blichfeldt and Georgina Loughnan was particularly reassuring to them and one participant suggested promoting “A Lifespan Approach” for a country conference every four/five years.

 

Professor Susie Cassidy (IPWSO Chair)

It was a long day, but a very stimulating day!  PWSAI expressed its sincere gratitude to IPWSO and all the individual speakers.  We hope and believe that this event will leave a lasting positive legacy for people with PWS in Ireland. 

Not alone that, but we also hope that the IPWSO trip will lead to benefits for people with PWS around the world, as IPWSO  took the opportunity to hold a face-to-face board meeting over two days while in Ireland.  Ambitious plans were agreed and actions drawn up with a view to further advancing IPWSO's mission of improving the quality of life for all people around the world with Prader-Willi syndrome and their families.

IPWSO's stay in Ireland concluded with two members of IPWSO, Janalee Heinemann and Giorgio Fornasier, continuing to spread the word about PWS at the European Society of Paediatric Endocrinology Conference, which was also held in Dublin.  You can read about their experiences in our previous blog.

Some of our IPWSO Board members enjoying Irish hospitality