Enerca is a network of professionals, research centers and hospitals that are committed to working together to discover the origin, evolution and cure of rare anemias.  Recently, Enerca dedicated a portion of one of their pages to our website.  In doing so, our website has been made visible to specialists throughout Europe.

Thank you!!!

Some people, as a result of seeing our page, have begun to donate blood. Some have become faithful donors.  Others have decided to be marrow donors or to support other similar causes.  Once, some even volunteered to translate our page into English free of charge.  Right now we’re available in many countries: we have visitors from the United States, France, Portugal, Mexico, Argentina, Canada and even Burkina Faso.

Now we want to take another step forward. With this in mind, we have joined Teaming.net.  An online platform for small donations, where people can support causes like ours with a symbolic quantity of one euro a month.  In this way, we can continue doing our work of encouraging people to make gestures of solidarity like donating blood or being a marrow donor, in order to unite forces so that illnesses like Bernat’s are researched and receive more funding, and so that we are able to make more materials available to more people.

If you want to help us, we would be very grateful.  We would love it if you would help to support our Teaming.net group, in whatever form possible: giving one euro a month or any other contribution to the cause.

With all of your help, ElPetitBernat will continue to grow.

A couple of months ago a woman from North Attleboro, Massachusetts (USA) contacted us to tell us that she had seen our web page and that she had loved it. It turns out that she is also afflicted with PDK and had found us on Facebook. She loved the site so much that she asked us if we were planning on translating it into English. We had to tell her that, regrettably, we were unable to translate such technical topics, as they are even difficult to explain in our own language.

A couple of days later, the woman let us know that she was going to try to contact a language teacher from the high school in her town to see if anybody would help to translate the site. It seemed like a great idea to us, an example of solidarity and good faith. To our surprise, a couple of weeks later, we received an email from Anne Marie McGrail, a Spanish teacher from North Attleboro High School. She told us that she and her students would be happy to translate the site. She told us that it would be a great learning opportunity for her students, and she added that her students had been very excited about the opportunity to help such a worthy cause.

Soon after, the translations arrived and not just for the main pages but also for each and every one of the blogs. And if this weren’t wonderful enough, the students and their teacher promised to translate all of the future articles that we wanted to add to the site.

What do you think? It has shown us that there are wonderful people in this world with great hearts and a sincere desire to help others. So from Barcelona, Spain we want to thank the anonymous individual who put us into contact with our translators. We also want to thank Ms. McGrail and all of the North Attleboro High School students that participated in translating our page. THANK YOU!

The interview, hosted by Núria Solé and Cristina Macías, lasted about 20 minutes. Together with Enric Contreras (Coordinator of the Central Territories Blood and Tissue Bank), we were able to speak a little bit about Bernat and the history of his illness. Most importantly we were able to discuss the importance of the Blood Donation Marathon, the excellent work of the Blood and Tissue Bank, and to give a message of gratitude to all of those who donate blood.

Many thanks to Núria y Cristina for the opportunity given to us and for the fantastic broadcasting of the cause.

The report informed people about Bernat and his disease of Pyruvate Kinase deficiency, and it also highlighted the importance of having plenty of donors to help those in need, especially in the holiday season when donations usually aren’t as frequent.

This is all because of his own sickness that disrupts the metabolism and the chronic transfusions that make it worse. The lack of oxygen in his blood causes chronic anemia, as well as muscular hypotonia (a muscular weakness). At the same time, it also causes the heart to beat faster than normal in order to distribute oxygen. Those are two examples of how things that appear to be different, are actually linked.

Returning to the main idea that magnetic resonance controls the levels of iron in the organism. Through these resonances we are able to identify if an overload of iron exists and how severe it is.

Pyruvate kinase deficiency causes many problems, one of which is splenomegaly (an enlargement of the spleen). In addition to the constant transfusions Bernat receives, there is an overload of ferritin (iron) that is released in the body. This may seem odd for many people, because most people think that anemia is the lack of iron in the metabolism, but that is not always the case. Anemia by definition is the lack of clean red blood cells in the blood that could be derived from many circumstances….0

In Bernat’s case, the bone marrow produces defective red blood cells that quickly self destruct. To counteract the subsequent deficit of red blood cells, the body absorbs more iron. These levels of ferritin, an iron-binding enzyme, are controlled by continuous transfusions. Dangerous levels of ferritin in some organs, like the liver, must be eliminated. This process is called chelation, and Bernat needs to take daily medication specific to iron chelation therapy.

From the results of the latest MRI, we were hopeful because the level of iron in Bernat’s blood had gone down a lot since the most recent test. Previously, his iron levels were 14, when the average iron level of an adult fluctuates between 3 to 5. The latest MRI showed that it had gone down to 5, a level which is still high, but shows that his chelation therapy was effective.

We were lucky enough to meet Anna Ripoll, who is a delegate of FEDER in Catalonia. We loved being able to talk to her, and they showed us all their support for our initiative to raise awareness for Pyruvate Kinase Deficiency through this website. At this point, we are very thankful for all the attention and advice they gave us.

I would also recommend going to the FEDER full web page. You will find all the information about the work they provide to patients and their families about rare diseases.

The great difficulty in the transport of oxygen and a massive destruction of Red Blood Cells, both derived from neuromuscular problems, specifically in hypotania (loss of muscle tone), are presented in the most severe cases of the illness. These symptoms cause him to get tired quickly. They are two occurrences that result in his need for medical control by a cardiologist.

Because when Bernat was nine months old, the doctors detected a psychomotor delay, the neurologists referred him to a CDIAP (Center for Infantile and Early Development) so he could be treated by a physical therapist. With time, patience, and a foundation of specific exercises, they have made a lot of progress. Additionally, the treatments that he has received since nursery school have been key in his advancements.

May 9th marked one year since Bernat took his first steps. He was almost two years old and it was the day before our wedding – a great surprise and a beautiful gift for his parents!

Today, Bernat still requires various types of assistance. He needs permanent support of a physical therapist and neurological monitoring. Genuinely, we feel very fortunate that Bernat has the support of various professionals.

We want to take this time to thank the hematologists of San Joan de Déu Hospital: Dr. Ruben Berrueco and Dr. Albert Catalan. They are excellent professionals and good people. They are very supportive, and we are very fortunate to be in their hands.

In addition, we want to thank the great work that the day staff of the hospital has carried out, from the nurses to the administrative department.

Also, we want to stress the admiration that we feel for the work that the Pallapupas have done. They continue to make us laugh and always include us in their madness. It would not be the same without them.

We can’t forget some of the most essential people in San Joan de Deu Hospital, the volunteers. They are a great source of support for the families and the kids.

And finally, we want to give lots of thanks to all of the anonymous people that have been donating blood. Without them, Bernat would not have a bag of blood ready each time he needed it. They are the real heroes!

With this site, Bernat’s parents want to make this disease known to people, so everyone can understand the little things that they can do to help children like Bernat, who chronically need blood transfusions.

We have tried to make a nice and friendly website, and above all, one that is very easy to understand. There are more scientific and specialized guides on the internet but, perhaps through this more personal site, people will better understand the circumstances that cause a disease like Bernat’s – a disease that can have different levels. Unfortunately, Bernat suffers from a very serious case.

Gradually, we will try to grow ElPetitBernat.com. We will publish interesting articles and news everyday, and we will try to include all the information concerning our little one, his disease. In the future, we hope to give a voice to other young heroes like Bernat.