Williams syndrome is a genetically determined rare diseases. Kankaanpääläisen family is still learned to live a full life, even Scrooge-the son heard the sick among the.22-year-old Roope Järvinen disease found in early childhood. Her family includes parents Marjut Mäkelä, 49, and Sami Järvinen, 47, as well as big brother Teemu Järvinen, 26 (not shown). Marjut-mom and Sam-dad experience Scrooge-the son’s illness that brought its own kind of richness of life. Tomi Olli
When Roope Järvinen was just two weeks old, he was diagnosed with a heart defect. The aortic arch and the pulmonary artery was restrictions.
Two months of age Scrooge surgery Helsinki university children’s clinic. Parents worry not however, I missed it.
Scrooge had one surgery the morning after the seizure. The penalties when it turned out that he had suffered a cut in a lack of oxygen, the mother Marjut Mäkelä tell.
the News overwhelms the fresh mom.
– I’ll always Remember that in August the hottest day of the shock of the doctors informs Scrooge to stay cerebral palsy would be the lack of oxygen, Marjut sighs.
cerebral palsy diagnosis, however, soon called into question. The family received the next day a small hope. The doctor said seizures and changes in EEG.there may be due to the long surgery.
Scrooge got home a couple of months after surgery. We followed, of course, precisely his development and we are waiting with bated breath for her first smile, father, Sami Järvinen recalls.
the Final diagnosis roope Järvinen living with intellectual disabilities within the supported in the dormitory. Tomi Olli
Doctors had awakened immediately after surgery, the interest of Scrooge’s blood vessels, which they lacked throughout the elasticity.
the Family ushered in the end of the control during the visit the children’s clinic the heredity of the doctor’s office. They received that was the first time I heard of Scrooge’s developing into, possibly, Williams syndrome.
Us the name of the disease does not tell me anything, because we had never heard of one, Sami Järvelä says.
Scrooge had a definitive diagnosis of FISH chromosomes for research after when he was one and a half years old. Diagnosis no parents no longer shock.
Diagnosis is not at that stage attracted a bigger shock, because we had already been given a diagnosis of cerebral palsy. The new diagnosis, the earlier turns out to be wrong, Marjut Mäkelä says.
the Syndrome detection after the start of the regular heart control studies, which keep the family in suspense for a number of years.
– exciting we each study visit, how Scrooge’s blood vessels are left to grow or ahtautuisivat did them again. We know that surgical treatment was no longer possible. This clogging would mean Scrooge at his succumbed.
– Fortunately, all went well, and the blood vessels began to grow. Scrooge’s situation improvement for us was a huge relief, Marjut-the mother recalls.
Own the pace of boxing is Roope favorite hobby. Sami Järvinen
Scrooge’s development progress over the years at their own pace. Crawl he learned from a physical therapist, and her first tentative steps he will take to the therapist years and seven months of age.
Roopella had development delays, but also other symptoms, such as, inter alia, the disease related to a typical problem swallowing.
Coarse food yökötytti, and drooling was a lot. Scrooge is also not tolerated, for example, a vacuum cleaner sounds and loud banging. This meant that our home construction site visits were not Roope’s favorite. He took already the courtyard upon entering the ear closed, Sami Järvinen recalls.
Also, Scrooge’s speech development is delayed, and he needed speech therapy and sign language. Marjut Mäkelä, speech is still a problem.
– Now an adult speech production is difficult. We have thought it due to surgery lack of oxygen, because Williams syndrome are usually verbally talented.
Scrooge is very musical, like many others from the same illness suffer. Parents said the boy simply loves music.
He was smaller, very enthusiastic about Lord, and also Hake have been important. Scrooge’s biggest music idol is, however, Anne Mattila . Her song to Cancel the wedding is Scrooge’s number one favourite at karaoke, Marjut Mäkelä smiles.
Roope is also important in sports. He had and follow the different species. In hockey he encourages Pori Aces and baseball in the fabric of the head of the Racket. Favorite sports, however boxing, which the young man work out once a week.
it’s great that he thrives on the species. Roope give good to learn Janne Katajisto and Brother to Assemble , Sami-father commends.
a Great arrangement instead and the son thrive in the sports shops. Tomi Olli
Scrooge went to elementary school harjaantumis grade, after which he received a six months cancellation from Pori Vocational college Creative. As a graduate student place was in doubt, ended up the parents of another solution.
– the fabric of the head was built three years ago with developmental disabilities for supported the dormitory, to which Scrooge changed migration coaching after August 2015.
we Felt it important that Scrooge get to practice independence skills and in the everyday life of survival. Migration brought more content everyday life, and he doesn’t always need to be just with mother and father Sami father said.
Also the mother is happy opened the possibility.
– Is a lotto win for all of us, that such a supported dormitory was built just 400 meters away from our home. Scrooge spend in the dormitory for a week and on the weekends, he comes as a rule home.
Although Scrooge can’t read or write, can he keep the “kämpiltään” our parents contacted by telephone.
Scrooge participates in weekly three weekday day activities. He used also other dorm residents to meet, inter alia, the special young friends in a cafe.
– the Dorm she has got new friends and girl friends. In the plural, therefore, that in the dorm is sometimes as BB-in the house: couples can change on a daily basis, Marjut Mäkelä laugh.
Richer life
Marjut Mäkelä said Scrooge brought the family to life a lot of good. The mother is grateful every day.
Scrooge is adaptable, kind and social. The dissimilarity is brought about a lot of things, with which we would not have otherwise been making. Dissimilarity may also be wealth, he summed up.
the Mother admitted to still, not all days have been easy.
– Especially Scrooge’s childhood years health problem burdening the whole family. This meant that also the big brother Teemu have to be flexible in many things.
– special children and as parents we have also had to fight for the children benefits for the municipality as well as the Coil. Such a situation is naturally the load increasing.
Scrooge has always needed an adult presence, guidance and care. One problem is the traffic, what he doesn’t know how to watch out for.
– It means that you alone pass. Only ”kämpiltään” Scrooge has become home alone, because the distance is short and the route of the transport vehicles. Scrooge can also ride a tricycle going for it on fourth and is in older age learned to swim, Sami Järvelä says.
Parents experience peer support is very important. They have been in contact with other Williams Fenomenbet families, inter alia, the Facebook-group.
peer – to-peer support quickly rose to the major role. We also met in early times quite lovely families, who were in the same life situation.
peer – to-peer support has been very important to the new and the unknown with it, it has given faith to move forward. My husband and I also very grateful to so Roopea care for than many others, which have made possible his participation in various activities, Marjut Makela stresses.
the Case is interviewed only Roope Järvinen older, as he himself has difficulties with speech production.
