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Melina (3) suffers a mutation in the Marfan syndrome

One would think that over the course of the past years, most of the people some of Marfan syndrome. That this is but a fallacy and the importance of public relations for the Marfan syndrome is shown by the print edition and online articles in the Rotenburg Rundschau 13.03.2010.

The article by Andrea Winterhalter reported from the 3 year old Melissa. Since Melina blue for their first vaccination delivery points and got extreme tachycardia, followed by a referral to a pediatric cardiologist Dr. Nekarda Rotenburger in the Diakoniekrankenhaus. After the first glance said Dr. Nekarda that it could be either the Marfan syndrome. After a series of extensive studies with a chromosome analysis confirmed the Bremer specialist in human genetics, Dr. Sprague, the diagnosis. In subsequent genetic studies of parents and two years older sister Mayleen no Marfan syndrome was found.

With Melina, however, showed some symptoms even the suspicion of Marfan syndrome.

Quote:

"... When the nurse and the bus driver her daughter could finally close in his arms, fell on them that their baby was very tall and thin. "It looked like a monkey. The skin hung in folds from the body and was too big for its 56 inches. Her fingers were extremely thin and almost twice as long as normal. She had a funnel chest, a dark, extremely loud voice, a high acute palate and a deformed face, "says Melanie. "We thought the same, there's something wrong & '8220; adds Marcus. With the standard study between the third and tenth day of life was noted that the so-called primitive reflexes were not available. "Although they fell through the U2, we were simply released from the hospital" ...

... Wonder went home. "The child drank around the clock, digestion was normal and a correspondingly large amount. We could see them literally grow. The midwife felt that something was wrong. "The family knew at the time does not mean that it is specific to children with the Marfan syndrome to grow rapidly. "The first three months, she cried more conspicuous. We were trying the growing pains. It was noticeable that their cooking - like an old man - cracked. The small body tension, and that they only moved his right arm worried us, "say the parents. An odyssey from pediatrician to pediatrician in various cities began. It was ever the remark, the mother, over! "I resigned myself to my Daughter to continue to monitor and me to be very concerned, "the nurse tells a husky voice ... "
(Source: Rotenburger Rundschau)

Because of faulty connective tissue Melina has a very weak muscle tone. This results in a strong instability of the whole body. After growth spurts, the muscle tone further reduced. Furthermore, Melina has bulges (aneurysms) to two main arteries of the heart. The funnel chest surgery is soon, because the heart is depressed. This results in an impairment of respiration.

Quote:

"... There are other Actions must follow. How bad is all that we do not know. We live all day long and enjoy the moment. ... "
(Source: Rotenburger Rundschau)

might have asked you to read that as it may be that not much Melina diagnosed with Marfan syndrome was more!

Also, you can easily make a contribution to make the Marfan syndrome and publicly known. Please continue to send this blog address www.marfansyndrom.blogspot.com to colleagues, friends, acquaintances and relatives. Thank you.

The first picture shows Melissa (left) with her two year older sister Mayleen (right). The second figure shows Melina's right hand (right) compared with the right hand of her sister (left).

the entire online article reached by following the three-year Melissa suffers from rare connective tradesman's disease (Marfan syndrome)

With the approval of the Rotenburg Rundschau it is possible to use the pictures for this blog post. But thank you.