How was the diagnosis?
Posted: Wed Dec 18, 2024 6:29 am
Markel is 18 months older than his older brother, Jon. With such a small age difference, his parents were very new to having a newborn at home, but Markel did not stop crying during his first four months of life. At five, he had a hard time lifting his head and his body was hypotonic (very soft, without strength). After seeing several pediatricians, his parents decided to go to an early care center to evaluate him. That's where the path began to reach his diagnosis almost a year later: Glass syndrome, a rare disease that affects just over twenty people in Spain. On the occasion of World Rare Disease Day, we spoke with Sonia Zaragoza, Markel's mother (warrior in Basque), so she could tell us about her son's daily life and the steps they are taking to improve his quality of life.
Markel was 23 months old when the neurologist diagnosed us. We left his office not knowing exactly what he had; he told us that he couldn't help us because he didn't know th first we couldn't find jamaica phone number data any information because our diagnosis didn't include the word SATB2, which is what Glass syndrome is known as today.
What is Glass syndrome?
It encompasses all conditions that are affected by the SATB2 gene; it is diagnosed with a genetic test. People who have this condition may be affected by a duplication of the gene, a mutation or a deletion. The latter is what happens to Markel, he is missing a piece of chromosome 2, and among other genes, a copy of SATB2 is missing.
«A diagnosis is not the end of the road, but the beginning of a different, but equally exciting, journey» Is it considered a rare disease?
There are only about 600 people with this condition in the world. Of these, 23 are in Spain and the average age is 10 years.
At the neurological level, people with SATB2 usually have cognitive delay (from moderate to severe), have little or no verbal language, some have epilepsy, there are behavioral problems, they have hypotonia and difficulty with fine and gross motor skills, they usually have a cleft palate at birth and dental difficulties. There are also problems with osteopenia and they have difficulties in absorbing some vitamins, as well as other nutrients, being extremely thin. They are also very jovial people with a smile that captivates from the first moment.
Markel was 23 months old when the neurologist diagnosed us. We left his office not knowing exactly what he had; he told us that he couldn't help us because he didn't know th first we couldn't find jamaica phone number data any information because our diagnosis didn't include the word SATB2, which is what Glass syndrome is known as today.
What is Glass syndrome?
It encompasses all conditions that are affected by the SATB2 gene; it is diagnosed with a genetic test. People who have this condition may be affected by a duplication of the gene, a mutation or a deletion. The latter is what happens to Markel, he is missing a piece of chromosome 2, and among other genes, a copy of SATB2 is missing.
«A diagnosis is not the end of the road, but the beginning of a different, but equally exciting, journey» Is it considered a rare disease?
There are only about 600 people with this condition in the world. Of these, 23 are in Spain and the average age is 10 years.
At the neurological level, people with SATB2 usually have cognitive delay (from moderate to severe), have little or no verbal language, some have epilepsy, there are behavioral problems, they have hypotonia and difficulty with fine and gross motor skills, they usually have a cleft palate at birth and dental difficulties. There are also problems with osteopenia and they have difficulties in absorbing some vitamins, as well as other nutrients, being extremely thin. They are also very jovial people with a smile that captivates from the first moment.