Brendan, Age 8

Brendan was born 5 weeks early after a pregnancy where I had problems with low amniotic fluid since week 18. He is the third child in the family. When he was born his older sister was 8 and his older brother was 4.

Initially, Brendan met his milestones on time. But by 10 months of age, he appeared to stop progressing. He sat up on his own but made no effort to move or talk. We met with our paediatrician who told us ‘nothing was wrong’ so we switched paediatricians. We also began receiving therapy through the CDSA (Children’s Developmental Services Association) where we live in North Carolina.

Brendan had a MRI that came back normal. His main presenting symptom was overall hypotonia (low muscle tone). We met with a neurologist when Brendan was two years old, who told us he was mentally retarded and ‘not to get our hopes up’. He also suffers from pretty severe constipation and has many autistic behaviors.

The physical therapy (PT), occupational therapy (OT) and speech therapy made all the difference. Brendan started receiving those when was about a year old. He started crawling before his 2^nd birthday and walked before his 3^rd. He made consistent improvement with speech although very slowly.

We met with a new neurologist through Wake Forest Baptist University Hospital in Winston-Salem, NC when Brendan was almost 5. They suggested the blood test that led to us finding out that Brendan had the 2q23.1 microdeletion in November 2009. Brendan’s dad and I have not been tested to find out if he inherited the syndrome or if it was de novo.

Brendan attended a pre-K class made up of children with special needs and typical children. But, he was still behind developmentally. So, we put him in a private pre-K class the next year to allow more time for him to catch up. He then moved to a public school kindergarten where he could continue to receive PT, OT and speech through the school system. He is now in 2^nd grade but is doing very poorly academically. He is a good reader but doesn’t process information in a typical way. And, math is really challenging for him. So, they suggested having him repeat 2^nd grade next year. He will at that point be two years older than the other students biologically.

But he also has a short stature, so, although he will be 9 in April, he looks like a 5/6-year-old.  He has some of the self-destructive behavior that is typical of the syndrome. He sucks on his hand and will do that until it bleeds. He seems to have a high pain tolerance. That makes it challenging to know when he is truly hurt. He also has a mischievous side that can be challenging.

Brendan has red hair and freckles so he stands out in a crowd. He is very sweet and loving and is a joy to be around. No matter where we go, people seem to be drawn to him. He is teaching me about patience and about accepting things as they are. He loves video games and the computer and having a schedule that he can count on. We applaud each and every one of his accomplishments.

– Brendan’s Mom

Brendan, Age 11

Brendan was born 5 weeks early after a pregnancy where I had problems with low amniotic fluid since week 18. He is the third child in the family. When he was born his older sister was 8 and his older brother was 4.

Initially, Brendan met his milestones on time. But by 10 months of age, he appeared to stop progressing. He sat up on his own but made no effort to move or talk. We met with our pediatrician who told us ‘nothing was wrong’ so we switched pediatricians. We also began receiving therapy through the CDSA (Children’s Developmental Services Association) where we live in North Carolina.

Brendan had a MRI that came back normal. His main presenting symptom was overall hypotonia (low muscle tone). We met with a neurologist when Brendan was two years old, who told us he was mentally retarded and ‘not to get our hopes up’. He also suffers from pretty severe constipation and has many autistic behaviors.

The physical therapy (PT), occupational therapy (OT) and speech therapy made all the difference. Brendan started receiving those when was about a year old. He started crawling before his 2^nd birthday and walked before his 3^rd. He made consistent improvement with speech although very slowly.

We met with a new neurologist through Wake Forest Baptist University Hospital in Winston-Salem, NC when Brendan was almost 5. They suggested the blood test that led to us finding out that Brendan had the 2q23.1 microdeletion in November 2009. Brendan’s dad and I have not been tested to find out if he inherited the syndrome or if it was de novo. He is missing 471kb of genetic material but is not missing MBD 5. He also has occasional absence seizures but no other seizures to date.

Brendan attended a pre-K class made up of children with special needs and typical children. But, he was still behind developmentally. So, we put him in a private pre-K class the next year to allow more time for him to catch up. He then moved to a public school kindergarten where he could continue to receive PT, OT and speech through the school system. He is now in 4^th grade at a public school where he is mainstreamed. He is a good reader but doesn’t process information in a typical way. And, math is really challenging for him. Because of his delays, he is currently 2 years older than the other children in his class.

He also has a short stature, so, although he will be 12 in April, he looks like a 9/10-year-old.  He has some of the self-destructive behavior that is typical of the syndrome. He sucks on his hand and will do that until it bleeds. He seems to have a high pain tolerance. That makes it challenging to know when he is truly hurt. He also has a mischievous side that can be challenging.

I am concerned about his transition into middle school in 6^th grade and am working to find the right school for him. Also, his anxiety seems to be increasing as he gets older. He is not currently medicated for that but that is something that we may need to consider.

Brendan has red hair and freckles so he stands out in a crowd. He is very sweet and loving and is a joy to be around. No matter where we go, people seem to be drawn to him. He is teaching me about patience and about accepting things as they are. He loves video games and the computer and having a schedule that he can count on. We applaud each and every one of his accomplishments.

– Brendan’s Mom