Tyon
New Member
Hi all wonderful parents
My 5 month old son is diagnosed with Cornelia Lange Syndrome (CdLS). I have written an introduction in another thread, let me post it here:
My 3rd child Taeyon was born premature at 35 weeks. He was born in Dubai UAE as our family has been living here for the past 4.5 years.
Taeyon spend his first month in the ICU as he weighs only 1.48kg at birth. Not only does he has upper limbs abnormalities (max. 2 fingers on each arm and the left arm cannot be straighten), he also has bilateral cleft palate and gaps in his heart. He was eventually diagnosed with Cornelia Lange Syndrome (CdLS) which is rare affecting approx. 1 in 10,000 - 50,000 live births. My heart breaks when I see him for the first time especially when he first open his swollen eyes and look at me. Our lives were never the same then.
I remember one of the worst thing was to tell our families back home about him. Seeing their grief on the webcam was really heart wrenching.
Now Taeyon is 4 months, coming to 5 months soon. He has to be tube fed as he cannot swallow. There were many questions in our minds. Why didn’t the amnio test indicate this? Why didn’t the gynae detect his deformed hands during the numerous detailed scans? So many ‘Why?’ but there were no good answers. There were few useful resources we found on the internet and we learned that CdLS happens due to a mutation of genes and it could happen to anyone.
Recently he was hospitalized due to pneumonia. He stayed 4 long weeks. Now he’s home and slowly recovering. He is still weak from the infection and requires constant oxygen supply to maintain good saturation. His blood test still shows high level of CO2. He requires frequent suctioning which we both hate so much. But there was no other choice.
Life has to go on, we have to move on forward; I still have 2 other kids to take care of. Our initial grief has become more like an acceptance and we are more or less back on track.
Thats my story. Now I have a question: one of the doctor here suggest that we do a MRI or CT scan to see whether Tyon's brain is normal. He says most of these CdLS children have some degree of brain retardation or damage which we expect from the internet information we researched.
Me and hubby were not sure whether it is necessary. I mean so what if his brain is not normal? That doesnt change anything right? We will still continue to put him in therapy sessions and try to help him as best as we can. So what's the point? The doctor says it will help forsee whats going to happen in the next 6 months. That doesnt seem like a good reason. But nevertheless I still have some doubt at the back of my mind whether to do the scan at this young age.
What do you parents think? For those parents whose child did the brain scan; is it useful to know the results?
My 5 month old son is diagnosed with Cornelia Lange Syndrome (CdLS). I have written an introduction in another thread, let me post it here:
My 3rd child Taeyon was born premature at 35 weeks. He was born in Dubai UAE as our family has been living here for the past 4.5 years.
Taeyon spend his first month in the ICU as he weighs only 1.48kg at birth. Not only does he has upper limbs abnormalities (max. 2 fingers on each arm and the left arm cannot be straighten), he also has bilateral cleft palate and gaps in his heart. He was eventually diagnosed with Cornelia Lange Syndrome (CdLS) which is rare affecting approx. 1 in 10,000 - 50,000 live births. My heart breaks when I see him for the first time especially when he first open his swollen eyes and look at me. Our lives were never the same then.
I remember one of the worst thing was to tell our families back home about him. Seeing their grief on the webcam was really heart wrenching.
Now Taeyon is 4 months, coming to 5 months soon. He has to be tube fed as he cannot swallow. There were many questions in our minds. Why didn’t the amnio test indicate this? Why didn’t the gynae detect his deformed hands during the numerous detailed scans? So many ‘Why?’ but there were no good answers. There were few useful resources we found on the internet and we learned that CdLS happens due to a mutation of genes and it could happen to anyone.
Recently he was hospitalized due to pneumonia. He stayed 4 long weeks. Now he’s home and slowly recovering. He is still weak from the infection and requires constant oxygen supply to maintain good saturation. His blood test still shows high level of CO2. He requires frequent suctioning which we both hate so much. But there was no other choice.
Life has to go on, we have to move on forward; I still have 2 other kids to take care of. Our initial grief has become more like an acceptance and we are more or less back on track.
Thats my story. Now I have a question: one of the doctor here suggest that we do a MRI or CT scan to see whether Tyon's brain is normal. He says most of these CdLS children have some degree of brain retardation or damage which we expect from the internet information we researched.
Me and hubby were not sure whether it is necessary. I mean so what if his brain is not normal? That doesnt change anything right? We will still continue to put him in therapy sessions and try to help him as best as we can. So what's the point? The doctor says it will help forsee whats going to happen in the next 6 months. That doesnt seem like a good reason. But nevertheless I still have some doubt at the back of my mind whether to do the scan at this young age.
What do you parents think? For those parents whose child did the brain scan; is it useful to know the results?
