|Diagnosis||Distal 10q. 46<2n>,XX,der(15)t(10;15)(q23.3;q26.1). The duplication of 10q23.3 to the end that have been attached at the end of chromosome 15 while having a micro-deletion at 15q26.1.|
|Parents||Yongsik Lee, Seungran Baek|
August 30, 2020
When Sungjoo was born filling the normal 10 months, her weight was just 2.24 kg and was too weak to cry, so had to stay at NICU for a month. Later after more investigations, we learned that she is very special genetically. While she was growing up, there were several problems that we have found. Some major ones (at the age of 4 as of Sep. 2020) are: - Slow growth: Currently her weight and height are much less than the normal children (<1% from the bottom) - Weak muscle tone: She cannot flip in the bed by herself yet, which means no crawling, no sitting, no standing, and no walking at all. - Severe intellectual disability: She seems to recognize the object (e.g., mobile) and tries to grab by herself, but she cannot say a word yet like ‘mom’. Also she has ACC (complete Agenesis of Corpus Callosum). - Respiratory problem: She cannot breath sufficiently, so takes a oxygen therapy at home (with a oxygen-generation machine) all day long. Frequently (twice a year in average) she suffers from severe respiratory infection problems in her lung. It seems to be caused by a typical cold or a vomiting, but her condition becomes very bad after that (sometimes requires to be in the intensive care room). This is the most severe problem currently. - Tube feeding: she cannot eat thru her mouth. It seems that she cannot swallow the soft food or even a water. We tried many times at hospital, but failed. We don’t know the reason. By the guidance of doctors, she took a surgery for tube feeding, and this looks very effective so far (to maintain her weight). - Small eye: She cannot make her eyes big enough when watching something, so she raises her eyelid up by her hand when watching. It looks that we have described the problems only, but this is to share her conditions transparently to this community. Actually she is very cute and makes us to smile every day. Even though we cannot communicate verbally, by clapping hands together, and with eye contact, we communicate each other. This is apparently a new experience as parents compared with her very active brother, but we learn many things with this special journey.
Best Regards, Yongsik