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Dr. Andrew Rynne
MD
Dr. Andrew Rynne

Family Physician

Exp 50 years

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Suggest Treatment For Trisomy

My daughter who is only 5 months n 8 days in age. She has been indentified down syndrom Trisomy 21 with severe cardiac problem Fr easy ref see below diagnoses summary Name Ms.Mahera Rahman Date of Birth 31st July 2011 Blood Group : A + Birth weight :3.8 kg Current weight : 4.7 kg current OFC : 37.5 cm T3 -1.05 T4 -15 (Sample taken when she was only 11days) TSH - 4.38 (Sample taken when she was only 11days) First Echo date - 10/sep/11 Age - 1M10D Impression : Moderate PDA with L-R shunt Moderate ASD ,Secondum with L-Rshunt Moderate VSD, PM with L-R shunt Mild PAH Chromosomal Analysis : Trisomy 21 . Downs Syndrome No of Chromosomes : 47 No of Autosomes : 22 pairs +1 No of sex Chromosomes : XX Karyotype : 47, XX + 21 Last Echo date - 28/dec/2011 Age - 4M 28D Impression : Large perimembranous VSD with reverse shunt Large ASD-2 Large PDA with reverse shunt Mild TR Severe pulmonary hypertension. PASP 76 mmHg Current Medicine 1. Syrup Centoxin 0.05 mg/ml ( Digxin ) Dose 0.4 ml two times a day . 2. Syrup Frusin (Furosemide USP ) Dose 0.5 ml two times a day 3. Tablet Enaril 5 ( Enalapril maleate 5 mg ) Dose 1/12 two times a day 4. Tablet Edegra 50 ( Sildenafil Citrate) Dsoe 1/20 three times a day. Many Thanks fr yr kind guidance fr her treatment.
Thu, 9 Mar 2017
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Cardiologist 's  Response
Hi There

I have read carefully all the medical details provided by you of your daughter and its unfortunate that its a genetic disorder and the medical science till date dont have a cure to it. Although early intervention programme with a team of therapists and special educators who can treat each child's specific situation are helpful in managing Down's syndrome to make to child self dependent and productive in his adult life upto some extent.
For the congenital heart defect you can consult a pediatric cardio thoracic surgeon for a proper opinion on if the defect can be repaired surgically.
The medicines which you have mentioned are adequate and will relieve the child symptomatically.

May God Bless The Child
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Suggest Treatment For Trisomy

Hi There I have read carefully all the medical details provided by you of your daughter and its unfortunate that its a genetic disorder and the medical science till date dont have a cure to it. Although early intervention programme with a team of therapists and special educators who can treat each child s specific situation are helpful in managing Down s syndrome to make to child self dependent and productive in his adult life upto some extent. For the congenital heart defect you can consult a pediatric cardio thoracic surgeon for a proper opinion on if the defect can be repaired surgically. The medicines which you have mentioned are adequate and will relieve the child symptomatically. May God Bless The Child