Age - 11 years. First symptoms developed after 3 years.
Symptoms and signs (Chronologically arranged) 1. Thickened Mitral Valve with Mild MR - December 2004.
2. Stiffness of Joints and facial deformity - August 2005.
3. Abdominal Hernia - September 2008.
Detailed History
11 year old, was born on 24th February, 2002. Up to three years of age he was absolutely normal and was like any other normal child. It was December 2004, one local doctor informed me that some whizzing sound is coming out from his heart and advised to consult a cardiologist. Then we visited a senior cardiologist and he advised for ECHO Cardiograph. Echo test results thickened Mitral Valve with Mild MR. Then we visited R.N.Tagore International Institute of Cardiac Sciences. There, we consulted with Pediatric Surgeon Dr. Biswajit Bandopadhyay. There also his Echo Cardiograph done and results was the same. After that we continued to visit Dr. Bandopadhyay for the third time. In between we also visited one renowned Orthopedist Dr. R. Home Chowdhury, He suggested for physiotherapy. At the last visit of Dr. Biswajit Bandopadhyay on 11th February, 2006 he told us that he has a different problem and referred to Dr. Apurba Ghosh.
Then on 13th Feb, 2006 we went to visit Dr. Apurba Ghosh, he took a look at him and suspected at a glance seeing his stiffness of joints and facial deformity that his has MPS and advised for skeletal X-ray. Reports confirmed Mucopolysaccharidosis (MPS). Then we went to Christian Medical College, Vellore in pediatric dept on 24th February. They conducted a 24 hour Urine test and confirmed MPS.
In the mean time, it was the year of 2008, Dr. Apurba Ghosh informed us that there is a treatment called Enzyme Replacement Therapy (ERT) for this disorder and advised us to visit Dr. I.C.Veerma at Sir Gangaram Hospital, Delhi. Then we visited Sir Gangaram Hospital to meet Dr. Verma and Dr. Ratna Puri in November, 2008.
There, an Enzyme Assay was done to detect the enzyme that deficient or absent in the blood. Test result confirmed the Hunter Syndrome (MPS II), Iduronate-2-Sulfatase, the enzyme is less in presence in the blood.
In the 2009, I requested Dr. Sumita Danda (CMC, Vellore) to contact Shire for the medicine for him no. of times. She has tried, SHIRE has not replied as per Dr. Danda.
After that I started mailing to Shire. Now they have decided to come to India with their Charitable Access programme through which they will provide the drug to few patients free of cost. The programme is in the process. On 2nd March we again visit Dr. Ratna Puri for check-up. She has given few tests to record the present physical condition of his.
After that we are making effort to reach the Govt so that we can able to get the drug for his to save his life. I have applied to Chief Minister of West Bengal, written to Prime Minister. Also we have given a letter to President of India. We met local MLA and MP and requested to do the best for him. I regret to write I have got no response from anybody who ever I approached mentioned above.
The disease is progressive, so his physical condition is deteriorating day by day. We should arrange the drug and start the treatment as soon as possible.
Family History :
No such history of disease in the family. Has one sister who was married in early 2010.
Treatment and diagnosis history
Date and Year | Symptom | Reported by the Dr. | Tests and results |
December, 2004 | Murmur sound in heart | Dr. Susovan Ghosh Mandal, Howrah | Referred to a cardiologist |
Dr. S C Mohanty, Howrah | Echo-cardiograph done, thickened cardiac valve | ||
5th Feb, 2005 | Thickened cardiac valve | Dr. Biswajit Bandopadhyay, RTIICS, Mukundapur | Echo done, mild MR with thickened valve |
August, 2005 | Same | Same | Same |
August, 2005 | Joint stiffness, contracture of limbs | Dr. R Home Chowdhury, Kolkata | Advised for Physiotherapy |
8th Feb, 2006 | Dr. Biswajit Bandopadhyay, RTIICS, Mukundapur | Doctor informed that the Problem is different and referred to Dr. Apurba Ghosh for further diagnosis | |
13th Feb, 2006 | Joint stiffness, contracture of limbs, thickened valve | Dr. Apurba Ghosh, Director, ICH, Kolkata | ? MPS, advised for skeletal x-ray, done |
14th Feb, 2006 | same | Same | Test shown MPS disease, a rarest disease |
24th Feb, 2006 | CMC, Vellore | Pediatric Dept | Advised for 24 hour urine test, USG, eye test, ENT, related tests |
9 March, 2006 | Same | Same | MPS confirmed, enlarged Liver, eye is normal, ear is normal |
May, 2006 | Dr. Apurba Ghosh | MPS type test | |
May, 2007 | Same | Enzyme Replacement Therapy, costliest drug | |
September, 2008 | Abdominal hernia | Dr. Sangita Bhattacharya, Apollo, Kolkata | Operated, common symptom of MPS II |
November, 2008 | Sir Gangaram Hospital, Delhi | Dr. I.C.Verma and Dr. Ratna Puri | Advised Enzyme Assay for MPS type test, MPS-II (Mucopolysaccharidosis type II) confirmed |
January, 2009 | CMC, Vellore | Dr. Sumita Danda, Genetic | Follow-up, USG done result same, application sent to Shire |
Under the observation of Dr. Apurba Ghosh | |||
June, 2012 | SSKM Hospital, Kolkata | Dr. Kausik Mandal | Advised for Physiotherapy, ERT |
2nd March 2013 | Sir Gangaram Hospital, Delhi | Dr. I.C.Verma and Dr. Ratna Puri | Gene Mutation test, few other tests have been advised, not yet done. |
ArogyaUDHC