1-Year-Old Disha Is Suffering From A Rare Genetic Disorder That Leads To Progressive Mental Retardation | Milaap
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1-Year-Old Disha Is Suffering From A Rare Genetic Disorder That Leads To Progressive Mental Retardation

"I have quit my job. My entire focus is on saving my daughter. This is the priority for me and I will never give up." - Gowrisankar, father of Disha


1 and-a-half-year-old Disha is suffering from a very rare genetic disorder condition that affects vital organs, results in dwarfism or stunted growth and progressive mental retardation, ultimately leading to death frequently by the age of 10 years. Her only hope is a Bone Marrow Transplant that needs to be done immediately.

About Hurler Syndrome

Developmental delay is evident by the end of the first year, and patients usually stop developing between ages 2 and 4. This is followed by progressive mental decline and loss of physical skills. Language may be limited due to hearing loss and an enlarged tongue. 

Affected children may be large at birth and appear normal but may have inguinal (in the groin) or umbilical (where the umbilical cord passes through the abdomen) hernias. Growth in height may be initially faster than normal, then begins to slow before the end of the first year and often ends around age 3. 

Many children develop a short body trunk and a maximum stature of less than 4 feet. Distinct facial features (including flat face, depressed nasal bridge, and bulging forehead) become more evident in the second year. By age 2, the ribs have widened and are oar-shaped. The liver, spleen and heart are often enlarged. Children may experience noisy breathing and recurring upper respiratory tract and ear infections. Feeding may be difficult for some children, and many experience periodic bowel problems. Children with Hurler syndrome often die before age 10 from obstructive airway disease, respiratory infections, or cardiac complications.


Early this year, Disha's father Gowrisankar, a native of Coimbatore, TamilNadu moved to Chennai with his family to get his baby girl treated. It was after a recurrent cold in November last year, that Gowrisankar got worried. Disha then had a small swelling on her back, along her vertebral column.

Gowrisankar and his wife Ragini wasted no time and took Disha the very next day to a children's special hospital in Coimbatore -Disha was diagnosed with what was called Hurler Syndrome.

 
 

On meeting a neurologist and further, a genetician, and on receiving the results of the confirmatory tests, Disha was rushed to Apollo Hospitals, Chennai.


There are very limited treatment options for this disease - Enzyme therapy is one, gene therapy and a Bone Marrow Transplant. The first two treatments are extremely complicated and run into crores of money and were not promising and feasible options.

Gowrisankar worked as a sales executive for DJO Global, an international medical device and services company, out of Coimbatore, but left his job completely to focus on getting Disha the treatment she needs.

"I quit my job without thinking twice.I needed to give this my 100%. It is only because of quitting my job that we have come this far. We are racing against time here. Time is of the utmost importance. Disha requires to get this done before she turns 3 years old," said the 31-year-old father. His wife Ragini is a homemaker. 


Upon communicating and registering with the Lysosomal Storage Disorders Support Society, a non-profit body, the hospital and body Head of Department gave their go-ahead for a Bone Marrow Transplant for baby Disha, something not all children with this syndrome undergo.  

"By God's grace, my child was selected for the BMT." - GowrisankarThe next step involved looking for a donor. Gowrisankar and Ragini applied for the donor status, but were unfortunately rejected as donors as their samples did not match with those of Disha's bone marrow.

The family did not give up. Relentless efforts and luck helped the couple when they were informed by the hospital that Disha had found a match.


Disha now requires a Bone Marrow Transplant urgently.Gowrisankar and Ragini are tirelessly working towards ensuring that sufficient funds are available for the transplant. Your support can help this family save their baby.

Click here to support Disha's cause and give her a chance at life!






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