Child with Spinal Muscular Atrophy needs $ 2.1 million for treatment

Zuha Zainab, the child of Abdullah and Ayisha, a couple living in Coimbatore, has been diagnosed with a rare disease called Spinal Muscular Atrophy. Zuha who is 9 months old, needs a US-made 2.1 million dollars (Rs.16 crore) needle to save her. 

Previously Teera kamat, a child from mumbai, who was affected with Spinal Muscular Atrophy type 1 was successfully treated with an effective dose of Zolgensma. 

What is Spinal Muscular Atrophy?

Spinal Muscular Atrophy is a neuromuscular disorder that occurs as a complication to the progressive loss of SMN (Survivor Motor Neuron) proteins results in muscular atrophy and wasting.

SMN proteins are produced by two separate genes known as SMN 1 and SMN 2. About 70% to 90% of the SMN proteins are formed from SMN type 1 gene. SMN 2 depending on the subtype (I, II, III) that present in the cell, contributes to the functional SMN protein production.

Pathogenesis of Spinal Muscular Atrophy

While RNA splicing is critical for generating the hundreds of thousands of proteins that keep us alive, Splicing errors can lead to devastating health problems. One example is an often fatal disease that mostly occurs in infants is Spinal Muscular Atrophy. It is the number one genetic cause of infant death.

The SMN 1 gene which codes for SMN protein is missing or damaged beyond repair in SMA patients. Also SMN 2 gene is a poor back up because it produces very little functional SMN proteins. This deficiency stems from a mistake during RNA splicing.

Normal persons

SMG gene

↓

RNA copies that contain both Introns and Exons.

Eg. DRAWLKLAHLKDSBIGKMDCHOUSEHFBJONBDGTHEBDH

     CORNERVIROFBSHTHEHDJWIDEHDJSTREET

↓

Normal splicing

DRAW A BIG HOUSE ON THE CORNER OF THE WIDE STREET

↓

Translation to normal SMN protein

SMA Patients (These patients have lost their 7^th exon and forms a defective SMN protein)

SMG gene

(Familial or sporadic mutation)

↓

RNA copies that contain both Introns and Exons.

Eg. DRAWLKLAHLKDSBIGKMDCHOUSEHFBJONBDGTHEBDH

VIROFBSHTHEHDJWIDEHDJSTREET

↓

RNA Splicing error

DRAW A BIG HOUSE ON THE        OF THE WIDE STREET

↓

Translation to defective SMN protein

SMN protein which is needed for normal survival of motor neurons. So a considerable loss of these proteins in a neuron becomes defective and unstable. We know motor neuron supplies signals from Central Nervous System to the muscles. In this case there won’t be any signal transfer to the muscles. Leads to muscular atrophy and wasting common in legs and arms. In addition, the damage will be severe and fatal.

Globally, only one in 10,000 children develops the disease.

SMA develops in four different ways in which first can be severe in the first few months after birth, can weaken the body’s immune system and cause death by the age of one or two. This is exactly what happened to Zuha.

Clinical features of child with Spinal Muscular Atrophy

Clinical features include

• Muscle weakness and poor muscle tone (Muscular dystrophy)
• Frog leg position,
• Difficulty in sitting, standing and walking,
• Difficulty in sucking, poor feeding
• Absent reflexes, particularly in extremities
• Twitching of the tongue

Failure of respiratory system is the most common system to be affected and leading to deth of the child before the completion of two years.

Treatment of Spinal Muscular Atrophy

• Onasemnogene abeparvovec (Zolgensma) – Has a SMN 1 transgene, IV injection
• Nusinersen – Fixes the RNA splicing error, Intrathecal injection
• Risdiplam – Increses the functional SMN proteins, Oral liquid

At the Indian level, treatments for the disease are under research. Zolgensma injection is the only effective cure for the disease. Patients who receive this injection worldwide, seem to benefit the most. Doctors who are treating Juha are in the process of injecting $ 2.1 million worth of Zolgensma injection.

Words from Zuha’s mother Ayisha

“Our first-born baby boy had a rare form of spinal cord injury. Within a few months of birth, his arms and legs were weak. The baby died six months after the onset of the disease. At that time, we did not know anything about the disease and its treatment. Over the next two years, Juha was born. We lost our first child with Spinal Muscular Atrophy, and we’re glad the first son was born as a girl, but that happiness was shattered in a few months. “

“We did not know if Zuha was born with any vulnerability. We waited with many dreams of how she would be when she crawled and walked. Within a few months her arm and leg movements slowed down. We did a genetic test with suspicion. At the end of the test, the doctor said that Juha had the same disease,” said Aisha. , Suppressing a great cry and looking at Zuha’s face.

Zuha Zainab, a nine-month-old baby, attracts everyone with her beautiful baby smile without knowing anything about the effects of the disease.

Teera kamat – SMA child from Mumbai

Also Teera Kamat, a child from Mumbai, was recently diagnosed with the disease and is being treated. She was diagnosed with SMA type 1 during her 2^nd month.

Ayisha spoke to Teera’s mother through Facebook. She told her that my baby had the same vulnerability. She explained the challenges she faced and the possible treatments. She said she had been talking to Teera’s mother about the Zolgensma Injection and how did she manage to collect that much money in a short period of 4 months.

Fundraising through ImpactGuru Foundation

Zuha is also being funded by ImpactGuru, a non-profit organization that raises funds for Mumbai-based baby Teera. So far (March 14) only eight lakh rupees have been received as financial assistance.

“We have raised about 15 crores from people of different parts of the world for Teera. We were able to raise the money in about 100 days. Similarly, we are raising funds to save the life of Zuha Zainab from Coimbatore. Many people are donating money to Zuha online, “said Piyush Jain of ImpactGuru.