Touching hearts: A Mumbaikar's brave fight against Rett Syndrome

Image for representational purpose only. Photo Courtesy: istock

Mumbai-based Kashish Mayekar is suffering from Rett Syndrome, a rare genetic neurological disorder, that usually affects brain development in girls. Earlier this week, the 20-year-old was admitted to the Apollo Hospital Navi Mumbai in CBD Belapur after suffering from multiple seizures on March 17.

In a phone conversation with mid-day.com from the hospital, Pranita Mayekar, mother of the Mumbaikar, stated, "My daughter has Rett Syndrome, and individuals with this condition often experience respiratory problems. She was admitted to the hospital due to severe seizures she had last Sunday. The doctor has now informed us that her left lung has collapsed."

The Mumbai youth, says Mayekar, is now undergoing Bronchoscopy, and if needed, Tracheostomy has also been suggested by the experts. "She has been kept in the ICU and on the ventilator for intubation for now," she adds.

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Mayekar highlights that her daughter first started getting seizures from the time she was two-and-a-half years old, when she was first diagnosed with the syndrome. While it is usually not frequent, she suddenly started getting it frequently, and that is when the family admitted her to the nearest hospital on an emergency basis after 12 am last Sunday.

As she is currently undergoing treatment, the costs are mounting. "When she wasn't kept on a ventilator, the hospital had said the estimated cost was Rs 6 lakh, but now, the hospital has given us the estimation of Rs 11 to 12 lakh," adds Mayekar. While they have been able to collect money for the initial treatment, it's now becoming a challenging task to fund the treatment."

Earlier this week, her husband, Pradeep Mayekar put out an appeal on ImpactGuru to raise funds for his daughter. The appeal reads, "My name is Pradeep Mayekar, and I come to you with a heartfelt appeal for help. My daughter, Kashish Mayekar, is battling Rett Syndrome, a rare neurological disorder that affects her daily life and development. She is currently undergoing treatment at Apollo Hospital, CBD Belapur, Navi Mumbai, where the cost of her treatment amounts to Rs 8 lakh."

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According to the International Rett Syndrome Foundation website, the syndrome usually affects girls, more rarely boys, and leads to severe impairments, affecting nearly every aspect of the child's life: their ability to speak, walk, eat, and even breathe easily. A repetitive hand movement is an important highlight of a person suffering from the syndrome. It is usually recognised in children between 6 to 18 months of age, as they begin to miss developmental milestones or lose abilities they have gained. Around the world, 1 in 10,000 females are affected by the syndrome, and the disability may range from mild to severe.

Dr. Vishal Chafale, consultant interventional neurology, Apollo Hospitals Navi Mumbai, who is treating the patient, says, "We are treating the girl with Rett syndrome presented with epilepsy, at the hospital. The seizures are well controlled with addition of anti-epilepsy medication and she is recovering well."

Chafale also deep dives into the syndrome.

What is Rett Syndrome?
Rett syndrome is a neurodevelopmental disorder. It occurs almost exclusively in females. It was first reported in 1966 by Andreas Rett, an Austrian pediatric neurologist.

The diagnosis is clinical with the help of clinical diagnostic criteria. Genetic test is available and supportive.

What are the causes of Rett syndrome?
Mutations in the MECP2 gene on the X chromosome. This gene encodes methyl-CpG binding protein-2, an essential transcriptional regulator in the brain required for normal neurodevelopment. MECP2 mutations causing RTT are usually spontaneous and as such are not expected to recur in families.

How does it affect a person?
The presentation is initially subtle in the first two years of life. There can be developmental delays and reduced body tone on examination. Subsequently, between 18 and 30 months of age there is developmental regression and onset of repetitive, purposeless hand movements.

Child develops partial or complete loss of acquired purposeful hand skills , spoken language. They also developed gait abnormalities. Peculiar for Rett syndrome is stereotypic hand movements such as hand wringing/squeezing, clapping/tapping, mouthing, and washing/rubbing etc.

They also develop atypical features over time like breathing disturbances while awake, bruxism while awake, impaired sleep, scoliosis/kyphosis, growth retardation, small cold hands and feet, inappropriate laughing/screaming spells, diminished response to pain, and intense eye communication: eye pointing. They are also prone to develop epilepsy.

What is the severity of the syndrome?
The severity of the syndrome is variable and some individuals with this syndrome achieve and maintain some functional skills.

What is the treatment procedure of the syndrome?
The treatment for this syndrome needs a comprehensive multidisciplinary team approach. It has therapy that promotes ambulation, balance, and importance of hand use. Cognitive Behavioural Therapy remains the main stay of treatment. Seizures need treatment with anti-epilepsy medications. There are few drugs approved by US FDA with some benefit.

Is there enough awareness about the syndrome?
The awareness about the syndrome is increasing day-by-day but it is still a neglected entity. We celebrate Rett Syndrome Awareness Month globally in the month of October. It aims to raise awareness about this rare disease.

Donation details:

NEFT / IMPS / RTGS
(Transfers to this account number would be allowed from Banks in India only)
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Account number: 2223330087028684
Account name: Kashish Mayekar
IFSC code: RATN0VAAPIS
Bank Name: RBL Bank
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UPI Handle:
supportkashish31@yesbankltd
Pay via GooglePay / PhonePe / UPI (Android Only): https://impactguru.com/s/iFU4mR
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Donations via YES UPI and RBL Bank Transfers are safe with ImpactGuru.

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