Delhi Girl Defies Odds: Walks Again After Groundbreaking Surgery for Rare Bone Disorder

In a remarkable medical breakthrough, a nine-year-old girl from Delhi, Rekha (name changed), has regained the ability to walk after years of battling a rare and debilitating bone disorder. Her journey, marked by significant challenges and groundbreaking surgical intervention, has provided new hope to children with similar conditions. Rekha’s case, which involved a complex combination of neurofibromatosis type 2 (NF2) and congenital pseudoarthrosis of the tibia (CPT), has not only garnered attention due to the rarity of her condition but also highlighted the resilience of medical professionals in overcoming difficult odds.

Understanding the Rare Condition

Rekha’s condition was rare in more ways than one. Neurofibromatosis type 2 (NF2) is a genetic disorder that leads to the development of non-cancerous tumors on the nerves, primarily in the brain and spinal cord. The disorder affects approximately 1 in 33,000 individuals globally and can result in a variety of neurological issues. The second aspect of Rekha’s condition, congenital pseudoarthrosis of the tibia (CPT), involves the improper healing of the tibia, the larger of the two lower leg bones. This results in the creation of a false joint (pseudoarthrosis) and can lead to severe bone fragility and bowing of the legs.

CPT itself is a rare condition, affecting roughly 1 in 250,000 live births worldwide. However, in India, it is believed that many cases remain underreported due to a lack of awareness and diagnostic facilities. CPT can be severely disabling, with many children suffering from compromised mobility, pain, and constant risk of fractures.

For Rekha, this combination of NF2 and CPT resulted in a severely limited quality of life. From birth, she experienced extreme bowing of her legs, which made walking and even standing independently a near-impossibility. Over the years, her family sought medical help, but despite multiple surgeries, her condition showed little improvement. By the time Rekha turned six, her bones had failed to heal after surgery, leaving her with fragile and non-healing limbs.

The Struggles and Challenges Faced by Rekha and Her Family

Rekha’s parents, devastated by their daughter’s condition, had been navigating a complex and frustrating medical journey. They visited several hospitals and consulted multiple specialists in the hopes of finding a solution. However, each surgery or intervention was unsuccessful, and Rekha’s bones remained weak, fragile, and prone to fractures.

At the heart of the challenge was the non-union of bone ends—a situation where the two ends of a fractured bone do not heal together as expected. Additionally, Rekha’s bone marrow was unusually thin, contributing to the weak structure of her bones. Doctors explained that even if her bones could be treated and healed, the risk of refracture would remain exceedingly high. With each failed treatment, Rekha’s chances of walking again seemed increasingly slim.

The hope rekindled when Rekha’s parents sought treatment at Aakash Healthcare, a multi-specialty hospital in Delhi. Here, a team of experienced orthopedic surgeons led by Dr. Vikram Khanna, Senior Consultant in Orthopaedics, and Dr. Aashish Chaudhry, Director & Head of the Department of Orthopaedics, decided to take a multi-faceted approach to Rekha’s treatment. The solution involved an intricate combination of surgeries and specialized equipment.

A Multi-Step Surgical Breakthrough

The medical team at Aakash Healthcare approached Rekha’s treatment with a comprehensive, multi-step surgical strategy designed to address the complexities of both her NF2 and CPT conditions. The goal was not only to repair the damaged bone structure but also to create a lasting solution that would enable Rekha to walk independently. Here’s a breakdown of the multi-step procedure that was implemented:

1. Removal of Abnormal Tissue Growth: The first step in the procedure was the removal of abnormal tissue growth (hamartomas) from Rekha’s legs. These growths, which are a result of the neurofibromatosis, were inhibiting the healing process and needed to be eliminated to ensure proper bone healing.
2. Bone Graft for Healing: After clearing the abnormal growths, the surgical team performed a bone graft, a procedure where healthy bone tissue is transplanted to stimulate healing in the affected area. This graft was essential for promoting bone union, especially considering Rekha’s weak bone structure.
3. Insertion of Titanium Elastic Nailing System (TENS): To stabilize the tibia, which was severely affected by pseudoarthrosis, a Titanium Elastic Nailing System (TENS) was inserted into Rekha’s leg. This nail helped secure the bone and prevent further deformation or fractures.
4. K-wiring for the Fibula: To provide additional support to the fibula, Rekha’s other lower leg bone, the surgeons used K-wiring. This technique involves the insertion of wire to hold the bones together, ensuring proper alignment during the healing process.
5. Ilizarov External Fixator: One of the key elements of Rekha’s treatment was the use of an Ilizarov external fixator. This specialized device was applied to maintain bone alignment and facilitate healing over an extended period. The Ilizarov frame was kept in place for six months to ensure that the bones fused correctly.

Throughout this phase, Rekha was encouraged to start walking using a walker. The gentle weight-bearing exercises were instrumental in strengthening the healing bones and stimulating the regrowth of healthy tissue. This approach required a great deal of patience, but the results were promising.

The Road to Recovery: Challenges and Optimism

After the surgery, Rekha’s progress was closely monitored by her medical team. Over the next several months, doctors conducted regular X-rays to check the status of her bones. The Ilizarov frame was gradually removed once the X-rays confirmed that the bones had healed adequately and union had been achieved. Despite the positive outcome, Rekha’s recovery was far from over.

Her tibia will require ongoing support to ensure proper healing. TENS nails will remain in her legs until she completes her growth spurt, minimizing the risk of refracture. Additionally, Rekha will need to wear a plaster cast or brace for the next five to six years to protect her healing bones and prevent injury.

Doctors have also emphasized the importance of regular follow-ups, with routine X-rays every six months to monitor her bone health. Rekha’s rehabilitation will be gradual, involving continuous support and physical therapy. However, with the progress she has made so far, her doctors are optimistic that Rekha will lead a functional and active life in the future.

Bone Deformities: A Global and Indian Perspective

Rekha’s case draws attention to the broader issue of bone deformities, particularly rare skeletal disorders like CPT. According to the World Health Organization (WHO), congenital anomalies, including bone deformities, contribute to around 6% of neonatal deaths worldwide. In India, these conditions are a significant concern, especially given the country’s large population. Studies have shown that many children suffer from skeletal dysplasias, often due to lack of awareness, delayed diagnosis, and limited access to healthcare facilities.

In a study conducted in Karnataka, researchers found 169 cases of skeletal dysplasias, with 88% of them affecting children. The rise of bone tuberculosis, another contributor to deformities, has also been reported, with the condition affecting 5-10% of the 1.5 million tuberculosis cases reported annually in India.

While Rekha’s case represents a success story, it also highlights the need for increased awareness and specialized care to treat children suffering from rare bone disorders. Early diagnosis, coupled with advanced surgical techniques, can help children regain mobility and improve their quality of life.

Rekha’s journey from a child unable to walk to one who now has the chance to live an independent life serves as a beacon of hope for families facing similar challenges. Through the dedication of her medical team and the support of her family, Rekha has overcome what once seemed insurmountable. While her recovery is ongoing, her case is a testament to the power of modern medicine and the resilience of the human spirit.