The Challenges
"These challenges represent just a fraction of what Zoya was experiencing. The issues related to Type II Collagen come with varying severity levels, and each child experiences them differently. While respiratory challenges posed the most significant obstacle for Zoya, there were additional aspects in the queue awaiting resolution.”
Respiratory Distress
Children with Skeletal Dysplasia - Type 2 Collagen are born with a small chest, which restricts the normal functioning of the lungs. Additionally, infants with this condition experience shortening of their long bones, including the arms, thighs, and rib cage. Baby girl Zoya often experiences respiratory distress due to her small chest size, causing her lungs to fatigue as they support her entire body within limited space for inflation.
Cervical Spine Instability
Zoya also faces the challenge of cervical spine instability, a condition demanding cautious measures. She is advised against flexing her neck until the neck gap widens or natural ossification. Any premature attempt to flex her neck could pose risks, potentially crowding her spine, risking damage to brain nerves, or triggering a lifetime of back joint pain and stability.
Bilateral Clubbed Feet
Because of the shortening of Zoya's long bones, she may need walking support when she begins to walk, as her body weight will heavily depend on her hip bones rather than her thighs and Zoya's legs are bowed inwards, and she has bilateral clubbed feet
Central Cleft of Soft Palate
Zoya has a cleft palate, a congenital condition characterized by an opening or gap in the roof of the mouth, known as the palate. This gap occurs when the tissues forming the roof of the mouth do not fuse completely during fetal development, leaving an opening that can extend into the upper lip. The result is a separation between the oral and nasal cavities, which can affect speech, feeding, and, in some cases, ear health. Zoya has it on the roof of her mouth, deep down.
Retinal Detachment
Regular vision check-ups every six months are essential for Zoya as individuals with Type II Collagen are prone to retinal detachment. This condition can affect a baby's vision if not promptly addressed. Furthermore, hearing tests are necessary, as this condition can also affect auditory functions.
Aspiration with Bolus Feeds
Zoya faces a high risk of aspiration during feeding. Aspiration occurs when food or liquid enters the airways instead of the stomach, posing a risk of respiratory complications. The feeding tube (NG tube - Nasogastric Tube) allows for a safer and controlled delivery of nutrition and medications directly to the stomach, minimizing the risk of aspiration. This approach is particularly crucial for individuals like Zoya who may have difficulty swallowing or managing oral intake. The feeding tube ensures that Zoya receives the necessary nutrients and medications without compromising her respiratory health. It provides a reliable and efficient method of delivering essential elements to support her overall well-being.
