Siblings with Childhood Alzheimer's (Roman and Stella)

Summary

This heartfelt transcript captures a family’s journey navigating the challenges of Acid Sphingomyelinase Deficiency (ASMD), a rare genetic condition affecting their children, Roman and Stella. Despite a terminal diagnosis, the family focuses on providing love and care, cherishing each moment with their kids. As the children regress physically and mentally, the parents cope with grief and acceptance while celebrating small victories. Surrounded by extended family, the couple creates a support network to help their children live with dignity and joy. This emotional story highlights both the heartbreaking realities and the strength of family bonds in the face of adversity.

Takeaways

• 😀 Roman is described as a sweet, gentle child with a joyful personality, known for his love of books and laughter.
• 😀 Stella is a strong, independent little girl with a soft, loving side, who enjoys Disney movies, especially 'Paw Patrol' and 'Lion King.'
• 😀 Both Roman and Stella have been diagnosed with ASMD (Acid Sphingomyelinase Deficiency), a rare genetic condition leading to neurological decline, similar to 'Baby Alzheimer's.'
• 😀 The parents were blindsided by Roman's diagnosis after he began to show health issues, only to later discover they were expecting Stella, who also had a 25% chance of inheriting the disease.
• 😀 The disease causes rapid regression in children, taking away their abilities to eat, move, and speak by the age of 2-3, resulting in non-verbal children reliant on G-tubes and wheelchairs.
• 😀 Despite their limited abilities, Roman and Stella still experience joy, which their parents can sense through their eyes and non-verbal cues.
• 😀 The family's emotional journey includes both moments of grief, particularly as Roman and Stella's cousins reach milestones that the children will not experience, and moments of joy through their resilience.
• 😀 The parents prioritize giving their children love and fulfilling care, despite the terminal nature of ASMD, with the hope of providing them with as much happiness as possible.
• 😀 Roman and Stella’s parents express immense pride in their children's bravery during medical treatments, such as hospital visits and IV placements, which occur regularly.
• 😀 Family support plays a significant role, with the children’s cousins and extended family accepting them unconditionally, sharing moments of joy and love despite the heartbreaking circumstances.
• 😀 Therapy and emotional coping mechanisms help the parents manage their grief, teaching them to navigate difficult emotions without letting them dominate their lives.

Q & A

What is ASMD, and how does it affect Roman and Stella?

ASMD, or Acid Sphingomyelinase Deficiency, is a rare genetic condition that results in the accumulation of lipids in cells throughout the body. It primarily affects the liver, spleen, lungs, and, in severe cases, the brain. This causes neurological deterioration, similar to Alzheimer's disease, leading to the loss of motor skills, speech, and cognitive abilities.

What emotions did the parents experience when they received Roman's diagnosis?

The parents felt a range of emotions upon receiving Roman’s diagnosis. Initially, there was shock and fear, but it was compounded by the joy of expecting a new child, Stella. This made for an emotionally complex and heartbreaking time as they learned that their son was terminally ill, and their unborn daughter had a 25% chance of inheriting the same condition.

How did the family cope with the uncertainty surrounding Stella's health before her birth?

The family decided not to test Stella for the condition during pregnancy due to the potential risks involved with the tests. They chose to wait and have her tested immediately after birth. The hope was that she would not inherit the disease, but when the test results came back, there was a mistake, which caused further emotional turmoil.

What is the significance of the family’s decision to not find out Stella’s diagnosis in advance?

The decision to not test Stella during pregnancy was made out of a desire to preserve the joy of expecting a child and to avoid unnecessary medical complications. Ultimately, they felt that knowing in advance would not change their decision to have her and that Stella was 'meant to be' with them regardless of the outcome.

How has ASMD affected Roman and Stella's development?

ASMD caused Roman and Stella to lose developmental skills quickly. Between ages one-and-a-half to two-and-a-half, both children lost their ability to eat by mouth, became non-verbal, and required wheelchairs for mobility. The disease caused a fast and severe neurological decline, taking away the skills and abilities they had once mastered.

How do Roman and Stella communicate and show emotions now, despite their condition?

Roman and Stella may no longer smile in the typical sense due to their condition, but their parents can still recognize their emotions through eye contact, small facial expressions, and vocalizations. The parents have learned to read these non-verbal cues and understand when their children are happy or engaged.

What role does family play in Roman and Stella’s lives?

Family plays a central role in Roman and Stella’s lives, providing support, love, and joy. The children are particularly close to their cousins, especially Nora, who is of a similar age. The family’s involvement helps ensure that Roman and Stella have a fulfilling, surrounded life, filled with connection and affection.

How has the disease affected the relationship between Roman, Stella, and their cousin Nora?

Despite the challenges of watching Roman and Stella regress due to ASMD, Nora has been a constant in their lives. The children have grown up together, and Nora has accepted them as they are, without needing to fully understand their condition. This has allowed for a beautiful bond between the cousins, despite the differences in their developmental stages.

What are some of the difficult moments the family experiences as Roman and Stella’s condition worsens?

The family faces moments of intense grief when they witness milestones that Roman and Stella will never reach. For example, when Nora began walking unassisted, it was both a happy moment for her and a painful reminder of what Roman and Stella had lost. These emotional challenges are a consistent part of the family’s journey, though they have learned to cope with them.

How do Jill and Donald approach their grief and the future with their children?

Jill and Donald acknowledge their grief but have learned not to dwell in it. They embrace every moment with Roman and Stella and focus on providing as much love and care as possible. They’ve found therapy to be a helpful tool for managing their emotions and ensuring that they don’t let grief define their daily lives.