A Christmas Morning with Edith
Christmas morning dawns in a cozy Swedish kitchen, where seven-year-old Edith Sigvardsdotter enthusiastically demolishes a chocolate Santa for breakfast. Her three-year-old brother, Werner, eagerly opens the final door of his advent calendar. Their parents, Erika and Jonas, navigate the morning bustle, attending to the children, brewing coffee, and preparing the dough for Christmas bread. Edith, the spirited instigator of the day’s festivities, had ensured an early start for everyone, excitedly anticipating the arrival of Santa Claus, a figure she firmly believes in, having played the role of an elf herself the previous year.
Edith’s unwavering belief contrasts starkly with a rare reality – she is one of only a handful of children in Sweden living with Morquio syndrome, a genetic disorder that hinders normal skeletal growth. While Werner playfully explores his surroundings with toys and books, Edith attempts a covert mission to open a Christmas present, a testament to her spirited nature despite the challenges she faces. She acknowledges her younger brother’s growth spurt, playfully referring to him as "långebror" (tall brother), as he has now surpassed her in height, a poignant reminder of the impact of her condition.
The Shadow of a Rare Disease
The odds of inheriting Morquio syndrome are one in a million, but both of Edith’s parents carried the rare gene. Four years prior, the family had shared their story, revealing the initial signs of the disease when Edith was just three years old, requiring clothes meant for much younger children. Since then, she has grown only a few centimeters, reaching a height of 83 centimeters, with doctors predicting only minimal further growth. Her parents had expressed their anguish over the disease’s potential to cause increasing suffering, particularly given the existence of a medication that could potentially slow its progression and alleviate symptoms. However, this treatment remained unavailable in Sweden, primarily due to its high cost.
The family’s Christmas morning unfolds with a mix of typical holiday cheer and the subtle presence of Edith’s condition. A momentary meltdown over delayed present-opening is averted with the distraction of carrot sticks and a comforting story. When the gifts are finally unveiled, Edith’s delight is palpable as she receives unicorns, a joke book, and a massive Lego set, a shopping center that she enthusiastically declares will take days to build. Werner receives a toy excavator, while their parents exchange practical gifts. Edith shares jokes from her new book, radiating a positive spirit that belies her health struggles.
Hope for Treatment and Advocacy for Change
Beyond the festive atmosphere, the story underscores the broader issue of access to treatment for rare diseases in Sweden. Reports indicate that the country has been disproportionately slow in providing medications for rare congenital diagnoses. A government-commissioned investigation by the Dental and Pharmaceutical Benefits Agency (TLV) is underway, with a report expected in early January outlining measures to address this disparity. While the specific proposals remain confidential, there is optimism within the rare disease community that the report will lead to positive changes, particularly for those with the rarest conditions, improving access to vital medications.
Edith’s story extends beyond her personal experience with Morquio syndrome. She exhibits a remarkable social consciousness, having even established her own political party, the “Rullstolspartiet” (Wheelchair Party), for the 2022 elections. The party’s central slogan, "Everyone should have the right to enter," highlights the issue of accessibility, particularly regarding high thresholds. Other planks in her platform include environmental protection, reducing urban traffic, and discouraging smoking, demonstrating an awareness beyond her years.
A Christmas of Hope and Resilience
As Edith immerses herself in building her Lego shopping center, her mother reveals the family’s past consideration of moving abroad to countries like Norway or Lithuania, where the medication for Morquio syndrome is available. Now, they pin their hopes on the forthcoming TLV report. The prospect of treatment offers a glimmer of hope, although tempered by cautious optimism. Despite the uncertainty, Edith’s mother expresses gratitude for her daughter’s current well-being, acknowledging that the disease could have had a more severe impact on her breathing or mobility. The potential medication offers not a cure, but the promise of increased energy and stamina, allowing Edith to more fully participate in life’s everyday joys.
The Christmas celebration continues with the arrival of extended family, the warmth of glögg, and a traditional Swedish Christmas feast. Amidst the festive bustle, Edith’s joy is infectious as she discovers a Lego figure with a pink prosthetic leg and a handicap-accessible restroom in her Lego shopping center. Her story becomes a testament to the resilience of the human spirit, the power of hope in the face of adversity, and the importance of advocating for access to life-changing treatments for those living with rare diseases. The Christmas gathering encapsulates the essence of family, love, and the shared hope for a brighter future for Edith and others like her. It also brings to the forefront the ongoing struggle for equitable access to essential medications and the need for continued advocacy for those living with rare conditions.
