Andorra's First Mosaic Turner Syndrome Case: Lulu's Brave Journey

Mari, a mother from Andorra, learned during her third pregnancy that her daughter Lucía—known affectionately as Lulu—had been diagnosed with Mosaic Turner Syndrome, a rare genetic condition. The diagnosis came after genetic tests prompted by her gynaecologist. Lulu, now 15 months old, is the only child in the country known to have this rare disease.

The news emerged on prenatal screening, leading to referrals to Barcelona's Hospital Clínic for further evaluation. Mosaic Turner Syndrome, a chromosomal disorder affecting females, involves cells missing one X chromosome or part of it. It typically causes short stature, early ovarian insufficiency, a short neck, and swollen hands and feet. Frequent ear infections can lead to hearing loss in some cases, while more severe "pure" forms bring heart, lung, or psychomotor issues. Lulu's milder mosaic variant has so far shown through recurrent pneumonias, bronchitis, and ear infections, along with slower growth.

The pregnancy proceeded normally for Lulu, though Mari endured constant vomiting and two hospital stays. Late scans revealed a smaller-than-average aorta, raising concerns about possible heart surgery at birth, but tests after her caesarean delivery showed her heart and vision were fine. Doctors now administer vitamin D to support bone development; growth hormone therapy—what some parents call the "miracle vitamin"—will begin at age two. This long, expensive treatment aims to boost height to around 140-150 cm, though she will not reach 180 cm. Ovarian hormone treatment may follow around ages 10-12.

Marking World Rare Disease Day on 28 February, Mari shared her story amid challenges in Andorra, where no prior cases existed. Local doctors sometimes lacked clear protocols, offering reassurances like "everything is fine" despite Lulu's weight struggles and infections. Mari pushed for specialised tests, leading to regular trips to Barcelona's Hospital Sant Joan de Déu and Vall d'Hebron. A recent visit there provided detailed guidance, with more follow-ups planned.

Support came via social media from the Turner Syndrome Association in Salamanca, Spain, connecting Mari with other families. They even considered relocating for better care. Emotionally taxing, the journey involves constant vigilance, though Lulu meets speech and coordination milestones for her age. Mari worries about her feeling different as she grows but notes her daughter's strong spirit: small but brave.