Help 7 year old Jazmin combat a rare neuromuscular disease

Hi, my name is Marcy and I'm raising funds for Paola so that she can pay for Jazmin's (her 7 year old daughter) medical expenses that she cannot afford.

Paola lives in Guatemala City, Guatemala. As head of household, she supports Jazmin, and her 14-year-old sister, Oneida. More importantly, Paola is in a personal battle that no mother should ever have to face.

For the past four years, Paola has been desperately trying to get a diagnosis and treatment for Jazmin, who has been physically deteriorating since she turned 3. Years of doctor visits, tests, medications, surgeries and therapies, but no honest diagnosis and no effective treatment, and Jazmin has continued to get worse.

Jazmin has begun to lose the ability to walk independently, her speech process has been diminished and her fine and gross motor functions have worsened. Paul has visited several doctors, none of whom have been able to offer Jazmin an accurate diagnosis.

An expensive genetic test performed in November 2024 (as the blood sample had to be sent to a specialized laboratory in Spain), suggests that Jazmin may have, Juvenile Amyotrophic Lateral Sclerosis type 4 (ALS-4), as well as Infantile Neuroaxinal Distrophy 1 and Neurodegeneration with Brain Iron Accumulation 2A/2B -- three very rare degenerative neuromuscular diseases in infantile ages, which have limited treatment options. In some cases there are no treatment options.

Since the genetic test samples of Jazmin were taken in November 2024, Jazmin's ability to walk has continued to deteriorate. She is also experiencing increased difficulty moving her arms, her ability to speak has worsened and other digestive and respiratory conditions have become evident. Over time, this disease, if it is one of the latter two identified in genetic testing, will progressively limit her locomotion, learning and verbal abilities.

The first week of February 2025, Paola took Jazmin to the Hospital San Juan de Dios to be evaluated by the Rare Diseases unit. This has been achieved thanks to the diagnoses expressed in the genetic test and has aroused the interest of a group of doctors who are hoping to arrive at a diagnosis that will permit treatment and therapy that allows Jazmin's stability. However this process may take several months. Paola is hopeful that, with a more accurate diagnosis, it will be possible to obtain the treatment and support that Jazmin needs.

In the meantime, Jazmin receives physiotherapy three times a week, occupational therapy and speech therapy once a week, and sees a psychotherapist once a week as do Paola and older sister Oneida. Jazmin is still able to go to school, although with limitations. Despite all this, Jazmin keeps a smile on her face and dutifully participates in the various treatments she receives.

As time goes on, and as Jasmin's body deteriorates, costs have increased for medications, physical aids to assist her (including a neurological wheelchair and braces), visits to private doctors, and transportation to and from appointments.

The current costs, estimated at $1,500 to $2,000 per month (which may increase over time as she awaits diagnosis) are beyond Paola's ability to pay, given that, as a single mother, she earns about $500 per month, which is barely enough to cover housing, food and other basic necessities for her and her daughters.

By freeing Paola from the increasing financial hardship she is currently experiencing, thus allowing her the time she needs to care for Jasmine and herself, I hope that Paola will be able to cope more effectively with the difficult reality she and her family are experiencing.