Tashkent, Uzbekistan – Podrobno.uz. The parents of little Leon from Tashkent have appealed to the people of Uzbekistan for help in saving their son. The three-month-old boy has been diagnosed with spinal muscular atrophy (SMA) type 1, a rare genetic disorder that leads to progressive muscle wasting. The only chance to halt the disease is the drug Zolgensma, which costs around two million dollars. However, in Leon's case, it must be administered before the child turns six months old.
The boy's mother, Anastasia, made the plea for help. According to her, the diagnosis was not given immediately, and during that time the disease managed to cause irreversible damage to his body.
Leon is currently receiving the drug Risdiplam, which the state provides to the family free of charge. The parents emphasize that they are sincerely grateful for this support. However, the drug only slows the progression of the disease and requires lifelong administration.
"Every day is a struggle. Instead of walks, first smiles, and peaceful nights, our life has turned into endless home resuscitation. Ventilator support, suctioning mucus, tube feeding, constant monitoring of oxygen saturation, and the fear that at any moment our son's condition could worsen. We dream of only one thing — that Leon stops living among medical equipment and can just be a child," Anastasia said.
According to the parents, specialists believe that Leon has good chances of receiving gene therapy. In the near future, the boy will undergo a special blood test in Moscow, which should confirm the possibility of administering the drug.
Additionally, doctors explained to the family that the lower the child's weight at the time of Zolgensma administration, the easier the body tolerates the treatment and the lower the risk of serious side effects. That is why therapy cannot be delayed.
The family cannot raise two million dollars on their own.
"Our people are incredibly responsive, merciful, and compassionate. I believe that together we can give my son a chance at life. No child should die from a disease that modern medicine can already treat," the boy's mother says.
To avoid any doubts about the transparency of the fundraiser, the parents have made an important statement in advance. If for any reason Leon cannot receive Zolgensma, all collected funds will be transferred to another child with spinal muscular atrophy.
The family promises to regularly publish reports on the receipt and expenditure of funds on Leon's Instagram page, as well as on the parents' personal social media pages.
Furthermore, Anastasia said she has compiled all of her son's medical documents in a separate Google document. As new examinations, tests, and medical reports become available, it will be regularly updated. The link to the document is also published on Leon's Instagram page so that anyone can review the medical documentation and course of treatment.
In conclusion, Anastasia asked everyone who can to help.
"Even if you cannot help financially, please share our story. Perhaps your repost will be seen by someone who can give Leon a chance at a life not dependent on lifelong therapy," she said.
Type 1 is considered the most critical, diagnosed in infants under six months. In this form, children cannot sit, and the risk of respiratory paralysis increases so rapidly that without emergency therapy, the prognosis remains extremely poor. Type 2 manifests later, from 6 to 18 months; such children can sit but are unable to walk, although with proper support the disease progresses more slowly. Milder forms — types 3 and 4 — are characterized only by gradual muscle weakness and have little effect on overall life expectancy.
Source: podrobno.uz