Ivan and Ilya Shkoda

Diagnosis of the child

congenital Eaton-Lambert syndrome secondary to heterozygous mutation in CHAT gene

Congenital myasthenic syndromes (CMS) are a heterogeneous group of early-onset genetic neuromuscular transmission disorders due to mutations in proteins involved in the organisation, maintenance, function, or modification of the motor endplate (endplate myopathies).

CMS are clinically characterised by abnormal fatigability, or transient or permanent weakness of extra-ocular, facial, bulbar, truncal, respiratory, or limb muscles.

Cardiac and smooth muscle are usually not involved. Severity and course of disease are highly variable, ranging from minor symptoms to progressive disabling weakness. 

The purpose of the collection

acquisition of medicament Firdapse

History of the child

Brothers Ivan and Ilya Shkoda have a rare genetic disease – congenital Eaton-Lambert syndrome secondary to heterozygous mutation in CHAT gene. This disease is manifested by muscle weakness.

Congenital syndromes are characterized by fatigable weakness of skeletal muscle (e.g., ocular, bulbar, limb muscles) with onset at or shortly after birth or in early childhood.

 

« In 2020 doctors recommended taking the expensive drug Firdapse, which helps the nerve impulse from the brain get to the muscle. Thanks to UniHelp and thanks to donations  children received the right medicine for a year. And the results of this reception were very positive.», —Eugenia, Ilya ‘s mother shares.

Now doctors also advise the following thing: intake of medication Firdapse for Ivan and Ilya, but it cost is too much for Shkoda ‘s family —  85 800 EUR.

 

Parents are unable to collect such sum on their own.

Only together we can help Ilya and Ivan to host a fulfilling life!

 

Collecting is closed (05.08.2021).