Thank you so much for taking the time to be here and read this. My name is Iryna Popady. I'm telling this story on behalf of my 12-month-old nephew Maksym from Ukraine. 31.08.2021, he was diagnosed with an extremely rare genetic disorder called Menkes Syndrome. It is an X-linked recessive disorder caused by mutations in genes coding for the copper-transport protein ATP7A, leading to copper deficiency.
It all started with the fact that Maxymko did not hold his head when he was 4-5 months old. Doctor prescribed him massages, but it did not help. Then he had seizures. Appropriate tests and ultrasounds were performed, but they showed that everything was fine. The seizures continued, the child no longer held his head or sat down, so he was assigned to perform a genetic test, which was sent to the United
States. After a long month of waiting, the result shocked everyone - Menkes syndrome (Menkes disease).
The basis of this neurodegenerative disease is that the intestines cannot absorb copper and very little enters the bloodstream to be utilized by the body. Therefore the brain and other parts of the body are deprived of this essential mineral, and normal growth and development cannot take place. Symptoms include developmental delays, failure to thrive, seizures, weak muscles and bones, and respiratory difficulties.
My cousin Sergiy and his wife Iryna began searching for a clinic that treats children with this diagnosis. Unfortunately, they have not found such clinics in Ukraine and other European countries. But finally, they found a clinic in the United States with a doctor who treats children with this type of disease. Opening a visa to the USA, living in the USA, daily tests and the medication itself are very costly expenses that the family cannot afford. Therefore, we ask everyone who can financially help to join this fundraising. I will send all the collected funds to my brother's account in Ukraine
Thank you from the bottom of my heart, and the hearts of those who love this little boy for all your donations!