URGENT FUNDRAISING FOR  RIMMA MAKAROVA  FOR GENE THERAPY AGAINST INAD

The only child in Ukraine with the diagnosis of INAD.

This is the story of a small, strong girl named Rimma. And I will start it from the beginning.

Rimma was a long-awaited and absolutely desired child. Before we decided to become parents, we underwent all necessary tests and maintained a healthy lifestyle. My pregnancy was smooth and carefree, and I underwent all required examinations, screenings, and tests during pregnancy; everything was perfect. Our daughter was born on January 14, 2019, a completely healthy, large baby girl, and our happiness knew no bounds.

Rimma said her first “agu,” delighted us with her smile and laughter, made her first turns from her tummy to her back, sat up and stood according to her age, and her first words appeared: “Mama, Papa, Grandma.” We cherished every moment and captured it on camera.

Rimma’s development was like that of all other children, with no signs of trouble. Our carefree life lasted until Rimma turned one year old.

A month after her birthday, we ended up in the hospital with a common stomatitis. Rimma had a high fever that wouldn’t go down, and the nurses decided to give her an injection of dexamethasone and analgin, to which Rimma had a severe allergic reaction and remained unconscious for three days. Later, we learned she was in a superficial coma. After this, the disease began to appear and to progress.

Rimma stopped taking steps, lost her speech, and her condition was unclear; there was a regression. For six months, my husband and I did everything possible to restore the progress of our daughter; we visited all doctors, but they found nothing, all tests were normal. Thanks to our efforts, exercises, and rehabilitation, Rimma started walking again and could make about 20 steps with a “uncertain drunken gait.” This worried us a lot because the child had no balance, and at 1.6 years, we realized Rimma was developmentally delayed.

We raised the alarm and sought the best specialists, traveling to Kyiv to OHMATDYT’s neurological department. My husband was with our daughter, and they stayed there for two weeks searching for a diagnosis. All possible tests were conducted, and MRI of the brain showed the brain was slightly smaller than normal, while other tests were normal. For the first time, it was suggested it might be genetic, and several possible diagnoses were made, none of which were confirmed.

By age 2, Rimma completely stopped walking but could still say some words, sing melodies, and could only crawl. By age 3, we had visited nearly all doctors in various cities across Ukraine, and all were at a loss. By then, Rimma had lost the ability to crawl and fully speak.

In February 2022, when Rimma was 3.2 years old, we were forced to leave Ukraine due to the war. By chance, we ended up in Switzerland, where a family hosted us, to whom we will be forever grateful for their help and kind hearts.

We were assisted to get into the best hospital at the University of Zurich, where the neurologist in the department immediately suspected, unfortunately, this terrible diagnosis of INAD, and two months later, it was confirmed. We will remember this day for the rest of our lives.

The emotions we had to endure are indescribable. How is this possible? Two healthy people whose severely ill daughter was born! How could this happen? Why? For what reason?… These questions still haunt us.

We were informed that, unfortunately, our child is doomed, that such children live a maximum of up to 10 years. And there are currently no medications worldwide. Over time, her condition will worsen, her muscles will atrophy, she will not be able to move, will not be able to smile—how can one live without a child’s smile?

She will lose her sight, will not be able to eat or breathe independently… This information devastated us morally; you simply don’t know how to continue living, how to accept this, what to do, how not to go insane… “This is a dead end, there is no way out,” we told each other, looking into eyes full of pain…

After a few days, when there were no more tears to cry, we visited the website given to us by the doctor when we left the office. There, we discovered that parents of children diagnosed with INAD had come together and were fighting this disease together. How?

There are two organizations that have taken on the development of gene therapy. One is a non-profit organization in the USA, currently raising a large sum of money to begin clinical trials. The other is Bloomsbury Genetic Therapies, a state organization in London funded by the government.

Recently, similar drugs for a similar disease were released, costing tremendous sum of 2,875,000 pounds. [Link to article]

To not waste precious time, we launched a fundraiser for $2 million to purchase gene therapy as soon as it hits the market.

Fundraising turned out to be so difficult, challenging, and slow that we couldn’t even imagine it.

We tried to engage influencers and bloggers with large audiences, but unfortunately, only a few responded; no one wants to delve into someone else’s problems, many respond that it doesn’t concern them. The hardest part was hearing refusals for help requests. Because in my imagination, it was completely different; I thought if a few people with large audiences shared our story, the fundraiser would be quickly closed. In practice, it turned out to be difficult to knock on doors that aren’t opened.

But we do not lose hope. Hundreds of people with kind hearts support us. And we are grateful to each of you. Thanks to kind people, we have a small team of volunteers who help spread information daily.

We are always grateful for any support and information. You can become a volunteer for Rimma by dedicating 15 minutes a day to help share and spread our story.