Our family is from Ukraine. Our son Mark was born in December 2021, and he is now 4 years old.
Mark is a very friendly, active, and curious child. He is interested in everything around him, especially insects and
bugs – he can spend a long time observing them. He is very attentive to detail. He loves movement, exploration,
and new experiences, and every day he discovers something that excites him.
But it was not always like this.
The first signs that something was wrong appeared when Mark was 2 months old. He suddenly started refusing to eat and became very weak.
His blood tests showed inflammation, and an X-ray indicated bronchitis, even though he had no fever. He was prescribed antibiotics, but his condition did not improve after treatment.
He continued to eat poorly, gain weight slowly, and developed reflux.
At 3 months, new symptoms appeared – red cheeks. At first, allergies were suspected, but this was not confirmed. Doctors reassured us that these were individual characteristics -that some children are simply picky eaters or have sensitive skin. I tried to accept this, but deep down I felt something was wrong and continued searching for answers. At 9 months, wounds appeared on Mark’s legs, fingers, and cheeks. They did not heal, even with steroid treatment. At that time, systemic lupus was first suspected.
A skin biopsy was performed, but the result was inconclusive – “suggestive of lupus, but not confirmed.”
Standard treatment was prescribed, but it was ineffective.
We spent a long time in different hospitals without a clear diagnosis or effective treatment. Many tests and
examinations were performed, including a full-body MRI.
When Mark was 1 year old, we met an immunologist who suspected SAVI and recommended genetic testing. At that time, such testing was not available in Ukraine, so we sent samples to the United States. Due to complex logistics related to the war, we received the results when Mark was 1 year and 2 months old. That is when the diagnosis was confirmed.
Mark is the only child diagnosed with SAVI in Ukraine. At that time, there was very little information available about this condition, and most of what we learned came from our doctor. Receiving the diagnosis was extremely difficult, but also brought relief. After a long period of uncertainty, we finally
understood what we were dealing with and where to go next to help Mark.
The greatest support for our family at that time was Mark’s immunologist. His sincere willingness to help remains, to me, the purest expression of human kindness I have ever experienced. Since then, our lives have changed completely.
In Ukraine, there are no medications required for Mark’s condition, so in 2024 we moved to the United States. He began therapy when he was 2.5 years old. At that time, he was very small and weak. For example, he could not climb stairs without support or jump. Now he is 4. Over this time, he has grown and become stronger and started eating better.
Outwardly, he does not look different from his peers. His skin is still slightly red, and he has scars on his fingers and feet, but this does not affect his daily life.
Here in the United States, the community is very accepting, which I am deeply grateful for. He is accepted as he is, and this is very important for building trust in the world. He attends school and various activities, has many friends, and is very social.
He receives injections every 4 weeks, and otherwise he has a completely normal childhood.
Of course, this has not been an easy journey. Leaving your country, family, home, job, and everything familiar is never easy. Every decision has consequences and a cost. But I also believe that being happy or suffering is, in a way, a choice. We were able to be happy with a sick child in Ukraine during a war, and now in the United States – where it is safe and where Mark has access to treatment – it is easier to be happy.
This is a very unique experience. You cannot be fully prepared for it in advance, and there have been many difficult moments, and many more are still ahead. But love, mutual support, and a shared purpose are our strength. I believe the three of us are a good team.
Because Mark’s condition is so rare and there was very limited publicly available information, we began searching for additional knowledge on our own. We found a Facebook group where parents of children with SAVI share information and experiences. There we also learned about FORGE. This group became a source of support for us, as parents there understand each other’s experiences like no one else can, since they are all going through similar journeys. We received a lot of support, hope, and information there.
This is also why I am writing this – I want our story to give hope to someone who is losing it, and strength to
someone who is close to giving up.
This journey has taught me that even when the future seems predictable and controllable, it can change in an instant. We never planned to leave our home country, but in the end we left everything – family, friends, work, and home – and are now starting our lives again in a new place.
That is why it is difficult for me to define what our future looks like. I only wish for us to be together, safe, and for Mark to continue having access to treatment until a cure is found. Preserving his health until that time is our main goal.
Research is ongoing, and I am deeply grateful to everyone involved in finding treatments. These are extraordinary people, and they give us hope.
To a general audience, the term “rare disease” can sound frightening. That is natural – people fear what they do not know or understand. I was also afraid. But the more I learned about Mark’s condition, about other children and adults with the same diagnosis, and about ongoing research and treatment approaches, the less frightening it became, and over time it became part of life. I would not say I have fully accepted it, as I still worry a lot about medication availability and access, but I am grateful that things are as they are today.
Along this path, we have met many kind people – doctors, volunteers who brought immuno-suppressive medications from the United States to Ukraine, people who welcomed us into their home when we first arrived in the U.S., and many others. I believe God works through people, and our family truly knows how much goodness exists in this world.
To those just beginning this journey, I would say what I wish I had heard four years ago: trust yourself. If you feel something is wrong with your child, keep searching – even if everyone tells you everything is fine. And love. Only through love can you find strength and meaning. Even if sometimes that love means holding your child tightly while doctors perform painful procedures, knowing it hurts them, but also knowing it is necessary to help them.
I am sending a hug to everyone reading this. You are not alone.