A disease too rare to work on. While there are chances for treatment development. We are not able to remain indifferent to such opportunities. Even if it means working for 3 jobs and entering completely unknown waters. We are parents of Lena who was diagnosed with an ultrarare genetic mutation in PACS2 gene. We want our daughter to be independent. We want her to live life to the fullest, to have friends, to fool around with Zuzia, her twin sister. Only a cure can give her that. Her and other children with the same diagnosis.

Our Story

Lena and Zuzia were born in September 2021. For three months we were just ordinary parents dying of exhaustion, depressed with children crying for no reason and melting because the little one smiled at 2 in the morning. We spent Christmas Eve with our family, my grandparents met their first (!) great-granddaughters. Life - despite constant sleep deprivation - was beautiful. Nevertheless, we will remember those Christmas for other reason. 

In the morning Lena woke up with a scream and a minute later she had her first epileptic episode, being in our arms… when on December, 31st, we were leaving a hospital, it was 30 episodes later. For several days she was unconscious, she was too weak to eat, each time she woke up, it caused new episode.  We came back home to completely different world. To completely different life.

We welcomed New Year with hope. All medical examination was “clean” – according to that Lena looked healthy, having infantile epilepsy of no origin. But despite admitting anti-epileptic drugs, three weeks later another series of seizures came…we realize only now, how dangerous it was for her. Not having excellent doctors’ care, she would not be in such a form today.

When we were discharged from the hospital again, our doctor said that the only thing we can still do is WES - Whole Exome Sequencing – which is the examination of the entire genotype responsible for protein coding. That didn't tell us much but we proceeded.

PACS2 syndrome

Mid-February 2022 the results came: a pathogenic variant in gene PACS2, in heterozygous state, the autosomal dominant mode. We understood exactly nothing but the description left no hope - „Key features of patients are moderate [8-10 years old] to severe [0-2 years old] intellectual disability, variable developmental delay [including limited or no speech], cerebellar dysgenesis and other central nervous system malformations, muscle hypotonia, facial dysmorphism, and behavioral disturbances [autism spectrum disorders]. 

Searching on Google did not help. A few dozen cases globally. Two in Poland where we live. 

Our PLAN

Currently there is no treatment for PACS2 syndrome and nobody is working on it. Or rather: no one did. The syndrome can become curable, maybe even in 3-4 years, but someone had to take care of it. In May this year, we registered PACS2 Research Foundation, which is the only foundation working for children with PACS2 syndrome in the world. Our main goal is to drive treatment development by financing and coordinating scientific research.

These are not just dreams of parents devastated by unexpected daughter’s condition. There are several dozens of similar foundations working for other genetic disorders. They work for millions of people suffering from - today incurable - rare diseases.

We have already managed to get in contact with incredible scientists and physicians. We are in touch with some parents leading similar organizations in the United States and we build on their experience. At the moment our biggest challenge is financing. Without it we cannot start off. We organize this fundraising action for the first phase of planned research. Before we can get grants or engage big corporations, we have to have some research and hypothesis in place. 

Below some useful links: 

Roadmap for treatment development: https://www.pacs2research.org/roadmap

If you want to get to know us better: https://www.instagram.com/misja_cud/