KAT6 Italy Association
The KAT6A Italia Association
Who we are
The associations and
and Foundations
The first KAT6A Foundation, in the US, was founded in 2017 by a small group of parents of children with KAT6A mutations. At that time, there were fewer than 50 known cases of KAT6A. Within 5 years, the patient numbers increased to over 370 known cases of KAT6A worldwide. In 2020, the American KAT6A Foundation began fostering connections with the KAT6B community and in 2022 it became the KAT6 Foundation, an organization dedicated to understanding mutations in the KAT6A and KAT6B genes. Today, there are more than 500 known cases of KAT6 syndrome worldwide. In the meantime, national associations and foundations have begun to emerge, including the KAT6A Foundation Austria (Zebra Kinder Foundation) in 2019, which supports families in Austria, Germany and Switzerland; the KAT6 France Association in 2023, the KAT6A Portugal Association as well as our KAT6 Italia Association in August 2023.
Our mission
The KAT6 Italia association supports people living with KAT6A and KAT6B syndromes and their families. KAT6 Italia promotes information on the tools, activities and support that a patient needs. KAT6 Italia raises funds for research on this disease and promotes scientific research to gain knowledge of the molecular mechanisms underlying the pathology and to develop treatments to resolve or alleviate the symptoms of KAT6 syndrome.
KAT6A and KAT6B syndrome
History and research
KAT6 syndromes are ultra-rare diseases resulting from mutations in the KAT6 genes. KAT6 genes are known as epigenetic regulatory genes that can unwind our DNA to make the right genes available at the right time for our bodies to function properly. The DNA inside our cells is tightly wound like the thread of a spool. The timing of our DNA unwinding, to allow our genes to perform their function at the right time, is critical to their development. Therefore, KAT6 genes do not just play a small role, but control the function of a wide variety of genes in our chromosomes. Studying the function of the KAT6A and KAT6B gene will increase our overall knowledge of more systems in the body to create more possibilities for providing better outcomes for all. Children with KAT6 syndrome will bring a wide range of challenges as each case is unique. Some individuals will require much more support, while others may have mild health and developmental delays. Scientists cannot yet fully explain this variability; However, there is some evidence that the location of the mutation on the genes is a strong determinant of symptom severity. This is called the genotype-phenotype correlation.
Recent diagnosis?
It is recommended that anyone diagnosed with a KAT6 gene mutation see a cardiologist to rule out any structural heart problems. Monitoring weight gain throughout childhood is important. Feeding difficulties and reflux are common and may require significant medical support from a gastroenterologist. Your GE doctor can also help manage constipation, which is a common feature. It is also important to have your child's vision evaluated by a specialist and monitored annually since eye problems occur in 60% of known cases. If your child has recurrent infections, discuss an immunological test with your doctors. KAT6B patients should have kidney and thyroid function tests. Consider a sleep study if you notice signs of sleep apnea or sleep dysfunction. Other tests to consider include an abdominal ultrasound, audiology evaluation, and an MRI of the brain. Discuss these tests with your child's pediatrician.
THE COMMUNITY
Connect with others
“Before my son was diagnosed with KAT6A, I thought we were alone on this journey. The sleepless nights, the GI issues, the surgeries, the unknowns were overwhelming to say the least. After joining the KAT6 community and Facebook support group, I finally felt there was hope, relief, and comfort in knowing we were not alone. The commonalities our children have had have blown me away, and the insight and guidance of parents have helped guide many difficult decisions and led us in the right direction for other decisions. The work of the KAT6 Foundation is by far the most important research and education of our lives. There is no better way for us to support the foundation than through fundraising efforts that directly impact our son.”
We want to convey correct scientific information but also help families to benefit from the support they need.
Without a diagnosis there is no cure but to have a cure we need scientific research. The KAT6 Italia association wants to seek funds to finance research into a cure for this disease. We all know that rare diseases are not interesting for big pharma as the investment in research will never be returned to them in terms of revenue from the sale of the drug developed because this is a very rare disease and patients are very few. But our children are precious and, through our efforts (fundraising for Telethon to which we are associated; collection from 5 per thousand and membership) and our voice we want to climb this mountain and achieve something great
HELP US!
SUPPORT US
Donate directly to the KAT6 Italia Association by paying into the association's account
IBAN: IT42T0538746480000004054850
Use 5x1000
Tax Code: 93064560043
BECOME A MEMBER
Lifetime Membership Fee: 5 euros to be paid into the association's current account
IBAN IT42T0538746480000004054850
After the payment, by communicating an email address to Monica Dettin (SMS to 3492452515) you will be notified of the membership card number.
Contacts
Connect with others
You can find us here...
500 Terry Francine St.
San Francisco, CA 94158