04/02/13 Plymouth Kiwanians have come to the aid of a child suffering from a very rare disease. Four-year-old Lilly Sammartano of Bourbon suffers from Pitt-Hopkins Syndrome, or PTHS. Lilly is just one of two cases of PTHS in the state and one of 250 world-wide. It is caused by a mutation in, or, the complete or partial deletion of, the TCF4 gene on the 18th chromosome.
Lilly’s mother Etta says doctors were at a loss to find the cause of Lilly’s issues. Through extensive personal research on-line, Etta was able to determine Lilly was likely suffering from PTHS. That diagnosis was confirmed with a micro-array test at the Riley Children’s Hospital in Indianapolis.
PTHS leaves Lilly with developmental delays such as the inability to speak, walk, crawl, or feed herself. She is beginning to communicate with limited sign language. She requires special adaptive equipment and care to interact with her environment. Lilly has to undergo physical therapy to progress in her developmental milestones. Etta says the physical therapy also gives Lilly a sense of belonging. Much of the adaptive equipment and services place the family in a financial burden as insurance only covers 20 therapy sessions per year. Etta says Lilly really needs to go weekly to continue to progress in her development and rehabilitation.
Plymouth Kiwanians heard about Lilly’s plight and they knew they had to help. The Kiwanians have donated the equivalent to the cost of three therapy sessions for Lilly at Apex Physical Therapy in Plymouth. Co-Owner and therapist Rosie Regedanz says the two have developed a special bond over the past two years. Lilly now trusts Regedanz to do the therapy she needs. Lilly also works with speech therapy in the school setting. Etta says Lilly has made tremendous progress since she started therapy at Apex and she hopes it can continue.
Lilly’s mother says the PTHS on-line support group has been her savior. It helps her to find new ways to care for her child and it is a place that she can network and brainstorm regarding her ideas with others regarding issues, problems, concerns effecting the PTHS child. You can learn more about PTHS and the support group on its website at www.pitthopkins.org.
Kiwanis is a global organization of volunteers dedicated to changing the world, one child and once community at a time. The Plymouth Kiwanis meet each Tuesday at noon at Christo’s Banquet Center in Plymouth and interested new members are always welcome. For more information contact Tom Sibal at 935-8442.
Pictured: 1st row, Rosie Regedanz, physical therapist, Lilly Samuelson, 2nd row Tammy Boys, President-elect of Plymouth Kiwanis., Alison Murphy, speech therapist, Angie Stults, Kiwanis treasurer, Etta Samuelson, Lilly’s mother