Family Fights For Little Daughter's Life

WINTER HAVEN | Kaitlyn Samaro was just like any other healthy baby when she was born. It wasn't until the 6- to 8-month mark that Ed and Kim Samaro noticed something was wrong with their daughter.
Kaitlyn wasn't crawling and her development of vocabulary wasn't where her parents thought it should be. At first their pediatrician told them to just give it time; maybe she was slow to develop.
Over a couple of months, he began to have his own doubts, so the Samaros were sent to a pediatric neurological doctor in Lakeland when Kaitlyn was about 10 months old.
She started physical therapy at Pediatric Therapy Services in Lakeland twice a week and then started going to speech therapy.
Finally, their doctor ordered a genetic test and about a week and a half later, the Samaros got the phone call: Kaitlyn has Rett syndrome.
Rett syndrome mainly affects girls, said Kaitlyn's pediatrician , Dr. Raul Alvarez of Winter Haven.
It is a mutation that happens during conception with the MECP2 gene that is found in the X chromosomes.
The MECP2 is like a binding protein that helps the brain send signals to the body and helps development, said Ed Samaro. The mutation disrupts the connection with the brain cells. It is almost like the most severe form of autism, Samaro said.
Right now, there is no cure, Alvarez said. "There's no specific medicine for the actual Rett disease."
At birth everything seems normal, he said. It's at about the six or seventh month that something would appear to be wrong.
And at about 2 years old, the child shows profound developmental delays, Alvarez said.
Kaitlyn kept going to physical, occupational and speech therapy after she was diagnosed and had to start taking medicine for seizures.
Samaro said Kaitlyn eventua lly began regressing. She stopped talking and started losing the little weight she had.
The family has the last words she ever spoke on camera, Samaro said. She said "bye-bye."
"It's been a long time since we've heard that little voice talk," Samaro said.
Samaro had been following a study that was geared for Rett syndrome. When the FDA approved the study for humans, he wrote a letter to Harvard University in desperation.
"I kind of felt like my only hope was to get her into that," Samaro said.
The study is through Harvard and Boston Children's Hospital, and its goal is to make Rett more manageable, Samaro said, giving its victims as close to a normal life as possible.
The yearlong study is looking for five checkpoints: improvement in walking; more normal breathing; end of seizures; end of hand wringing; and the resumption of speech.
During each step o f getting Kaitlyn into the study, the Samaros tried not to get their hopes up. But then they got asked in April to go to Boston for a final interview.
A week later they got the call that Kaitlyn has been accepted.
"That was the answer to our prayers," Samaro said. "We were just so excited. I couldn't sleep for a week it felt like. It was like winning the lotto to me."
Thirty girls from around the world are included in the study. Fifteen get placebo injections and 15 get injections of the medicine, insulin-like growth factor-1. Scientists think this medicine will reconnect the communication between brain cells in Rett patients.
Before the study was approved for humans, scientists discovered that the neurons in the brain are not lost when the connection that helps a child's learning ability is severed. The connections could be reconnected in mice during tests when the neurons were awaken.

In August, those who were receiving the placebo injections will begin getting the medicine and those who were getting the medicine will begin getting placebo injections.
Samaro said he thinks Kaitlyn has been getting the injections of medicine. He said he and his wife have seen her walking better, she doesn't wring her hands as much and her breathing isn't as shallow.
Alvarez has not seen Kaitlyn since she started the study, so he has not evaluated her progress.
"We have a lot of hope. A lot of new hope," Samaro said.
Kaitlyn, who was 6 today, has six siblings. Having Kaitlyn has changed the Samaros' priorities. Things that used to be important to them now are not, Samaro said.
Kim Samaro is a teacher at Lake Marion Creek Elementary School, where she teaches fourth and fifth grades, and Samaro has two jobs. He works for Health Integrated, where he refers requests for in-patient care for mental health patients, and he also has a private practice where he treats and evaluates offenders and criminals for courts or lawyers.
"I don't care if we have to live in a tent. If she is fine and we are together as a family, that's so totally important to me," Samaro said.
He has thought about writing a book about Rett syndrome from a parent's perspective to guide other parents.
Kaitlyn goes to Our Children's Academy in Lake Wales, which was recommended by Alvarez. It is a charter school for children with special needs. It has a rehab center where Kaitlyn does physical therapy three times a week, occupational therapy twice a week and speech therapy a couple of times a week.
Right now, the Samaros are going about their days as normall y as possible, they said. They carry on a busy schedule with their children and new baby girl, Isabella.
Kaitlyn, her mother and grandmother have another trip planned to Boston at the end of this month.
"Having her has changed us. And then getting in the study did it again," Samaro said.