GUILDERLAND — Rachel Rodino is not expected to live through Christmas.

Both she and her father have Huntington’s disease, a genetic neurological disorder that has no cure.

The community is rallying to raise money to help feed the Rodino family and keep them in their home. 

The Rodinos — parents Lori and Rick, and their children Anthony, Gianna, and Rachel — were dealt a double blow nearly three years ago, when Rachel, now 7, and her father, Rick, were diagnosed. Rachel was diagnosed first, after she started to have seizures, and, since the disease is genetic, both parents were tested. Mr. Rodino’s test came back positive, and the family realized the disease was the cause for symptoms he’d been suffering with for over 13 years.

The disease, more aggressive in its juvenile form, has progressed rapidly in Rachel.

Donald Higgins, a Huntington’s disease expert who is chief of neurology at Stratton Veteran’s Affairs Hospital, explained that the disease, a genetic mutation of the fourth chromosome, targets select groups of nerve cells, and causes them to die off. The symptoms, which can include involuntary movement, loss of coordination, slurred speech, anger, irritability, and dementia, typically manifest in middle age, said Dr. Higgins. However, children with an affected father are more likely to develop the juvenile form of the disorder.

Rick Rodino blamed himself for his daughter’s illness in the beginning, said Lori Rodino, which made their relationship difficult.

“We had no idea it was in the family,” she said. “Now Rick mostly just stares at Rachel, and you can see his concern, but, because of his own deteriorating condition, I don’t know how much he comprehends.” Mrs. Rodino said one of the hardest aspects of the situation is knowing that her husband is going down the same path as Rachel, but more slowly.

Testing

Genetic testing is available to check for the enlarged gene that indicates Huntington’s disease, but, Dr. Higgins said, most people would not know to be tested until they began exhibiting symptoms. Labs will not test individuals under the age of 18, unless they are suffering distinct symptoms, even if a parent has already been diagnosed, he said.

“Deciding on gene testing is a very personal decision. Some people want to know what they are dealing with so they can plan for the future, and others think it won’t do them any good to know,” said Dr. Higgins. The gene that is affected by Huntington’s was discovered in 1993, after studies were done on a large group of people in Venezuela suffering from the disease, he said.

According to Dr. Higgins, it is not the demise of the nerve cells that causes people with Huntington’s to die, but rather the degeneration of muscles, leading to the inability to eat and swallow, weight loss, pneumonia, and infections from bedsores. Those are some of the issues 7-year-old Rachel Rodino is facing now.

“Rachel’s personality and her spirit throughout this horrible disease have been extraordinary and perhaps courageous,” said her mother in an e-mail to answer Enterprise questions. “In the beginning she always kept her laughter and smile on a daily basis, but as time rolls on…her discomfort is more pronounced and she can no longer see us…She is trapped in a body that she can no longer control.”

Mrs Rodino said before her  diagnosis, Rachel was like any other child, playing outside, swinging on the swing, playing in the sandbox, and chasing butterflies.

Now, said Mrs. Rodino, Rachel does not walk, talk, eat, or see, and is battling weak lungs.

“I carry her around the house a couple of times a day to show her the outside, or her favorite figurines that she always used to get into,” said Mrs. Rodino. “Even though she can no longer see, I describe everything to her…the shows she used to watch, the snow, the Christmas tree.”

Caring for Rachel is a 24-hour-a-day, seven-day-a-week job, said Mrs. Rodino, but she gladly takes it on.

Rachel sleeps in a hospital bed in the living room, where her mother sleeps on the couch nearby. Mr. Rodino is able to stay in the bedroom, his wife said, but that is getting harder for him as he struggles with balance and anger problems.

Family Grief

It is not just the sick family members that Lori needs to worry about, though. She has two teenagers, Anthony and Gianna, to take care of as well.

“I have two incredible teenagers that have seen two people they love go through a vast amount of physical and emotional changes,” she said. “It is heartbreaking to see them so concerned on a daily basis, never knowing when they get off the bus whether Rachel’s going to be here, or if Rick is having a good day or not.”

Rachel was the center of her siblings’ lives, and Mrs. Rodino said the teenagers were angry and scared, knowing that Rachel would not be there in the future, and that they would have to deal with losing their father, too.

“We recently found old videos of Rachel before her onset of Huntington’s, and looking at those now we laugh at her cuteness, her spunky personality, and just seeing her in a normal state,” Mrs. Rodino said.

She called Anthony and Gianna her heroes, and said they gave her strength. “I’m very proud of them and how they have handled everything so far,” she said.

Community rallies

Mrs. Rodino quit her job to take care of her husband and younger daughter, and Mr. Rodino has not been able to work because of the disease, so the family is struggling financially. Friends of the family have organized fund-raisers over the past months, but the Guilderland Chamber of Commerce recently became involved, sending out releases about the Rodino family to rally community support.

Erika Gauthier, the program and membership manager, said the chamber became aware of the Rodino family through a Guilderland School District nurse. A fund-raising campaign was organized, and Gauthier said the phone has been “ringing off the hook.”

“We have gotten a huge response. It’s overwhelming,” said Gauthier. In addition to cash donations made directly through the chamber, the family has gotten support from Christ the King Church, various fire departments, and other community organizations. The Fredendall Funeral Home, in Altamont, has offered to cover the cost of Rachel’s funeral, Senator Neil Breslin is working to prevent foreclosure of the Rodinos’ home, and the McDonald’s on Western Avenue will hold a fund-raiser on Dec. 18, from 4 to 7 p.m.

The Pioneer Savings Bank on Western Avenue has set up the Rodino Family Fund, and checks or Price Chopper cards can be donated to the chamber at 2050 Western Ave.

“The generosity of the community is overwhelming for us. I have always felt that we live in a warm, kind, and loving place, but this is so much more support than we ever imagined,” said Mrs. Rodino. She said what the family continues to need most are monetary donations.

Mrs. Rodino wants to make sure the community understands that, although the family is grateful for the offers of meals and visits, she has to be careful about inviting people into the home, because her husband’s disease has caused paranoia and aggressive behavior.

She said her husband needs to feel he is in control. “That’s the most difficult part, because he doesn’t understand I want to help,” said Mrs. Rodino. “If Rachel ever knew the outreach of support and caring that this community has shown, it would make her feel like Cinderella, so special in so many ways.”

The most important benefit of all the community support is being able to stay in their home, Mrs. Rodino said, especially for Anthony and Gianna.

“That was the biggest relief for them; they did not want to move somewhere else. This is our first home, and they want this to always be our home, even after Rachel and Rick succumb to this disease,” said Mrs. Rodino. “That’s what I’m trying to hold onto for them.”

Raising awareness

It is also important to Mrs. Rodino, and her family, to raise awareness of Huntington’s disease. She asks the community to support funding that goes toward research, because there are no medications to cure the disease, or even slow its progression.

Dr. Donald Higgins said there are medications that can control the symptoms, but it is hard to find a cure for the disease because the gene is present within every cell of the body. There is concern that, if the gene were manipulated, it could have other, unintended, negative effects, he said. There is an international Huntington’s Study Group, he said, but often there are not enough people to participate in trials.

Mrs. Rodino said Rachel’s seizures, muscle spasms, and pain are controlled through medication, and her husband’s balance problems and anger are controlled with medication and anti-depressants.

Dr. Higgins said he would encourage people who are suffering with Huntington’s, or who need more information, to get connected with a Huntington’s program, go to a discussion or education group, and empower themselves with information.

“I want to thank so many friends and neighbors that have touched our hearts,” Mrs. Rodino concluded. “We miss our sassy girl who snorts when she laughs, but we also know, in our hearts, that she left us a long time ago, and is ready for that next journey, to be set free — to fly like a butterfly and soar like an eagle, because that is who Rachel really is.”