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Living with Rett, longing for a cure: Scarborough parents hope experimental hormone will help their daughter

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Living with Rett, longing for a cure: Scarborough parents hope experimental hormone will help their daughter

SCARBOROUGH — Mornings are a slow process for Annie Nee. 

The 10-year-old Wentworth Intermediate School student is helped out of bed and through the typical morning routine by her mother and an in-home nurse.

She is placed in a wheelchair, where she remains for much of the day. Breakfast can take more than an hour and, if it doesn't go well, she'll have to take extra nutrition through a feeding tube.

Annie has Rett syndrome, a physically disabling neurological disorder caused by a sporadic mutation in a gene known as MECP2. Part of the autism spectrum, Rett syndrome primarily affects girls, and results in a regression of gross and fine motor control.

For Annie, that means the inability to meaningfully control her body. Rett is also marked by unpredictable and uncontrolled breathing patterns that for Annie sometimes result in painful stomach aches from swallowed air and dangerously low blood-oxygen levels. In worst-case scenarios, complications from the disorder can lead to death.

Annie loves music, school and other children, but she cannot speak, or even cry. She requires near-constant "top-to-bottom" care, according to her mother.

But exciting developments in the search for a cure give Annie's parents, Dickie and Katie Nee, a measured hope that one day Annie may lead a more normal life.

In 2007, a breakthrough genetic treatment in lab mice showed that major symptoms of Rett syndrome could be reversible.  In August, Annie joined 12 other little girls at Children's Hospital Boston to begin testing a hormone treatment shown to fight Rett syndrome in lab mice.

'We didn't want to believe it'

Annie was born a normal, healthy girl, Katie Nee said.

"She smiled very early," Nee said last week. "She was a very happy, good baby. A typical, normal baby."

But when Annie was about a year old, her parents began to notice something wasn't right.

Annie wasn't meeting developmental milestones the same way their six other children had. Because she was the youngest child, family members often made excuses for her lack of progress.

"They said it was because she was picked up all the time, because everyone spoke for her," Nee said. "She was doted on."

A team from the state's Child Development Services came to assess Annie. They suspected she simply had developmental delays and recommended physical therapy. Annie started to walk at around 18 months, but in early 2003, the family's pediatrician told Katie and Dickie she suspected Annie had Rett syndrome.

"Dickie and I looked it up on the computer, but we didn't think that was it. We didn't want to believe it," Nee said.

Over time, the doctor's hunch was proved right. The development Annie had achieved with her therapists reversed, eventually leaving her speechless and unable to control her body.

Daily life

The Nees try to give Annie a normal life.

Most days, the bus picks her up at home and brings her to Wentworth, where she spends much of her day in special education and therapy. When possible, Annie is "mainstreamed," and joins the other students for art or music classes.

"She really thrives seeing other kids," Nee said. "The mainstreaming is so important for her."

Annie does have some motor control, but her limitations require immense patience. At school, Annie utilizes a "switch," a large button she can press to indicate "yes" or "no" to options presented to her.

"It takes a while, but she can eventually hit what she wants," Dickie Nee said. "You have to wait for her. In the morning, you can ask if she wants an egg or toast, and if you wait long enough, she'll focus on the one she wants."

But no matter what efforts are made to give Annie a normal life, there's always the fear of something going wrong.

Annie suffers from seizures, another symptom common with Rett syndrome. Between her condition and all her medical appointments, someone always has to be ready to take care of Annie, wherever she is.

Not long after Annie was diagnosed, Katie Nee quit her job at Unum to take full-time care of Annie and the Nees' second-youngest child, 15-year-old Coleman, who suffered brain damage after surgical complications when he was younger. Dickie kept his job as manager of Cavalry Cemetery in South Portland.

Life was made even harder when the Nees' oldest son, Seamus, died at age 19 in a car accident in April 2003, within weeks of Annie's diagnosis.

The combination of the two youngest children's medical conditions and the untimely death of Seamus was trying on his family, Dickie Nee said, but there wasn't much time to grieve or feel sorry for themselves.

"Sometimes we take a step back and look at it and just think, 'this is crazy,'" he said. "But we don't have time to think about it. We just have to deal with it."

A measured hope

In August, Annie was selected for the first round of testing a growth hormone that may help her live a more normal life.

In 2007, a scholarly paper was published describing how a British doctor using genetic engineering  had successfully reversed many of the physical symptoms of Rett syndrome in lab mice. Simply put, Dr. Adrian Bird had created mice with an "on/off" switch for the MECP2 gene. When the gene was off, the mice showed Rett-like symptoms. When it was turned on, the symptoms went away.

"Mice normally live for a couple of years, and it was no different for our reversed mice," Dr. Adrian Bird told the Rett Syndrome Research Trust in a 2008 interview. "In other words, reversal of both male and female symptoms was very effective indeed."

In another study in 2009, MIT researchers showed that a growth hormone known as IGF-1, which is commonly used to treat underdeveloped children, could make up for a deficit a lack of MECP2 gene expression. According to the Feb. 2009 edition of MIT Tech Talk, the treatment led to a restoration in underdeveloped brain cells and reversed some of the Rett-like symptoms.

Doctors and researchers at Boston Children's Hospital hope the treatment will work as well for children with Rett syndrome as it did on the mice.

The Nees spent much of August in Boston while Annie underwent toxicity testing, which gradually increased the hormone dosage over three weeks to ensure there were no dangerous side effects.

After watching videos of the Rett mice before and after gene treatment, the Nees are cautiously optimistic the hormone will help their daughter.

"In the video, the mice are wringing their hands, they have weak muscles," Dickie Nee said. "After they give them the growth hormone, the hand wringing went away, the muscle tone came back. It's just wild."

The Nees said that while they're optimistic the hormone will help some, more needs to be done to ensure scientists and doctors have the resources they need to find a cure.

"We just want to help get the word out," Dickie Nee said. "They almost have an answer to curing this. The only thing to stop them is money."

In January, Annie will start a full treatment for five months. Annie parents dream of an all-out cure, but if there's one thing they wish, aside from good health, it's to be able to have a conversation with their daughter.

"Communication is more important than anything," Katie Nee said. "If I could just know how she feels, what she wants to do."

Mario Moretto can be reached at 781-3661 ext. 106 or mmoretto@theforecaster.net. Follow him on Twitter: @riocarmine.

This article was corrected on at 9:38 a.m. Friday, Oct. 14.