Gabrielle's HOPE Bracelets

To show support for the LaVerde family, support for other families of children diagnosed with Niemann-Pick, and to help fund research to find a treatment for Niemann-Pick, Gabrielle's Gift is offering Gabrielle's Hope Bracelets with each $10 donation we receive.

These were designed to represent Gabrielle & the hope we have for finding a treatment and cure for this disease.

If you'd like to receive a braclet, select a size and "Add to Cart".

	SizeAdult Regular (7.5")Adult Petite (7")Child
Or if you'd just like to make a donation to Gabrielle's Gift without receiving a bracelet, you can do so here.

Links

• Ara Parseghian Medical Research Foundation
• Addi & Cassi Hempel
• Dana's Angels Research Trust (DART)
• Fight For Jessica!
• Help Kevin
• Jacob's Reach
• Life for Luke
• PersevereWear
• Race for Adam
• A Touchdown for Ty

What is Niemann-Pick Disesase?

From the NINDS Niemann-Pick Disease Information Page:
Niemann-Pick disease (NP) refers to a group of inherited metabolic disorders known as the leukodystrophies or lipid storage diseases in which harmful quantities of a fatty substance (lipids) accumulate in the spleen, liver, lungs, bone marrow, and the brain. Symptoms may include lack of muscle coordination, brain degeneration, learning problems, loss of muscle tone, increased sensitivity to touch, spasticity, feeding and swallowing difficulties, slurred speech, and an enlarged liver and spleen. There may be clouding of the cornea and a characteristic cherry-red halo develops around the center of the retina. The disease has 4 related types. Type A, the most common type, occurs in infants. It is characterized by jaundice, an enlarged liver, and profound brain damage. Children with this type rarely live beyond 18 months. Type B involves an enlarged liver and spleen, which usually occurs in the pre-teen years. The brain is not affected. In types A and B, insufficient activity of an enzyme called sphingomyelinase causes the build up of toxic amounts of sphingomyelin, a fatty substance present in every cell of the body. Types C and D may appear early in life or develop in the teen or adult years. Affected individuals have only moderate enlargement of the spleen and liver, but brain damage may be extensive and cause an inability to look up and down, difficulty in walking and swallowing, and progressive loss of vision and hearing. Types C and D are characterized by a defect that disrupts the transport of cholesterol between brain cells. Type D usually occurs in people with an ancestral background in Nova Scotia.

Letter from the founder of Gabrielle's Gift

My name is Janet Cason. My dear friend, Danielle’s only child has been diagnosed with Niemann-Pick Disease Type C. This is a genetic metabolic disease in which the body is unable to breakdown lipids. These lipids are then stored within the body’s own organs. In Type C of this disease lipids are stored primarily in the brain. These deposits replace healthy brain cells causing multiple neurologic changes. This disease is diagnosed in early to mid childhood and life expectancy after diagnosis is merely 6-10 years.

Danielle and her husband tried for over 5 years to have a child. I know first -hand how it feels to want to have a child and be told that your chances are slim. Then miracle of all miracles you have the child you have always longed for .I cannot imagine going thru 4 years of testing, endless Doctor visits and mounting medical bills all while watching your beloved child become progressively worse. Imagine never again hearing the words “I love you”, “Mommy”, or “Daddy”. Children with this disease lose their ability to speak, walk, move their eyes up and down, and eventually swallow. As they grow older they become more dependent. They can no longer run, jump, sing or dance. They cannot tell us how or what they feel. They are trapped in a body fighting against itself.

I have been a nurse for more than 15 years and up until this fall I had never heard of Niemann-Pick Disease. When speaking with my co-workers: Nurses and Doctors, none of them knew of this disease. Only 300 cases are known in the US and approximately 500 worldwide, so few cases of such a devastating disease. How can we fight to save these children if no-one knows this disease exists? I am a Mom…nothing more, nothing less. Yes my children drive me crazy screaming, fighting and running all over the house. I now thank God that they can. I am a nurse and I usually have the skills to help “fix” people. I cannot “fix” Gabrielle. I cannot give her a pill and magically return her to the sweet, loving child my dear friends knew for such a short period. I cannot help them save their child…….yet.

Some of Danielle’s friends and I have created a not for profit organization- GABRIELLE’S GIFT. Our goal through this organization is to increase public awareness of this disease, help families of children with this disease financially and raise funds to support research into a treatment and hopefully a cure for this devastating disease. 100% of the profits from funds raised will go towards reaching these goals. By taking the time to read this, you are helping us reach our goal of increasing public awareness of this fatal disease. If you find in your heart that you would like to help, please purchase one of our bracelets. Help us give Gabrielle and children like her a chance …….a future. Help us return to their parents the sweet, loving children they once knew. Thank you for helping me make my dream for Gabrielle, and children like her, come true.

Sincerely,

Janet Cason

President-Gabrielle’s Gift Inc.

Gabrielle's Story

as told by Gabrielle's mom, Danielle LaVerde

All I ever wanted to be was a mom. From an early age, I knew that was what I wanted to be when I grew up. On career days at school, while my friends aspired to be teachers, nurses, lawyers, and even astronauts, I wanted to have children and stay at home to raise them - - four of them to be exact. My goal was to raise, kind, secure, loving children. I wanted to know them and I wanted them to know me. I wanted to talk with them and watch them play baseball and dance. I wanted to laugh with them, read to them, dance with them, and have dinner each night while hearing about their day at school.

Motherhood did not come easy, though. After over five and a half years of trying to conceive, including a positive pregnancy test discovered to be false the day after my husband’s father suddenly died, medication, surgery, and swallowing 40 herbs a day, I finally found myself pregnant. My husband and I were in complete disbelief. We were overjoyed that we would finally have the child that we’d waited so long for. We had already loved this child for years and now she was real. We thought we had survived the most horrible event of our lives.

After a relatively uneventful pregnancy and delivery, we had our precious baby – Gabrielle. We gave her that name because she was our beloved angel, new and fresh from God’s very hands. She was a miracle, prayed into existence. She was a tiny little thing, only 5 pounds, 15 ounces and 19 inches long. The first eighteen months or so of her life were wonderful. She was a happy, sweet, smiling little girl, with big, sparkling eyes and she had the best belly laugh we’d ever heard. She was everything we’d ever dreamed of and more. She developed normally and hit her milestones on time, including her first words. She pointed at everything asking, “Watsat?” “Watsat?” She started walking later than most, but was toddling around by 15 months, well within the standard time frame.

Somewhere around 18 months we began to notice that she was not quite keeping up with other kids her age. They were picking up new words, she was not. They were growing more stable on their feet, she was not. By the time her second birthday rolled around, we knew something was wrong. Her pediatrician, however, thought she was “perfect” and that she would “catch up” by the time she turned three.

By her third birthday, it was even clearer to us that she was having difficulty with her speech and gait. It was obvious that her balance and coordination were not what they should be. Finally receiving a referral from her pediatrician, we took her for a complete evaluation. Her fine and gross motor skills, as well as her speech, sight, and hearing were all tested and it was determined that she was “developmentally delayed”. Mild Cerebral Palsy was even mentioned as a possibility. The recommendation was that she begin classes as well as speech, physical, and occupational therapy at the local elementary school.

Months went by and it was apparent to us that while she greatly enjoyed school, the classes and many therapies were not helping her progress. By her fourth birthday, we were very frustrated with her pediatrician. It was plain that Gabrielle was having a medical problem and that her doctor was not going to help us determine what was wrong. She must have felt we were being obsessive, over-protective, first time parents making something out of nothing. Her four year check up with a new pediatrician brought us new information and new hope for an answer. She told us several things about Gabrielle that her previous doctor had never shared with us. For instance, that she has connective tissue issues - - hyperflexible hip joints and nearly flat feet. The doctor did not have any idea what was wrong, but agreed that it was unmistakable she had a medical problem and recommended that we immediately schedule appointments with a Behavioral Pediatrician, a Geneticist, and a Neurologist to aid with diagnosis.

The Behavioral Pediatrician worked with us for about one year, offering helpful suggestions and testing her for conditions she knew Gabrielle didn’t have simply to rule them out, such as Autism. In the meantime, we also worked with a Geneticist and a Neurologist. For two years, Gabrielle was subjected to countless blood tests. I used to count how many vials of blood were taken from her, but stopped around 50. Holding down my terrified, screaming child along with 4-5 other people so a nurse could draw blood was one of the hardest things I’ve ever had to do. I would beg God to make it stop; crying as hard as she was by the time it was over. She also endured EEG’s, MRI’s and CT scans. All tests returned normal with the exception of the EEG’s which showed that she was having absence seizures while she slept. Four attempts at different seizure medications failed. One in particular had horrible side effects - - by the third day on the medication, she could no longer put a fork to her mouth and by the fourth day, she could not sit up. All medications were stopped as her doctor felt her system was just too sensitive to tolerate any anti-seizure medication.

We had consulted with literally the best doctors in Orlando, yet no one knew what was wrong. We took her to Jacksonville to meet with a Neuro-Muscularist as her Geneticist was convinced she had a mitochondrial disorder. After waiting weeks to see him and spending four hours at his office, we left with another list of tests. With four more months of testing under our belts, we returned to the Neuro-Muscularist with results in hand - - all negative. The doctor’s response was that he was very glad to see she didn’t have any of those conditions … and that he would see us in a year. We were astonished and shocked that he could offer us nothing else. After pressing him for help, he finally offered that if she were his child, he would take her to the Kennedy-Krieger Institute at Johns Hopkins.

Developmentally, Gabrielle was continuing to decline. Walking, coloring, running, playing, skipping, riding a bike, and jumping were impossibilities for her. Emotionally she became increasingly frustrated, shaking her fists and gritting her teeth while growling in protest at her own body. She knew what she wanted and she knew her body would not cooperate with her mind to achieve it. She understood everything that was said to her, responding appropriately if asked to choose between two items or pick something up, and laughing at what she thought was funny. There were times she would sit next to us on the couch and open her mouth to speak; only nothing would come out. She’d try and try, but simply could not talk. It was heartbreaking. My husband and I cried so many tears. The pain and heartache of doing everything you can think of to help your child and come away without an answer or any improvement was more than we could bear.

We felt helpless as we watched our beloved little angel fall further behind and loose the few skills she did have. She used to count to 13. She used to fill in the next letter when singing her a-b-c’s, and the next word when reading familiar books. She had looked at everything with a sparkle in her eyes. She always appeared to be pondering something very important … the wheels in her head were always turning. As my friends talked, as all parents do, about how well their kids were doing, learning new things on a daily basis and relaying funny stories about things their kids said and did, my precious child was slipping further and further away. And nothing we did seemed to make any difference.

We applied to and were accepted by Kennedy-Krieger Institute. By then, Gabrielle had stopped talking entirely and all we had was a 3-inch thick notebook full of test results that told us every illness, ailment, syndrome, disorder, and disease she didn’t have. Not knowing whether to have her seen by the Movement Disorders Department or the Neurology Department, they scheduled her with both. We went to Baltimore in early 2007. By now, she was 5 years old and we were no further ahead than when we’d begun. Once again we left with a list of suggested tests - - and a warning that it was their opinion that she had a progressive, degenerative disease. Devastation does not begin to touch how we felt. It was huge blow that we were not prepared for. We tried to convince ourselves that they were wrong. This could not happen to our precious girl. After all we went through simply to have her, this could not be her fate. It just wouldn’t be fair.

After a few more tests, and a consultation with another specialist in Brandon, Florida, we moved forward with the skin biopsy necessary to determine whether or not she indeed had Niemann-Pick. The six week wait was relatively painless. Two of her doctors (including the ordering Geneticist) assured us that this was just another test they were performing in order to rule out yet another disease. No one seemed to think this test was going to be any different than all the others. But this one was. This was the answer we’d been searching four years to find … but this was not the answer anyone would ever want. Our daughter’s answer was a death sentence.

Heart-shattering, soul-crushing pain was all we knew at that point. We felt completely helpless. I found myself begging God to take her quickly. I couldn’t stand the thought of watching her slowly disappear … watching her suffer … watching as she looked to me for relief and being powerless to give it to her … watching her endure the end of her life before she had any real chance to live. My dreams of happiness for her were gone. Her whole life she would only know frustration, disappointment, grief, pain, and despair.

Hope was nowhere in sight. We were destroyed. But my friends, family, and coworkers offered a sliver of hope when they ran to my side. They cried with me, held my hand, and let me borrow their strength. They promised to stay with me through whatever came our way. Gabrielle’s doctor offered us another sliver of hope when he suggested several treatment options. So we decided to fight with all we have. We had been fighting for her all her life and we were not about to stop.
My dreams for my daughter have changed. Now my dream is that she will be able to tell us her wants … what she needs … what she feels. My dream is that she will be able to walk wherever she wants without help. My dream is that she will be able to ride a bike. My dream is that she will not die.

The four children I wanted will never happen. I feel I don’t get the choice of whether or not to have more children. I could never take the chance of giving this disease to another child. All I have is my sweet Gabrielle, who still has big, sparkling eyes and the best belly laugh I’ve ever heard.