Sweet Gabrielle LaVerde

An email popped into my inbox from my new friend, Danielle LaVerde, who has a sweet little girl named Gabrielle who has Niemann Pick Type C like Addi and Cassi. Danielle lives in Florida and like me she is doing everything possible to save Gabrielle from this horrible disease. Her letter makes me cry and cry and cry.  Someone else is going through the same nightmare. I am putting together a donations package so we can raise money for Niemann Pick Type C research and I am asking scientists, researchers and parents of NPC children for submissions to help us raise awareness and money. Danielle submitted Gabrielle’s story and I ask that you to take a moment out of your busy day to read it.  If you have not made a donation, please consider making one for our children. Even the smallest amount helps. And please help us get the word out about our kids. We are Mom’s on a Mission – curing Niemann Pick Type C!

 

My Dreams For My Daughter Gabrielle

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 out 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.