Experimental Cure for Progeria Teaches Us About Aging in General

Describing what life is like for Adalia is not an easy task. Progeria is a complex disease that involves more scientific and medical jargon than I have the ability to communicate to you – and writing about its potential cure will be just as difficult.

A few months ago I was on the Progeria Research Foundation’s website and saw a video of a TEDMED presentation by Doctor Francis Collins. He spoke about his journey to find cures for the over 4,000 diseases known to man, and, in particular, about the potential cure for Progeria. He also introduced a young man who has Progeria named Sam Berns. Sam spoke candidly about his battle with the aging disease; being involved in research and studies; how the disease has affected his life; and how he has, in many ways, already beaten it. If you have the time, I highly suggest that you watch it.

Dr. Collins, a geneticist and Director of the National Institute of Health, led an important study that could be the breakthrough we pray for – finding a potential cure.

As mentioned in one of my previous blogs, Progeria is caused by a particular cell that is a little different than it should be, mutated is how it was explained to me. What Collins discovered in his study is that, when you administer a cancer drug called Tipifarnib, these different cells become normal. The microscopic structure, that separates those with Progeria and those without Progeria, is no longer distinguishable.

They are currently performing the study on mice, which, when administered the drug, have been cured of cardiovascular disease. Though this study has not been proven to work on humans, it has shown promise.

Also interesting is the fact that this drug might be used to cure cardiovascular disease in adults as well. In fact, there is widespread belief that a cure for Progeria could mean a potential cure for aging. So, not only could doctors prevent those with Progeria from dying, but from dying for centuries.

What’s most important is the comfort knowing that doctors, scientists, and researchers are working around the clock to find cures for all of these diseases that affect so many people, young and old. It’s not just Adalia. Everyone is, in some way, shape, or form affected by these diseases.

I also wanted to say that the Progeria Research Foundation has played a key role in the progress towards understanding Progeria, and finding its cure. It is a terrific foundation that has accomplished so much in its 14 years of existence.

It’s exciting and promising to know that, through research and studies, they have made significant ground towards finding a cure for Progeria. So much so, that I feel confident they are knocking on the door of ridding the world of this terribly painful disease.

The Day My Heart Shattered to Pieces

First of all, I can’t stress enough that my intentions for going online was simply to goof around with Adalia, and do something she wanted to do. You see, it’s hard for us to go outside like a normal family. Not only does it take a tank of sunscreen to properly protect Adalia, but  our neighborhood isn’t exactly Pleasantville, it you get what I’m saying.

So playing around on the internet was something that we could do safely, or so I thought. I never imagined that we would get so much attention. That’s why I think it’s so important for me to let everyone know (because you seem to like hearing from us) about Adalia’s reality, and what it is like to watch your child suffer with this very difficult disease.  

How I found out that Adalia had Progeria

When Adalia was born we didn’t see anything different in her other than some strange skin thickness on her torso … my mother told me she was OK, that it would go away … my mom tells me that about everything!

Two months went by, and we started noticing that she wasn’t gaining any weight. The doctors became worried, and so was I. We had no idea what was the problem, and the doctors told me to go to a geneticist. Being a first-time mother, I didn’t know what that was (and telling you this story brings back all of those same feelings). We went to the doctor where they ran blood tests.

She was about 3-4 months old now. The doctor took a look at her, and gave me some names of things that could be wrong with her – one of them being Progeria. At that moment, my heart broke. I didn’t know what any of it meant, all I knew was that something was different about Adalia.

I rushed to the library because at the time I was only 18, and I didn’t have a car or a cell phone. When I got to the library I researched Progeria, and two other disorders. The symptoms I read about for Progeria were: diminished body fat and muscle; hardening and tightening of the skin on the trunk and extremities; as well as hair loss.

Everything that I read was true about my baby, and that is a feeling that will make you feel like you could throw-up your heart. I was so hurt, so scared, and I didn’t know why this was happening.

All I knew at the time was that my baby was different, but she couldn’t be like these kids. I was terrified, and I didn’t know what to do. When the doctor finally called me, and announced that she had the results, I went to the office alone, and received the news that would change my life. My baby had Progeria.

I did a lot of crying, and a lot of questioning. I was in denial for a long time. Then, as time went on, I noticed that the doctors were right. She started changing, losing her hair, losing weight. Her joints started to stiffen, and the worst part, she was aging. I kept Adalia away from people for as long as I could because when I would go out, people would just stare. I even had people from high school talking about how ugly my baby was.

My heart was shattered into so many pieces, and I just wanted to be alone with my daughter. I secluded myself from everyone … even at times from my own family. Even though I lived  at  home, I never really associated with anyone. I felt much more comfortable being in my room, playing and listening to music with my baby girl. 

Learning About Progeria - PART I

My daughter, Adalia, is truly one in a million. Her wonderful spirit is as rare as the terrible disease she’s been diagnosed with. Many of you may already know that Adalia has Progeria, a rare genetic disease that rapidly increases the aging process in young children. Though she acts every bit like a happy 5-year-old, Progeria is something Adalia battles every day.

Before Adalia was diagnosed, I had no idea what Progeria was. So I did what every concerned and scared parent would do. I went on a fact-finding spree. In addition to the information I received from the doctors, I read articles, blogs, books, science and medical journals … anything that had the word “Progeria” in it. What I found addressed some of my fears, and even enlightened me to some things I would have never guessed. Most importantly, it helped me understand what my child was going through, and helped me cope with this sudden and unexpected change. Now, I must warn you, some of the language can get very technical, but I’ll try to make it as easy to understand as possible. I hope this gives you a better understanding of Progeria.

I’m sure you’ve heard that Progeria is rare, but just how rare is it? Progeria affects 1 in every 4-8 million children. Currently, there are 92 children in 33 different countries that have been diagnosed with Progeria. This disease is not hereditary. So, despite the slim odds, Progeria could still happen to any child.

Named after the first two doctors who described the disease in the late 19^thcentury, Progeria’s official name is Hutchinson–Gilford Progeria Syndrome. The two doctors described exactly what Adalia is going through: failure to develop, loss of hair, wrinkled skin and weakening eyesight. Children who have Progeria also have distinctive features, typically a small face and jaw with a pinched nose. Though the cranium of a child with Progeria may look big, it’s actually normal-sized. The small face gives off the illusion that the cranium is larger than normal.

One of my burning questions was “how do you get Progeria?” The answer lies in the small, microscopic processes that take place within our bodies. Everyone has a gene called LMNA. This LMNA gene produces a protein that holds the center (nucleus) of a cell together. When this very small, yet very important process doesn’t go according to plan, a mutation within the gene occurs. This is what causes Progeria. This is the difference between Adalia and any other normal five-year-old.

Though the effects may show themselves on the outside, on the inside there is a much different story. Not only does the disease not affect a child’s intelligence, but the intelligence among those with Progeria tends to be higher than normal. There is also no effect on the central nervous system. Their voice still sounds like a child’s, and their dispositions are like that of any other normal kid their age.

Progeria does not define Adalia, but if Adalia can help redefine Progeria by opening people’s eyes to what this disease really is, then I feel like we’ve done a good thing.

I hope to write more blogs similar to this. There is a world of information out there, and doctors and researchers are constantly making new and exciting strides in understanding, and ultimately curing, this disease. 

http://goo.gl/3j9yE

Please Help Us Take the First Steps Towards Putting an End to Cyberbullying

The wonderful outpouring of support and friendship for Adalia over the past six months has been overwhelming, and makes our sweet Adalia so happy. We all know that she truly is a blessed little girl. Support comes from people all over the world who heard her story, saw her beauty, and witnessed her courage.

Of course, in our world of balance, all love must come with hate. Many dear friends have seen my daughter take abuse from angry and scared individuals across the internet. WE WANT YOU TO KNOW THAT WE SHIELD ADALIA FROM THESE MESSAGES, AND ONLY SHARE THE LOVE WITH HER.

However, for the people closest to her, the senseless negativity is hard to ignore.

As hard as I try, I don’t think I will ever understand why people do, say and create such hateful messages. It simply doesn’t make sense. These people are attacking the person I love with all my heart because she is different. There must be a way we can help put an end to Cyberbullying, and I think we’ve found a place to start.

Mary Anne Hornbeck started a petition on CHANGE.ORG with the goal of stopping hate speech on Facebook.

It is part of Facebook’s policies and standards that hateful messages directed toward a person with a disease or disability will not be tolerated. However, despite reports from thousands of Facebook members, the negative pages, posts, and comments remain. Adalia deserves better.  We need Facebook to uphold its own policies at the very least, if we want to put a stop to online hate.

This problem is not Adalia’s alone. I have heard, and since confirmed, that over ONE THIRD of all young people are victims of Cyberbullying. This is a growing epidemic, and with your assistance we can help find the cure.

Please  click here to visit the Facebook: Uphold Policies & Standards Concerning Hate Speech petition on CHANGE.ORG.I know our network can get the requested ONE MILLION signatures.

Together we can put an end to Cyberbullying on Facebook.

http://goo.gl/FqjM6

We’re Workin’ at the Car Wash … YEAH!

Adalia is my daughter. She has been gifted with a kind heart, wonderful personality, and a beautiful smile.  Adalia also has a very rare aging disease known as Progeria.

In an effort to educate and raise awareness for this disease, on August 4 we will hold a car wash fundraising event from 8 a.m. till noon at Conquer Fitness in Round Rock Texas.

All proceeds will go directly to the Progeria Research Foundation, an organization that helps inform families, doctors, researchers, and the general public about Progeria, as well as funding medical research to find a cure.

Our friends and family will also be there to distribute information packets to help educate about this disease that we face.The event will also include a bake sale and hot dog/sausage wrap sale. On hand will be a bouncy castle, and kids will have an opportunity to be photographed with their favorite superhero. We hope it will be fun for the whole family.

Adalia Rose has inspired so many people with her courage and kindness. As many can attest, no one is the same after meeting this wonderful little girl. We want a chance to get to know the community where we live, and give our neighbors the opportunity to meet our family.

Progeria is a rare genetic condition characterized by accelerated aging in children. Though only 1 in 4 million children are affected by Progeria, I found out that it can happen to anyone’s child.

This seems like a disease that is a million miles from home, but there is a child with Progeria in your town, she is your neighbor.  Please help us find a cure.

The event will take place at Conquer Fitness, 1920 Sam Bass Road in Round Rock.

We all look forward to seeing you there!

 http://goo.gl/5Vnys

I want to tell you a story …

You may have heard a similar one before, but you haven’t heard mine.

If I ever find a quiet minute, I try to chat with my friends and family over Facebook. Most often I post about my day at home with my two beautiful children. I don’t know for sure whether my friends like my many “kid” updates, but no one has told me to stop, so I don’t plan to.

Actually, my friends often ask about my daughter. You see, she has this wonderful ability to get inside your heart when you meet her. She becomes lifelong friends with nearly everyone she meets.

Responding about her to a few of my friends was the main reason I logged on the day that my sweet little Adalia Rose discovered the internet.

“What are you doing Mommy?” She asked me.

“Telling everyone how wonderful you are,” I said.

“I want to talk to our friends too,” she squealed at me.

If you’re a parent in the 21^stcentury you have, or will have, to make decisions for your child that no other generation ever had to consider. Can she have a cell phone? Can she have an e-mail address? Can she have a Facebook page?

It took me six months to answer that last question, and what felt like six minutes for that answer to grow out of my control.

Adalia is a typical little girl in nearly every way. She loves singing and dancing. She loves playing dress-up and smearing on lipstick until it covers half her face. She gets mad if you relocate even one of her stuffed animals, and she loves her baby brother.

Adalia lives a life focused on health and energy. Just like all the other little girls, she has two eyes, one nose and a talkative little mouth. When she catches her reflection in the window, she loves to sit and stare at the face looking back at her.

So what part of my story is so vastly different from the ones you’ve heard before?

My daughter has a disease that is reported in only ONE of every 4 million new babies. This disease makes us see something different in her sweet baby girl face – the one with the same eyes, and same nose, and same mouth –  in that face, we see her heart.

Progeria Syndrome is a rare genetic condition that accelerates aging in children, making every minute of her day important and special.

We started a Facebook page dedicated to updating the people in our life about those special moments because they asked us to. We never expected so many people would want to join our world, but we forgot for a minute that Adalia has that power.

We heard from people who wanted to shower Adalia with love and support. We heard from people who gained strength from Adalia’s light. We also heard from people with fear and pain deep inside, who need to fight the things they do not understand.

There is a special energy around Adalia Rose. We knew that for a long time, and these last several months showed us that you feel it too.  I just can’t let that energy around my child ever be negative, which is why I found it so important to tell you my story.

In our home we focus on health, life and seeing beauty in things that are unique. My child asked to share her day with her friends, and I see no harm in that. She does not read the posts left online, after all she is only a little girl. She loves to sit and listen when we read the positive messages out loud. She thinks of fun things for us to post and participates in making the videos and pictures we share.

Please know that we only share her light as a means to promote self-esteem, compassion, beauty and laughter. If you still don’t understand, this only tells us you need Adalia’s strength more than anyone.

http://goo.gl/7iMZJ

Adalia, Mom and baby brother!

Adalia and her Mom, rockin’ out with the trusty pink wig. Every girl should have one!