Johns Hopkins Appointment Update

You have probably been wondering about the latest on Luke’s surgery. We finally have an update for you! Luke was seen by Dr. Dietz at Johns Hopkins on June 1, 2010. Dr. Dietz will send his ok for surgery to the Houston Shriners Hospital and stressed that the sooner Luke has this procedure the better it will be for him. Dr. Dietz did not want any more time to pass because of Luke’s age. (Note: The surgery will be more difficult the longer we wait because Luke’s bones are naturally calcifying as he ages.)

Dr. Dietz requested that we have Luke genetically tested for Marfan Syndrome because Luke exhibits so many of the characteristics of the disorder. Dr. Dietz does not want to make an inaccurate decision as to whether or not Luke has a check up every year versus every two years. He said Luke is “growing into his aneurysm.” Dr. Dietz said he has seen this before, but because of Luke’s symptoms his aneurysm could change at any time. Dr. Dietz stressed to us that we should not consider Luke to be out of the woods yet.

We will not find out the genetic testing results for several weeks. In the meantime, Luke is still on the waiting list for the surgery on his sternum at the Houston Shriners Hospital.

I appreciate all of you and the support you have shown to our family and to The Luke Pier Foundation,

Vikki

Shriner's Hospital Evaluation

The following is an update on Luke's appointment at the Houston, Texas Shriner's Hospital for Children:

Luke has pectus excavatum (sunken chest). Many people live with this, never needing surgery. In the past year, Luke’s chest has become increasingly worse and now affects his breathing and causes pain. Dr. Dietz, the doctor that monitors his heart at the Johns Hopkins genetic clinic, referred Luke to a thoracic doctor in order to correct the pectus excavatum.

After being examined at the thoracic doctor’s office we were informed that Luke’s pectus excavatum was severe and he needed corrective surgery. We were sent home to have Luke’s CT scan, pulmonary heart function test performed and to raise the needed funds for the surgery.

We immediately began brainstorming the most effective ways to raise the funds needed for this surgery. In the meantime, I also applied to the Shriners Hospital for Children. We were initially denied help at the Shriners because of Luke’s heart aneurysm. I then reapplied, along with a letter from Luke's doctor at Johns Hopkins stating that Luke’s aneurysm was “slow growing” and that Dr. Dietz was referring Luke for this pectus surgery.

Not every Shriners Hospital performs pectus excavatum surgery so we ended up being accepted at the Houston Shriners Hospital. We met with the surgeon on March 18th, and he informed us that Luke's pectus excavatum was "unique", meaning the Nuss procedure (the less evasive surgery/the one I was fighting for him to have) would not be enough for Luke. The Nuss procedure would place a bar through an incision in both sides of Luke's torso and push the sternum out. He would have had to keep the bar in place for 2 to 4 years. Due to the fact that Luke's sternum is twisted almost 45 degrees, the Nuss procedure would not correct all of the problems.

Instead, the procedure Luke will have performed will open him across the front, going under muscle to realign his ribs and straighten the sternum in the process. The "normal" patient with this type of surgery typically has 3 ribs realigned, but again Luke's case is "unique" and requires the realignment of approximately 5 ribs. Luke will also have approximately 2 plates to hold everything in place. His surgeon expects a successful surgery that will improve Luke's quality of life.

Luke will be scheduled for surgery in a few months and we will be sure to keep you updated on his progress.

Thank you!

Quick Update on Luke

Due to the recent passing of Luke's older brother, LCpl Noah Pier - Marjah, Afghanistan, we have not been able to update you on Luke's progress. Please know that we will be back online soon with some exciting fundraisers and events to share with you. As always, thank you so much for your support - especially during this difficult time.

We do have a quick update to share at this time, though. Luke is being evaluated by the Shriner's Hospital on March 18th. We are uncertain what the future holds because Shriners Hospitals for Children initially denied Luke. We are excited that they have reconsidered due to the slow growth of his aneurysm. March 18th is the first step to begin the evaluation process.

We have a few prayer requests:

1. Please pray that the Shriner's Hospital will agree to perform Luke's Nuss procedure.


2. Please pray for the Pier family as we grieve the loss of Noah, our hero.


3. Please pray that 2010 will be a great year for The Luke Pier Foundation as we continue our mission: "to provide funding for life-saving scientific research focusing on, but not limited to, connective tissue disorders. We are also committed to help provide funding and encouragement to individuals for medical treatment they may not otherwise receive due to limited resources or lack of health insurance."

We will update you as soon as we know more! Thank you for your support!

In His Own Words

Luke wanted to talk about his imminent surgery and tell you what it's like to be in his shoes. We sat down and talked with him earlier this week, & this is what he had to say.

“At first I wanted the surgery for my looks, but now I want it because it feels like I am closing up, like I’m breathing through a tube that’s shrinking. I watch everyone run around and I see how they last longer with their breathing. I have to stop before them and catch up with my breathing. I feel frustrated and less than I can be. I have more energy but I can’t go further, I have limits because I have to catch up with my breathing. I don’t like having limits.”

When asked what his sunken chest feels like, Luke responded, “It hurts! I thought at first that it hurt everyone to run. When people finish running they can take a deep breath. I can’t. It’s like I can’t take enough of a deep breath, but instead I cough it out. Every time I try to take a deep breath, after I’m running, I go to breathe air into my lungs but my lungs are tightening. It blows air out really quickly, and I have to sit down to catch up. Now even when I do little things my breathing feels like my chest is closing in and my lungs are being stopped by my chest.

It’s like my lungs are being pushed, like you put a balloon in a jar and when you blow it up to a certain point you can not blow it up any more until you let the air out and blow again. My chest is the jar and my lungs are the balloon. Sometimes I’m not able to take a deep breath. It feels like I am slowly dying, something slowly is happening and I am getting worse and worse. I know I am not going to die, but that’s what it feels like sometimes.

I can do more, but my chest is holding me back. I feel like I’m less of being myself - that I can go further. I try to make my breathing not noticeable. I try to hide it. I don’t want people to think of me as weak.

I wish people could feel like I do so they would understand. I have so much energy inside of me but my breathing is holding me back. I am never able to go as far as I know I can – my breathing stops me, and I feel like I will bust.”

In his own words.

Support Ehlers-Danlos Syndrome Research

Special thanks to Maya Brown-Zimmerman for allowing us to republish her blog post below. Maya has been volunteering with the National Marfan Foundation since she was 14 years old. Currently she serves as a teen program coordinator for the NMF and local group leader. She also works with the Coalition for Heritable Disorders of the Connective Tissue. Maya was first suspected of having Marfan when she was 8 years old, and that diagnosis was confirmed by genetic testing at age 21, after she was also tested for Loeys-Dietz and vascular Ehlers-Danlos. She loves playing with her toddler son and spending time with her husband, Mark.

Support Ehlers-Danlos Syndrome Research

Today I write on behalf of my friends with Ehlers-Danlos syndrome, a disorder related to Marfan syndrome. There are multiple types of EDS (affecting 1.3 million people worldwide) and NONE have real treatments available to them, let alone cures. One of the most serious of these, vascular-EDS, is particularly close to my heart.

At the end of my freshman year of college, during a routine exam, my geneticist said he was SURE I had vascular-EDS. He was reluctant to give me any details about the illness until I threatened to go home and Google it myself.

He was hesitant because vascular-EDS is a death sentence. With vascular-EDS, aneurysms develop anywhere in the body and organs can spontaneously rupture. There is no way to predict when this will happen, nothing to do to prevent it. The average life-expectancy is in the mid 40s. Children have died from just doing a cannonball into the pool.

However, hope is on the horizon, and that’s where YOU come in. The Ehlers-Danlos Syndrome Network has been named a finalist in Chase bank’s Community Giving Challenge. They are up for a $100,000 prize. What would this money do for the foundation? Well, Dr. Hal Dietz has designed a “mouse model” of Marfan syndrome (basically, mice with Marfan). Our mice have dramatically increased doctors’ knowledge of Marfan syndrome, such that we now have an average life expectancy. $100,000 would be enough money for Dr. Dietz to begin work on a vascular-EDS mouse model.

Go here to vote for the EDSN!!! Then, tell all your friends!

Below, please read what Dr. Dietz has to say:

“Vascular Ehlers-Danlos syndrome (or vascular EDS) is a disorder of the body’s connective tissue – the material between the cells that give the tissues form and strength. In vascular EDS the body lacks sufficient type III collagen, a molecule that contributes to the strength of the skin, intestines, uterus, and most importantly, the blood vessels. People with vascular EDS live with the knowledge that they will die from this condition at an age ranging from childhood to young adulthood. They are also told that there are no effective treatments. There are no medications that are known to strengthen the tissues or delay blood vessel rupture. Attempts at surgical repair are often delayed there is confidence that the patient will die within hours if nothing is tried. This is because the tissues are so weak that they often simply fall apart during surgery – akin to trying to sew together wet tissue paper. Of all the conditions that I care for, I hate this one the most. It not only drastically shortens the length of life, but also robs people of any meaningful sense of hope and quality of life – always anticipating that the shoe will drop at any moment. Indeed, all too often children with vascular EDS lose any sense of ambition and purpose despite truly remarkable talents and potential. To their mind, “Why bother.”

Fortunately, there is now strong reason for hope…It is now our goal and intention to make mouse models of vascular EDS in order to learn more about the condition and to test this and other therapies. If someone had suggested 5 years ago that a pill might be able to treat a connective tissue disorder, I would have considered them crazy. Given recent breakthroughs and sufficient resources for further research, I will be shocked if a revolutionary new treatment for vascular EDS is not in general use within 5 years. I have already begun to share this sense of optimism with children with vascular EDS. Our job is to bring this goal to fruition. Their job is to begin dreaming big.”

Harry (Hal) Dietz, MD
Johns Hopkins University School of Medicine
Institute of Genetic Medicine