Doctors, Families Rally for Cure for Deadly Birth Defect

Parent's Perspective News Report of Saint Louis Children's Hospital Press Conference

Tuesday, March 27, 2012

Face of CDH - Noah's Miracle

In His Parents Words: 

The storm began on January 4, 2010, my husband and I was expecting our first child Noah.    With him, being our first born, we had high anticipation about the delivery process and becoming first time parents.  During the delivery we had our worst fear confirmed.  Noah’s heart rate had dropped with every contraction, and a rapid assisted delivery was now required.  After a few difficult moments he was delivered but was whisked away to be resuscitated.  The nurses and doctors confirmed that he had a birth defect known as Left-sided Congenital Diaphragmatic Hernia (LCDH).  Noah was transferred to Children’s Mercy Hospital in Kansas City, MO.

Fortunately, my husband and I did not know the statistical outcomes for CDH.  Therefore, our focus was on a day to day evaluation of our son’s status.  The days were very long and seemed to be eternal.  Our focus was moment by moment, with expectations of a breath, hiccup, wiggle, or eyes opening.  I knew there would be no recognition of us, but any response to our voices or touch gave us hope.  Since he was on a ventilator for breathing assistance we were unable to hold, touch, or stimulate him for fear of increasing his breathing difficulties.  As each agonizing moment went by, his team of specialized physicians relayed more information on CDH and decisions we would have to deal with in the upcoming hours.  On day 2, Noah underwent the CDH repair that involved a thorascopic procedure that wasn’t very invasive.  Happily, our son was among the few that were able to correct the defect by a primary repair.  On the morning of day 3 we received a call from the NICU nurse, she told us that Noah was going to be extubated that morning.  As we were driving to the hospital, we noticed the biggest rainbow in the sky.  At that moment we knew that Noah had survived his storm.  We were very blessed that his hospital stay was only one week. 

Our son’s future routine medical examination will include a chest x-ray every six months to make sure there is no reoccurrence.  During his childhood, he will visit a team of specialized physicians that will manage his childhood development.  This team of medical professionals include:  neonatologist, dieticians, psychologist, audiologist, and his surgeon.

CDH is an unpublicized nearly unrecognized devastating birth defect that affects many families every day.  Most people do not know anything about CDH, unless they have a loved one that has been born with this unfortunate defect.  Advances in surgery and therapeutics have not shown great promise.  Therapeutics sustains life minimally.  The future is unknown for diagnostics and treatments.   Worldwide one baby is born with CDH every ten minutes.  The sheer number of infants affected by this disorder should challenge the scientific community to research other avenues of diagnosis and treatment.  Please help our family raise awareness of this monstrous birth defect in honor of the angels and survivors of CDH.


David, Tera, and Noah

We are positive Noah will never stop going forward!

Monday, March 26, 2012

2012 Virtual Walk/Run for CDH Awareness - March 31st

What to do?  Here is one idea from one of the CDH Moms - here is her blog - click HERE

Grab some friends, head out to a local park, neighborhood or anywhere you love to walk and run and run and walk!  Take pictures of you in your turquoise and possibly wearing these or the other "bibs" offered:

If these do not print well for you - please feel free to contact us ( and we can send you the originals!  Take pictures and share too! 

Saturday, March 24, 2012

More than One Face of CDH

Sofia - an amazingly beautiful, vibrant child who has defied odds with the support of her amazing family and the doctors and nurses who have been part of her amazing life! 

For the last 5 years to not only increase awareness of Congenital Diaphragmatic Hernia but also the importance of donating blood, this blood drive has supported the community! 

One pint of donated blood can save up to three lives and more if they utilize the blood into blood products which aid NICU babies, burn patients and other surgical patients in need.  The only resource for these products is Human Blood, the synthetic scientific stuff just doesn't work as well in our bodies!  Please click here to sign up and for further information of this blood drive which several CDH Families including Sofia's family are hosting and have hosted in Kansas City - Click HERE

Noah - whose family is also joining in to make this blood drive a success!

We know of one CDH infant who went through a total of 5 gallons of blood and blood product.  Yes, GALLONS of blood - for an infant.  Many do not realize that the most fragile of infants utilize a tremendous amount of blood in the hospitals, it saves lives and also gives many families the opportunity to know and love their children for the short duration of their lives on this earth.  It is a gift you can give and it cost nothing but about an hour of your time!  You will feel good doing it and perhaps get some juice and cookies after!  Thank you!

Wednesday, March 21, 2012

Face of CDH - Whitney Kaholumehekainani

Our journey started at week 21 gestation when my husband and I, along with our moms, went to the Dr. for the anatomy ultrasound. It’s a girl! We were beyond happy. Our moms left to tell everyone and then the Dr. talked to me and my husband. He said they see a mass in our baby’s chest or bright spot on her left lung; calling it Congenital Cystic Adnomatoid Malformation (CCAM). We were referred to a specialist, a perinatologist who confirmed it and told us all about it.
A month later, at week 25, we went back for another ultrasound and saw a different Dr. They saw fluid around the CCAM and referred us for an echocardiogram because her heart was pushed over to the left. The heart ultrasound saw that baby’s heart was developing normal and that the CCAM was pushing it. They say the CCAM is not fatal and that it would probably shrink in size and be just fine by birth.
At week 28 we had another ultrasound with different Perinatologist Dr. While doing the ultrasound, the technician saw something else in the picture so she asked for another one’s second opinion. They were being mysterious and wouldn’t say anything to us. I thought to myself that“as long as it wasn’t life-threatening it’d be okay.” They told us that we had to wait for the Dr. to come in and tell us. I remember this like it was yesterday. When the Dr. finally came in he studied the pictures and did his own ultrasound also not saying anything to us. In his office he told us it was right-sided Congenital Diaphragmatic Hernia, which is life-threatening. Not a CCAM at all. This Dr. explained it all very well to us while I cried the whole time, and I cried the rest of the day. :(
After seeing 5 different Dr.’s, only the 5thone finally gave us the true diagnosis. It’s a very rare birth defect and I was referred to the only hospital in the state that could care for us. My husband and I met with a ton of different doctors that would help care for our baby when she arrived. Of course I did tons of research on the diagnosis. The doctor’s and nurses had little hope; all the research had very little hope for a right-sided CDH baby, I almost felt hopeless. The neonatologist started talking about comfort care instead of all the scary, painful, and risky procedures to save my baby’s life. I was confused and scared. But this one time, when I went to a book store and picked up a book about infant loss, I suddenly put it back, crying, and decided that my baby would live and that I would do everything possible to help her. I had an MRI done that told us more about Whitney’s hernia. Basically, her liver and intestine were developing in the chest, so both lungs were small, one more so than the other and her heart was entirely to the left. I also got two steroid shots about 4 weeks before the birth to try to help her lungs grow. I had an Amniocentesis done to make sure there were no chromosomal abnormalities. I drove 30mins, both ways, twice a week for ultrasounds and Non-Stress Tests. I also bought a few “new baby” items to help me prepare for having a baby come home, although; they were basically telling us to buy a casket instead of a crib. I also prayed a lot. I mostly prayed for comfort and understanding and the courage to accept God’s will. This sort of thing is, understandably, extremely hard on first time parents.
When we picked Whitney’s middle name, we knew we wanted it to be Hawaiian. Thomas is part Hawaiian, so we were thinking family names. But they didn’t seem to fit. His dad told we could just make one up. So one day my husband asked me to tell him a meaning and he would research it. I said that Whitney is “Strong and Beautiful like the ocean.” Translated to Kaholumehehkainani.
I was induced at 40 weeks and after a few short hours of labor; Whitney was born on Wednesday, July 21, 2011 at 3:09PM, weighing 6lbs 10oz. I’m grateful I was able to have her vaginally and that my husband was able to cut the cord. And then they intubated her immediately. All I could do was look at the backs of several Doctors surrounding my newborn girl. I do remember one nurse watching me while I was sobbing. I wondered what she was thinking. I held Whitney’s hand for a few precious seconds before they took her away to the NICU. I continued to cry, so much that I couldn’t even talk. I wanted to tell Whitney to be strong and that I love her and that I need her. I wanted to ask her if she was okay. I was so scared for her.

I wasn’t able to see her for quite a few hours afterwards because I had gotten an epidural. My whole family was with me but I didn’t want them to see her before me. Eventually I did see her and so did our families. Even though my husband and I were exhausted, we took turns taking every one back one at a time because we didn’t know if Whit would make it through the night. From then on, it has been a roller coaster for everyone, especially Whitney. The next morning, I signed papers for Whitney to be put on the ECMO machine. My husband wasn’t there but I had already decided to do everything possible to save her life. That afternoon, before she was even one day old, they hooked her up to that heart/lung bypass machine. I was discharged but they let us stay in a special room for parents of critically ill babies. Whitney was able to be weaned off ECMO at six days old. The neonatologist told us“these babies have maybe a 20% chance to survive.” I whispered... So there’s a chance. Somehow, I just knew she would survive. On day seven they performed the CDH repair surgery. They repaired her right side with a large gortex patch. They said that they were confident that Whitney would heal very well. I always asked Whitney to promise me that she’d be “okay.” I know it was asking a lot of her and I feel bad about it, but anytime there was a big hurdle, I asked her. I don’t want to list all the details of every little medical thing but like I said previously, it’s a roller coaster, and not a fun one at that! I was always asking Whitney if she was okay. I called the NICU all the time and just asked if she was okay. I just needed her to be okay, and they always told me that she was “critical but stable.” I know that she was never alone and it helped to picture Heavenly Father holding her in his arms. 
I spent as much time as I could by her side. Holding her hands, singing to her, reading to her, praying with her, and crying with her. Thinking back on it I wish I would have spent even more time with her. But all the nurses there said that my husband and I and our family were there more often than any other parents. So after 2 weeks, they kicked us out of the room at the hospital. We lived 30 minutes away and that was way too far for us, but we didn’t qualify for the Ronald McDonald house. Luckily we had a good friend who lived nearby the Hospital. We stayed with her for the next few weeks until we were satisfied that Whitney would survive.
I held my daughter for the first time at 15 days old. The first time I heard her voice was when Whitney was 3 weeks and 2 days old when she was ex-tubated. The first time that I was certain she was going to be okay was when she could breathe on her own; she was off of oxygen, if only for a couple days. The first time I was able to feed her. Her first bath. All of these things were miracles. It took about 1 ½ months to move from the NICU to the Annex, where babies are just working on feedings and getting ready to go home! So, to make a really long story short, Whitney came home when she was about 2 months old, a total of 56 days in the hospital. She came home dependent on oxygen and a monitor. We made a huge banner and hung it on the house. A lot of family members were there to same this special moment with us. 

And a new adventure began! She struggled with eating for a really long time. At 5 months old she needed a feeding tube. That also has been a roller coaster ride with many ups and downs. Whitney was gagging, vomiting, and had oral aversions. Within Whitney’s first year of life she needed many tests and procedures. She is weaned of oxygen and is on Silenafil with a Cardiac Cath to balloon open her left pulmonary artery. She has a G-tube and is completely dependent to survive. She is pretty small for her age but is growing steadily! She is on prevacid and bethanechol for GERD. She’s needed x-rays, Modified Barium Swallow Studies, Upper GI’s, Endoscopey’s, echo’s, and synagis shots. She continues to make progress with feeding therapy, speech therapy, and occupational therapy. She graduated Physical therapy by one year of age! Even though Whitney has some special needs, she is a very smart and happy little girl! We are so grateful for her and thank God every day. I knew it wouldn’t be easy, but it is worth it!

We agree wholeheartedly! 

Friday, March 2, 2012

Another Face of CDH - Gibson, an Amazing Warrior

Gibson in the NICU

Gibson's x-ray after surgery

Very proud Dad and Mom!

I have business to do!

Don't you wish you could wear this look this well?

In his parents words:

Our son, Gibson Jones, was diagnosed with a left-sided Congenital Diaphragmatic Hernia (CDH) at our twenty week ultrasound. We were told his chances of surviving this journey were extremely low. He was given a ten percent chance of living. Before this day we had never heard of a CDH. It has changed our lives forever.

We searched across the United States to find a medical facility that could handle such a serious condition and after being referred to a team of physicians and nurses in Salt Lake City, we discovered that the best team in the world was located just 200 miles south of us. Because we had found a highly qualified team of doctors and equipment, we relocated to Salt Lake during the last month of the pregnancy. Gibson was born March 31, 2011, in Salt Lake City at University of Utah Hospital and was then transported to Primary Children's Medical Center where he spent the next few months. As destiny would have it, this was National Diaphragmatic Hernia Day.

 Gibson had a rough start at life and required extracorporeal membrane oxygenation (ECMO), which is the strongest form of life support, when he was only six hours old. He was on ECMO for four days and it would have been longer, but he developed a brain hemorrhage and had also suffered a cerebellar stroke. He was taken off of ECMO and later that evening had a pulmonary hemorrhage. He was dying. The nurses and doctors had done everything they possibly could, but nothing was working and we all feared we would lose Gibson that night. Thankfully, a brilliant and talented surgeon was on-call that night and gave Gibson a special gift. He agreed to do Gibson's diaphragm repair surgery even though he was likely not going to survive the surgery; but he was definitely not going to live without it. To everyone's surprise, Gibson survived the surgery. Gibson survived the next twenty-four hours. Gibson survived his brain bleeds. He also survived pneumonia, a bowel obstruction surgery, and three months in the Neonatal Intensive Care Unit (NICU). He made an amazing recovery. We had a miracle baby!
When Gibson proved he was ready to come home, he required oxygen, had paralyzed vocal cords, and a feeding tube because he had an oral aversion. He was on eight different medications and was still very weak. Seven months later, Gibson has a permanent feeding tube in his belly and is learning how to eat normally. Due to the CDH, Gibson’s left lung was unable to develop normally. He is still on oxygen because of the undersized left lung, but he is getting stronger and is requiring less assistance. His left lung has grown some and his right lung has grown to compensate for the lack of the left. Our goal is for him to be off of oxygen completely in the coming months. Developmentally, Gibson has caught up with children his age and is as busy as any other little boy. He is so happy and so full of life. He has made us the proudest parents in the world and he is our little miracle.

 We are so thankful for modern medicine and the many, many doctors and nurses who took amazing care of Gibson while in the NICU at Primary Children’s Medical Center. They went above and beyond for our family and completely fell in love with Gibson. 

We have fallen in love too!