Today is my 30th birthday! In honor of this milestone, I'd like to share 30 facts about CDH. Although CDH is as common as other well-known birth defects like Spina Bifida and Cystic Fibrosis, many people have never heard of it. Our daughter will face many challenges starting at birth. This post is meant to help the reader better understand these challenges and the complexities of CDH.
Please note: I'm not a doctor. All of the following statistics and statements have been gathered through my own research.
1) The diaphragm is formed between week 7-10 of pregnancy. No one knows why the diaphragm does not form correctly in CDH babies.
2) The odds of having a CDH baby are about 1 in 2,500 live births.
3) Roughly 1,600 babies (out of 4 million) are born with CDH every year in the United States. About half of these babies will not survive.
4) Every day an estimated 4 families will receive a CDH diagnosis.
5) About 40% of CDH babies will also have another birth defect. This is called Complex CDH. The most common is a Congenital Heart Defect. Chromosomal abnormalities or genetic syndromes are also a concern.
6) About 60% of CDH babies will not have another identifiable birth defect. This is called Isolated CDH.
7) Parents who have had one child with an isolated CDH are at an increased risk (about 2%) to have another child with the same defect.
8) Amazingly, many CDH cases still aren't diagnosed until AFTER the baby is born. (Scary!)
9) The average hospital stay is 60 days.
10) Parents won't get to hold their babies right away since treatment begins immediately at birth. It could be weeks before this special moment occurs.
11) Most CDH babies will not be able to adequately breathe on their own and will need to be immediately intubated and ventilated. Additionally, most CDH babies will be unable to cry at birth.
12) Babies with severe breathing problems may need to be placed on ECMO (Extra Corporeal Membrane Oxygenation), a bypass machine for the heart and lungs. The baby's blood is oxygenated as it passes through the machine on its way back to the body, essentially taking the place of the heart and lungs so they can rest. ECMO can also result in serious complications such as bleeding and infection.
13) Many CDH babies have feeding and growth issues.
14) There is a high probability of CDH babies needing to come home on oxygen and with a feeding tube - either through the nose or surgically implanted in the stomach.
15) Many CDH babies have respiratory issues such as Asthma.
16) For reasons unknown to doctors, CDH babies are at risk for childhood hearing loss.
17) CDH babies have weakened immune systems and will need to be sheltered during cold and flu season. A simple cold could result in a hospital stay. Thankfully, this usually improves with age.
18) The lungs continue to develop until 9 years of age, so with proper treatment it's likely that CDH kids can continue to improve over time.
19) Many CDH babies re-herniate and will need one or more repair surgeries, especially in the early years.
20) Some CDH babies will be delayed in meeting developmental milestones such as sitting up, crawling, and walking.
21) CDH kids are lovingly referred to as "million dollar babies" because their treatment is so extensive and expensive.
22) Many CDH babies will have gastro-esophageol reflux disease (GERD) which can cause heartburn, vomiting, feeding problems, and lung issues. This can be treated with medication or surgery in the most severe cases.
23) CDH babies require more calories than their peers. This can be quite the challenge when coupled with their inherent feeding problems and is the main reason feeding tubes are sometimes necessary.
24) No two CDH babies are alike, even if their prognosis is similar. This makes it especially hard to anticipate how they will react to treatment.
25) The hernia can occur on the left side, right side, or in very rare cases, both sides.
26) 20% of CDH pregnancies are also diagnosed with polyhydramnios - an excess of amniotic fluid. This can lead to a variety of complications including premature birth.
27) CDH outcomes are greatly impacted by the position of the liver. The probability of survival is much greater if the liver stays down in the abdomen.
28) CDH babies require massive amounts of medication during their hospital stay. The necessity for pain management drugs such as morphine can result in severe withdrawal symptoms.
29) Some defects can be corrected by simply closing the hole in the diaphragm using surrounding tissue. Other more severe defects will need to be corrected using a GORE-TEX patch.
30) Though CDH babies have a rocky start, many survivors go on to lead relatively normal lives - with no evidence of their condition other than a few scars and battle wounds.
Sunday, October 26, 2014
Saturday, October 25, 2014
CHERUBS
Being the expectant parents of a CDH baby is in many ways a very lonely experience. People are empathetic, but they can't truly understand what you're going through (and that's okay!). Fortunately - or unfortunately depending on how you look at it - there are other CDH parents out there that go out of their way to let you know that you aren't alone. I've joined a wonderful group called CHERUBS and received an amazing CDH care package in the mail.
All of the items are donated by CDH parents in honor, or in memory of, their children. Dave and I are so thankful that organizations like this exist. CHERUBS is run by volunteers, and the organization really does amazing work. Please take the time the visit their site and consider making a donation.
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| Thank you, CHERUBS!! |
All of the items are donated by CDH parents in honor, or in memory of, their children. Dave and I are so thankful that organizations like this exist. CHERUBS is run by volunteers, and the organization really does amazing work. Please take the time the visit their site and consider making a donation.
Thursday, October 23, 2014
Back to the Beginning....
My husband Dave and I found out we were expecting a baby in July. We were thrilled! It was an exciting time, and we were anxiously awaiting our first doctor's appointment. At 11 weeks we ventured to Midwifery Care Associates to get our first look at the baby. The midwife started the sonogram, and all of a sudden there it was - a perfect teeny-tiny baby with a strong heartbeat rapidly moving its arms and legs in a pattern reminiscent of its father's moves on the dance floor. We were in awe and totally in love.
The appointment was routine. I asked about the First Trimester Screening (a blood draw and sonogram that is used to identify potential abnormalities). The midwife wrote up the order, and we were on our way.
Eleven days later I arrived at Washington Radiology Associates for my screening. Dave had stayed home. After all, I was 29 and healthy - nothing to worry about right? Wrong. I settled in for my sonogram and the tech was nice but pretty quiet. Soon the doctor came in to discuss her findings and to conduct his own short exam. The main predictor in abnormalities during this test is what's called the Nuchal Translucency or the NT measurement. Every baby has a collection of fluid behind its neck in early pregnancy. A normal measurement is considered under 3mm. My measurement was 6.1mm. Clearly something wasn't right. The doctor assured me that it could be nothing. The tech drew my blood and I was sent on my way to wait for the official results.
A week later we received a call from the midwife with my probabilities. Because the First Trimester Screening isn't a diagnostic test, the results are presented as probabilities of certain abnormalities. We were told that we were within the normal range for Trisomy 18 and Trisomy 13 (both are fatal chromosomal abnormalities), but that we had a 1 in 6 chance of our baby having Down Syndrome (Trisomy 21). Obviously this was not welcome news. We had a meeting with a genetic counselor at Greater Washington Maternal Fetal Medicine, and I had my blood drawn for a Free Cell DNA Screening Test called Panorama. The Panorama test is able to find fragments of the baby's DNA in my blood and analyze it for abnormalities. It's still a screening test, but the results are promoted as being 99% accurate. I also scheduled an amniocentesis to be conducted at 16 weeks. An amniocentesis was the only diagnostic test available for identifying chromosomal abnormalities in utero at that point in my pregnancy.
A week later we received the Panorama results - low risk for Trisomy 18, 13, and 21. Great news! The test also screened for a few less common abnormalities known as microdeletions (when parts of chromosomes are missing). Our results were low risk for those as well. We were relieved but knew that only the amnio could give us truly reliable answers.
On October 10 Dave and I arrived at the maternal fetal medicine office for the amniocentesis. A detailed sonogram is done prior to conducting the procedure to search for physical abnormalities. Again, the tech was excellent but relatively quiet. The doctor came in after she concluded her evaluation, and they looked at the baby together. At this point I knew something was off. They were talking in "doctor speak," but I'm smart enough to know when something is amiss. After a few minutes they clued us in to their findings. They showed us the baby's heart and then pointed out a black mass next to it. "That's the baby's stomach," they explained. Now I'm not a doctor, but I know enough about basic human anatomy to know that the stomach shouldn't be in the chest cavity. The baby's heart was on the right side instead of the left, pushed over by the stomach. The doctor continued, "Your baby has what's called a Congenital Diaphragmatic Hernia." He went on to explain that for reasons unknown to doctors, the development of the diaphragm is compromised in some babies - about 1,600 a year, in fact. Basically, the diaphragm didn't close properly allowing the organs to migrate into the chest cavity. This was quite a shock, even though I knew deep down something was wrong. I mean, there had to be a reason for the high NT. Be that as it may, I wasn't really prepared to learn that our baby has CDH.
The main concern with CDH is the development of the lungs since the organs constrict their growth. CDH babies have a 50/50 survival rate due to this complication. The doctor gave us some information on the condition and urged us to schedule a consultation with the Children's Hospital of Philadelphia (CHOP). We agreed and he facilitated our initial communication with CHOP. The amnio itself went very well, but it wasn't exactly pleasant. A long needle through the abdomen rarely is. Regardless, I knew it was important to find out as much as we could, especially since chromosomal abnormalities can be associated with CDH.
We went home and started researching CDH. CHOP called that afternoon and we set-up a consultation for November 5. We will head to Philly on the 4th since our day starts at 7:00am on the 5th. We will receive a tour of their facility and have multiple tests run: a high level sonogram lasting about two hours, a fetal MRI to get a better idea of where the organs are, and a fetal echocardiogram to determine if any heart defects are present. After the tests we will meet with a team of doctors including pediatric surgeons to go over the results and to diagnose the severity of the hernia.
We haven't visited CHOP yet but have already decided to give birth there. CHOP has a delivery unit specifically for babies with birth defects. This is pretty revolutionary for a children's hospital. Our baby will need immediate intervention, and CHOP is one of the best facilities in the nation for CDH. In fact, they quote their survival rate at 70% - a full 20% higher than the average. People from around the world go to CHOP, so they're used to out-of-towners. As it currently stands we will relocate to Philadelphia when I'm about 34 weeks (early February). We will likely stay at the Ronald McDonald House (a wonderful charity), and I will be constantly monitored until I go into labor. After the birth, a team of doctors will get to work trying to stabilize the baby. Once stabilized, the baby will be moved to the NICU. Surgery will be necessary and will be completed as soon as the doctors feel the baby can handle it. Best case scenario: we are able to come home in few months. Worst case scenario: we come home without our baby. NICU stays can be long and challenging, and it's impossible to know how the baby will cope with surgeries and to know how well the lungs will do on their own. All we can do is hope that things go well.
CHOP has a great website and YouTube channel with tons of great information:
CHOP's CDH Site
CHOP CDH YouTube Channel
This week we received our full amnio results and are happy to report that everything is clear. We are also thrilled to announce that we are expecting a GIRL! I am also having a microarray test done on the baby's DNA. Chromosomal microarray analysis is a method of measuring gains and losses of DNA throughout the human genome. It is a high-resolution whole-genome screening that can identify major chromosomal aneuploidy as well as the location and type of specific genetic changes that are too small to be detected by conventional karyotyping. Simply put, it's like an amnio on steroids. It is important for Dave and I to receive all of the prenatal testing currently available since any additional issues can make successful CDH treatment nearly impossible. We are doing our best to ensure we make the most informed decisions for our baby girl.
We understand that this is a lot of information and that you may have questions or may want to reach out. This is fine! The purpose of this blog is to keep everyone informed throughout this process; it's not to keep friends and family at arm's length. We welcome your well wishes, prayers, and support.
In the coming posts we will describe some of the challenges CDH babies face and some of the hurdles our daughter will have to overcome. We will also provide updates as we learn more about her condition and treatment.
Thanks for reading and for your love and support.
XOXO,
Allison & Dave
The appointment was routine. I asked about the First Trimester Screening (a blood draw and sonogram that is used to identify potential abnormalities). The midwife wrote up the order, and we were on our way.
Eleven days later I arrived at Washington Radiology Associates for my screening. Dave had stayed home. After all, I was 29 and healthy - nothing to worry about right? Wrong. I settled in for my sonogram and the tech was nice but pretty quiet. Soon the doctor came in to discuss her findings and to conduct his own short exam. The main predictor in abnormalities during this test is what's called the Nuchal Translucency or the NT measurement. Every baby has a collection of fluid behind its neck in early pregnancy. A normal measurement is considered under 3mm. My measurement was 6.1mm. Clearly something wasn't right. The doctor assured me that it could be nothing. The tech drew my blood and I was sent on my way to wait for the official results.
A week later we received a call from the midwife with my probabilities. Because the First Trimester Screening isn't a diagnostic test, the results are presented as probabilities of certain abnormalities. We were told that we were within the normal range for Trisomy 18 and Trisomy 13 (both are fatal chromosomal abnormalities), but that we had a 1 in 6 chance of our baby having Down Syndrome (Trisomy 21). Obviously this was not welcome news. We had a meeting with a genetic counselor at Greater Washington Maternal Fetal Medicine, and I had my blood drawn for a Free Cell DNA Screening Test called Panorama. The Panorama test is able to find fragments of the baby's DNA in my blood and analyze it for abnormalities. It's still a screening test, but the results are promoted as being 99% accurate. I also scheduled an amniocentesis to be conducted at 16 weeks. An amniocentesis was the only diagnostic test available for identifying chromosomal abnormalities in utero at that point in my pregnancy.
A week later we received the Panorama results - low risk for Trisomy 18, 13, and 21. Great news! The test also screened for a few less common abnormalities known as microdeletions (when parts of chromosomes are missing). Our results were low risk for those as well. We were relieved but knew that only the amnio could give us truly reliable answers.
On October 10 Dave and I arrived at the maternal fetal medicine office for the amniocentesis. A detailed sonogram is done prior to conducting the procedure to search for physical abnormalities. Again, the tech was excellent but relatively quiet. The doctor came in after she concluded her evaluation, and they looked at the baby together. At this point I knew something was off. They were talking in "doctor speak," but I'm smart enough to know when something is amiss. After a few minutes they clued us in to their findings. They showed us the baby's heart and then pointed out a black mass next to it. "That's the baby's stomach," they explained. Now I'm not a doctor, but I know enough about basic human anatomy to know that the stomach shouldn't be in the chest cavity. The baby's heart was on the right side instead of the left, pushed over by the stomach. The doctor continued, "Your baby has what's called a Congenital Diaphragmatic Hernia." He went on to explain that for reasons unknown to doctors, the development of the diaphragm is compromised in some babies - about 1,600 a year, in fact. Basically, the diaphragm didn't close properly allowing the organs to migrate into the chest cavity. This was quite a shock, even though I knew deep down something was wrong. I mean, there had to be a reason for the high NT. Be that as it may, I wasn't really prepared to learn that our baby has CDH.
The main concern with CDH is the development of the lungs since the organs constrict their growth. CDH babies have a 50/50 survival rate due to this complication. The doctor gave us some information on the condition and urged us to schedule a consultation with the Children's Hospital of Philadelphia (CHOP). We agreed and he facilitated our initial communication with CHOP. The amnio itself went very well, but it wasn't exactly pleasant. A long needle through the abdomen rarely is. Regardless, I knew it was important to find out as much as we could, especially since chromosomal abnormalities can be associated with CDH.
We went home and started researching CDH. CHOP called that afternoon and we set-up a consultation for November 5. We will head to Philly on the 4th since our day starts at 7:00am on the 5th. We will receive a tour of their facility and have multiple tests run: a high level sonogram lasting about two hours, a fetal MRI to get a better idea of where the organs are, and a fetal echocardiogram to determine if any heart defects are present. After the tests we will meet with a team of doctors including pediatric surgeons to go over the results and to diagnose the severity of the hernia.
We haven't visited CHOP yet but have already decided to give birth there. CHOP has a delivery unit specifically for babies with birth defects. This is pretty revolutionary for a children's hospital. Our baby will need immediate intervention, and CHOP is one of the best facilities in the nation for CDH. In fact, they quote their survival rate at 70% - a full 20% higher than the average. People from around the world go to CHOP, so they're used to out-of-towners. As it currently stands we will relocate to Philadelphia when I'm about 34 weeks (early February). We will likely stay at the Ronald McDonald House (a wonderful charity), and I will be constantly monitored until I go into labor. After the birth, a team of doctors will get to work trying to stabilize the baby. Once stabilized, the baby will be moved to the NICU. Surgery will be necessary and will be completed as soon as the doctors feel the baby can handle it. Best case scenario: we are able to come home in few months. Worst case scenario: we come home without our baby. NICU stays can be long and challenging, and it's impossible to know how the baby will cope with surgeries and to know how well the lungs will do on their own. All we can do is hope that things go well.
CHOP has a great website and YouTube channel with tons of great information:
CHOP's CDH Site
CHOP CDH YouTube Channel
This week we received our full amnio results and are happy to report that everything is clear. We are also thrilled to announce that we are expecting a GIRL! I am also having a microarray test done on the baby's DNA. Chromosomal microarray analysis is a method of measuring gains and losses of DNA throughout the human genome. It is a high-resolution whole-genome screening that can identify major chromosomal aneuploidy as well as the location and type of specific genetic changes that are too small to be detected by conventional karyotyping. Simply put, it's like an amnio on steroids. It is important for Dave and I to receive all of the prenatal testing currently available since any additional issues can make successful CDH treatment nearly impossible. We are doing our best to ensure we make the most informed decisions for our baby girl.
We understand that this is a lot of information and that you may have questions or may want to reach out. This is fine! The purpose of this blog is to keep everyone informed throughout this process; it's not to keep friends and family at arm's length. We welcome your well wishes, prayers, and support.
In the coming posts we will describe some of the challenges CDH babies face and some of the hurdles our daughter will have to overcome. We will also provide updates as we learn more about her condition and treatment.
Thanks for reading and for your love and support.
XOXO,
Allison & Dave
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| Just kickin' back completely unaware of how much stress she's causing Mommy and Daddy. |
 |
| Hi everybody! |
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