Please remember that CLE is not typically genetic. Most of the time, it happens spontaneously. I hope this brings you as much comfort as it did me.
My Ob/Gyn referred me to a genetic counselor and we also had a level 2 ultrasound to check the health of baby #3. I never updated you on the status of that meeting because we ended up nowhere.
On the ultrasound, our third child's lungs looked perfectly healthy, but since CLE is often not able to be diagnosed in the womb, this wasn't very reassuring to us.
The meeting with the genetic counselor was even less reassuring. CLE is rare, and our counselor wasn't as informed as we'd hoped she'd be. She said that it's never genetic. I knew better than that. On our CLE parents Facebook page, there is a woman who needed a lobectomy for CLE as a baby, and her daughter required one as well, due to CLE. Additionally, my pediatrician showed me one of his medical textbooks that stated that rarely, CLE is genetic, and that fathers and sons have been known to have CLE.
I left our meeting feeling discouraged at the lack of answers as well as the lack of information. However, when we ended our discussion, the genetic counselor said that she would look into CLE further and call me back.
Fifteen minutes later, my cell phone was ringing.
The genetic counselor said that a pediatric geneticist wanted to meet with us, and she scheduled an appointment for our one year old at Arkansas Children's Hospital.
We had our appointment last week.
In the months that have lapsed, I have given up on anyone being able to completely reassure me that all future babies will be healthy and free of CLE. Statistics, however, are on our side. Additionally, my lungs are fine, as are my husbands. Most likely, our son's CLE was completely sporadic. So going into this appointment, I expected to gain very little information.
The genetic counselor told me that at the very least, they would take blood from Andrew with the goal of creating a DNA microarray. One day, should more information on CLE be available, they will have his DNA to study and compare. Every year, exponentially more information is available in the area of DNA and genetics. I decided to approach our appointment with the interests of science in mind, knowing that we would probably get few reassurances.
Here's what our pediatric geneticist had to say.
There are three explanations for CLE:
1. It's sporadic and simply happens. This is, by far, the most common cause.
2. Genetic: A mother or father passes it on to their child. This happens very rarely, and only a few cases of parents & children both having CLE exist.
3. A Genetic Disorder causes it. This was completely new information for me. The doctor said that there are a few very rare genetic disorders that are connected with CLE. The reason he wanted to see us was so that he could do a thorough examination of Andrew and see if my son has any of these disorders. The doctor said "I wanted to see this little guy in person." Since our appointment has been scheduled for months, I'm really glad that I didn't know he would be looking for a disorder, or I would've had one more thing to worry about.
The doctor was wonderful with Andrew. He had an old fashioned leather doctor's bag that was full of toys perfect for my 17 month old. My toddler, who was stripped down to his diaper, didn't want to be poked and prodded by the doctor, but the toys provided a great distraction, and the doctor was one that had been around kids enough to know how to poke and prod without eliciting too many screeches from a touchy toddler.
The conclusion? My son is too healthy and too perfect to have any of those genetic disorders.
Any parent would love to hear this about their child, but one whose child had half a lung removed as a newborn really loves hearing such a positive statement about their child.
I wish I could tell you which genetic disorders he was looking for, but when he rattled off the name of one of them, I had no frame of reference to be able to remember it. I have no medical background, so it's all Greek to me.
The doctor said that the specific genetic disorders he was looking for have physical manifestations that would've been visible upon examination. Blood work is routine at a genetics appointment, but there was no need to take Andrew's blood for a DNA microarray or any other purpose, because the doctor was completely certain that Andrew is fine.
As for my future children and even grandchildren, the doctor said that I would have a better chance of winning the lottery than having another child born with CLE. Our pediatrician wants to do an x-ray of our baby's lungs a few weeks after birth, for precautionary measures, but the genetic doctor says that it's really not necessary.
Ultimately, I still have no reassurances that this isn't genetic, except that statistics are on our side. You can trust statistics if you like; I feel like God has given me a peace on this issue. Either our child's lungs are fine or they're not, and if they're not, He'll carry us through that journey, just like he did with Andrew.
If you want more information on the different causes of CLE, here's a website that my son's surgeon emailed to me. It doesn't have the information about the genetic disorders. I think those causes are so rare that there's little reason to be concerned about them.
Isabelle and Andrew enjoying the summer.
