A year after Beau was born, and only months before we would be hit with his diagnosis (of partial agenesis of the corpus callosum, epilepsy, non-verbal and global developmental delay), we had been pregnant. It ended up being a partial molar pregnancy and obviously, as a result, the fetus contained 3 sets of chromosomes, was deformed and we would end up miscarrying. A partial molar pregnancy is a mess and isn't just like your typical miscarriage. It was months of blood tests and lots of doctors appointments. It turned out to be a blessing in disguise as Beau's health would take a turn for the worse just a few short months later.
Fast forward a couple years when we were finally ready to consider having another child. We worked with Beau's neurologist and the genetics team at the University of Iowa to run some tests to determine whether Andy and I were at risk of having another child like Beau. They ran testing based on his symptoms and nothing was found that indicated Andy or I had passed on any particular condition to Beau. We felt safe to try again for another child. Delaney was born in 2012 without complication and is an extremely healthy and very intelligent 6-year-old girl.
In August, during our visit with the neurologist, he recommended doing the GeneDX whole exome sequencing. The genetic counselor came in and spoke with us and we decided we would all be tested and see if maybe something would pop up. The routine testing we had done years ago hadn't provided any answers but it sounded like this might potentially give us our answer. Here is the definition from the GeneDX website as to what this test is:
Having almost forgotten about the testing, I was surprised when late Thursday night (while we were vacationing in Las Vegas) I got an email saying both Beau and I had test results in our MyChart. I immediately remembered the testing and opened up our charts only to find that it said we needed to contact our doctor for the results. Having used MyChart enough, I knew that if they hadn't found anything, the results would have been in the chart. It was after midnight that evening and on Friday I contacted the nurses in neurology. They let me know that we would have to consult with the genetic counselor to go over the results and she was already gone for the day. I knew then, that we definitely had an answer, I just didn't know what that answer might be.
Luckily the weekend kept me busy and distracted and right away on Monday morning I contacted the genetic counselor after dropping the kids off at school. I was happy that she picked up right away.
Imagine my feeling, when after almost 11 years, she told me, "Amanda, we found the answer."
Me: "You did?!?!"
I was excited, nervous, sad, scared all mixed into one. Maybe I didn't want to know. I mean, after all of these years, I had accepted the fact that God designed Beau to be unique and to teach us things about life, and the giving of oneself and he was just the way God designed him to be.
We didn't have an answer, the doctors didn't know, it was just a fluke. We knew we couldn't do anything to change that.
But on Monday, that answer came with the following letters and numbers: ZBTB18 related disorder.
What does that mean???
Honestly, we don't know all the specifics just yet. We will meet with the neurologist and genetic counselor in March. We know this is rare. We know that this genetic mutation in Beau did NOT come from Andy or me. If I'm being completely forthcoming here, I can't tell you how relieved that makes us feel. You don't want to feel like something in your DNA caused this mutation. You don't want to feel like you did this to your child. That sounds silly and I know no one chooses to pass on some genetic condition to their child. I just know that it provided me with a sense of relief.
We know from the counselor that this mutation matches up well with his symptoms. Individuals affected by ZBTB18 have intellectual delays, are usually non-verbal and they have disorders of the corpus callosum as well as other brain abnormalities. The only one she didn't see from the few other cases was epilepsy. However, when you have brain abnormalities it seems like epilepsy is always a possibility.
I really wish Dr. Joshi was here. She was baffled by Beau's case for years - always wanting to pinpoint the cause. Tests weren't as advanced 10 years ago. She'd be pleased to know we have an answer.
As I know there are some readers of this blog from all over the world, I would be interested to know if any of your children or anyone you know of might have this rare genetic mutation. It's a big longshot but you just never know! There isn't much information out there and it would be nice to compare notes, so to speak, with another family. I could probably provide a lot of information for another family since we have been doing this for 11 years, not knowing it was ZBTB18, but knowing we had a child with a brain abnormality and learning what we've learned over the years.
So for now, nothing changes. We keep on doing what we've done for nearly 11 years. We treat his symptoms, we get him the therapy he needs, we give him meds to control his epilepsy, we teach others about the beauty of those with intellectual disabilities, we advocate for those who don't have a voice, we give back to our community, we raise money and build an inclusive playground, we laugh, we play and most of all we love him. We thank God for designing Beau in such a unique and special way. We also thank Him for believing that Andy, Delaney and I, as well as our family, would be able to rise to the challenge. It's not easy. It's scary sometimes. It's frustrating some days. It's something that we will work through our entire lifetime. It doesn't end at age 18.
Today I am thankful for our answer. I'm thankful for advances in science and testing that led to this discovery. I'm thankful that having this answer might provide scientific data and information for future families. I'm thankful that you all follow along in our journey and share in all the highs and lows.
I hope all of you are lucky enough to know someone like Beau at some point in your life. They will teach you lessons you won't learn anywhere else.
In August, during our visit with the neurologist, he recommended doing the GeneDX whole exome sequencing. The genetic counselor came in and spoke with us and we decided we would all be tested and see if maybe something would pop up. The routine testing we had done years ago hadn't provided any answers but it sounded like this might potentially give us our answer. Here is the definition from the GeneDX website as to what this test is:
"XomeDx, or exome sequencing (ES), can be used to identify the underlying molecular basis of a genetic disorder in an affected individual and is best suited for patients who have a genetic condition that routine genetic testing has not been able to identify. The XomeDx test targets exons, which are the protein-coding regions of the human genome. Exons are captured and sequenced using massively parallel sequencing."
Having almost forgotten about the testing, I was surprised when late Thursday night (while we were vacationing in Las Vegas) I got an email saying both Beau and I had test results in our MyChart. I immediately remembered the testing and opened up our charts only to find that it said we needed to contact our doctor for the results. Having used MyChart enough, I knew that if they hadn't found anything, the results would have been in the chart. It was after midnight that evening and on Friday I contacted the nurses in neurology. They let me know that we would have to consult with the genetic counselor to go over the results and she was already gone for the day. I knew then, that we definitely had an answer, I just didn't know what that answer might be.
Luckily the weekend kept me busy and distracted and right away on Monday morning I contacted the genetic counselor after dropping the kids off at school. I was happy that she picked up right away.
Imagine my feeling, when after almost 11 years, she told me, "Amanda, we found the answer."
Me: "You did?!?!"
I was excited, nervous, sad, scared all mixed into one. Maybe I didn't want to know. I mean, after all of these years, I had accepted the fact that God designed Beau to be unique and to teach us things about life, and the giving of oneself and he was just the way God designed him to be.
We didn't have an answer, the doctors didn't know, it was just a fluke. We knew we couldn't do anything to change that.
But on Monday, that answer came with the following letters and numbers: ZBTB18 related disorder.
What does that mean???
Honestly, we don't know all the specifics just yet. We will meet with the neurologist and genetic counselor in March. We know this is rare. We know that this genetic mutation in Beau did NOT come from Andy or me. If I'm being completely forthcoming here, I can't tell you how relieved that makes us feel. You don't want to feel like something in your DNA caused this mutation. You don't want to feel like you did this to your child. That sounds silly and I know no one chooses to pass on some genetic condition to their child. I just know that it provided me with a sense of relief.
We know from the counselor that this mutation matches up well with his symptoms. Individuals affected by ZBTB18 have intellectual delays, are usually non-verbal and they have disorders of the corpus callosum as well as other brain abnormalities. The only one she didn't see from the few other cases was epilepsy. However, when you have brain abnormalities it seems like epilepsy is always a possibility.
I really wish Dr. Joshi was here. She was baffled by Beau's case for years - always wanting to pinpoint the cause. Tests weren't as advanced 10 years ago. She'd be pleased to know we have an answer.
As I know there are some readers of this blog from all over the world, I would be interested to know if any of your children or anyone you know of might have this rare genetic mutation. It's a big longshot but you just never know! There isn't much information out there and it would be nice to compare notes, so to speak, with another family. I could probably provide a lot of information for another family since we have been doing this for 11 years, not knowing it was ZBTB18, but knowing we had a child with a brain abnormality and learning what we've learned over the years.
So for now, nothing changes. We keep on doing what we've done for nearly 11 years. We treat his symptoms, we get him the therapy he needs, we give him meds to control his epilepsy, we teach others about the beauty of those with intellectual disabilities, we advocate for those who don't have a voice, we give back to our community, we raise money and build an inclusive playground, we laugh, we play and most of all we love him. We thank God for designing Beau in such a unique and special way. We also thank Him for believing that Andy, Delaney and I, as well as our family, would be able to rise to the challenge. It's not easy. It's scary sometimes. It's frustrating some days. It's something that we will work through our entire lifetime. It doesn't end at age 18.
Today I am thankful for our answer. I'm thankful for advances in science and testing that led to this discovery. I'm thankful that having this answer might provide scientific data and information for future families. I'm thankful that you all follow along in our journey and share in all the highs and lows.
I hope all of you are lucky enough to know someone like Beau at some point in your life. They will teach you lessons you won't learn anywhere else.
“For You formed my inward parts; You covered me in my mother’s womb. I will praise You, for I am fearfully and wonderfully made; marvelous are Your works, and that my soul knows very well. My frame was not hidden from You, when I was made in secret, and skillfully wrought in the lowest parts of the earth. Your eyes saw my substance, being yet unformed. And in Your book they all were written, the days fashioned for me, when as yet there were none of them. How precious also are Your thoughts to me, O God! How great is the sum of them!” Psalm 139:13-17.
