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BFP 7/7/08, M/C 7/8/08, BFP 9/23/08, M/C 9/24/08, BFP 11/2/08 TWINS!,
Lost Our 10 month old Baby Boy Rowan 3/12/10 BFP 8/25/10
Rowan's Story (Long)
Ryan and I have decided that we are finally ready to tell the world how extraordinary and strong our baby boy really is.
Here's the story:
On March 31 (Ryan's Birthday) we had a ultrasound with our Perinatologist (High risk Dr. for twins). These ultrasounds are a lot more detailed that those at our OB's office. During that ultrasound the tech thought they saw an abnormality with the baby boy's brain. We were told that his ventricles (pools of fluid on his brain) were a little too big. This could mean something or this could mean nothing. We had a fetal MRI scheduled for two weeks later.
The fetal MRI showed that the ventricles were indeed enlarged but also that he was missing his Corpus Callosum. This is a membrane that sends messages from the left and right hemispheres of the brain. Agenesis of the Corpus Callosum is what this is called, or ACC. The MRI also noted that his brain was just a little too smooth, but for some reason we were not aware of this notation until later.
April 17th I stopped teaching and spent the next few weeks researching online all about what this meant for his future. We were devastated but were still holding out hope that the fetal MRI was inaccurate, after all how on earth do you take careful pictures of a squirming baby (let alone two of them) inside the womb.
As you all know they were born much to our surprise on May 7th. We were scheduled for another high tech ultrasound the day they were born, needless to say we did not make it to that one.
The next morning the day after they were born Rowan had a head ultrasound. It wasn't until that night that we were told that the results had confirmed what the fetal MRI had found. The Dr. (Dr. Doom actually) told us that Rowan's challenges were going to be great. I am not sure why but we still didn't understand the full physical effects of this until a few days later still. We were still holding out hope that he would need extra help but live a normal life. That night Ryan and I went back to my hospital room and mourned for our baby boy and realized this wasn't going to be the typical happy new baby experience.
It was a few days later the the geneticist came and talked to us about what his actual diagnosis was. It was the first time we heard the word Lissencephaly. I remember asking the Dr. if he would be classified as having a learning disability or if we were now looking at mental retardation. She very kindly told us that he would be mentally retarded. I have never cried so instantaneously in front of so many people in my life. Ryan and I sat and cried for a good while after they left.
Lissencephaly is a condition of the brain that means his brain is too smooth. Intelligence comes from the surface area of one's brain. That is why a normal brain has so many crevices. In order to get the most surface area you have to have more and deeper crevices. Rowan's brain is not completely smooth just too smooth. At this time we did not know how severe the smoothness was. He was no where near stable enough to go get an accurate picture with an MRI. Above I have linked a trusted website about Lissencephaly. Be careful what you read online. Not all of it is accurate or even related to Rowan's diagnoses.
We had Rowan's DNA tested to see if there was anything going on with his chromosomes. Chromosomes hold your genes and your genes are like the step by step instructions to tell your body how to work and how to grow. If some one has missing chromosomes (and therefore genes), called a deletion, or added ones (a duplication) it can really effect the list of instructions that your body knows to follow. Your body won't know what to do in some situations.
Hayden was also tested. And because Ryan and I had two previous miscarriages they would like to test our DNA to see if there is a reason for all of this in one of ours chromosomes. We are still waiting for our insurance company to approve this test for us.
Hayden's test came back fine. She had all her chromosomes no extras.
Rowan's test showed that he is missing part of his chromosome 14. On the q arm of the chromosome to be exact. So genetically his diagnoses is a "14q deletion". The part that is missing is a good chunk of that chromosome, around 200-500 genes. So like I said earlier he is missing a big part of the instructions for his body to follow. We know that at least one of the genes dealt with the way the brain was formed. And now possibly one had to do with the vessel that is pressing on his trachea. We don't know, or will we ever know what specific instructions the other 198-498 missing genes were meant give. We will just have to wait and see.
His deletion is like no one ever in the world (that has been documented). So we have no studies to go off of to see what those missing genes were originally supposed to do. And even if we did the other 20,000 genes that he does have are different than anyone else's (that's what makes everyone's DNA unique).
Rowan was finally able to go get an MRI a few weeks ago. The MRI again confirmed what all the other tests had shown. He is missing his corpus Callosum, he had enlarged ventricles, and his brain is too smooth. On a scale of 1-10 (10 being the worst) his smoothness is at a 7 or an 8. So it is pretty significant.
The geneticist came and met with us and Rowan again to talk about what happens next. We are getting set up with the foremost researcher in the world on Lissencephaly. He is out of Chicago. He will be looking at Rowan's DNA and his MRI scans. He probably won't be able to give us much more information but he would be able to document Rowan's case for other babies int he future.
We are able to look at other cases of Lissencephaly (it is way more common than we ever thought). The following information came from the Lissencephaly network in the UK:
Here's the story:
On March 31 (Ryan's Birthday) we had a ultrasound with our Perinatologist (High risk Dr. for twins). These ultrasounds are a lot more detailed that those at our OB's office. During that ultrasound the tech thought they saw an abnormality with the baby boy's brain. We were told that his ventricles (pools of fluid on his brain) were a little too big. This could mean something or this could mean nothing. We had a fetal MRI scheduled for two weeks later.
The fetal MRI showed that the ventricles were indeed enlarged but also that he was missing his Corpus Callosum. This is a membrane that sends messages from the left and right hemispheres of the brain. Agenesis of the Corpus Callosum is what this is called, or ACC. The MRI also noted that his brain was just a little too smooth, but for some reason we were not aware of this notation until later.
April 17th I stopped teaching and spent the next few weeks researching online all about what this meant for his future. We were devastated but were still holding out hope that the fetal MRI was inaccurate, after all how on earth do you take careful pictures of a squirming baby (let alone two of them) inside the womb.
As you all know they were born much to our surprise on May 7th. We were scheduled for another high tech ultrasound the day they were born, needless to say we did not make it to that one.
The next morning the day after they were born Rowan had a head ultrasound. It wasn't until that night that we were told that the results had confirmed what the fetal MRI had found. The Dr. (Dr. Doom actually) told us that Rowan's challenges were going to be great. I am not sure why but we still didn't understand the full physical effects of this until a few days later still. We were still holding out hope that he would need extra help but live a normal life. That night Ryan and I went back to my hospital room and mourned for our baby boy and realized this wasn't going to be the typical happy new baby experience.
It was a few days later the the geneticist came and talked to us about what his actual diagnosis was. It was the first time we heard the word Lissencephaly. I remember asking the Dr. if he would be classified as having a learning disability or if we were now looking at mental retardation. She very kindly told us that he would be mentally retarded. I have never cried so instantaneously in front of so many people in my life. Ryan and I sat and cried for a good while after they left.
Lissencephaly is a condition of the brain that means his brain is too smooth. Intelligence comes from the surface area of one's brain. That is why a normal brain has so many crevices. In order to get the most surface area you have to have more and deeper crevices. Rowan's brain is not completely smooth just too smooth. At this time we did not know how severe the smoothness was. He was no where near stable enough to go get an accurate picture with an MRI. Above I have linked a trusted website about Lissencephaly. Be careful what you read online. Not all of it is accurate or even related to Rowan's diagnoses.
We had Rowan's DNA tested to see if there was anything going on with his chromosomes. Chromosomes hold your genes and your genes are like the step by step instructions to tell your body how to work and how to grow. If some one has missing chromosomes (and therefore genes), called a deletion, or added ones (a duplication) it can really effect the list of instructions that your body knows to follow. Your body won't know what to do in some situations.
Hayden was also tested. And because Ryan and I had two previous miscarriages they would like to test our DNA to see if there is a reason for all of this in one of ours chromosomes. We are still waiting for our insurance company to approve this test for us.
Hayden's test came back fine. She had all her chromosomes no extras.
Rowan's test showed that he is missing part of his chromosome 14. On the q arm of the chromosome to be exact. So genetically his diagnoses is a "14q deletion". The part that is missing is a good chunk of that chromosome, around 200-500 genes. So like I said earlier he is missing a big part of the instructions for his body to follow. We know that at least one of the genes dealt with the way the brain was formed. And now possibly one had to do with the vessel that is pressing on his trachea. We don't know, or will we ever know what specific instructions the other 198-498 missing genes were meant give. We will just have to wait and see.
His deletion is like no one ever in the world (that has been documented). So we have no studies to go off of to see what those missing genes were originally supposed to do. And even if we did the other 20,000 genes that he does have are different than anyone else's (that's what makes everyone's DNA unique).
Rowan was finally able to go get an MRI a few weeks ago. The MRI again confirmed what all the other tests had shown. He is missing his corpus Callosum, he had enlarged ventricles, and his brain is too smooth. On a scale of 1-10 (10 being the worst) his smoothness is at a 7 or an 8. So it is pretty significant.
The geneticist came and met with us and Rowan again to talk about what happens next. We are getting set up with the foremost researcher in the world on Lissencephaly. He is out of Chicago. He will be looking at Rowan's DNA and his MRI scans. He probably won't be able to give us much more information but he would be able to document Rowan's case for other babies int he future.
We are able to look at other cases of Lissencephaly (it is way more common than we ever thought). The following information came from the Lissencephaly network in the UK:
"All children with Lissencephaly suffer from mental retardation, the degree of which can vary considerably and is very dependant on the type of lissencephaly, the degree of malformation (i.e. whether the whole brain is affected or just a part of it) and also whether the child suffers from seizures.
Seizures or fits occur in a large percentage of children. These may often be controlled by the use of anticonvulsant drugs or in some cases by a special diet, the 'Ketogenic diet'.
Feeding can be a problem. Many children may have to use a Gastronomy (or G-tube) to feed if they are unable to swallow correctly. Related to feeding problems is aspiration (the swallowing of food or other matter into the lungs). This can be the source of infection which can cause pneumonia or other chest problems which can be life threatening. Reflux (stomach contents coming back up through into the throat) can also be the cause of great discomfort. Reflux can be treated with medication or with surgery - the Nissen fundoplication."
Children
in Rowan's Situation do have a shortened life span. This is for two
reasons: One is the reflux. He could reflux and aspirate (spit up gets
into his lungs) and cause pneumonia.
The second is that with the missing genes his immune system is a lot
weaker than that of a normal person. The life span of a child with
Lissencephaly is any where from 2-30. But the later is pretty rare.
Anywhere under 10 is more likely.
From what Rowan is showing us is that he is bound to disprove what we do know about his condition. First of all...he should not have the coordination to eat from a bottle. Second he should not be able to play "Tummy Time". He is able to push up with his hands (while on our chests) to push his upper body up to see things better. He is moving like a normal baby and for the most part acting like one. He can see fairly well as far as we can tell and he can hear pretty well. He is focusing on faces and making facial expressions. All of these are things that he "should not" be able to do.
He is a very strong very extraordinary little boy. Life will be much more difficult than we imagined for him and us. We are determined not to let this ruin our lives. We are going to try to live a normal life while giving both kids even attention for their own individual needs.
We are over the mourning (for now) and excited to see what this little boy has in store for us.
BFP 7/7/08, M/C 7/8/08, BFP 9/23/08, M/C 9/24/08, BFP 11/2/08 TWINS!, Lost Our 10 month old Baby Boy Rowan 3/12/10 BFP 8/25/10
This discussion has been closed.
Re: Rowan's Story (Long)
Your story echoes what many of us have gone through.
You have a long road ahead of you and I hope that your DS exceeds all expectations.
Thank you for sharing.
This. Our DS has had issues with aspiration since birth, but we've had luck thickening his formula with cereal. He too is doing things he's not "supposed" to be able to do right now, if at all. He has taught us a lot already and brought great joy to our lives. I know Rowan will do the same for you and your family. God bless.
Nora Judith 7/2/06 Miles Chauncey 4/20/09 born with Trisomy 21 - Down syndrome
Thank you for sharing your story it?s very inspirational.
I hope that Rowan continues to defy the odds and makes the doctor have to rewrite what they know about the condition.
I have a friend whose son had cancer, are rare and dangerous cancer and was given a very poor prognosis, he did finally succumb, but it was after MANY MANY MANY years of fighting, he out lived both physically, developmental, and emotional what the experts said.
They had to fight and advocate for his care constantly, they had to fight w/ the insurance companies, they had to correct doctors and nurses about treatments and tests. Unfortunately nurses and doctor (and techs, and labs, ect) are human and make mistakes more that we care to realize.
I wish the best for your family and Rowan
Max 4-08-08 and Michael 2-03-91 (19 years olds)
Thank you for sharing your story I also have boy/girl twins and my son was diagnosed with pacygyria (smooth brain) similar to your son.
If you ever want to talk kerri.marsh@gmail.com