True to form, less than a day after we posted our last blog entry, we heard back from the pulmonologist. The results were somewhat of a mixed bag. On the plus side of the ledger, even though the instances of apnea for Gwen actually increased this time, she had good moments of REM sleep. The first time, she hardly had any REM sleep and that is the most important in the sleep cycle. Also, this sleep study showed that her apneas were predominately central in nature. That means that the breathing issues she is having are based in the brain someplace, and so a tracheotomy is unnecessary at this point.
As for the ramifications of having significant apnea spells that are centralized, that is a very fluid topic. The heart of the discussion revolves around Gwendolyn having a chiari malformation. For those of you new to the blog or who don’t remember from other times it was brought up, this is basically a side effect of prenatally developing in the womb with a myelomeningocele form of spina bifida. Type II (also called Arnold-Chiari malformation) is common for babies experiencing myelomeningocele. Basically, the cerebellum and brainstem are pushed downward. The resulting pressure on the cerebellum blocks the flow of cerebrospinal fluid (the liquid that surrounds and protects the brain and spinal cord) and can cause a range of symptoms including the ability to breath normally during rest. Hydrocephalus (a.k.a. water on the brain) is a common side effect of those experiencing a chiari malformation and its presence is exactly what caused Gwen to have a shunt put in shortly after she was born. The long and short of it is that we know she’s got a chiari malformation (all kiddos with a myelomeningocele seem to have it at some level); it’s just a matter of how significant it is and how much it’s affecting her.
But here’s the catch, four weeks after Gwen was born, they did an MRI of her brain. However, the results were inconclusive and open to interpretation. Our new pulmonologist feels that the chiari malformation is the culprit of Gwen’s apnea. So, he has asked that we get a new MRI of that area (tentatively set for September 24th) as well as a study to measure the flow of her cerebrospinal fluid to see if there are any abnormalities present. Since MRIs obviously give you the clearest picture when the subject isn’t moving (and that is a likely reason the initial one is hazily inconclusive), she will have to be sedated (and therefore will be intubated yet again) to ensure she doesn’t move for this MRI.
Now for the exacerbating part... Even if the MRI and/or cerebrospinal fluid flow study lead the doctors to feel that Gwen does have an significant chiari malformation, the course of action is questionable. Again, for those of you that have followed the blog before, you know that the possibility of Gwen having a serious chiari malformation has been raised in the past. And the “fix” for it is a decompression surgery that hopefully reduces the swelling in the area where the cerebellum and brain stem are compacted. However, there’s no guarantee that the area in question can be decompressed… Or that the decompression will in fact reduce the swelling, thereby allowing for a more normal flow of her cerebrospinal fluid… Or even if the she is successfully decompressed and the swelling does reduce that the damage already done is reversible. As a result, our neurologist has been adamantly opposed to trying the procedure in Gwen’s case because, in his determination, the risk of her going through another brain surgery just isn’t worth the reward of a possible improvement that could be marginal at best. It’s just an area that’s so “grey” in nature and his earlier thoughts were that Gwen simply isn’t in a dire situation that warrants such an invasive procedure.
So what do we know for sure? We know that drama seems to be a constant with the Gwenner. We know that on a positive note, Gwen won’t be getting a trach. And we have the solace that while so much is still uncertain, if this condition is ultimately the cause of Gwen’s troubles; it is far from a unique case. Prior to this, there always seemed to be an uneasiness about Gwen’s circumstances. We never liked hearing what a “unique” case she was. Maybe in fact, she’s just experiencing the results of something that is quite common amongst her peers.
We’ll obviously let you know when Gwen’s additional diagnostic tests have been scheduled and what the results ultimately are. Still, at this point we don’t know much else in terms of timetables or the resulting actions that will be taken.
So, here we sit on Friday and the only thing we know for certain is that Gwen doesn’t need a trach. And while the reminder of the news isn’t quite what we had hoped for, we know that thanks to your thoughts and prayers we’ll be able to make it through this situation like he have our other hurdles, one day at a time.
As for the ramifications of having significant apnea spells that are centralized, that is a very fluid topic. The heart of the discussion revolves around Gwendolyn having a chiari malformation. For those of you new to the blog or who don’t remember from other times it was brought up, this is basically a side effect of prenatally developing in the womb with a myelomeningocele form of spina bifida. Type II (also called Arnold-Chiari malformation) is common for babies experiencing myelomeningocele. Basically, the cerebellum and brainstem are pushed downward. The resulting pressure on the cerebellum blocks the flow of cerebrospinal fluid (the liquid that surrounds and protects the brain and spinal cord) and can cause a range of symptoms including the ability to breath normally during rest. Hydrocephalus (a.k.a. water on the brain) is a common side effect of those experiencing a chiari malformation and its presence is exactly what caused Gwen to have a shunt put in shortly after she was born. The long and short of it is that we know she’s got a chiari malformation (all kiddos with a myelomeningocele seem to have it at some level); it’s just a matter of how significant it is and how much it’s affecting her.
But here’s the catch, four weeks after Gwen was born, they did an MRI of her brain. However, the results were inconclusive and open to interpretation. Our new pulmonologist feels that the chiari malformation is the culprit of Gwen’s apnea. So, he has asked that we get a new MRI of that area (tentatively set for September 24th) as well as a study to measure the flow of her cerebrospinal fluid to see if there are any abnormalities present. Since MRIs obviously give you the clearest picture when the subject isn’t moving (and that is a likely reason the initial one is hazily inconclusive), she will have to be sedated (and therefore will be intubated yet again) to ensure she doesn’t move for this MRI.
Now for the exacerbating part... Even if the MRI and/or cerebrospinal fluid flow study lead the doctors to feel that Gwen does have an significant chiari malformation, the course of action is questionable. Again, for those of you that have followed the blog before, you know that the possibility of Gwen having a serious chiari malformation has been raised in the past. And the “fix” for it is a decompression surgery that hopefully reduces the swelling in the area where the cerebellum and brain stem are compacted. However, there’s no guarantee that the area in question can be decompressed… Or that the decompression will in fact reduce the swelling, thereby allowing for a more normal flow of her cerebrospinal fluid… Or even if the she is successfully decompressed and the swelling does reduce that the damage already done is reversible. As a result, our neurologist has been adamantly opposed to trying the procedure in Gwen’s case because, in his determination, the risk of her going through another brain surgery just isn’t worth the reward of a possible improvement that could be marginal at best. It’s just an area that’s so “grey” in nature and his earlier thoughts were that Gwen simply isn’t in a dire situation that warrants such an invasive procedure.
So what do we know for sure? We know that drama seems to be a constant with the Gwenner. We know that on a positive note, Gwen won’t be getting a trach. And we have the solace that while so much is still uncertain, if this condition is ultimately the cause of Gwen’s troubles; it is far from a unique case. Prior to this, there always seemed to be an uneasiness about Gwen’s circumstances. We never liked hearing what a “unique” case she was. Maybe in fact, she’s just experiencing the results of something that is quite common amongst her peers.
We’ll obviously let you know when Gwen’s additional diagnostic tests have been scheduled and what the results ultimately are. Still, at this point we don’t know much else in terms of timetables or the resulting actions that will be taken.
So, here we sit on Friday and the only thing we know for certain is that Gwen doesn’t need a trach. And while the reminder of the news isn’t quite what we had hoped for, we know that thanks to your thoughts and prayers we’ll be able to make it through this situation like he have our other hurdles, one day at a time.
I was anxious to read an update, to see how Gwen is doing obviously and because our experience with our son Alex seems to have many commonalities. We are still waiting to hear when our official sleep study at the clinic will be. I'm sorry you got such a mixed bag of news. Not needing the Trach is fabulous ofcourse but the rest...well uncertainty is never easy. I am sending my hugs and prayers and will continue to follow with hopes of very postive updates. one day at a time like you said. ps the pic is just priceless!
ReplyDeleteAll the best, Holli