Hey everyone - Just wanted to post a quick update on the latest with the girls...
we heard from the geneticist at Riley and the panel that they ran on Lilys DNA came back normal. This really just means that whatever is causing this cranio issue they don't have record of to compare it against or it just isn't one of the major tests they ran. They will dig a bit deeper and we should hear something within a couple of weeks. I guess this is a good thing because it isn't a major syndrome or something. I would say it is unlikely to be a syndrome- just cranio by itself.
Our family is going to participate in a research study completed by Seattle Childrens Hospital inconjunction with two universities to further ID what causes cranio. We are an interesting case because it has affected all three kids with two different mommies. We are probably the only ones with this spread out there. We are SOOOO special...
Lily has been doing great with all her therapies. She started a brushing program for sensory integration this week- it stinks because it is hard to remember to do...She also started Craniosacral therapy. The therapist was very impressive. Clearly it was doing something just not sure what ;-) She has days her auditory comprehension is pretty darn good. And others it is amazing she has any speech at all. I am certain with all the help she is getting that she will be fine. She will have her 30 month evaluation for the possibility of placement in a developmental preschool soon. Not sure how to go on that deal. We shall see what if anything she will qualify for.
On a bummer note Dr Vicari is not covered on our new (or old) insurance. So we will either have to do the cosmetic stuff with someone else or wait until circumstances change and he is covered. It will likely be the latter. He is lovely and the best Craniofacial surgeon. So there it is.
Well gotta go watch a movie. We are so enjoying the simplicity of just being for a while. Things have been so crazy the last few months it is wonderful just to enjoy the holidays.
Julie
Friday, December 5, 2008
Tuesday, November 18, 2008
The verdict is in...NO SURGERY NEXT WEEK!!!
Hey everyone. Thank you so much for your calls, emails and prayers. We met with Dr. Vicari in Chicago today and we are cancelling the surgery for next week. Wahhoooo!!!
While he did say they have cranio, and that the surgery is justified, it is not something he would normally do unless the childs orbits(eye sockets) are also more involved- he feels that her ridge will likely improve over time and would like to see her again for some fairly minor plastic surgery to reduce the ridge.
We are very very relieved and feel like this was a "God" thing so we are confident in this decision. He also feels like Leah will also likely improve with time and serious surgery may possibly be avoided with her. What I love about Dr. Vicari is how much he observed Lily and considered the family history in his decision. He treated her as a healthy beautiful little girl with a metopic ridge- not like another cranio case. It was definitely worth the trip to see him. We are planning on switching to Anthem at the new year so that we can work only with him in the future.
Julie
While he did say they have cranio, and that the surgery is justified, it is not something he would normally do unless the childs orbits(eye sockets) are also more involved- he feels that her ridge will likely improve over time and would like to see her again for some fairly minor plastic surgery to reduce the ridge.
We are very very relieved and feel like this was a "God" thing so we are confident in this decision. He also feels like Leah will also likely improve with time and serious surgery may possibly be avoided with her. What I love about Dr. Vicari is how much he observed Lily and considered the family history in his decision. He treated her as a healthy beautiful little girl with a metopic ridge- not like another cranio case. It was definitely worth the trip to see him. We are planning on switching to Anthem at the new year so that we can work only with him in the future.
Julie
Thursday, November 13, 2008
HOW???
So far we have surgery scheduled for less than two weeks away. The only thing that will change that is one of three things: Illness. Our third opinion next Tuesday comes up with something different that we trust more. Or divine inspiration that would likely come from prayer/ and or the number two option anyway. So it is Dr. Vicari (Chicago)or bust.
Dr. Ackerman (Riley) is recommending a reconstructive craniectomy- which is where they remove part of the the skull- in this case the frontal bone, reconstruct/ contour its appearance including breaking the bone where the suture should be and replace it to establish a more normal growth pattern and appearance. They will do this using plastic screws and floating plastic disks they place in the metopic suture and the frontal/ brow bone. They will be widening the brow a bit to make for a more normal looking temple area. Lilys are narrow. It is our understanding that although they will be working in the eye area they will not be changing anything about their appearance.
She will be in the pediatric intensive care unit for at least 1 day - likely two then hopefully transferred for the next three to five days for continued healing before returning home. They will wake her up as soon as possible after the surgery which to my understanding is to help her metabolize the drugs quicker. However she will be very very grumpy.
I cannot even begin to imagine what those days in the hospital will be like but we have our faith and amazing family and friends who have offered to help in any way they can. This is a tremendous comfort.
Lily is remarkably expected to be able to return home with "light play duty" but they glue things back together pretty well and most parents say their kids are back to themselves in a couple of weeks.
I just want this to be over if it is going to happen - after the Vicari appointment if we are still going forward we will begin to discuss the surgery with Miss Lily. She is very aware that something is going on- however with her comprehension issues and age she doesn't have all the details just yet. She told me one day that they are going to "fix her ridge" so she is getting alot of it. It will be over soon either way and for better or worse no turning back...I'm reminded of my beloved Papaw chone (Grandma Joan in Lily-speak) and her most quoted and wise saying "This too will pass" so simple and so true.
Dr. Ackerman (Riley) is recommending a reconstructive craniectomy- which is where they remove part of the the skull- in this case the frontal bone, reconstruct/ contour its appearance including breaking the bone where the suture should be and replace it to establish a more normal growth pattern and appearance. They will do this using plastic screws and floating plastic disks they place in the metopic suture and the frontal/ brow bone. They will be widening the brow a bit to make for a more normal looking temple area. Lilys are narrow. It is our understanding that although they will be working in the eye area they will not be changing anything about their appearance.
She will be in the pediatric intensive care unit for at least 1 day - likely two then hopefully transferred for the next three to five days for continued healing before returning home. They will wake her up as soon as possible after the surgery which to my understanding is to help her metabolize the drugs quicker. However she will be very very grumpy.
I cannot even begin to imagine what those days in the hospital will be like but we have our faith and amazing family and friends who have offered to help in any way they can. This is a tremendous comfort.
Lily is remarkably expected to be able to return home with "light play duty" but they glue things back together pretty well and most parents say their kids are back to themselves in a couple of weeks.
I just want this to be over if it is going to happen - after the Vicari appointment if we are still going forward we will begin to discuss the surgery with Miss Lily. She is very aware that something is going on- however with her comprehension issues and age she doesn't have all the details just yet. She told me one day that they are going to "fix her ridge" so she is getting alot of it. It will be over soon either way and for better or worse no turning back...I'm reminded of my beloved Papaw chone (Grandma Joan in Lily-speak) and her most quoted and wise saying "This too will pass" so simple and so true.
WHY???
When Ted was born some 16 years ago his metopic craniosynostosis was a shock to everyone involved. It required a craniectomy which is the surgery Lily is recommended to have. The doctors involved chalked it up to a fluke- nothing more than an isolated case of a change in the pattern of early development which would be of no consequence- do the surgery and move on...
When Lily was born with the ridge in exactly the same place as her big brother we had to wonder why. We spoke to the neurosurgeon and later to a genetic counselor who agreed there was a difference in the way the bones came together but that it was a different trait - like a cleft in the chin. It makes for a different appearance but otherwise inconsequential. Okie dokie and away we went...
Now clearly with the third child and two different wives :-) something genetic is amiss and they are recommending surgery. EEEKS.
So we went to the geneticist at Riley. Here is the gist of what was found- at least so far.
This is the story of the visit.It was like 2 1/2 hours long. They stripped the girls down and checked everything you can imagine looking for a syndrome. They found some common traits although the gist was it was likely nonsyndromic. Some of these traits were unibrown (They totally got that from me I'm sure :-), slightly crowded toes, a fat role in their forearm (which is just stinkin cute so whatever), posteriorly rotated ears on one side, flared rib cage, and a few stork bites/angel kisses (red marks that are benign and usually go away)...Apparently non syndromic metopic craniosynostosis is located on the FGFR 1 gene where as syndromic is usually on 3. It can occur through a mutation or be heritary and it is autosomal dominant so an affected person has a 50/50 chance of passing it on to their children. This is the highest chance for most genetic conditions- at least the dominant ones. One question I had was if my kids have just single suture cranio might the gene further mutate into a syndrome like crouzons or something and they said no. It could of course but they are different genes so they would both have to mutate and that is very highly unlikely. So I assume if it is nonsyndromic it should stay that way in future offspring. They said there are over 150 syndromes for single suture cranio and several with metopic although they are uncommon. They took the girls' picture for their records and noted the now fairly obvious ridge on my husbands baby picture and that of his father. Mild at the time and certainly not operated on but armed with this insight it was clear to me when I looked at the photographs. Interestingly, they did not have ridges as adults. Clearly our story is a genetic one.
The blood work was done but it takes 4 wks to complete and they are doing all three FGFR 1, 2, and 3 with the "hotspots" only - if they are clean they will do the whole panel. This testing is at least in the $2-3,000 range at the least.
It was interesting in that Bob and I had never sat down and looked at his baby pictures- he totally had a metopic ridge and the narrow temples. AND now he doesn't. The question has been posed, "How do you know the girls' wont go away too?" The surgeons can't answer that except to say that it would appear the girls' is more severe than the others. Also with increased age the bone gets thicker and harder to change so surgery is most successful earlier- usually before 1 year. Couple that with the risk of difficulties to the developing brain and surgery is recommended. But it remains our choice- unfortunately not an easy one.
When Lily was born with the ridge in exactly the same place as her big brother we had to wonder why. We spoke to the neurosurgeon and later to a genetic counselor who agreed there was a difference in the way the bones came together but that it was a different trait - like a cleft in the chin. It makes for a different appearance but otherwise inconsequential. Okie dokie and away we went...
Now clearly with the third child and two different wives :-) something genetic is amiss and they are recommending surgery. EEEKS.
So we went to the geneticist at Riley. Here is the gist of what was found- at least so far.
This is the story of the visit.It was like 2 1/2 hours long. They stripped the girls down and checked everything you can imagine looking for a syndrome. They found some common traits although the gist was it was likely nonsyndromic. Some of these traits were unibrown (They totally got that from me I'm sure :-), slightly crowded toes, a fat role in their forearm (which is just stinkin cute so whatever), posteriorly rotated ears on one side, flared rib cage, and a few stork bites/angel kisses (red marks that are benign and usually go away)...Apparently non syndromic metopic craniosynostosis is located on the FGFR 1 gene where as syndromic is usually on 3. It can occur through a mutation or be heritary and it is autosomal dominant so an affected person has a 50/50 chance of passing it on to their children. This is the highest chance for most genetic conditions- at least the dominant ones. One question I had was if my kids have just single suture cranio might the gene further mutate into a syndrome like crouzons or something and they said no. It could of course but they are different genes so they would both have to mutate and that is very highly unlikely. So I assume if it is nonsyndromic it should stay that way in future offspring. They said there are over 150 syndromes for single suture cranio and several with metopic although they are uncommon. They took the girls' picture for their records and noted the now fairly obvious ridge on my husbands baby picture and that of his father. Mild at the time and certainly not operated on but armed with this insight it was clear to me when I looked at the photographs. Interestingly, they did not have ridges as adults. Clearly our story is a genetic one.
The blood work was done but it takes 4 wks to complete and they are doing all three FGFR 1, 2, and 3 with the "hotspots" only - if they are clean they will do the whole panel. This testing is at least in the $2-3,000 range at the least.
It was interesting in that Bob and I had never sat down and looked at his baby pictures- he totally had a metopic ridge and the narrow temples. AND now he doesn't. The question has been posed, "How do you know the girls' wont go away too?" The surgeons can't answer that except to say that it would appear the girls' is more severe than the others. Also with increased age the bone gets thicker and harder to change so surgery is most successful earlier- usually before 1 year. Couple that with the risk of difficulties to the developing brain and surgery is recommended. But it remains our choice- unfortunately not an easy one.
WHAT???
Following definition courtesy of http://www.cappskids.org/- a great resource for craniosynososis.
Craniosynostosis is a congenital anomaly characterized by the premature closure of one or more cranial sutures (the fibrous joints between the bones of the skull). The disorder results in an abnormal skull and head shape. Most cases are sporadic, although there are several genetic syndromes with Craniosynostosis. Disorders of the fibroblast growth factor receptor molecule have been recently found in some cases of hereditary Craniosynostosis.
Five separate bones make up the cranium of the head: the occipital bone (back portion of the skull); two parietal bones (on either side of the skull); and two frontal bones (front portion of the skull). The bones, which are in place by the 5th month of gestation, are like pieces of a puzzle, and are initially separated by sutures (or fibrous joints). The skull bones, coupled with the sutures, form a protective shield for the brain.
As the brain grows, the sutures allow the skull to expand rapidly. If for any reason one or more of the sutures closes too early, the skull grows in a different direction where the bones are not resisting growth, thereby resulting in skull deformities.
In our childrens case- it is metopic craniosynostosis. This means the frontal bones which come together to form the forehead closed too soon. The metopic suture is usually the first to close in normal development so the appearance is not far from normal aside from the prominent ridge. The incidence of craniosynostosis is 1 in 3,000 live births and of the cases of this only 5-10% are of the metopic suture. So the incidence of metopic craniosynostosis is between 1 in 30,000 to 1 in 60,000. If you are good at math you will find that we have three out of three kids with this condition which is well...uncommon... which brings us to the question of why?
Craniosynostosis is a congenital anomaly characterized by the premature closure of one or more cranial sutures (the fibrous joints between the bones of the skull). The disorder results in an abnormal skull and head shape. Most cases are sporadic, although there are several genetic syndromes with Craniosynostosis. Disorders of the fibroblast growth factor receptor molecule have been recently found in some cases of hereditary Craniosynostosis.
Five separate bones make up the cranium of the head: the occipital bone (back portion of the skull); two parietal bones (on either side of the skull); and two frontal bones (front portion of the skull). The bones, which are in place by the 5th month of gestation, are like pieces of a puzzle, and are initially separated by sutures (or fibrous joints). The skull bones, coupled with the sutures, form a protective shield for the brain.
As the brain grows, the sutures allow the skull to expand rapidly. If for any reason one or more of the sutures closes too early, the skull grows in a different direction where the bones are not resisting growth, thereby resulting in skull deformities.
In our childrens case- it is metopic craniosynostosis. This means the frontal bones which come together to form the forehead closed too soon. The metopic suture is usually the first to close in normal development so the appearance is not far from normal aside from the prominent ridge. The incidence of craniosynostosis is 1 in 3,000 live births and of the cases of this only 5-10% are of the metopic suture. So the incidence of metopic craniosynostosis is between 1 in 30,000 to 1 in 60,000. If you are good at math you will find that we have three out of three kids with this condition which is well...uncommon... which brings us to the question of why?
The beginning...
Lily was born with a ridge down the center of her forehead. It wasn't a huge issue- people really didn't notice and we didn't care because she was still the most beautiful little girl our eyes had known. As she aged her head circumference was a bit small and given the family history of craniosynostosis (big bro Teddy had this with surgery to correct it) and the bump we were referred to a neurosurgeon. They too were concerned and at 3 months it revealed that the suture was not fused and no follow up was needed. So we didn't.
When Lily was 24 months we changed pediatricians and I took Lily in for a checkup due to concerns regarding her having difficulty with following directions - also known as auditory comprehension. They noted the ridge down her forehead and referred us for another CT scan which showed that the suture was indeed fused. At first we were upset until we (and they) realized at this age it should be fused. We were still referred to Riley to check it out. In the mean time Lily began first steps with Occupational therapy, speech therapy and a psychologist to help her with auditory processing and the issues involved with that. She remains a interesting case as she has very well developed expressive language and good reasoning and problem solving despite having a fairly severe difficulty understanding spoken language.
Leah was becoming a concern as she too had developed a ridge; this time at the age of 6 months. Unlike the other two Leah appeared to have a normal skull in all regards at birth and in the early months. She was scanned the week following Lily and was also found to be fused. This was a bit more unusual at her age.
So we waited the agonizing nearly 6 weeks wait to get into a neurosurgeon at Riley to find out if both of our beautiful girls would need a fairly nasty surgery.
We did sneak in a first opinion from the neurosurgeon that initially had seen Lily at 3 months. He stated that both girls despite the ridge were completely normal and no surgery was needed in either case. We were completely okay with that despite the unusual appearance of their foreheads- no surgery sounded good.
We did get worked in a bit early at Riley and met regarding Leah first. The decided to wait and see how she grew into her bones a bit. It made good sense to me.
When Lily went in for her evaluation we were fully expecting them to tell us to grow bangs and forget about it. That was not the case. Although her brain appears normal there are some neurologic concerns. As she grows she may have headaches from the unusual cavity for the brain as it grows. Although unlikely, she may develop intercranial pressure which can be very serious. Or she may just be a cutie pie with a bump on her forehead. They classified her as moderate and recommended surgery. The surgery is called a reconstructive craniectomy. She is currently scheduled to have that done November 26th which is the day before Thanksgiving. Leah has a follow up appointment in February and they are expecting to again recommend surgery.
When Lily was 24 months we changed pediatricians and I took Lily in for a checkup due to concerns regarding her having difficulty with following directions - also known as auditory comprehension. They noted the ridge down her forehead and referred us for another CT scan which showed that the suture was indeed fused. At first we were upset until we (and they) realized at this age it should be fused. We were still referred to Riley to check it out. In the mean time Lily began first steps with Occupational therapy, speech therapy and a psychologist to help her with auditory processing and the issues involved with that. She remains a interesting case as she has very well developed expressive language and good reasoning and problem solving despite having a fairly severe difficulty understanding spoken language.
Leah was becoming a concern as she too had developed a ridge; this time at the age of 6 months. Unlike the other two Leah appeared to have a normal skull in all regards at birth and in the early months. She was scanned the week following Lily and was also found to be fused. This was a bit more unusual at her age.
So we waited the agonizing nearly 6 weeks wait to get into a neurosurgeon at Riley to find out if both of our beautiful girls would need a fairly nasty surgery.
We did sneak in a first opinion from the neurosurgeon that initially had seen Lily at 3 months. He stated that both girls despite the ridge were completely normal and no surgery was needed in either case. We were completely okay with that despite the unusual appearance of their foreheads- no surgery sounded good.
We did get worked in a bit early at Riley and met regarding Leah first. The decided to wait and see how she grew into her bones a bit. It made good sense to me.
When Lily went in for her evaluation we were fully expecting them to tell us to grow bangs and forget about it. That was not the case. Although her brain appears normal there are some neurologic concerns. As she grows she may have headaches from the unusual cavity for the brain as it grows. Although unlikely, she may develop intercranial pressure which can be very serious. Or she may just be a cutie pie with a bump on her forehead. They classified her as moderate and recommended surgery. The surgery is called a reconstructive craniectomy. She is currently scheduled to have that done November 26th which is the day before Thanksgiving. Leah has a follow up appointment in February and they are expecting to again recommend surgery.
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