Rare Genes: Cerebellar Hypoplasia

The last day of February is Rare Genes or Diseases Day, usually that's the 28th but 29th on Leap Year, so today we are supporting the cause Wear That You Care by wearing jeans to spread awareness about rare genes. Around our part of the world no one notices if you are wearing jeans, we're pretty casual here on the West Coast.  If I were better organized I'd have bought a pin that says "Cerebellar Hypoplasia" for each of us to wear, but the truth is Cerebellar Hypoplasia is so rare that I don't think they have pins for it.

I had a normal pregnancy but toward the end I was carrying rather large. Concerned I was having a large baby after 2 big(ish) babies and difficult deliveries my OB sent me in for an ultrasound. I was 8 months pregnant when I received the shock of my life. The imaging showed that our baby had something wrong with the shape of it's head (we didn't yet know if she was a boy or girl). Welcome to the world of rare diseases, a world I previously had the luxury of knowing nothing about.  All my life I'd believed that birth defects are the rare exception and "healthy babies" are the norm.  We tend not to talk about it and when it happens we are shocked. When we start talking about it you realize it's a lot more common than we realize.

When it does happen we understandably look for answers. Sometimes there are answers but sometimes questions just lead to more questions, as I would find out. Ainsley, at that ultrasound, appeared to have what is called craniosynostosis a condition we would discover is both rare but not terribly uncommon depending on your perspective (we started hearing stories of kids with craniosynostosis from all kinds of people after Ainsley was diagnosed with it) There are a number of syndromes that include craniosynostosis but it can also be "isolated" (appear alone as the only condition). And so we proceeded with an amniocentesis hoping for more information. The results showed a Balanced Chromosome Translocation. People think that it is rare but it's really not except that Ainsley's particular translocation hasn't been seen (that doesn't really mean anything either). Steve and I had our blood drawn to see if either of us had it, since Balanced Chromosome Translocations can exist without our knowledge with no symptoms what so ever. Neither of us had it, and so it was pronounced that Ainsley's translocation was "denovo" (new). The karyotype is 46,XXp(1;7) (p22;q31.2).

Reciprocal translocations are usually an exchange of material between nonhomologous chromosomes. Estimates of incidence range from about 1 in 500 ^[1] to 1 in 625 human newborns.^[2] Such translocations are usually harmless and may be found through prenatal diagnosis. However, carriers of balanced reciprocal translocations have increased risks of creating gametes with unbalanced chromosome translocations, leading to miscarriages or children with abnormalities. Genetic counseling and genetic testing are often offered to families that may carry a translocation. Most balanced translocation carriers are healthy and do not have any symptoms. But about 6% of them have a range of symptoms that may include autism, intellectual disability, or congenital anomalies. A gene disrupted or disregulated at the breakpoint of the translocation carrier is likely the cause of these symptoms.

So 8 months pregnant we thought we had a 6% chance of a birth defect and we already knew she had craniosynostosis. We learned all about the syndromes craniosynostosis could be a part of.  It was devastating. Having two healthy typical developing children I admit I thought "it couldn't happen to me." I held discriminatory beliefs that these type of things happened to different types of people than me. Birth defects occur across all socio-economic levels, to parents of all education levels, and is not an indication of drug or alcohol use or advanced maternal age. These factors can increase risk but often are not the sole cause. The truth is that birth defects can happen to anyone, but we don't talk about it because it's scary. Honestly though, I don't think there is any way to prepare for this. It's like getting in a car crash. We know it happens but always think it won't happen to us even though it happens to people of all types every day. Perhaps it's how we protect ourselves from fear. When it does happen we analyze and re-analyze any possibility that could have caused or prevented it.

The doctors couldn't make a diagnosis in utero. We were nervous but looked forward to the day Ainsley was born for the normal reasons but also thinking we would finally know what we were dealing with. Due to the insane amount of amniotic fluid I was told I would go into labor any day. That didn't happen so I was induced at full term. When Ainsley was born we were shocked to find out that she had stridor (noisy breathing) and she was quickly sent up to the NICU for breathing support. That would begin the search for a diagnosis about her airway. We thought it would be temporary and were devastated when the doctors were unable to diagnose the specific cause or treat it. She was transferred to Children's Hospital.

I was recovering from a vaginal birth to c-section (I spent 1 1/2 hours standing and pushing with no epidural before surgery) and Steve and I shared a cot in the parent rooms at the NICU. It was truly horrible. We were in shock and having to absorb a lot of new information very quickly.  She was put on a feeding tube (I knew nothing about them) and there was talk about a trach. (She was trached at 5 weeks and we would spend years searching for answers and solutions, traveling across the country twice to see specialists.)  Each day she saw more and more specialists. I noticed that she hadn't opened her eyes and was very concerned. Enter the head of ophthalmology, later a diagnosis of eyelid ptosis (fancy name for droopy eyelids, several surgeries followed). They sent in an orthopedist to inspect her and found hip dysplasia and began treatment in a Pavlik harness (she would later require surgery twice). My poor girl couldn't catch a break. Ainsley's craniosynostosis was pretty severe, likely the sutures fused early in the pregnancy and her forehead became misshapen (not just her skull) as her brain grew. The cranio-facial surgeon wanted CT scans to prepare for the first surgery that she would need when she was 3 months old. She was 3 days old when we learned by accident due to the scans that she also had a condition called Cerebellar Hypoplasia, so they brought in more specialists, a geneticist who wanted to enroll Ainsley in a research study (where her genes were analyzed) as well as his research partner, a top neurologist specializing in the field of hind brain malformations.

What was not reassuring during this period is that we saw the doctors Googling Ainsley's combination of conditions trying to determine if there was anything in any obscure medical journal about the combination of her various conditions occurring with other patients, in other words a syndrome. There wasn't. Cerebellar Hypoplasia can often occur with a rare syndrome called Dandy-Walker Syndrome. Sometimes CH will be characterized as Dandy-Walker Variant or Dandy-Walker Malformation. But none of these were quite like the appearance of Ainsley's brain. The CH is the most important of Ainsley's conditions. I searched out information about her condition on the Internet, finding more about Cerebellar Hypoplasia in cats (it occurs often in cats) than humans.

The doctors kept repeating something that drove me crazy, "Ainsley will teach us about herself." This is doctor speak for we have no freakin' clue.  We moved on with our lives dealing as best we could with rather extreme circumstances, all while having a 5 and 3 year old.  I combed the Internet searching for information, hoping that there might be another parent out there with a child with Ainsley's combination of "rare conditions" who might give me some insight of what to expect or even hope for treatment.

Would my child be able to walk? to talk? to eat? live an independent life? live a normal life expectancy? How long would she need the trach and feeding tube? No one could tell me for sure. We were connected with services and started receiving in home therapy when Ainsley was just 4 months old. I learned from these therapists and then spent countless hours teaching things that come naturally to other children: holding a toy, tummy time, rolling over, sitting, crawling, standing, pointing, turning pages of a book, pinching (fine motor strengthening to prepare for handwriting), eating, making sounds, sign language, PECS, AAC all on top of the medical needs (suctioning, tube-feeding etc), surgeries and normal needs of any child. Because she and the other two kids had those too. Those were dark times as I dealt with the feelings of grief over losing all semblance of a normal life.

During those early years I reached out to on-line support groups, for parents of children with tracheostomies and Cerebellar Hypoplasia. I felt comfort in knowing other parents were dealing with the same very difficult issues. I spent a lot of time looking up the conditions that were mentioned hoping that maybe it would help me figure out what was going on with Ainsley. Maybe find answers or a cure, or treatment. What I learned is that there are many many thousands of kids out there with thousands of different types of conditions. Some find the cause of the condition(s) and some don't.  Sometimes the conditions have been seen together before and so doctors have given it a convenient "syndrome" name that may help shed light on what we can expect by grouping these individuals together. I thought it would be easier if Ainsley had a syndrome so I might know what to expect. But then I also saw that kids with the same syndrome or diagnosis often vary in the ways they are affected and may not have some of the markers that are often seen with the syndrome or diagnosis.

In addition to Dr. Dan Doherty, the expert Ainsley had seen several times since birth we consulted with one of the top experts in hind brain malformations who relocated to Seattle a few years ago, Dr. William Dobyns. Ainsley's CH looks kind of like Ponto-Cerebellar Hypoplasia but for a variety of reasons isn't typical of PCH either. In light of Rare Diseases Day I thought I would share what his report says, below. Since then we befriended Dr. Andrea Poretti, a colleague of Dr. Doherty, another expert on CH who is active in our CH group.  He kindly reviewed her scan and agreed with the Dr. D's. These men have seen thousands of brain scans.  All agreed that Ainsley didn't neatly fit CH or PCH.

The gyral pattern was distorted by her skull shape, but otherwise appeared normal. I also thought her hippocampi, basal ganglia, thalamus and white matter appeared normal. Her third and lateral ventricles and corpus callosum also appeared normal. I saw mildly thin brainstem indicating hypoplasia of all 3 segments. The cerebellum was diffusely moderately small, with a striking up-rotated vermis and probably foliar dysplasia. The vermis was actually less severely affected than the cerebellar hemispheres. However, there was clearly no progression of the atrophy on serial MRI scans. This has previously been described as Dandy-Walker malformation; however, the preservation of the vermis in comparison to the hemispheres and a small posterior fossa size are both inconsistent with DWM. This has been compared to Pontocerebellar Hypoplasia or PCH, because of the relatively preserved vermis. However no progression was seen, so this also differs. Thus I believe it is best described as diffuse cerebellar hypoplasia with foliar dysplasia.

The label used for Ainsley's brain/cerebellum condition has changed several times over the years, above you see it described as Diffuse Cerebellar Hypoplasia with Foliar Dysplasia. I decided it is simplest to call it Cerebellar Hypoplasia. A lot of doctors aren't even familiar with Cerebellar Hypoplasia in it's simpler forms. Ainsley is rare among the rare. When you factor in her other conditions she is truly one of a kind.

I think there can be comfort in having a well understood condition. However, I've also come to the conclusion that it's not so bad to be rare, even if it sometimes feels isolating. Without a guidepost Ainsley can make her own path in life. We know it won't be easy but we keep inching onward, one inchstone at a time. We don't know how far she will get but we will try to enjoy the ride on the way to our destination. The doctors were right. Ainsley is teaching us about Ainsley. And really when you group all the people with rare diseases or rare genes together, it's really not so rare at all. Together we spread awareness, together we are not alone.

Craniofacial & Eyelid Update

Last week we had two important appointments with the craniofacial clinic and the occuloplastics surgeon. I've been wanting to blog but we had another round of illness hit our family (with all 3 kids missing school at various times), and I have been taking photos for Evie's school as well as adjusting to a new nurse (to replace the one who was fired in February for hitting her Ainsley in the classroom in front of a teacher and students) as well as dealing with important issues that have come up with the school . Unfortunately (or fortunately) I am not compelled to stay up late blogging like I used to. I function better when I get decent sleep.

Ainsley has had a bump on top back part of her skull, almost like a goose egg from a fall, except it isn't. She also has a depression at her left temple. Both areas have gotten worse as she's gotten older, especially in the past few months. This wasn't the first time I'd mentioned them to the surgeon. I've been concerned and was really half expecting that she would need surgery. Thankfully she doesn't. I found out that any minor bumps are unlikely to cause pressure or trauma to the brain (the brain is squishable like jello, it takes more than a small irregularity to cause a problem), and are likely irregular bone growth due to the fact that Ainsley's skull was cut apart and pieced back together like a jigsaw puzzle when she was a baby. The bone is all in different places than it was and likely the irregularity is caused by that.  Really it's amazing she looks as good as she does when you see the imaging.

They told us it is important to have her eyes dilated yearly to check for papilledema, or pressure on the eyes from the brain being under pressure. Good to know. Thankfully the ophthalmologist did that in January and her pressures were good. While I was there I discussed Ainsley's eye appearance and he could see my concern about the pinching in the corner of her left eye. We've been seeing more discharge from that eye for awhile, and the usual fix, tweezing out the inwardly rotated eyelash, didn't help.  I mentioned it again at the craniofacial appointment and it was agreed something should be done so we saw the occuloplastic surgeon. He agreed to do surgery to the left eye.

Then Tuesday night I found a large quantity of discharge that seemed to out come from behind her eyeball. I've never seen anything like it, ever. The next day it appeared she was far more able to open her eye. I have no idea for sure what was going on but suspect there must have been a foreign object in there for quite some time. It is hard to see because the opening of her eyes was made overly small during surgery (her palprebal fissure was shortened). None of the doctors fully looked inside her eye despite my report of unusual discharge, I presume because of how difficult it is to pry them open. Now I am concerned that the surgery we have planned may "over-do" things and I feel like it would be smart to go back to the surgeon to give him the opportunity to see her again before planning the surgery. I tried to write an e-mail to both surgeons and ended up spending several hours watching videos about the structure of the skull and looking at her imaging. I had no idea the skull was so complex. It left me feeling overwhelmed with even more questions. I learned that the sphenoid bone connects to the nasal cavity, and that makes me wonder if perhaps that may contribute to Ainsley's breathing difficulties since there was an abnormality of her sphenoid bone.  I decided to wait, and finish this blog post and the e-mail over the weekend. Sometimes you just have to preserve your state of mind.

Ainsley was said to be born with absence of the greater sphenoid wing bone (in her skull, but not the entire bone, just part of it) which was found when they took the MRI's to prepare for the cranial surgery. Absense of the greater wing of the sphenoid is extremely rare. However, by the time she was ready to have her second craniofacial surgery the bone had started to grow. In hindsight I believe that the sagittal craniosynostosis caused the sphenoid fontanelle to be larger than normal, just like it did the anterior fontanelle.  As you can see in the imaging below, a few months following her first surgery to open the sagittal suture all the fontanelles look quite a lot smaller. During the second craniofacial surgery bone was placed behind her eyes to keep her eyes from touching the dura around her brain. After this surgery her eyes appeared slanted and were very closed. This is likely due to the fact that bone was moved and her skin had been covering a skull that was differently shaped. Even though Ainsley' eyelid tissue was insufficient prior to surgery she was able to compensate and use her brow to fully open her eyes. After the surgery she was no longer able to.

 Sphenoid fontanelles and absence of the greater sphenoid wing.

 The sphenoid fontanelle after sphenoid growth. (Not surgically altered.)

My hope has always been that the surgeons could figure out a way to fix the results of that second craniofacial surgery. They have tried. She had brow prosthetics placed in Jan. 2010, a tarsal switch and canthopexy surgery in Dec. 2010, and a frontalis sling in Jun. 2012. The surgeries improved things some. Ainsley can function better, but her appearance is still not normal. I believe that if her eyes appeared now as they did when she was born, people would have a different impression of Ainsley and treat her differently.

In January when I was at Jack's funeral I was talking with another mom. Her son has had 30 craniofacial surgeries and was trached as well.  When I told her my child had sagittal craniosynostosis and showed her a picture she asked if she'd had surgery yet. It was a heartbreaking realization, that even an experienced craniofacial mom who knows what it is to have a child who looks different (her son was born with a hole in his face) cannot see that her work is finished, and in fact thinks it hasn't even started. It isn't a matter of her being insensitive as the surgeon suggested when I told him. It is the reality of the results from her surgeries. They do say that she has some extra skin on her eyelids that can be removed, but not until she is 14. How do I know that will fix things? I don't. How do I know that the surgery they propose doing now, won't look funny after the skin is removed 7-10 years from now? I don't.

I think that one of the hardest things about being a parent of a medically complex special needs child is making decisions for which there are no easy answers. You have to educate yourself and advocate for your child to get them the best care possible. I know many parents who have pushed doctors to perform surgery past what they were comfortable with (sometimes switching surgeons), and the outcome was exactly what their child needed.  But there is always the fear of making the wrong decision since there are no guarantees in surgery or medicine. The eyes are delicate and very important. They say the eyes are the windows to the soul. I just want to make it easier for people to see Ainsley's beauty like I do, and for her to be able to live the best life possible. That is what I always try to do. I will let you know if the surgery is going to happen or not as soon as we know.

Wonder and My Friend Christy

Having a medically complex kid with special needs is hard. Really hard. Almost everyone know a child with some special needs but few people know a child with many special needs and a tracheostomy.*

I tell people all the time how much support I've gained from the parents of the Tracheostomy.com forum over the years. Our kids have a huge range of abilities and conditions.  But through the forum I have found parents who I can relate to. I think there is great comfort in feeling understood. Especially when you are going through something that you think other people just can't understand. Even though it is true we all have difficulties in our lives it is comforting to find people who are going through something similar. Somehow it gives us strength, I think, to know we aren't the only ones facing whatever that difficult thing is.

That is why my friendship with my dear friend Christy means so much to me, even though we've never met face to face. She is AMAZING and so is her daughter HARLIE. She has been through SO MUCH. They are both fighters and live full rich lives despite the difficulties that Harlie's medical conditions cause. It happens that her daughter is also a craniofacial patient like Ainsley. Our children are very different but there are enough commonalities that Christy and I really understand what each other are going through as parents of these highly demanding children.

We read each others blogs and talk on the phone periodically. After a post she'd written about a biting remark a kid at school made regarding Harlie I recommended that she read the book Wonder by R.J. Palacio, which she did awhile ago. For parents of craiofacial kids this book stirs up some very difficult emotions. Her son recently started reading it too (It is highly recommended for grade schoolers. Both my kids have read it. But it is a great read for adults too.) and she posted a review of it on her blog today. I would love for you to read her post, click here to go to it.  In her post is a particularly poignant excerpt from the book. It relates to siblings. In recent blog posts I said this:

I feel like Evie and Adrian get shortchanged. (Sometimes I cry as I tuck them into bed when yet another day has gone by that I feel Ainsley got the bulk of my attention. Though it's just as big, if not bigger problem, that my husband works such long hours.) 

and:  

My greatest accomplishments and my greatest failings are all wrapped up in this thing called Motherhood.

I know those statements may sound dramatic but they speak the truth about how I feel as I try to keep things in balance for our family. Having a special sister like Ainsley is very demanding, even though we love her so much, and it is hard on the siblings. I think the excerpt quoted in Christy's post really explains it so well.

All humans want to feel that they "fit in". When your physical appearance is different that can be difficult to do. Many different people face this issue on different levels. Society impresses the idea on us that a certain physical ideal is most valuable. We all fall into this false trap because we want to be valued. Even those of us who are lucky enough to fit into the "normal" category of appearance still have things we hate about our own appearance. What a shame. The truth is that when you truly love someone their appearance is of little consequence.

Even if you don't know someone with a craniofacial condition, we all can relate to the desire to fit in. That is why I think this book is a good read for EVERYONE. My hope is that this book builds compassion toward people with craniofacial conditions and all people that look physically different. I hope you will read the book or at least read Christy's post.  Have a great rest of your week!

*P.S. I wanted to point out that in the book it is mentioned that the main character Augie had a tracheostomy when he was younger.

Nothing But Time

You know you've been at this special needs/medical complex kiddo thing too long when you no longer are annoyed beyond belief when you wait for 2 hours to see the doctor. Really though what's the point of getting upset? It wouldn't change anything other than making us more miserable. After its happened dozens of times you learn. So now we take it in good stride as "par for the course" as we play our favorite hospital game....."watch the clock".  Our appointment time: 12:45. Actual appointment time? 2:35.

Ainsley can be a rascal when she's overly tired, as the following pictures show. 

 Yes, she is drinking her lunch (while doing tricks). More about that another time.

 Getting bored (reallllly?!) she decided she wanted to crawl around the room. At the hospital this is ill-advised so we said no. So she then decided to get herself out of her stroller. I think that look says "Oh yeah?! Watch me."

 It's no easy effort for her.

And when she does stand the stroller and the suction machine go falling. We can't get that wheelchair soon enough. It's back from the shop but we are waiting on funding approval after their mistake of not getting the tie downs. Ridiculous is what it is. She is 42 pounds and 43.5" tall and far too big to ride in a Maclaren Volo. But hurray, she was able to get herself out by herself, another first!

She's so pleased with herself. And we are too. She's getting to be very independently minded.

Somehow she managed to stayed awake so the surgeon could see her eyes for the first time since the eyelid surgery.

Here you can kind of see that the hair of the brow is a bit lower than the actual brow bone (okay brow prosthetic). When she is relaxed and you lift the brow up a few millimeters it lines up nicely and her eyes appear more open.  You just have to love that smile, I just wish we could see her eyes when she smiles.

He didn't get the letter from the occuloplastic surgeon (it may be in his inbox) but is going to follow up with him to find out exactly what he has in mind because some styles of brow lifts (depending on how it's done/at what level) can make it harder to use the brow to lift the eyelid (not what we want). He wants to wait until it's been a year since her eyelid surgery so she is fully healed, so we are looking at December 2011 at the soonest but in the mean time they will discuss the best plan of action for her. They may determine that some other course of action would be better, such as a frontalis sling. Hopefully their plan will not involve waiting until she is a teenager.

Once again he said what an incredibly complex case Ainsley's is.  Though primarily she had sagittal craniosynostosis things were very much complicated by the absence of her greater sphenoid wings.  The fact that she has a weakness of the lid muscle in addition to the surgery that reshaped her forehead and replaced the sphenoid wings (It changed the shape of her eye orbits, her forehead shape, the position of the skin over the forehead, the position of the levator, the frontalis, the slant of her eyes as well as the possibility that there could be damage to the muscles from swelling.) makes it all rather difficult to sort out what the problem is and how to fix it, even for a highly experienced craniofacial surgeon and occuloplastic surgeon.  Luckily I had my handy photos with me to show him the progression again and he was able to see (among other things) that the brow implants that I'd suggested did in fact help her which goes to illustrate that what he would typical expect to see is not necessarily the case with Ainsley. A picture being worth a thousand words and all that I think it's always better for them to rely on images rather than their memory of how she's looked along the way.

As for her head shape: He said that unless she develops vomiting, headaches and other signs of intracranial pressure they would not operate.  So that's good. It is typical that the shape changes over time and wants to return to it's original shape and since her head size is almost mature it will most likely be okay. I was a bit concerned about the sudden change. So this was reassuring.

All this means that we will likely get through the summer without a surgery and that would be nice. I don't know about you but I am looking forward to summer!!!! Ainsley's last day of school is Friday. Evie & Adrian's is next Wednesday.  If only we could get some sun.

Ptosis Surgery Update

As I'm sure you've noticed, Ainlsey has droopy eyelids, a condition called ptosis, as well as a downward slant to her eyes. These conditions were present at birth but to a lesser degree and worsened after her second cranial reconstruction when she was 9 months old. In December we followed up with Ainsley's ophthalmologist (and surgeon.) For the details of that appointment see my prior blog post: http://ainsleyrae.blogspot.com/2008/12/eye-appointment-ptosis-follow-up.html A few weeks later we met with Ainsley's cranio-facial plastic surgeon. Unlike the eye doctor who was not sure, he thought there should be enough brow bone to anchor the frontalis sling to. However, when asked, he suggested a second opinion with another eye plastic surgeon that he works with on complex cases like Ainsley's.

We were fortunate that the second surgeon had a cancellation and we were able to get in to be seen today. This issue has been on my mind, especially after the recent follow-up appointments, so I was thankful to be able to meet with him in order to get clarity in my mind of how this was going to play out down the road. We were warned that he does a lot of plastics work and not to let that put us off. I admit after viewing his website http://www.allurecosmeticsurgery.com/aboutdrsires.html I was a bit concerned. The idea of taking my daughter to a surgeon whose specialty seems to be reversing the aging appearance of older ladies left me a bit uncomfortable. The fact that he was listed as one of the best doctors in America and the Seattle area helped ease my mind as I prepared myself mentally for this appointment. Since the appointment was made, we went, and I'm glad we did. He was knowledgeable, personable and professional. And he had a different idea of how to help Ainsley.








This surgeon suggested cutting the tarsus in half and re-using that tissue to "prop up" the corners of her lower lids along with canthopexies (tightening of the lateral canthal tendons) . He calls it a tarsal switch procedure. He thinks it is less likely to fail over time than the frontalis sling operation. The eye pretty much reaches mature size sometime between ages 3-4. So he said he could perform the surgery any time after her 3rd birthday. The other surgeon wanted to wait until she was 4-5 years of age (if there was enough bone, if not then later). I am pleased at the idea of doing the surgery sooner rather than later. However, the first surgeon cautioned against any surgeon who would be willing to operate sooner. I'm not sure where this leaves us. I do believe the first surgeon also mentioned surgery to the tarsus as a possibility depending on what muscle is there, but that was long ago, as he seems to believe the sling is the way to go. Perhaps we should discuss it with him although he did not want to see Ainsley for a year.

When the first surgeon saw Ainsley at birth and said he was not worried about her eyes, that he could make them look normal, I clung to that. Clearly it is not as easy as he made it sound. At least now it seems as though we will not have to wait to do surgery until potentially Ainsley had a brow prosthetic at age 8. That is a relief. That would have been just too long to wait. The second surgeon said her eyes may not look as "open" as ours even after the surgery. And since her eyes are somewhat wide set that her eyes will always have a slightly different appearance. Her eyes will probably not ever look completely normal. Of course the first surgeon would agree. I'm finally coming to realize that it would be best if I just expect that her eyes will never look "normal". No room for disappointment that way. Although I'd love to be proven wrong. Mostly I hope they can make enough of an improvement that she doesn't have to work so hard to lift her lids. That we can see her eyes more so we can read her emotions and comprehension more easily. And that strangers will stop commenting on how sleepy she looks when we are out and about. No matter what she will always be beautiful to me.

Craniofacial Appointment

We had follow-up appointments with the cranio-facial pediatrician as well as the cranio-facial plastic surgeon today. We started out the appointment with a fellow, she's a developmental pediatrician. This is an extra doctor we didn't schedule an appointment with. She took a fairly detailed medical history and spent a fair amount of time with us. But after answering all her questions I realized that that this was for her benefit and learning not ours. Her big tip was to suggest maybe we get Ainsley a stander. Which we had already tried 6 months earlier. Our physical therapist think she doesn't need one and I trust her completely. It occurred to me that perhaps it is because Ainsley is so medically complex that we always "get to " see extra doctors before we see the actual doctor we have the appointment with. Perhaps it is just how it works at a teaching hospital and every patient goes through this? But I also can't help but wonder if this is why they are always running late and why today the appointments take a total of 2 1/2 hours. Anyway...

So the cranio-ped can see how well she's doing and the numbers speak for themselves. She's 27 months old and 29lb and 37" tall. A massive weight gain since the Fundoplication. It's amazing what can happen when you can keep your food down. She had reviewed the notes from our last ENT appointment and said that since things are going so well with the PMV that the next step will be capping. Capping is when the trach is covered with a cap which forces the patient to breath through the nose and mouth instead of the trach. Sometimes capping can go very well right away and other times it can be more of a struggle to get used to and capping is done for increasing amounts of time depending on tolerance. Our otolaryngologist moved and we are going to see someone new on the 23rd. Thankfully he's very experienced so I feel okay about the change. In light of the fact that Ainsley's airway had opened up some only 3 weeks post Nissen we are hoping that we will see some good things at this appointment and maybe even come away with a cap. It's up to the otolaryngologist. Please be crossing your fingers for a good appointment for her.

I was most excited to meet with the cranio-facial plastic surgeon. He is really fabulous! I wanted to discuss the frontalis sling surgery to correct her ptosis. The otolaryngoloist wasn't sure if there is enough eyebrow bone to anchor the muscle to. I found out the surgery can be done to a prosthetic, in case there isn't enough bone, which is a relief. I've been very worried that we will have to wait until she gets eyebrow prosthetics at age 8. Too long to wait in my opinion. I really want to see her eyes again. He agreed. And gave me the name of another surgeon who he works with a lot on complex cases like Ainsley. So we'll be scheduling an appointment for a second opinion about how to proceed with her eye surgery(s). Ainsley has two small soft spots where bone did not fill in from the reconstruction. We laughed at how convenient that was of her because he could feel her brain and tell that it is not under pressure, a sign that her skull has not fixed since her cranial surgeries. Those soft spots may need to be filled in later on if they don't fill in on their own at about 9-10 yrs of age. He also said that her cheek bones are in line with the orbital rims and that indicates that her mid-face has been able to keep up growth with the forehead expansion. So this means that, so far, there is no need for a mid-face surgery. Although she does still have a bit of an under bite. This may be fixable with orthodontics or may require an upper jaw surgery. Only time will tell. I'm still hoping she'll just outgrow it. She has beautiful teeth and for now it's not a problem. He will keep monitoring Ainsley every year to see how she is doing or sooner if anything comes up.

Last we saw the dietitian. We've made a believer of her with our home-made blended formula. She was thrilled and said it made her day to have one of her kids growing so well.

Ainsley's First Haircut

Before the haircut. Just getting started.


Not so sure about this haircut thing.


After the haircut and a nap.

Ainsley got her first real haircut today. She's had her head completely shaved twice for cranial surgeries when she was 3 and 9 months old. The last time being 15 months ago. This is the first time I really cut her hair by choice. The first two times I cut a curl off to save and let the surgery team do the rest. People often say she has a lot of hair. I can only imagine how long it would have been.

The catalyst for the cut was that about a month ago we started seeing hair breaking off on the back of her head. Sadly it's now only about 3/4 of an inch long at the crown. We think she's been having her hair fussed over too much by a certain someone. So to solve the problem I gave her bangs so we don't have to put the hair up to get it out of her eyes. I've learned over the years that bangs are a no-no. They require a lot of maintenance. And they take FOREVER to grow out once you've grown tired of the constant trims. Evie still has some wispies in the front from when she had bangs when she was 4. I told myself I'd never do it again but here I am doing it anyway. It's better than her going bald, right? Remind me of that when she needs a trim every few weeks.

Ainsley Recovering Eyes Finally Open A Crack

Thanks for your e-mails and calls. I just wanted to let you know the most recent news. Ainsley seems to be in less pain and generally a bit happier. I think the swelling is pretty well gone. It’s hard to tell how much is just the new shape of her head. Her famous smile is back. Today I even saw her laugh. It’s so great to see her personality come back. She’s still a bit clingy more so than when she went into the hospital. My hope is that it will lessen some when she is better able to open her eyes. It’s hard to see her this way. But it has improved a bit each day. Now she can open them a crack, enough to see when she wants to. It seems to take a bit of effort so she still spends a lot of the day with her eyes closed. She’s also sleeping a lot which I’m sure will help her heal. On the nursing front, things turned around and the agency was able to find a day nurse to fill in some days. She won’t be here every day even though the insurance authorized it. That’s just how it goes when there is a nursing shortage. We have 2 more days scheduled. Her future availability is not confirmed but I’m thrilled to have any help and hope they’ll call to give us more days next week. Today was her first day and she’s great. Very nice and competent. Surprisingly she happened to need a trach herself for pneumonia last year. My hope is that I can now spend some time focused just on the other kids and that we might finally get out of the house and do something fun before the summer is over. So far it looks like the highlight of the summer for the kids was camping in the tent in the backyard with Steve while Ainsley and I were in the hospital. It feels like it’s going to be back to school any day. You know how the days fly.

We're Home!

I just realized we should have sent another update. We were discharged last night and arrived home at about 7:00. Ainsley is doing okay. The swelling has gone down a lot. She’s starting to try to open her eyes but is having a difficult time. Perhaps due to swelling. Perhaps because it feels different since she now has more bone above her eyelids. We are keeping her medicated which is keeping the pain under control. Now that we’re back home I’m having to start right in dealing with the insurance problems about our in home nursing. It’s prevented the nursing agency from getting paid and if it doesn’t get resolved we’ll lose our nursing completely. As you all know we’ve been house bound all summer. The kids could use some fun so if you have time to take them during the day or an evening please let us know.

Cranial Reconstruction Today

Ainsley had her surgery today and thankfully everything went well. There were no complications and she’s now recovering in the surgical ward. The procedure was apparently complex and took longer than expected, almost 7 hours, but Ainsley did great throughout. She is sedated but appears to be very comfortable at the moment.

Her appearance is pretty remarkable. Her forehead, brow and temple area have been completely reshaped and her head is now very round with a prominent brow area. The boxy forehead is now really smoothed out and her head at the sides is much wider where it was previously indented. She has significant swelling which will peak sometime tomorrow but otherwise she looks very good. The doctors had images from the post-op CT-Scan and needless to say, the work they do is simply mind-boggling. Even knowing what to expect it’s still amazing to see how they piece all the bones together to create a new shape.

Susan is staying at the hospital throughout the night while I take care of Evie and Adrian. I’ll be heading back over tomorrow morning for a visit, but we don’t expect Ainsley to do much for at least another day. She’ll probably be in the hospital for at least 4 days but probably longer while they monitor her. We’ll send another update out as soon as we have more news.

Thanks!

Steve

Craniectomy and Reconstruction

Ainsley’s surgery went really well. We took her in at 6:15am yesterday. She was prepped for surgery. Then they took a look in her throat with a scope to check that upper airway. We haven’t had a chance to meet with the doc about her findings because she (the doc) was in surgery all day until after we left the hospital. Afterward they did the craniotomy and finished in the afternoon. Then it took awhile to get her settled into her room and give her medication. When we left at about 6:45pm to get the kids she was doing well and was pretty sedated. The shape of her head is pretty dramatically different. It’s incredible what they can do so quickly. This surgery rounded out the back of her head. Even her forehead and face look different to me. Somehow the correction in the back still affected the front slightly. It’s odd to see your child’s face change in a matter of hours. It’s not bad or anything. It’ll just take a little time to get used to it. Probably to anyone but a mother it will not be noticeable. She will have another surgery in 6-8 months for the forehead and eye area. We are back to juggling our schedules to visit the hospital. I’d forgotten what a pain that is. She’ll be in the PICU for another day or so then will move to the surgery floor and stay for another few days. Probably she’ll be home by the weekend. So at least she shouldn’t be there for too long this time. After the surgery they did a CAT scan and we have a picture so if we see you, you can see what they did to the skull to make the change. It’s really incredible. It’s amazing what ordinary men can do. (or extraordinary ones). Hope to see you all soon.

Edited: In fact her face only looked different because the swelling had already set in.