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.

The End of an Era, or Is it?

For nine, going on 10 years we have had oxygen in our home. I still remember when Ainsley came home from the hospital in December 2006 and they told us they wanted us to bring home oxygen (and a whole ton of other stuff). They gave us a poster for the door so that everyone knew not to smoke in our home, and avoid flames of all kinds.  Of course I'd seen trucks driving down the freeway filled with oxygen tanks and warning signs all over. I was terrified to have this stuff in my home. Could we safely light our gas range? Have a fire? Burn a candle? What if our house caught on fire, would it explode? (The warning was supposed to be there for firefighters too.)

And Ainsley rarely needed it.  They wanted us to have it "in case". If it weren't somewhat dangerous I wouldn't have minded so much. For the first year I carried it with me afraid there would be a moment when we needed it to save her life. That never happened.  Eventually I found a tracheostomy support group on-line and I lurked silently gaining information about this crazy new world we'd been thrust into. Eventually I worked up the courage to post. It seems crazy to me now but my heart pounded as I typed and hit send those first times. The women there (sorry guys, but there were only a few of you) seemed so incredibly knowledgeable and they scared the shit out of me. But I quickly picked up on the fact that I would learn more from them than the countless doctors nurses and specialists we saw. 

One things I learned is that there are serious inequities in the medical system. That while we had oxygen and didn't really need it that there were people with serious needs for oxygen who had trouble getting coverage for it. Christamae was a courageous young woman with muscular dystrophy who was on a ventilator most of the time and confined to a power chair because of her limited ability to move. And she had trouble getting her oxygen. How could this be? And yet it was so easy for us? It was simply an insurance issue and I learned one of the discrepancies in the standard of care that varies across the United States. I learned there were a lot of such things. It made me angry. And in the case of oxygen it made me feel guilty for having something that we didn't really use.

What you might not know is that decisions like this aren't always up to the parent and are kind of automatic.  In the case of oxygen if a doctor writes orders and the medical supplier supplies it then you need to get the doctor to write orders again for its removal before they will take it away. Doctors don't want to get sued, so they can be reluctant. It takes knowledge and advocacy to make it happen. After awhile I felt I knew my daughter well enough that I was able to find the courage to go places without that oxygen tank in the stroller, but I always had it in the trunk of the car. I was always concerned what would happen to my other kids if we were ever rear ended. Thankfully that never happened, but as soon as I felt safe I removed it from our car.

In the early years (pre-fundoplication) Ainsley's airway was literally swollen shut from reflux (and likely other contributing factors).  It was an incredibly dangerous situation. I'm not sure that I've ever shared this photo from one of her scopes but you can see there is no breathing through this airway. If her trach came out (which it could easily do) she would gasp for breath and could actually die.  We watched her like a hawk never taking our eyes off her (driving was quite problematic particularly when she was an infant requiring a rear facing seat). It was stressful to say the least.

Life became less scary once her airway opened up enough that there was some space.  We still didn't know exactly the reason that she needed the trach, but with the support of other parents we learned to take some chances. Eventually experience taught us that we could use a resuscitation bag (which we also always had with us in the car) if the trach came out until an ambulance showed up with oxygen plus we'd seen that she almost never needed oxygen, only if she became sick, and then only when she slept.  After some convincing we were able to get oxygen out of our house for awhile. I'm all for eliminating unnecessary medical costs in every way possible.

Then when Ainsley got her trach removed in July 2014 we were sent home again with oxygen. She was actually more likely to need it then than when she was trached but again we needed the experience of seeing that she was safe.  Her trach stoma was surgically closed in July 2015 and again we were concerned about how she would handle the change to her airway, so it was logical to have oxygen "just in case". It's been 6 months and after making it through most of cold and flu season this year I was feeling pretty sure she wasn't going to need it so I started the process to get it removed from the home. It took a few months of following up repeatedly (that's just how things are) and they picked it up last Friday.

Of course that is also when I started to feel sick and so I've been avoiding Ainsley so she isn't exposed, a little terrified that just as they pick up the oxygen she'll get sick and need it, because wouldn't that just be like "life" for things to go that way?!  I've been in bed for days and Steve has stepped up to take care of things around the house and I'm starting to get better and I think she's not going to catch it, but it just reminds me that this will never be over. We have good reason to be worried about Ainsley's airway. She still struggles when she cries or laughs. Playing too hard gets her out of breath. It is awful that having fun and playing or even just walking leads to concern about getting enough oxygen.  And of course there is the fact that she can't sleep without the breathing support of CPAP (actually APAP in her case) and I worry that unless we keep her on pulse-oximeter monitoring at night that she could die while she is sleeping if she fails to wake up if she's having trouble breathing. It's happened, our pulmonologist has warned us he has low tone patients die in their sleep every year.

I wonder when did having a flammable explosive gas in my home become "no big deal"? When did I change into the person who feels confident they know more about their daughters medical condition than her doctors, and therefore knows better whether or not she needs oxygen than they do? Although we are happy that Ainsley got her trach out and is managing okay without it there has been a part of me that understood that this will never be over. I've held onto her trach and g-tube supplies for that reason, I know that there is a chance that either one could need to be put back in. All it would take is one bad illness. Still I push forward. I am choosing to optimistically removing oxygen from our home and soon I will be packing up her old medical supplies and equipment. I have enough to supply a small 3rd world medical clinic. It will be nice to make space in our home but it will also be symbolic of the hope but not certainty that we have, 6 months post stoma-closure surgery, that this decannulation is permanent. 

I want to conclude for my friends who have kids with trachs who dream of a day when they too can "leave it all behind" and for friends and family who view our lives up close or from a distance that while getting the trach out is great, for most airway patients it does not mean that our life is now magically like everyone else's. And I will never forget what trach life is like. It will forever be part of us. As parents of newly trached children we all believe for awhile, that the trach is the enemy, and life will be "normal" when it's out. I wish I'd understood from the beginning that it's not that simple. I'm still learning it: nights that I listen to Ainsley breathe heavily, nights that Steve or I jump up out of bed to check on an alarm or reposition her mask, when she starts to get sick and I fear how badly it will affect her breathing, times that she gets hurt and cries and struggles to breathe, something that happens often. These are things that still affect us every day and probably always will. Only time will really tell. Still, I'm thrilled as can be to get that oxygen out of my house!

When Crutches Are a Good Thing

One of the biggest challenges for children with Cerebellar Hypoplasia is learning to walk. There are several reasons for this.

1. Balance- Because of the undersized cerebellum their balance is compromised. It's harder to walk if you don't have good balance. This is why drunk people and the elderly often fall. This is pretty obvious, but I think for people with CH it is a permanent condition that they learn to compensate for. 
2. Coordination/Control- Walking takes coordination. Children with CH have a harder time controlling their body, much like people with Cerebral Palsy, the degree to which they are affected varies.
3. Motor planning- Motor planning is an important piece of walking, and walking safely. A person needs to be able to plan the required movements to go from A to B and react quickly to unexpected changes in the environment. This can be harder for children with CH and is a particular challenge for Ainsley. 
4. Tone/Strength- Children with CH typically have some degree of low muscle tone* which delays the acquisition of skills such as walking, running, jumping etc. which in turn reduces strength because they tend to get less exercise naturally in their day-to-day activities as neuro-typical children. 

*The low muscle tone associated with hypotonia must not be confused with low muscle strength or the definition commonly used in body building. Neurologic muscle tone is a manifestation of periodic action potentials from motor neurons. As it is an intrinsic property of the nervous system, it cannot be changed through voluntary control, exercise, or diet. From Wikipedia

Unfortunately for Ainsley in addition to CH she had Bilateral Hip Dysplasia at birth(probably due to excess amniotic fluid, due to difficulty swallowing due to CH). She spent a lot of time in a Spica Cast when she was one but the treatment wasn't successful and it had to be done again when she was 3 but the second time with bilateral femoral osteotomies (they sawed her leg bones in half and reattached them with bolts and screws to get the head of the femur into her hip sockets better) and then put her in a spica cast, followed by a brace, again. It seems rather extreme but the orthopedic surgeon felt it was necessary (to avoid painful arthritis as she got older and give her stability in her hips for walking, what can I say we were optimistic then, she seemed so close). Thankfully the surgery and treatment was successful, she now has good hips that have remained stable with growth (she gets x-rays annually to check for relapse but after several years she looks good). Not only did she lose muscle during those periods of treatment, she also lost progress and had to start over, not once but twice. It's not the entire problem, just one of many factors as to why she isn't walking independently, yet.

I say yet because I think I have good cause to believe that she will in her own time. Many other children with CH have learned to walk at a younger age. Always with more effort than for neuro-typical children, but sometimes as young as age 2.  Like individuals with Cerebral Palsy, it cannot always be known whether the person will be able to walk independently until they have done it. Some adults with CP will, some will need crutches, some walkers, some wheelchairs. In my on-line CH support group I have heard stories of kids taking their first independent steps as teens.  Emotionally I am prepared for the possibility that it may not happen for her, but it won't stop me from continuing to try. She will be okay either way, but I want it for her.

Ainsley is very quick in her walker and has been using one since age 3, transitioning to full time use at school after her decannulation in 2014. However, after years it seemed clear to me that success in a walker alone doesn't help a child progress to independent walking.  They have to learn to let go of the support they've learned to rely on. As Ainsley grew taller and bigger falls got riskier and for several years now I've felt that fear was a major obstacle we would have to work on. She is afraid to even try to take steps unassisted. I've been asking the physical therapists (the school PT and the one we consult with at Children's) for ways to help her get over her fear and even teach her how to fall safely. That hasn't happened yet, so if you know a therapist in the Seattle area who works to teach kids how to fall safely, please e-mail me.

We built a stander last summer using PVC and particle board (I designed, Steve built) so Ainsley has a safe place to practice a lot of independent standing while having a table surface to play and work at.  That has been helpful but I see she still loses her balance. It isn't the entire solution, just one tool to help. Since Ainsley is highly motivated to watch videos it is a good way to get her to spend a longer period of time on her feet. She knows that she has to stand if she wants to watch, not all the time, but as much as I think she can handle.

The school therapist starting working on using forearm crutches in her PT sessions last year.  They require more balance and control than a walker and are the logical next step in the progression toward independent walking for Ainsley. This November she was still pretty fearful and unstable, but the school started using them at other times during the school day and her confidence and stability improved with the increased practice.  In January I made an appointment to go observe at the school and was surprised to see the amount of progress she made in a couple months.  Check out this video from November, if you want to see just how much.  I was relieved to see that she feels more confident and to confirm that the school will continue to have the aide or therapist right behind her to catch her with the gait belt if she starts to fall. It is a real concern until her form improves. You can see in the photo below that the manufacturer shows the proper technique on top.

Right now she isn't using them properly, she looks just like the picture on the bottom of what not to do and in addition she is placing the crutches too far forward not just out to the sides), but with some work on it at school and at home I am hoping she'll get there soon enough. She will continue to use a walker for long periods, when speed is a factor or on uneven terrain. I expect it will be a long process of learning, much like we've experienced in other areas of her development.

Last Monday I ordered a pair of forearm crutches from WalkEasy, in yellow, her favorite color so we can start the process of working with them at home. I was delighted when they rush shipped them to me at no extra charge, showing up Thursday. What awesome customer service! Friday morning we tried having her walk out to the bus and she was able to show them off. Afterward she said she prefers using the walker to go out to the bus so I think we need to work on it a bit more before we make this a permanent change. It's easy to get hasty in our excitement but hopefully she'll be ready soon. Enjoy the video.

Do I Make It Look Easy?

It's not. And if you answered yes, I'm sorry. Really.

We all do the best we can for our kids. Parenting requires a lot of our energy. I don't know many parents who say it is easy being a parent and even less parents of children with special needs or who are medically complex (or both) who say it is easy.

A few months ago a friend I met in an on-line support group for one of my daughter's conditions told me I make it look easy.  I'll say it again. It isn't.  And I'm sorry if any of you ever wondered why it wasn't "so easy" for you as I may have made it appear to be for me on the blog.

It is fantastic to have the support of other parents going through the trenches. We look to each other to feel a sense of belonging and understanding because being the parent of a special child can be isolating. Sometimes we feel like the world just doesn't understand all the additional pressures and concerns we have on top of regular life. The risk of social media is that we see the best part of people's lives and not the hard or ugly parts.

I am pretty good at taking pictures and combining those with words to tell a story (if I do say so myself). I've tried to write about the difficulties I experience as a parent but I think that in contrast to pictures and the good times it probably has seemed insincere or insignificant. Truly, I could take pictures and write about anyone's life and portray it as wonderful because there are wonderful parts in everyone's life as well as real true struggles.

The truth is that I feel overwhelmed a lot by the task of raising Ainsley in the way that I know she needs and deserves. I find it challenging to maintain balance between her needs and those of my other two wonderful children. Other times I just don't know what to do for her and I feel lost and confused.  It has been difficult on my marriage and I have sacrificed a great degree of my own sense of self. This isn't healthy and it makes it hard for me to be the kind of person I want to be. I'm trying to be better about being honest with myself and making my own needs a priority. Sometimes I do crazy things that aren't a great use of time, like throw a big party or start a decorating project that I don't have time for. I think we all misuse our time sometimes, just in different ways.  Sometimes I even think blogging is not the best use of my time but then I will get a message from someone who says they've been reading and Ainsley's story has given them hope for their child. That is why I continue to blog. I no longer stay up late in the wee hours of the night to write like I used. I have to protect my health, both physical and emotional for the long haul.

In the future I plan to write more about what we are doing with Ainsley because she is the reason this blog exists. There are always so many things going on with her that I never seem to get around to blogging about, like her AAC system (which I'd planned to review since we got it in 2012), therapies or skills we're working on. She is a part of our family so naturally there will continue to be photos of our family, and it has been convenient to be able to share those with our other family and friends, but the way I do that may change a bit in 2016.

For now I am trying to get on top of the details in my life, mostly Ainsley's stuff like deciding on an AAC system, new IEP goals, medical and equipment follow up (I should be buying her forearm crutches right now), improvement and more consistent implementation of our home therapy/education program, as well as some personal stuff. It feels like this.

I would conclude this post by saying there is one thing that is easy about my life and that is loving Ainsley. Although that is very often true that wouldn't be a full truth and since I'm being honest that wouldn't be in the spirit of this post. There are plenty of times that she frustrates me and I lack patience with her or I feel resentful about aspects of caring for her and just wish things were easier. For her yes, but also for me. I know that her life is worthwhile and therefore everything I do for her is too. Knowing something in your head can't always change the way we feel. It is human to feel complex emotions about complex things. So instead I will end with a quote:

“Do not pray for an easy life, pray for the strength to endure a difficult one.” 
― Bruce Lee