The incredible shrinking brain

I know the post title is weird, but laughing is better than crying.  Went to Cicily's neurologist today to discuss her latest MRI (as well as meds, etc.).  Cicily has had 4 MRIs done of her brain. Comparing the first at age 1 1/2 and the most recent at almost age 8 was very enlightening.  Basically, Cicily's brain is shrinking.  She is losing white matter (leukodystrohpy) which we knew and she is also losing gray matter (poliodystrophy) which we thought may happen but not to this extent.  Does it really change Cicily's prognosis - no.  We knew her brain was losing tissue (where does it go?  I'd like to find it and put it back where it belongs.) and that it would lead to her losing function of her body until it can't function at all.  Now we just know she's losing white and gray matter.  It doesn't mean she'll lose function any faster, just gives us more pieces on the Cicily medical puzzle.  

For the interested readers, here are Cicily's images.  I find them fascinating.  

(White areas = fluid, light gray areas = white matter, dark gray areas = gray matter) I think

Cicily's brain MRI taken on 4/2008 (1 1/2 years old) 

Around this age Cicily could crawl; cruise furniture; identify animals, colors and shapes; and sign about 50 signs. 

Cicily's brain MRI taken on 7/2014 (7 1/2 years old) 

Around this age Cicily cannot crawl, or cruise, and can only sign 10 signs.  She can read sentences, has all previous knowledge and is still learning more. (How does she do it???  Nobody gets it, but she LOVES it, so I'm happy.)

Here are some MRI brain scans I found of children with typical development. (These images are T1 and the above of Cicily are T2, so the blacks and whites are sorta swapped.)

I realize not everyone looking at these images has the extensive 5 minute training I receive when I talk to Cicily's neurologists about her MRIs, but you can still look and appreciate the changes!

A few things to notice:

The big blob in the very center is fluid (as I understand).  There is so much more fluid in Cicily's 7 year old scan because something has to fill up the space left by her disappearing brain matter.

Underneath the "legs" of the white "blob" notice the light gray areas.  These are white matter.  You can appreciate how much smaller those areas are now than when she was 1 1/2.

If you look at the brain overall you can notice more "canyon" areas (bright white areas that look more or less like grand canyons in between large mesas).  Those canyons are where gray matter has disappeared and fluid has filled in the space (again, as I understand, anyway).  There are larger canyons and smaller mesas.  That's not what you want in a brain!

After the appointment I was asking Cicily if she thought looking at her brain was cool.  She was unimpressed and annoyed.  But later when I told her she should take her pictures of her brain to school if her 2nd grade class talks about brains in science she was all over it!! Then I joked with her about her incredible shrinking brain and how it reminds me of the shrunken heads on the Jungle Cruise ride at Disneyland and she thought that was amusing.  

New medical news

EEG

 Cicily was not a fan of having all the leads pasted onto her head.  Sister Sophie to the rescue!  Sophie and Maya can always make Cicily smile.  The test only lasted 30 minutes and then she was free.

In April Cicily had an EEG to test for seizure activity.  The test results showed: (drum roll please) nothing of course!  Just like every other medical diagnostic test we've done.  This girl is supposedly so perfectly normal!  She had one of her absence seizures just as the lady was putting on her leads, and then didn't have any during the test.


In May Cicily and I went to talk to a group of doctors (2 neurologists, 1 neurosurgeon) and physical therapists to discuss if a procedure called Deep Brain Stimulation (DBS) would be appropriate and potentially helpful for Cicily's dystonic movements.  We met for 4 hours and we even got to meet a girl who had the procedure and her family.  After the appointment the doctors and therapists met and discussed if this could help Cicily.  A week later we got a call saying they would like to do the procedure on Cicily.  Now it's up to Me, Chris and Cicily to decide if it's worth the potential gain.
For a DBS procedure the neurosurgeon places electrodes in the brain and then connects them to a transmitter placed in the abdomen.  Then 2 weeks later the neurologist turns on the electrodes and fine tunes them with the transmitter (all remotely).  It's supposed to help the brain send signals better and helps people control their movements better.  There is a 20-30% risk of infection with the surgery.  Knowing Cicily and infections, if there's that good a chance, then it's likely she'd get it!  Decisions, decisions
Here's more info on DBS if you're interested: http://www.mayoclinic.org/tests-procedures/deep-brain-stimulation/basics/definition/prc-20019122


Last week Cicily went to the geneticist.  She thought it would be a good idea to do another chromosome micro array because the technology has improved since Cicily had the test 5 years ago that showed normal chromosomes.  The great part for Cicily was they could now swab her cheeks instead of drawing blood. Cicily was quite happy about her cheek swab and kept signing to tell Dad and Grandma about it.  Results for the CMA come back in 2-3 weeks.  Probably will be normal, but if it's not you'll find out here first!

FAQs about Cicily

FAQs about Cicily 

(in plain non-medical, child-esque language)

What's that thing around her neck? 

It's called a trach.  It's a tube that goes into her wind pipe to help her breathe. 

Does she eat?

She does eat.  All her food goes straight into her tummy through a feeding tube.   She doesn't have to chew and swallow her vegetables.

How does she hear?

Without her hearing aids she hears like you do if you plug your ears.  With her hearing aids on she hears pretty much just like you.

Does she talk?

She says "yeah" and she uses her face and hands (sign language) a lot to communicate. 

Does she walk?

Nope.  She uses a wheelchair to get around.    

Why does she smile so much?

Cicily truly enjoys her life and all the things she gets to experience.  She loves making people happy.  She's not bothered or frustrated by all the things she can't do, she appreciates all that she can do. 

Does she understand things?

She understands everything that any kid her age does.  In preschool she learned colors, shapes, etc.  In Kindergarten she's learning about adding, letters, etc.
She also seems to understand many things that are only mysteries to most of us.    

What does Cicily have?

In Nov 2017 we FINALLY figured that out!  Cicily has a gene POLR1C that for her made her body develop different facial features (Treacher Collins Syndrome) and a disappearing brain (leukodystrophy).    

Does anyone else have what she has?

Not that we or anyone else we've ever met knows of.  If you think you may know someone - contact us!  Doctors know some people with her same gene that have TCS, and some that have leukodystrophy, but nobody with both.

Is what she has genetic?

We didn't think so.  But just found out that it IS genetic.  She got a recessive copy of the POLR1C gene from her Mom and Dad.  A genetic tragedy or serendipity depending on your perspective. 

Is she ever going to get better?

After she dies and is resurrected she will be all better!

Is she going to die?
Cicily should die before she fully grows up.  Doctors aren't sure how her life will progress/regress.  She is on hospice as of March 2017, so she'll likely die within the next few months.

What does she like to do?

She loves to play with her sisters and be entertained by them.  She loves animals - her dog and chickens specifically.  She loves reading books, feeding her chickens, going to school, singing time at church, going down slides, listening to her music, painting her toenails, being silly with her family and laughing, and many other things. 

If you have any Qs, leave a comment or email me.  I love to answer anything about my little girl.

New chair - it's a WHEELchair

You can see how happy this girl is about her new wheelchair.  Which is good because it makes her mommy happy about her new wheelchair.  You see, this girl was never supposed to be in a wheelchair.  She was supposed to not be able to eat, breath, or hear on her own during her childhood; but still be able to fill that childhood up with running, soccer, and dance lessons.  The first chair she got when she was 3 we called her bus chair.  It was only supposed to be helpful until she learned to walk.  Now it's obvious that won't happen in this life, and she needed more support, so we accepted that she needed a real genuine WHEELchair. 

First day going to school in her new wheelchair.  This is how it looked before it got Cicily-ized with purple polka-dots.

After the initial fitting appointment for the new chair, I drove home a bit too fast (that's one way I cope- driving, sometimes quickly).  When we went to pick it up, I brought reinforcements- Dad came along and joked so much it made it a little better still. 

Then Cicily came home and sat in her new wheelchair and could open cabinets in the kitchen, and could be tall enough to see the counters.  She was LOVING it!  When pajama time came, she refused to get out of her new chair!  That made it almost all the way better. 

Then I called a good friend Staci and asked her about getting vinyl polka-dots to put all over Cicily's new chair.  She did much more than I expected and worked it all out and brought the polka-dots over within days.  Cicily's happiness in her new pokda-dot wheelchair made the need for a WHEELchair all the way better!

 

And if you're curious, this baby cost more than either of our cars.

I've been avoiding this - MRI results

So the week before Christmas Cicily's favorite neurologist had a heart to heart with Chris and I about Cicily's MRI. Basically it doesn't look any different. There's still no white matter, which is what we expected. The Dr. showed the MRI film to 12 or so colleagues and they all agreed you can't get less than zero! She said if we're seeing a decline in Cicily's abilities, then that's the path we should expect her life to continue taking. Cicily will most likely not live into adulthood. There are no definitives with this type of brain situation. But, the doctor felt it would likely go one of two ways. Cicily will get really sick - a bad pneumonia - and her body won't have the strength or control to heal and recover. Or, her body will slowly lose more and more function. This would mean she'd gradually lose the ability to crawl (which is somewhat happening), sign (also happening), sit, hold up her head, digest food, and so on, and ultimately breathe. As the doctor put it, she'd at some point "stop being Cicily". I hate that phrase, but want to type it instead of say it so I don't cry. I can sometimes talk about her dying in person without crying, but I hate the thought of seeing her "not be Cicily". I can't imagine her living too long without being able to smile, laugh and enjoy life with us. But, there's no way to know how long or when this would all happen.
We were expecting all of this news. Chris and I had both independently thought of aspects of Cis' funeral and what it would mean to not have her around. It still sucks to hear it and discuss it all with a doctor. It's also kind of relieving to have some sense of how Cicily's life may turn out as it's been a huge cloudy mystery since the white matter discovery 2 years ago.
I think back to how I pictured her life shortly after she was born: "By the time she's 20, you'll never know all she's gone through, she'll have a 'normal' life. It's ok if she can't talk 'on time', at least she'll still walk when she's 'supposed' to." Then when she was 3: "Well, she doesn't have white matter, but she'll just take longer to talk and walk than we expected. At least she learns as fast as other 3 year olds." Now that she's the ripe old age of 4: "She's going to die, possibly slowly and painfully. At least she smiles and sincerely enjoys life (at least - for now).

Getting worse

Cicily is scheduled to have another MRI of her brain on Dec. 2nd. Chris and I, Grandma DeEtte, and some of Cicily's therapists have noticed an increase in "shakiness" in Cicily in the last 9 months or so. She doesn't have enough fine motor control to sign as well as she once could. She is too wobbly to sit on any kind of chair without support. She still crawls, but in a more sitting posture and gets tired of crawling more quickly. Those are a few examples.
So, Cicily's neurologist (well, our favorite neurologist of the 6 or so she's seen) agreed it would be a good idea to have another MRI done. Maybe somehow eventhough she had no white matter to start with at 2 years old, it could somehow get worse?? Who knows!
We're anxious to see if the MRI shows any change in her brain in the last 2 years.

Hippotherapy

What is that you may ask -as we did - some kind of therapy employing hippogriffs? It's actually therapy on a horse. Cicily does her hippotherapy with an experienced, caring physical therapist named Rachel and a patient pony named Ruby. I could explain hippotherapy, but this is a short, great explanation already written, (plus I'm really not a hippotherapy expert yet). http://www.americanequestrian.com/hippotherapy.htm It basically just makes sense in an intrinsic sort of way - you sit on a horse that moves and your brain figures out better how to move. It is more expensive than other therapies, because we have to pay the stable costs. We sort of count it as Cicily's "extra-curricular" activity for now, since we can't exactly pay for dance or singing lessons for her, so she gets horse time (which she probably loves better anyway).

Cicily LOVES seeing all the horses and petting Ruby! Enjoy some pictures of Cicily enjoying her Ruby time.

Signing "walk" to let Ruby know to get the fun started.

After each lap around the arena, Cicily gets to climb off Ruby and tickle her nose. It's definitely Cis' favorite part of the whole deal.

Telling Ruby thank you.

Mommy's favorite part of hippotherapy.

White matter specialist appointment update

We took Cicily to see Dr. Bonkowsky in Salt Lake City this week. He is a PhD/MD who researches white matter diseases (leukodystrophies - I'm going to have to get used to spelling that one!) He confirmed that Cicily does have hypomyelination (an absence of the white matter/ myelin coating her brain). He also was somewhat surprised to see her abilities given her limited white matter. From what I understand (which is not a lot, as I'm learning yet another set of medical jargon), hypomyelination is caused by an underlying leukodystrophy. According to Dr. Bonkowsky, 30-50% of leukodystrophies are undiagnosable at this point and none of them are treatable/curable. The United Leukodystrophy Foundation has some good information: http://www.ulf.org/ Cicily's leukodystrophy is "static" though, meaning she should not get progressively more severe.
Dr. Bonkowsky suggested 5 more tests in addition to the other ones her doctors here have already done to identify the leukodystrophy or what causes her hypomyelination. The good doc also enrolled Cis into his research pool to use her case in future research and inform us if there are any new developments.

So Cicily has "Treacher-Collins - like syndrome" and a currently unknown leukodystrophy. It's a novel combination and Cicily will show us all how they affect one another and what she can do inspite of it all.

A new detective in the Case of the Missing Myelin

We asked Cicily's neurologist #4 if he could provide us with a list of neurologists who specialize in white matter issues. He kindly gave us a list of 3 doctors who research white matter (myelin). One was in Salt Lake City, one in Maryland, and one in DC. We checked into all of them and what research papers they've written. We're quite excited because they all have a strong interest in white matter diseases. We decided we'd start closest to home, and see if we could get Cicily in to see the doctor in Salt Lake City.
So in July we'll be heading up to Utah. The doctor we're going to see is an MD and PhD. He uses zebra fish to study white matter. We're hoping he will get interested enough in Cicily to study her white matter, or lack therof rather.
We've decided to stay a few extra days and make a vacation out of the trip. That means two of our last three vacations have been planned for appointments with doctors. Good thing we have doctors to see, or we'd never get a vacation!

Random Photo: I gave Cis a tangelo from our tree that wasn't going to ripen. She popped it into her mouth and thought she was so funny!

Sporting Orthotics (not braces)

Cicily is finally (after waiting 2 months for insurance) wearing orthotics on her legs to help her stability. They are technically AFOs, ankle foot orthotics. Maya may correct you as she did her aunt if you try to call them braces. Are you thinking what I think everyday when I put them on, "how much more gear can you put on a little body??" The plus side - she does get to wear expensive skater shoes that I'm sure someone thinks are cool.

Cicily is not a fan of the AFOs. She hasn't learned how to maneuver and crawl in them yet, so they actually limit her mobility at this point. I'm sure she'll get it sometime, I just hope it's soon! They do really help her gait though when we hold her hands and she walks. They also help her legs stay at a better angle when she stands at the couch and make her more stable.

Don't worry, the walking equipment plans aren't over yet. In addition to AFOs she may also get to sport a spandex compression suit to help her stability, and not just an old-lady walker, but a super walker called a gait trainer! Of course none of it sounds like a great time to me, but if it is a step in her gaining the ability to walk, I'm for it. Hell, if it'd help, I'd put her in a bubble of pickle juice all day!!!

White Matter - why it matters

So we had 2 more neurology appointments this week and found out a little more info. Apparently Cicily has no white matter. I asked the doctor how she's able to do anything at all without any white matter and he basically said what they see on the MRI doesn't really add up with what Cicily is doing (average mental capabilities, crawling, signing, etc.). The other neurologist said that newborns can't do anything but flail around and cry because they don't have any white matter in their brains. So basically Cis should act like a newborn; but she doesn't?!? We're of course, not sure why or what this means, but we'll gladly accept it.
It is also clear that Cicily never developed myelination. Her status can't really deteriorate, because as Chris put it, you can't get any worse than zero!
I also wanted to make clear that hypomyelination does not occur with Treacher Collins Syndrome - ever (that anyone knows about). However, we've always been skeptical that Cis has TCS as her genetic tests come back without the TCS gene change and her facial appearance is slightly different from classic TCS. The 3 geneticists we've seen feel TCS is still the best fit for her though, and we agree. I've wondered if Cicily's body may have some protein issues that affect both her TCS characteristics and her hypomyelination, as they both can be caused by proteins not working correctly. We're still doing the spinal tap on the 30th and the neuro-genetics docs are getting back to us on what tests they want to do - genetic, metabolic, fatty acid chains were mentioned.
We are very glad to be working with good neurologists and a geneticist who all seem to be very intrigued by Cis' mysterious, unheard of combination of characteristics. So far they are all doing their research to try and solve the puzzle. We hope they continue to be interested! Chris hopes Cis makes it into some medical journals as "patient A".

Why is Cicily not walking?

We may have found part of the answer to why Cicily is so "wobbly" and has irregular eye movements (nystagmus). Cicily had a 2nd MRI of her brain last week which showed she has hypomyelination of white matter - it's the coating on the brain which helps get signals to the places they need to go. It's developed between 0-3 years old. So in Cicily's first MRI at 1 year old, the lack of white matter wasn't very significant, but now at 28 months old, it was very notable.
We still do not know why she is so deficient in white matter. Apparently it happens with certain genetic diseases or metabolic disorders. One of her neurologists has ordered a spinal tap to test her spinal fluid for various metabolic disorders and other cool, unusual things. So, we're anxiously awaiting the spinal tap and hoping it provides further answers. We're especially hoping the final diagnosis is treatable.
We'll continue to work with Cicily's 2nd and 3rd neurologists and see a 4th soon as they all seem to have different areas of expertise and hopefully together they can figure out our adorable, enigmatic little lady.
I was at first very nervous and upset about this new finding as it's affects can be pretty devastating. I actually feel good about it now though and have faith that in some way the many blessings Cicily has received will be realized. As I said before she was born, she'll grow up and be just fine, I just worry about what she'll have to go through to be fine. (I didn't have a tiny inkling of how much she would have to go through.)