Monday, March 2, 2015

Let's All Play Catch-Up!

Hello there, Interenet! 

I'm pretty sure I've lost all of my readers in the last seven months.  Some of you have found ways to get in contact with me to make sure everything was okay.  Thanks for checking in. 

I didn't stop blogging.  I just got overwhelmed with all the information I had coming in and didn't really know how to put it into words.

So, let skim over the things that don't really matter.  There were some hospitalizations.  We've actually only spent a little over a month in the hospital since July which is a huge change for us.  I think all of our time spent recently was due to infections.  One of them was really internal bleeding scary.  The others just required hospitalization because the only IV antibiotics they could use to treat the particular strains of bacteria infecting Aria were nephrotoxic so they needed to closely monitor her kidneys.

Speaking of kidneys, we kind of really need to do something about Aria's bladder and kidney issues.  We've been bucking a big open surgery to fix this problem for a few years.  The scales of weighing quality of life against medical intervention seem to have tipped in the favor of the surgery.  So, that's likely to happen soon.  I just need to pull the trigger.

Blood counts are not great but definitely could be worse.  Given Aria's current counts, Hem-Onc recently asked me what our plan would be when Aria gets to a point where she's transfusion-dependent.  We aren't far off from that and, if you had asked me what our course of action would be when it all seemed hypothetical, I would have had a definitive answer for you.  I just said we'd talk about what not intervening would look like when we got there.  He let me know that the decision he thinks we will make is a decision he thinks is the right one for Aria. 

There was another stroke.  We didn't even notice it.  It was probably a day where she was just screaming and screaming and seizing and seizing. An imaging study looking for something else picked it up after the fact.  My application for "Medically Fragile Parent of The Year" is in the mail.

The nerve in Aria's left eye degenerated.  So transplant on that eye, the eye that used to function the best based on ERG and VEP results, is off the table.

Daisy is kicking ass and taking names with all of her therapies.
So, lets talk about the things that I didn't say before July when I stopped writing.  This will be fun.

Aria's cornea transplant is covered by scar tissue.  She has about a 2mm hole left to see out of with one eye.  That hole is covered by some blood vessels and the treatment, an off label use of a chemo drug injected directly into the eyeball, can't be used because of her FA.  She still has a tiny bit of vision it that eye which is infinitely more than the amount of vision she had before the transplant.  I've been just kind of not talking about that for a year.  If she ever loses that entire transplant I'm going to be super pissed about the twelve pounds I gained during transplant follow-up that I can't seem to lose. Priorities.

Aria stopped hearing with her BAHA.  I mean, we were never sure if she heard with it or if she was just feeling the vibration since her hearing impairment was right at the limits of the BAHA's capabilities. When she first got her BAHA she was responding to sounds in the normal range in the sound booth but she could have been responding to the sensation.  We were happy with awareness of sound even if it was through vibrotactual input because we were trying to avoid putting her through a Cochlear implant surgery (that's the route ENT wanted us to go from the beginning).  Also, measuring behavioral responses in a sound booth with Aria is kind of a joke.  I made her wear it for like six months after she stopped responding to all sound just so I didn't have to talk about it with people while we explored our options.  She hasn't responded to sound in well over a year and I'm not so sure that she ever got anything more than vibrotactual stimulation from that hearing aid.  It was fun to bedazzle the headbands while it lasted though.

We eventually went for a cochlear evaluation, another ABR, and MRI and found that her hearing had declined way past the limits of the BAHA.  They got no brain stem response on the left and responses on the right in the profound range.

Of course, Aria's health is not the same as it was when a cochlear was initially suggested as the best option so I found myself fighting to improve her quality of life once again.  All of the surgeon's concerns were valid but the risks he was considering did not outweigh the possible quality of life benefits to Aria given the fact that her cornea transplant isn't doing great and transplanting the left eye is no longer an option.

He initially proposed implanting on the left side, away from her VP shunt that tends to have a lot of problems, hoping that it would work even though there had been no brain stem response from the ABR.  We simply were not going to do that.  We would have done bilateral but we were not going to put her through a surgery that looked like it probably wouldn't work.  It took coordinating conversations between multiple specialists across multiple hospital systems but, in the end, her physicians agreed that the possible benefits for Aria outweighed the risks.  She was cleared for a Cochlear implant.

So, in the end of January, Aria had a Cochlear implant.  Aria normally spends most of the winter inpatient because fighting off seasonal viruses is just not something she excels at.  I was so committed to getting this implant done that Aria didn't leave the house for over a month unless she was going to her Intervener's pre-sanitized house.  All therapies were cancelled and she did not attend school.  I did not want to risk her getting a virus and getting the surgery, a procedure that schedules many months in the future, cancelled. 

Confession time:  The afternoon before her procedure we busted out of the house to go to Disney on Ice and brought Aria with us.  I figured, if she caught a virus that day, she wouldn't be showing symptoms by the time of the procedure.  This is where I need you to stop judging me because she didn't even get sick from going to hang out in that cesspool of kids.  Besides, look at these pictures:
Mommy and her girls
Daddy and his sweet Aria
The day of the procedure went well.  Aria has a habit of completely freaking out in hospitals so the anesthesiologist gave her some pre-op versed at my request which allowed me to snuggle my girl for awhile before the procedure and for her to fall asleep without screaming and fighting. Plus I got some good Aria on versed photos:
This is so much better than screaming and crying
Nice relaxing snuggles before surgery
Aria's surgery went very well but wasn't typical because of her very small oddly shaped skull and the presence of a VP shunt where they would typically implant the device.  I was told that most Cochlear implants take about 2.5 hours.  Hers took 7.  The cochlear system she received has 16 electrodes that get implanted.  At the time of the surgery 13 of the 16 electrodes yielded a brain response.  They only need 6-8 functioning electrodes for the device to work.

Aria has been working hard on healing since the procedure.  Often the device is activated about two weeks after the procedure.  We are waiting about three times as long. 
Aria stayed in the hospital for one night after the procedure.
The procedure was a little rougher on her than anticipated.  I also did not expect her to experience as much post-op pain as she did.  I spent a couple of nights in her bedroom crying as I failed to manage her pain, just hoping this procedure would be sucessful and that she wasn't going through this for nothing.  She actually became so bruised and swollen that a small procedure under general in PA to inject some steroids into her eyeball to stop the growth of scar tissue was called off.  
You should see the other kid.
She did end up getting her eye procedure done fairly recently.
Snuggling Aria-on-versed all the way to the OR in the sassy and flattering little outfit.
I guess you might be wondering why I haven't discussed the Cochlear implant much.

Before the procedure whenever I would share with people that Aria was getting a Cochlear implant, the overwhelming response was "I love watching those videos of kids hearing with Cochlear implants for the first time!"  or "Did you see that video of that kid hearing his Mom's voice for the first time?"

Basically I was afraid that people would start flooding me with these videos or stories of people they know who communicate very well as a result of their cochlear implant.

You guys.  That's not going to happen.

Not only is that not going to happen but that has never even been our goal.  For anything.  Our goal is to give Aria more access to information about the world around her.  We know that her brain stem has responded to auditory input but that says nothing for how Aria will process that sound, whether she will find meaning in those sounds, and if those sounds will translate into speach for her.  We aren't pulling any of those possibilities off the table but they are not our expectation.  Not even close.

Every family has to go through this cochlear implant evaluation checklist.  It took me about nine months to complete everything.  Once Aria was officially a candidate based on imaging studies and ABR results we had to go through the last step of the pre-cochlear checklist.  It was a psychological evaluation for the family.  We had to go into a psych ward with our kids so that we could be evaluated to make sure we had appropriate expectations and that we had a thorough understanding of and willingness to followthrough with the shockingly small number of post-implant appointments.  The psychiatrist was nice enough but I wanted to throat punch her the entire time.  I had a feeling that a throat punch would automatically get my kid disqualified so I didn't dole any out.  The idea of sitting in front of someone who has never even met your child before while they try to explain your own child's limitations to you and then evaluate how well you take it, as if any of these limitations were news to you, is laughable.  It was a waste of time and money but a necessary evil, I guess. 

Frankly I was afraid that allowing the peanut gallery to weigh in on Aria's Cochlear implant with their unrealistically high expectations for results or - worse yet - warnings that activating a Cochlear for the first time often is not a good experience for children would make me want to throat punch you too.  And we are all friends here.  I don't want to throat punch my friends. 

My expectation is that Aria will become aware of sound once again like she was when she initially got her BAHA.  My hope is that she will startle less when people approach her.  My dream is that she will one day hear me tell her that I love her and that those doting sounds will provide her a better understanding that she is loved beyond words.

Our expectations are simple and I feared that allowing others into the process would make it more difficult than it already has been. 

Aria's device gets activated in two days.  Here's hoping our expectations are met.


Wednesday, July 16, 2014


It's kind of crazy to think how far we've come on our journey with Aria. When I think of all the things we were told she wouldn't ever do and then look at where she is today I'm in awe.

We were told she was deaf and nothing could be done about I took her to a few different places and now she hears (well...she heard.  That's a different post for a different day). We were told she was completely blind and nothing could be done about I proved she had at least light perception in one eye and, after being completely blown off by an entire team of doctors, took her somewhere else and now she sees some out of one eye.  We were told she likely didn't have enough brain matter to even breath independently once she entered the we gave her a chance and she breathed without extraordinary support. We were told she would spend her life in an infantile I ignored the haters and now she scoots across the floor, cruises aimlessly in a gait trainer, sits on occasion, and purposefully plays with toys. Most importantly, she smiles and laughs.  She's still severely disabled and it's hard to watch my friend's nine-month-olds fly right past her developmentally but Aria is making progress.

There was one thing we were always told Aria would be able to do but, after years, it was getting hard to believe.  We were told that, if she proved to have the capacity to use her arms, she would be able to have them operated on to make them more functional.  We were told that this surgery is generally done around 18 months of age.

Around the age of one year it became apparent that Aria did have the cognitive capacity to use her arms.  I made an appointment to see an orthopaedic surgeon who specializes in radial club hand for when Aria would be 18 months old. It was at that appointment we discussed a plan for Aria's arms.  Part of that plan involves moving one of her four fingers on each hand over, rearranging some muscles and tendons and creating a thumb.  I was told, in order for the new thumb to remain alive, Aria needed to be THE SIZE of an 18 month old...otherwise her capillaries wouldn't be able to support the newly placed appendage.  We were sent home and told to come back when she was the size of an 18 month old.

Well, shit. Aria is good at many things.  Growing is not one of them.
Princess Aria holding a silver rattle during her One Year Old photo shoot.
When Aria finally got to be a little under 20 pounds at around two and a half years I hopefully took her back to the surgeon.  She weighed about as much as Daisy did at 18 months and was about 24 inches long.  She was starting to scoot around the house and I knew the only way she'd ever be able to get into a true crawling position would be for her to push up on her hands rather than her elbow or twisted ulna.  She was also doing some independent sitting but we struggled to help her find a way to transition from laying to sitting with such short arms.  Try to imagine a t-rex transitioning from laying to sitting. Just another thing, like making a bed or push-ups, t-rex can't do.  The surgeon informed me that Aria still was not quite big enough to undergo the life-enhancing surgery and said I should come back in about six months.

 I came back about five months later. In the interim, I had made it my mission to grow Aria into a child large enough to make her arms straighter and her hands capable or grasping an object.  Aria had gotten up to about 22 pounds and was about 26 inches long.  In my mind she was a short and stout 18 month-old-sized almost three year old. In the mind of the surgeon she was still too small.

He said he'd like to see her be around 30 pounds to do the surgery.

You guys. Daisy is almost five years old and doesn't weigh 30 pounds.  I don't know what 18 month olds he's been looking at but they certainly aren't the ones coming from mine and Kevin's gene pool.  At this point Aria was wearing 3T shirts and too-long-for-her 24mo pants.

So I really started pushing feeds.  I was aggressive in increasing continuous enteral feeds over night in order to get Aria to gain weight.  She's so sedated from all of her medications over night that we are able to increase feeds without much trouble.  We haven't been able to increase the size or frequency of daytime feeds since Aria left the NICU. She freaks during daytime feeds. She hates it and I hate it for her. 

In trying to grow my child to the size of an 18 month old as defined by the hand and arm surgeon I succeeded in growing a 26 inch tall three-and-a-half year old who weighed 27 pounds.  She was obese.  The same people who had labeled my child as "failure to thrive" earlier in her life were now trying to put her on a diet.  The know-it-all in me felt validated.  Before I went elsewhere and got Aria her Fanconi Anemia diagnosis I was constantly at odds with the physicians managing Aria's feeds.  The doctors told me the reason Aria wasn't growing was because I didn't feed her enough.  My assertion was that there was obviously an overlying cause for all of Aria's problems and perhaps the reason she wasn't growing and wasn't able to tolerate increased bolus feeds was because her unknown overlying condition makes her unable to grow and that shoving more food into her distended belly wouldn't make her bigger.

Case and point: I was able to max-out the calories on her renal formula and increase feeds while she's shnockered overnight but it just made her fat...She had gained 25 pounds since birth and 13 inches.  That's one messed up height to weight ratio. 

Once they started pushing to put Aria on a diet, I told the renal and complex care teams managing Aria's feeds that I was not willing to put her on a diet until the orthopaedic agreed she was big enough for this quality-of-life surgery.  Aria's neurodevelopmental pediatrician went to bat for Aria, calling the orthopaedic and explaining that developmentally now is a perfect time to give Aria more functional hands and arms and that, given her diagnosis, it's possible that she might never be the size of the 18 month old he is picturing...and VOILA! Aria is suddenly the perfect size to have the surgery.  It's amazing how easy it is to get awesome things accomplished for a child when a physician rather than a parent is doing the advocating.

Aria is scheduled to have her first surgery on her dominant right arm on August 11th.  Pins will be placed in her wrist so her hand faces outward rather than turning in toward her forearm (this will give her a further reach) and one of her four fingers will be moved into a different position to become a thumb, allowing her to grasp objects for the first time in her life. She will be in a cast for three to four months and then the other arm will be operated on.  All of this will happen if Aria's platelets stay about 40.  They are currently resting slightly about that number.

These are the types of procedures we find to be most important for our child.  These are the procedures that will make her life better for however long she is on this earth.
We bought Aria the PERFECT shirt to wear on surgery day!
But then - strangely enough - there is something so sad about finally being to the point where Aria's arms can be fixed.  I remember learning of her limb deformity in utero.  It was one of the last things we learned of just a week or two before giving birth. I knew of all the organ defects but was hit hardest by the limb deformity.  For me, knowing that my child was different would be glaringly obvious to everyone who glaced our way, meant there would be no more anonymity for me. There would be no going to the grocery store with my special needs child without anyone noticing that my child differed from the was going to be SO obvious that my child was different. My days of flying under the radar were through.  That was a hard thing with which to come to terms.

Aria's radial ray deformity on ultrasound.
And when she was born, Kevin and I were shocked to learn she only had four fingers on each hand. We had sat in a room with a high risk pregnancy doc counting all 10 fingers on ultrasound just weeks before.

The missing thumbs were just an extra shock...a bit hard to get used to.  It was the first thing I noticed the first time I was allowed to see my child.  I didn't see the tubes or the machines. I saw her twisted arms.  I saw simultaneous beauty and dysfunction in them.

Then to learn that she was deafblind on top of these limb deformities was nearly impossible to fathom. There are actual legitimate communication systems for individuals who are deafblind.  There is an entire language (TASL) used by the deafblind entire language that interpreters know and use to help give deafblind people access to the seeing and hearing world and the deafblind individual who I love was being excluded from using these tools because of her arm and hand deformities.  Every time I went to a conference or watched a video where I saw deafblind individuals communicating so well through the use of their normal hands it stung.  And, even now, knowing that Aria's hands and arms will be fixed I know that missing one finger is still going to pose a problem for communication in the mainstream deafblind community. Talk about a twisted fate.
In the early days of Aria's life, as we started working with her arms and she got her cute little braces that she would eventually outgrow requiring her to get bigger braces that were just a little less cute I began to fall in love with those twisted little arms.  They were just so uniquely Aria. 
Baby's first arm braces!
So, while her new arms won't look normal by any stretch of the imagination, they're going to look so different from what I've gotten used to.  They'll be more functional and Aria should be able to grasp and pick things up for the first time in her life.  I am hopeful that we will one day move past the use of object cues and into the world of TASL with the help of her fancy new hands.  This is going to be a life-changing couple of surgeries.
It's just that I never thought I might find myself mourning the loss of those beautifully twisted little arms I tried so hard to get rid of...

Sunday, June 29, 2014


I don't know what it is but I rarely see people with severely disabled kids out in public doing normal family stuff.  It's even rare that I see a child with autism out and about. The weird thing is that I know there are a lot of these kids in our small community. I know this because they and their families show up to all the special needs friendly events, therapies, and support groups.  I just never see them anywhere else.  It makes me wonder why...Do they just not leave the house?  Have I just never run into them?  I truly don't know why I never see these families out and about and I don't know if there is a tactful, non-judgmental way to ask. 

I know I'm different from your typical special needs parent in many ways.  The most striking difference between "the others" and me is that I refuse to see my children as precious little gifts. I stand by my previous statements that special needs children are probably one of the shittiest gifts a person could be given.  I don't care how much I've grown as a result of having my children.  I could care less that I've surprised myself with an ability to love in ways I never thought possible or my capacity to feel compassion to the point it actually hurts. My personal growth is not worth the suffering of another human being. Period.
Sorry, Folks.  If you're looking for a mom to tell you this is all sunshine and rainbows you can find her on just about any other disability blog.
One of the more subtle differences between "the others" and me is my refusal to live a life different  than what I had imagined for myself and my family before Kevin and I created a genetic shit storm and had children.  We still go on vacations.  We go to the park.  The kids ALWAYS come to the grocery store with me (even though that sometimes means putting Aria in the front of the cart, Daisy in the main part of the cart, and pulling a cart full of groceries behind me). I take both of the girls to church with me every week and I don't put Aria in the nursery during the first half of the service when the non-infants are supposed to stay in the sanctuary.  She sits on my lap and moans and groans loudly while Daisy sits next to me acting pretty dang autistic.  We go out to eat. A lot.  We go to museums and try to find ways for Aria to get as involved as any other kid.  I've been known to remove her pants and shoes and burry her in the paleontology pit just for the sensory experience.  I'll even pull a staff member aside and ask that they do a private meet-and-greet with the animals for Aria so that she can take her time getting comfortable enough to touch the chinchilla or bird instead of having to rush through the (probably very scary) process of having an animal thrust in her space during the scheduled animal encounters with all the other kids at the museum.  I even bring our own little baby bath and water warmed to Aria's preferred temperature to the club and set her up in her own little pool so that she can splish splash away while the other kids play in the traditional pools. Just in case it isn't abundantly clear, doing all of these things with my kids is a logistical nightmare.  But it's so worth it in the end.

Basically we're a giant spectacle everywhere we ago.  And, while the stares and whispers are super annoying, I just simply don't care.  I am not going to forego living a "normal" life just because I have two special needs kids; one of whom has some physical features that make the general public a little uncomfortable.  I refuse to hide. I refuse to stay home.
So, anyway....

We are really into picking our own produce.  It's a fun way to help Daisy understand where her food comes from and even leads to her trying new food on occasion which is awesome since she is horrified by the vast majority of food.

Yesterday we went to the Waffle House (side note: We LOVE Waffle House! Kevin and I got engaged at the Waffle House. I am not joking).  After finishing off our All Star Specials and making the staff uncomfortable with our children we went raspberry and blackberry picking. It was a gloomy day and was drizzling intermittently which meant we were the only family at the u-pick farm.

The last time we went raspberry picking at this particular farm Daisy was less than a year old and I was 4 months pregnant with Aria.  I was also wearing the same shirt I wore berry picking yesterday...perhaps I should update my wardrobe! Seriously, though.  Check out how cute Daisy was right here .  Now that Daisy is a little older Kevin got to show her how to find the berries ripe for picking and Daisy filled two containers with berries: one for her to eat at home, and one to bring to share with the other children receiving services at the ABA Clinic.  There is something so precious about watching your child ramble on about picking her "redberries" as she proudly eats them.

Aria also had the opportunity to touch the bushes and, using hand under hand, pick a few berries, put them in a basket, and use her hands to explore the texture of the berries in the basket sitting on her lap.
I kind of love these little girls
All-in-all it was a successful trip. When we were done with our little adventure, I loaded the girls into Kevin's car and, using an object cue card, let Aria know that we were heading for home.
We attach cards with objects on them to Aria's car seat.  The objects represent the places we most often visit.  Providing Aria with these cards allows her to anticipate where we are going to next.
Once home we loaded the kids up and walked a little bucket of berries over to some neighbors who had just moved into the neighborhood so that we could introduce ourselves and our beautiful children.  I think it's important to do things like that not just so they feel welcomed into our neighborhood but also so they know they don't have to be afraid of or uncomfortable around our family.

Then Aria spent the rest of the evening doing one of her favorite things: proudly cruising around in her gait trainer. 
It's days like yesterday that validate my decision to live as public a life as possible with my spectacle of a family.  I just can't imagine all the joy we'd miss out on if I weren't willing to put in the extra effort to have these normal life experiences with my girls...even if it means we have to do things a little differently and with more difficulty than everyone else.

Saturday, June 21, 2014

One of Those Metaphorical Days

Today was one of those days.  One of those adorable days when Aria spends hours making her way across the living room floor, down a short hallway, and into her bedroom.  There is nothing pretty about the roll/scoot/crawl combo she has invented to get around and there certainly is nothing efficient about it but, when she chooses to move, she moves with a purpose.  Who am I to get in the way of that kind of progress?
I think the most interesting thing about Aria crossing the border from the main part of our home to her bedroom is the way she stops right in the doorway where the carpeting changes and just basks in the glory of her success. For like an hour.  She rolls back and forth laughing and kicking the doorframe.  On occasion she will move into her room to play with a toy that I put there for her once she's arrived (she's like the poster child for positive reinforcement) but mostly she just revels in the small amount of progress she has made. Because, to her, that change is more meaningful than anyone can know.
On these days I feel like life is beating me over the head with a metaphor.

If Aria can just lay there and revel in the incremental change of crossing from the hallway to her bedroom, I can better celebrate the small things. I can learn to better appreciate the progress we have made with our little girl.

Sure. My three and a half year old gets passed developmentally by nine month olds but, in just three years, my child who no one had any expectations for, has packed in nine months of development.  She has not remained stagnant and I don't see her development stopping anytime soon.  In fact, she's on a bit of a roll/crawl/scoot right now.   Slow as it may be, I'm going to take the time to stop and revel in her success just as she has.
Now watch this video of Aria and me working on signing "more" at the park tonight:

Then look at this picture I snapped of Daisy and Kevin as I dropped them off to go fishing for the first time this evening:

Then look at these stills of Aria enjoying the swing:
Then try to have a shitty night.  I dare you...

Monday, June 16, 2014

Definitive at Last

Our sweet Daisy is growing up so fast.  She is now a beautiful four year old who loves to read, sing, swim, and ride rollercoasters.

There has been so much uncertainty for us with Daisy. I always knew there was something not-quite-typical about our oldest child but finding answers was so difficult.  From some of my clinical training I knew Daisy had sensory processing issues from a young age and, by the age of one, I was willing to admit to myself that she was on the autism spectrum.  It wasn't until the age of three that we sought out an official autism diagnosis since one wasn't needed to receive early intervention services.

More concerning than the autism were Daisy's physical symptoms.  She suffers from ataxia, difficulty coordinating muscle movements, which has lead to gross and fine motor delays.  Piggy-backing on her standard ataxia symptoms is her nystagmus which was diagnosed when she was about nine months old.  This causes her eyes to constantly track back and forth and slows down her visual processing speed. Daisy also has microcephaly, a non-significant heart defect, and a resting tremor further complicating her gross and fine motor delays.  She is considered to have poor growth but, since Kevin and I are fairly small people who happen to be the biggest in our families, we try to ignore that diagnosis.  I mean, there wouldn't be a standard growth curve if there weren't a few kids to hang our in the 0.02 percentile, would there?

The fortunate thing for Daisy is that she has a sister whose medical and developmental issues far overshadow hers.  I think this has been somewhat of a blessing for Daisy since it has allowed her to just develop into the best little Daisy she can be without parents always hovering over her and trying to "fix her" or figure out "what's wrong with her".

With that said, we have quietly continued on a search to find a reason for Daisy's constellation of symptoms.  Over the years we've done a ton of genetic tests as we followed up with neurology and genetics every three to six months. All of these tests came back negative.

We do know that Daisy is heterozygous for the N148S mutations in the ABCD1 gene (adrenoleukodystrophy) but we knew that would be the case before we chose to have children. We also knew that, at the time, all the literature said there was nothing to worry about in terms of young female carriers of ALD being affected.  We know, by looking at our family and the literature, that older female carriers can suffer neurological symptoms later in life which affect their coordination similar to the ways Daisy's coordination has been affected.  So, it was concerning that Daisy was having some of the same symptoms as the grown women in our family.

Then, of course, we learned that what we thought we knew was not true. In fact, there have been a couple of young female ALD carriers who were affected by their ALD carrier status.  These carriers tend to have skewed X-inactivation studies.  Basically, since females have 2 X chromosomes, approximately 50% of the genes should come from mom and 50% should come from dad.  It has been found that some females affected by X-linked genetic conditions have some of their X genes deactivated by the bad X genes leaving a skew.  This is the case for Daisy...she is split 87% and 13%. 

This gave us pretty good evidence that Daisy is, in fact, one of the unlucky few female carriers of adrenoleukodystrophy being affected.

But, before we were willing to say that ALD was the cause there was one more test we wanted to do.  We wanted to rule out every possible genetic condition before we would say that Daisy was being affected by her ALD carrier status. So, we brought out the big guns and did whole exome sequencing testing on Daisy, Kevin, and Me.  This test looks at every single piece of every one of all three of our genes.  There is no way to miss a genetic diagnosis with whole exome sequencing.  We knew that if nothing else showed up in Daisy's genetics that the answer had to be the ALD.

We had our blood drawn in October, 2013 and were supposed to have results in February, 2014. We finally got our results in May, 2014...and now we have answers.

Daisy is heterozygous for the de novo R613X mutation of the CASK gene. It's not the ALD. Daisy has a CASK gene mutation.

The CASK gene encodes the calcium/calmudulin-dependent serine protein kinase, a member of the membrane-associated guanylate kinase(MAGUK) scaffolding protein family.  CASK is highly expressed in the nervous system and plays a role in synaptic transmembrane protein anchoring and ion channeling in the cortical cytoskeleton.  A spectrum of phenotypes has been associated in both males and females with mutations in the CASK gene.

Affected males can present with lethality, isolated intellectual disability, or severe neurological impairment with pontocerebellar hypoplasia.

Unaffected carrier females have been reported, however females with CASK mutations can also present with mild to severe intellectual disability with or without opthalmological findings such as nystagmus,optic atrophy, and glaucoma, dysmorphic features, autistic traits, and brain malformation.  including disproportionate pontine and cerebellar hypoplasia (Moog et al, 2011; Berglem et al., 2012; Hayashi et al, 2012). Neurological findings such as seizures, resting tremor and gait abnormalities have also been reported in patients with CASK mutations. It's also important to note that female's with skewed X-inactivation studies are those who are most likely to present with neurological symptoms of CASK gene mutation.

So, what does this all tell us?

Nothing really other than why.  We don't have to change the way we are doing anything.  Daisy is getting a ton of therapies (way more than I'd prefer but they're helping so I put my wishes aside).  We just need to continue on the same path.

It tells us why Daisy has the challenges she has.  It tells us that, while she might be affected neurologically by ALD later in life, ALD is not the cause of her current symptoms.  Daisy is affected by a CASK gene mutation.

Some good has come of this.  Primarily, we are relieved to know that this is not a degenerative disease.  Daisy had been diagnosed with progressive ataxia by her neurologist. We now know that the ataxia cause by her CASK mutation will not be worsening.

This also told me that it's not my fault. There is nothing I did to cause my kid to be autistic. This is a random genetic mutation ("de novo"). She didn't even inherit it from one of her parents.  I can also stop thinking that my appendicitis, appendectomy, and all the teratogens that came along with the procedure and healing in the middle of my pregnancy had anything to do with Daisy's neurological problems. Not that I could have kept that appendix around but it sure was an easy thing to blame...

So that's it, Folks.  We finally have diagnosis for both of our children.  It seems strange and cruel in the least to know that one family has been affected by so many genetic conditions but there is something so freeing about having a name for what has caused such turmoil in our lives.  Labels aren't always a good thing but sometimes they're just what we need in order to come to terms with our reality.

So, let me introduce to you my two beautiful daughters: Daisy who has a CASK mutation, and Aria who is living with Fanconi Anemia.

Thursday, March 27, 2014

I Do Exist

I'm writing today because for the first time since December I am not completely overwhelmed by our medical travel schedule. Aria and I got home from Pittsburgh late last night with the excellent news that we don't have to return for another 3 months as long as everything goes well. That's not to say that everything is going great at this point but we are finally moving in the right direction.

Aria had her transplant in December and it went remarkably well. She healed slower than your average child would and we did have to use some systemic (rather than topical) treatments to help her heal but, for the most part, everything went off without a hitch. We continued our weekly trips to Pittsburgh (sometimes Akron if our PA physician was not available) and everything was going great.
We learned her eye is the most beautiful shade of blue
In the middle of this, I was driving on the interstate and some uninsured chick lost control of her vehicle, hit my SUV and sent me head on into a concrete wall. Fortunately I was alone in the vehicle and was the only one injured but my car was oh-so-totalled, my face and arms were oh-so-jacked-up-by-airbags, I got a ride in a gurney and an ambulance, and I'm pretty sure my spine will never be the same. I've resigned myself to the fact that my right arm is just always going to be a little numb, my head is always going to ache, and I'm going to always want to die about four hours into every car trip from neck pain. Having Aria around keeps me from complaining too loudly about this. Plus, I got a sweet new ride out of it all (shout out the Kevin for that one) so it's not all bad. Public Service Announcement: Get your uninsured motorist coverage, folks. It's so worth it. 

I took to taking these Road-Trips-Make-Me-Want-To-Die selfies.
In February Aria needed to have her stitches from her transplant removed and at the same time a muscle surgery to correct her turned in eye was performed. This should have been a very easy procedure...and, for some reason that only Aria's little body knows, it was a frickin' disaster. Her eye was swollen shut for about a week after the procedure but she was eventually able to open it and we got to watch her see WITH GLASSES to improve acuity for a day or two before it swelled shut again. We began switching up meds and would go through a cycle of being able to open her eye briefly and then having an extreme reaction to her topical medication. We'd switch the medication and repeat the vicious cycle again. We've been through some rough times with Aria but never have I seen her so chronically agitated or requiring so many comfort meds.

There were some really rough days
...but other days Aria just smiled her famous crooked smile through it all...

The hardest part about this is that we knew that with her new glasses she was seeing better than ever, was busier than ever, was more engaged than ever, and was happier than ever...but she couldn't open her eye most of the time.

The first time Aria could open her eye AND wear glasses was amazing. Unfortunately her eye swelled shut a little over a day later.
The world was a bit confusing at first...
...but then she decided she liked what she was seeing.
After about a month and exhausting all possible topical solutions, opthalmology got permission for hematology oncology to do systemic meds again. We are currently in the process of trying to find a STERILE compounding pharmacy that can create a specialized eye drop for Aria since systemic meds are truly a last resort for a child like Aria. This has proven to be an impossible task up to this point. Ridiculous doesn't even begin to explain it.

The good news is that, with the systemic meds, the swelling is down in Aria's eye. She is wearing her glasses and is enjoying the world through one eye with a small field of vision. She is learning to see better every day. She is smiling at Kevin and me. She is beginning to reach for toys. She is staring at her surroundings and and being all "You guys. Why didn't anyone tell me these things existed before?" She's like an infant learning to see the world and watching that happen for a child who we were told by the Big Fancy Hospital was completely blind and nothing could be done about it has been equally awe inspiring and validating.
For Aria, road trips are now all about seeing what's going on out the window.

...and when she sees Mommy or Daddy approach, she smiles so big that her eyes can't stay open...

...and even though she knows she looks FIERCE in her glasses...
...she still refuses to wear them at times. Just like a typical three-year-old.