Our Journey with Madeline

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Adventures in Seizure Medication

March 27, 2013, was the very first time Madeline was administered a seizure medication.  Within five minutes of being hooked up to an overnight EEG, the neurologist gave the order to start Keppra right away.  Our six-month-old daughter literally had seizure activity off the charts.  Statistically, if a person with seizures responds well to the first anti-seizure medication they are given, they have a 50% chance of their seizures being completely controlled in their lifetime. If it takes 2 seizure medications, then the percentage drops to a 10% chance of having complete control of their seizures. If it takes 3 medications, then the percentage of complete control drops to 3%. It would seem logical that more medications would equal more control. Sadly, that is not the nature of the condition. My sweet Madeline has been on 5 different seizure medications (Keppra, Zonegran, ACTH, phenobarbital, and Sabril) in her short life, which basically renders her chances of complete control to ZERO.  If you count her “rescue medication” of Diastat (a medication that we must administer rectally if Madeline ever has a seizure lasting more than 3 minutes or has 3 back-to-back clusters, or if she ever stops breathing), she has been on 6 different seizure medications.  Unfortunately, there is a finite number of seizure medications out there.  I believe our neurologist said there are around 30 different anti-seizure medications.  Though, some are not suitable for children; some have adverse reactions with other types of medication; some only work for specific types of seizures; and ALMOST ALL OF THEM come with at least one (if not several) undesirable side effect(s).  This is our life.

Towards the end of May 2014, we received the results of Madeline’s 6th EEG.  Yep, 6!  I have pictures from them all.

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We learned that the hypsarrhythmia is totally gone.  This is a great thing because the hypsarrhythmia causes infantile spasms—the horrible, nasty, dreaded seizures that cause developmental regression and permanent brain damage.  It is actually clinically described as being “catastrophic childhood epilepsy” and it is gone!  Yes, it can come back, but we will deal with that if and when we have to.  For now, the horrendous hyps monster is gone!  However, no good news comes without a tinge of bad news.  Madeline has two types of seizure activity on her EEG—focal (also known as “partial’”) and generalized.  In the simplest of terms, focal or partial seizures can be a simple jerk of an arm or leg, lip smacking, etc.  It’s a seizure that happens in just one part of her brain.  Generalized seizures happen all over the brain and the two most common forms are an “absence” seizure (which Madeline has had) where she stares out into space for a while (she actually loses consciousness during these seizures) and the grand-mal all over body convulsion.  When the neurologist gave us this news, I was devastated.  I had not been saddened by Madeline’s condition in many, many months.  I felt absolutely helpless all over again.  No matter how many medical interventions we provide; no matter how many services we engage; no matter how many therapies; no matter how many hopes and prayers, kisses and hugs, laughs and tears; Madeline’s brain was built differently; it communicates differently and it ALWAYS will.  The abnormal activity will ALWAYS be there.  It is a battle of controlling the seizures and not in eradicating them because there is no cure for epilepsy.  There is no cure for lissencephaly.  Her neuro explained the EEG “blips” like this:  Yes, they do indicate seizure (or abnormal) activity; however, just because there is a fault line does not mean there is going to be an earthquake (i.e., seizure).  Madeline is still 11 1/2 months seizure free and going strong!

We started Keppra immediately after leaving our meeting with our neurologist.  We decided on this medication because it is typically a frontline treatment for focal and generalized seizures and it has minimal impact with other medications and the organs in the body.  Little did we know at the time that Madeline was in the 3-5% of children who would have “an absolutely rotten behavioral reaction” to the medication.  Our foray into Keppra and the accompanying “Keppra Rage” was short-lived and we did a fast-paced wean after being on the medication for 11 days.  In short, Madeline tried to repeatedly ram her head through the floor in frustration.  The Keppra zapped all of the B12 vitamins in her body.  Adding a B vitamin supplement to her diet only caused the Keppra to zap her vitamins stores even faster.  She is now back on Zonegran.  It has caused her to be sleepy and has diminished her appetite.  Yet, these side effects are much favorable to a forehead pockmarked in bruises and a screaming, red-faced baby.

Even though, Mads has seizure activity on her EEG, she has still been progressing in her therapies.  We are so excited to get her fitted for a gait trainer this summer!  Her PT has picked out the Rifton Pacer Gait Trainer.  We start her private PT (because the school year is out) the first week of July.  I cannot wait to see Mads in action!

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Her OT is still going really well.  Lots of swinging, hand-over-hand desensitization, and working on going from standing to kneeling and back again.

I have been trying to make a concerted effort to gauge how receptive Madeline is to language.  So what if she has never said a true word in her life and she cannot verbalize that she’s hungry/thirsty/tired, etc.  I believe, and have been collecting evidence, that she understands language.  For example, every night, after dinner I look at her and proclaim, “Bathtime!” and she gets very excited and starts squirming her way up towards the stairs, where she knows her bathtub is.  Another example, look at this video, Madeline is banging a hairbrush on the t.v. stand (she loves making noise—all sorts of noise all of the time).  I correct her when she bangs the brush on the t.v.  She stops doing it.  Then, later, as she wants to bang the brush on the t.v., she looks in my direction to see if I’m watching her, then I tell her no again and she stops.  This, to me, proves that there is so much intelligence and understanding in this little girl.  This, to me, also explains the headbanging.  She is receptive to language and the world she lives in, but she cannot reciprocate communication the way we do, which leads to frustration on her part.

Here’s another example of Madeline interacting with her environment.  She is mimicking behavior she sees socially.  Then, she starts to headbang at one point in the video, after being corrected, she tries to “backtalk” if you will.  It pains me to see her fight so hard with expression in the traditional sense.  On a positive note, how amazing is that belly laugh?!

I wish I had a magic wand and could undo all the hardships befallen my sweet Mads.  I wish I could protect her from all future trials and obstacles.  If I could, I would trade places with her in an instant.  Though, I gotta tell ya, it takes one special super duper tough little cookie to smile through it all.  It warms my heart to no end to call this little fighter “mine.”

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Letters to Madeline, v. 5

Dearest Madeline,

If someone were to ask me to put into words how much I love you, I simply could not do it.  There are not enough words, enough metaphors, enough hours in the day, to explain how my heart feels about you.  I think about you pretty much all of my waking hours.  It’s as if everything I love about everything that has ever existed is wrapped in the most inescapably adorable and irresistibly delicious baby package.  Mads, I could never tell you how much I love you, but I can try to tell you what I love about you.

I love your smile.  It is infectious.  It is perfect.  It is like no other.  It is Heaven on Earth.

I love your hair.  It is probably more appropriate to say I am OBSESSED with your hair.  Your wayward, unruly baby curls that never seem to fall in the same place twice make me swoon every time I see them.  They fit your personality and frame your face beautifully.  I cannot keep my hands off of them.

I love your lips.  They are always the perfect shade of reddish pink.  You are never shy about putting them on anything and everything.

I love that tongue of yours.  Your OT wants you to learn to hold it in your mouth a little more.  But, I think you’re darn cute.  You whip it out when you’re concentrating on something.

I love your chubby baby elbows.  It’s always the perfect spot to sneak a quick peck.

I love your baby toes.  And you do, too!  Ever since you mastered putting your feet in your mouth, you have been obsessed with your feet!

I love that you love animals.  You are not afraid of any of them!  You automatically assume all furry creatures love you.  I mean, why not?!  You’re adorable!  (Also, see reference to putting perfect baby lips on any and everything.)

I love that every time we walk down the stairs at our house, you have to touch the wall.  No matter how many times a day, you LOVE to touch the stucco wall.

I love that you love running errands.  You love grocery shopping, going to Target, getting out and about.

I love that we can take you out in public and enjoy a nice lunch or dinner.  I love how well-behaved you are!  Baby girl, you are a prize.

I love that you love Mickey Mouse Clubhouse!  Watching your face when it comes on in the morning is worth being late to work.  Every time.

I love your personality; that you have your opinions and you know how to express them.  You have no problems getting your point across even though you have never spoken a “true word” in your life (so sayeth the “professionals”).  You are a hoot!

I love your resilience; your zest for life.

I love your strength.  Girl, I held you down while the EEG technician glued 100 probes to your head—you are one tough munchkin!

I love that you love cheese and jelly toast best.

I love that you look good in every single color ever made.  Seriously, there is no color you cannot wear.

I love that you LOVE water.  You are my little water baby.

I love that you always sleep on your tummy with your butt in the air.  You have done it since you were old enough to roll over.

I love that you have an unconditional love for “Sophie.”  She must go everywhere with us.  I don’t know if you have figured it out or not, but you actually have two “Sophies.”

I love that you like to stand when giving hugs and then proceed to climb all over the person you’re trying to hug.

I love that you like to blow on my neck when you place your head on my shoulder.

I love that you will linger with your arms around my neck when you’re just the teensy bit drowsy, or if you miss me just so.

I love that you think daddy’s face scruff is so funny.

I love that you smile first thing in the morning.

I love that when you giggle it sometimes sounds like you’re saying, “Hey, you!”

I love that you like country music best of all.

I love that whenever you see daddy and me talking, or sitting on the couch, you always want to be a part of the action.

I love that you love getting your hair combed after a bath.

I love that you love having your teeth brushed.

I love that the fastest way to get you to play with a toy is for me to express interest in it.

I could keep on going and going and going and going.  Essentially, I love every single thing about you.  You are so undeniably special and I thank my lucky stars each and every day that I get to call you, “mine.”

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Progress Report

The coming and going of Madeline’s one year “lissaversary” has really gotten me thinking a lot about how far she has come.  It’s that time vortex phenomenon all over again—how one year can simultaneously be the longest, yet shortest, 12 months of your life.  When this whole “thing” started on March 27, 2013, we thought we had a fairly typically-developing 6 1/2 month old baby girl.  A violent, terrible, and incessant onslaught of seizures that lasted 3 months (until we got them “controlled”) stole Madeline’s skills and regressed her to a 4 month old developmentally.  Since then, due in large part to her brain malformation and in smaller part to her intractable epilepsy and the 10 weeks of horrible steroid injections, she has worked her booty off to now be 10+ months developmentally (and 19 months actually). 

I absolutely loathe that we deal in numbers and developmental months.  I loathe that I still get weekly emails from those websites I signed up for when I was happily expecting:  “Your 13 month old, week 3.”  I like to think that even among typically developing kiddos there is some variation.  You know, not all 12 month kiddos are saying both “mama” and “dada.”  Comparison is the thief of joy. I know this to be fact.  Whenever I see kids Madeline’s age (or even worse, younger than her), frolicking out in public, learning to ride bikes, communicating with “true words” to their parents, eating with spoons, drinking from cups or straws, or, the dagger to my heart, walking hand-in-hand alongside their mom in the grocery store, sidewalk, etc., I admit there is a lingering ache in my heart for the could’ve/would’ve/should’ve been.  It’s brief; doesn’t last long; and is usually immediately cured with a smile and snuggle from this raving beauty.image

The summer of 2013 was the worst summer of my entire life.  I am not saying this out of hyperbole.  I can categorically say, from the bottom of my heart, that March through the end of July 2013, were the most horrible months of MY ENTIRE LIFE.  Madeline’s last seizure was July 3, 2013, and her last steroid injection was July 17, 2013.  Since then, it has been a steady (some times, inchworm-like) pace upward and onward. 

Due to Madeline’s skill loss, she had stopped smiling; stopped making eye contact; stopped reaching for toys; stopped playing and interacting with her environment.  You other parents out there can attempt to imagine this.  It’s as if someone just turned her light off. The first goal, though, was to get Madeline interacting with her environment again.  Here’s a video of Madeline from July 9, 2013, this was one of her first attempts to deliberately interact with one of her toys.  She was still incredibly heavy from the steroids.

Fast forward to her birthday in September 2013.  She very clearly was obsessed with her birthday balloons, but for some reason, wouldn’t quite reach for them.

Ultimately, Mads got the hang of it and now we can’t keep her out of anything!  Everything in the house is hers.  If it’s hers, it’s hers.  If it’s ours, it’s also hers.  She is very curious and I love to watch and see the wheels in her brain a-churnin’ when she’s manipulating her toys.  She is starting to let us join in her play, which is a big deal because Mads is usually pretty stingy when it comes to her toys.  Here’s a video I took of Mads in a hotel a few weekends ago at a family wedding.  One of the best parts of this video is her laugh!  But, look at her figuring things out and getting involved in her toy.  This is a long way from September!

Here’s another video of Madeline manipulating a big spinning wheel on our neighborhood playground.  I showed her how to do this once.  Just once! 

Another huge area of improvement for Madeline is cognitive development.  Madeline is nonverbal.  Given our difficulty in getting her into speech therapy (and also her diagnosis), nonverbal communication is going to continue to be our primary method of communication.  It is beyond encouraging for us because we were originally led to believe that Madeline would not be receptive to language.  However, she clearly knows cause and effect. She can play peek-a-boo.  She is rapidly learning the meaning of the word “no.”  Here she is playing peek-a-boo at lunchtime.  There’s one part of the video where she starts to bang her head on her highchair.  I tell her to stop and she does.  Frequently, when she starts to do a behavior that we want to discourage, we tell her “no.”  She doesn’t like it; she will poke out that bottom lip, and start to cry a bit, but she stops doing the behavior.

I present to you, “The Lip.”  This was after I stopped her from licking the bathroom floor.

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She can also anticipate whenever Mickey Mouse is about to come and she gets very excited.  You can probably also tell in this video that she is trying oh-so-desperately to say something. Or, at least that’s my perception.  She is turning red from trying to vocalize something.  Gah, it breaks my heart.

When I look back over the thousands (yes, thousands) of photos I have taken over the last year, I am so amazed by Madeline’s strength and determination.  When she was first diagnosed and I was a snotty, knotty, ball of tears and angst and fear, someone very dear to me told me, look at her,  “She’s got this.”  After a little over a year, lots of trials, tribulations, tears, and smiles, I know this much is true—Madeline’s got this.

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Today, I Want to Punch a Wall

I do not condone violence.  But, sometimes … this

I have hit a wall today.  A wall of bureaucracy.  A wall that separates middle America from services their special needs children so desperately need.  On Friday, I had a really difficult conversation with my most favorite therapist (note: it’s really, really difficult to say “most favorite” because they are ALL SO GREAT).  I said, “Look, it’s not you, it’s me. We can’t afford you.  Our insurance doesn’t want us to see you more than 25 times a year.”  Well, actually, our stupid insurance only wants us to see any type of therapist (speech, OT, PT) a total of 25 times a year.  IN WHAT UNIVERSE IS THIS DOABLE?!

So, equipped with this knowledge, I stormed the gates of the local Birth-to-Three Early Intervention program.  The program that is funded by the state; that is paid for with our tax dollars; that is provided WITHOUT reference to income; that is SUPPOSED to be provided BASED UPON THE NEEDS of the child and what she qualifies for.  When Madeline was tested (and they only test the child once—when you’re in, you’re in), she qualified in every single area.  She failed in every single area of development by more than the requisite 25% percent.  She was in desperate need of services.  When I called today to collect upon this promise, I was met with resistance.  Oh, that promise that this process is wholly parent-driven and supported by the needs of the child and she is guaranteed the services she qualifies for is a bunch of horse shit.  It is decided by “the team.”  The team is the group of professionals and they decide what is in her best interests and what she needs.  They decide if she needs speech or OT or PT, despite my proclamations or the proclamations of the numerous other professionals she sees.  I am exhausted.  I feel defeated.  I want to punch a wall.

Oh, and to add insult to injury.  I went online to apply for Medicaid today.  The slower than molasses online system kicked me off repeatedly while I was trying create an account.  THEN, when I finally thought it was going through, it said it was denied because an account in that name and email already exists.  THEN, when I tried to login with the account I supposedly had created, it locked me out of the system because there were “too many attempts” to login with the username and password and it directed me to a 1-800 number to unlock the account I spent all morning trying to create.  ARE YOU KIDDING  ME?  What I wouldn’t give for a paper application right about now.  Today, I want to punch a wall.

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The Business Side of Being a Special Needs Parent

One year and five days ago, we learned that our daughter was born extra special.  We learned that her brain did not form “like it was supposed to.”  In fact, it didn’t quite finish forming.  In subsequent months, we learned through genetic testing that Madeline has a stop codon on her DCX gene on one of her X chromosomes, hence the “banding” in the cortex of her brain.  This malformation causes horrible, horrible epilepsy and global developmental delay  Yet, I digress from the point of this post.  This post is one I have wanted to write for some time.  It is going to expose the underbelly of what every single special needs family goes through; yet, what most do not openly talk about—money.  Every special needs family, on some level, deals with this.  Some more than others and it really depends, in my opinion, on the “severity” of their child’s condition.  In the grand scheme of the lissencephaly spectrum, Madeline was spared.  She is what  is considered higher functioning.  She cannot walk or talk and she will be dependent upon her parents for her entire life, but she can crawl (and has been pulling up with little to no assistance the last few days). She can hold her head up; she can finger feed (but not use a sippy cup).  She is not tube-fed; does not need frequent medical intervention; and does not qualify for respite care.  Based upon her MRI results and her diagnosis, she is classified as disabled—both cognitively and physically.  Given this post is difficult for me to write, I am going to periodically post photos that I love and that inspire me to keep my positive attitude.  All for my Madeline.

We were first alerted to Madeline’s condition, as most parents of liss kiddos are, by the onset of her seizures.  One day, she just started seizing.  A lot.  This bought us an 8-day stay at the most expensive hotel—Mary Bridge Children’s Hospital in Tacoma, WA.  During this stay, Madeline was seen by countless doctors, nurses, interns, specialists, etc.  She had various procedures—a sedated MRI; 24-hr video surveillance EEG; many, many IVs that rotated from each appendage and back again (she had bruises all over her arms and legs).  They administered many different medications.  Each time they did something different, they would scan her medical bracelet.  She was seen by three different neurologists.  Not to mention, Mary Bridge is a teaching hospital, so many different doctors and nurses were always in and out of the room.  A reason for such a long stay was three fold—1) figure out why she was seizing (bingo—the lissencephaly); 2) try to manage the seizures with medication (which took forever because they tinkered with medications over the period of 3-4 days); and 3) she spiked a really high fever on day 4 or 5, which caused more seizures and prolonged our stay.  Long story short, we were discharged with very few marching orders.  Watch for respiratory distress.  That’s it.  We were not connected with services or support groups or anything.  They were hesitant to connect us with the local support group because Madeline was higher functioning and the other parents “may not understand” why we would be in the support group.  Basically, they only wanted to see us if she showed signs of infantile spasms of if she showed signs of respiratory distress.  That was it.  I felt that we were left adrift in this sea of utter and complete nothingness.  That and a bill for $100,000.

Granted, we had insurance.  We did not have to pay the total $100,000.  Only 10% of it, or $10,000.  I don’t know about you, but $10,000 was not just lying around my house anywhere or hiding under my couch cushions.  Not to mention, we had not finished paying off the labor and delivery just yet (she was only 6 months old at this point).  We were not home 3 days before we were right back at the hospital for another overnight which added another $5,000 to that bill.  We resigned ourselves to putting the Mary Bridge bill on a payment plan.  $250 a month until infinity.  We were still paying $250 a month to St. Peter’s Hospital for Labor and Delivery.  That’s $500 total.  This did not include all of the prescriptions we now had to pay—Zonisamide, Phenobarbital, and her emergency medication of Diastat (which is $80 per dose and they only give you two tubes at a time).  The first month at home, we used her emergency meds 3 times (or $240 worth of medication).

Around 7 months of age, Madeline was diagnosed with infantile spasms.  The worst form of childhood epilepsy.  It can cause irreparable brain damage if left untreated.  It is devastating.  We had to have an EEG to confirm the IS.  Every EEG we have costs us, out of pocket, $1,000.  We have had 5 EEGS, which has added $5,000 to the Mary Bridge bill.  We faithfully pay the bill every month and every time we have an EEG, it shoots the balance right back up.  Every time we see Madeline’s neurologist, he charges $900 for an office visit, which costs us $250 out of pocket.  Add a few ophthalmology appointments, GI appointments, etc. into there and it’s absolutely outrageous.  We, last summer, paid off the St. Peter’s Labor and Delivery bill.  We scrimped and saved $1,800 and paid it off.  Around this time, Madeline started attending private therapy at St. Peter’s.  It used to cost us $30 per session.  She was going weekly ($120 per month).  The problem is, St. Peter’s did not send us a bill until Madeline had been going for nearly 4 months.  We did not have an extra $500 lying around to pay the St. Peter’s bill.

In November, my husband changed jobs.  He went from working for the County to working in private practice.  Obviously, our benefits changed and our insurance became pretty crummy.  We paid off the St. Peter’s bill, again, just in time for private therapy sessions to jump to $200 out of pocket.  To offset the cost, we regrettably had to scale back and now Madeline goes every other week instead of once a week.  She still has therapy through her Birth to Three Early Intervention with the local school district, but private therapy is killing us financially.  In addition to all of the standard medical prescriptions and doctors’ appointments and therapy appointments, there are “specialized” medical costs that we also have.

These Ankle Foot Orthotics, with insurance, cost $350.

This SPIO Compression Vest, with insurance, cost $680. (Yes, you read that correctly, $680.)

This is the infamous ACTH steroid injection gel.  This vial is approximately one week’s worth of medication and it is not covered by insurance.  It costs $23,000 per vial.  Yes, $23,000 per vial.  For illustrative purposes, that is the earbud to my iPhone headphones. I wanted to show how small the vial is.  Without a grant from the National Organization for Rare Diseases (NORD), who provided this medication to us for zero cost, there is no telling what state Madeline would be in medically.  I believe it helped save her life.

This is Madeline’s Sabril medication.  We had to fight tooth and nail with our insurance to cover this medication for her.  Our insurance decided they would cover all but $400 of it.  We, obviously, cannot afford $400 a month for this medication.  SHARE (Support Help and Resources for Epilepsy) qualified us for co-pay assistance and they pay our entire co-pay for us, which means we have no out-of-pocket costs for this medication.  Madeline has been seizure-free since July 3, 2013, the date of her first dose of Sabril

In sum, my husband and I have had numerous talks that we are on a bullet train headed straight for bankruptcy.  Though our daughter is undeniably disabled.  We have been denied Social Security Disability because we make too much money.  We have been denied supplemental health insurance through the State because we make too much money.  Honestly, though, we do not make too much money.  Yes, we are both salaried, but what we bring in each month is rapidly being outnumbered by what is going out each month in obligations.  We have student loans, a house payment, car payments, all of the expenses that all parents with children have—daycare, food, clothing, etc.  There really is no end in sight.  There is no reprieve or help for solidly middle class families who have a special needs child.  In addition, we have dreams for our family.  Buying a bigger house.  Expanding our family.  We want more children!  We want Mads to be a big sister!  Yet, this is not our reality.  I knew when I was pregnant with Madeline that any hopes, needs, or wants I would have for myself would now and forever become solidly secondary to any hopes, needs, or wants of Madeline.  I was okay with that then and am more than okay with that now.  It is what being a parent means.

Everything I do, I do for her.

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Miss Independent

I apologize for the horrendously long lag between this post and the last one.  Alas, life has swept us away.  Mads is doing so beautifully and we have been so caught up in her and just enjoying every single moment with her infectious sweet baby self (heck, even her baby pouty lip is adorably irresistible!).  I am so hesitant to speak these next few words into existence for fear of jinxing this paradise we have been living in with our daughter, but it’s just too amazing to not share.  I dare say we have been experiencing quite a bit of what “typical” first time parents do:

The fits of stubbornness over the days’ most innocuous tasks like getting dressed or getting in and out of the car seat or grocery cart; the unending cuddles and purposeful kisses and intentional reaches for mommy and daddy; the playing with mommy’s hair or daddy’s scruffy face with nighttime bottles; the torpedo-like crawling around the house, investigating every nook she can reach and then whine to reach the ones she can’t; the desperate need to be everywhere mommy is all the time no matter what (even the shower); the death-defying leaps of faith off the bed while changing into jammies at night time; the infatuation with Mickey Mouse and all things Disney; the love for sticky, ooey gooey foods and sweet crispy yummies that she snatches out of my hands with precision and accuracy that professionals thought beyond her condition; the refusal to wear socks;  the banging of cups and toys together to make sounds that she knows will drown out the sound of very critical dialogue of our favorite shows and the look of slight irritation on our faces only serves to encourage her; the squealing to loud noisy music; and tons upon tons of baby smiles and giggles.  In sum, LIFE IS GOOD.

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This kiddo gives the best hugs EVER.  I am astounded at her progress and am so unbelievably grateful to see her personality.  I love that she is opinionated.  Granted, she is nonverbal.  She babbles, but her pediatrician was very deliberate to make sure I knew this was nonspecific babbling and did not constitute language (grrrrrrrrrrrrrr).  However, my daughter and I have learned our own way of communicating and it is working for us.  Who cares if it doesn’t meet the pediatrician’s guide to telling parents their kids are delayed.  Pssht.

Here is Mads at therapy.  Her OT really wanted Mads to work on her head and neck strength, but M was not responding to her OT like she usually does, so her amazing OT switched it up and had M work towards the mirror.  Lo and behold, my vain little pumpky doodle lit right up when she saw the adorable little baby smiling at her.

Mads has also recently added the moniker “Turbo” to her repertoire.  She will take off as fast as her little cute boot will take her, giggling all the way.  Exhibit A is below.

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Differently-Abled

A few weeks ago, I posted about my struggles with verbiage to explain to strangers, or new members of our circle, Madeline’s seemingly “typical” appearance.  It even began when she started having seizures for the first time.  The neurologist and children’s hospital staff did not believe me that my daughter had had 7 seizures in 2 1/2 days.  Because she looks “typical.”  The doctors even said that, clinically, what they see physically does not match her diagnosis.  I’m not sure how I am supposed to react to something like that.  Is it supposed to make me feel better?  That even though my daughter has a life-shortening, unpredictable, incurable, incredibly rare condition, I should somehow be encouraged that she doesn’t look like she does.  Um …

I guess this is another lesson I am supposed to learn on this journey—to educate people that special needs does not have a certain look.  For example, yesterday, my husband and I went to our local bank to start a savings account.  We had to sit at a desk with the banking associate and she asked a lot of questions and Madeline was getting a little restless, so I put her on the carpeted floor to stretch out a bit.  The banking associate said, “Well, she must not be walking yet because I don’t see her running around.”  Enter the conundrum.  I used to just say that she’s “delayed due to her epilepsy,” but I began to feel that this did not do her condition and daily struggles any justice.  She is not just delayed because of her epilepsy.  She is globally delayed in every single facet of development.  She fights tooth and nail every day to maintain balance.  I sometimes fear that she is a prisoner in her own body.  She is not just delayed.  So, yesterday,  I told the banking associate that “she’s handicapped.”  The look she gave me was intense—“but she looks great!”  Well, her “disability” is not external; it’s internal.  I try not to take offense when people say this.  You’re right.  She does look great.  In fact, she’s stunning.  (and those curls are to die for!)

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But, being special needs does not have a certain look.  This morning, as I was perusing the usual support groups, I found a quote that I really liked.  The words “disability” and “handicap” do not come easily from my lips.  It’s tough.  Though, I saw a sign that “the only disability is a bad attitude” and there are no disabilities, just “different abilities.”  This, I like.  Madeline has tremendous ability.  That she works her little booty off to achieve.  I cannot imagine the internal struggle that she faces daily to just do the simplest of tasks.  Here’s a video of her manipulating a spinning ladybug on one of her favorite toys.  This took months of practice for her to perfect.  You can even hear her grunts of concentration as she does it.

Here’s a video from M’s last OT session.  She has on her orthotics, her compression vest, and is being assisted by one of our most favorite therapists.  You can see how difficult it is for Madeline to support herself and to maintain balance (as well as how awesome her OT is!).

All of this to say, that appearances are very deceiving and going forward, I will refer to my daughter as “differently abled” instead of “disabled” because it is important to focus on the ability.  I mean, just look at this little girl.  There is so much vibrant life and innocence in this sweet baby.  I took this video while we were waiting for OT to start.  I want to do whatever it is I can do to protect this sweet, sweet soul.

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Progress Is Progres (No Matter How Small)

It really seems that Madeline has totally bloomed the last few weeks.  Every day, it’s as if she is doing something new, or getting better at something that she has been working on for weeks.  We have cut down on therapy sessions just a tad, but still work with her a lot at home.  Her orthotic ankle braces came in last week and they have helped tremendously.  She despises the act of putting them on (but she royally dislikes getting dressed and undressed period), but once they’re on, she doesn’t seem to be bothered by them one bit.  I secretly think she likes them.  They instantly gave her such a great amount stability and she was able to stand for several minutes on end while supporting herself on our ottoman.

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These little stinkers cost quite the pretty penny, too (don’t even get me started on that).  She can only wear them for at most an hour at a time.  Her physical therapist is concerned about irritation and discomfort on  her sweet little baby feet.  If her feet get too irritated, then it will set back her therapy a few weeks or so while she rests them.  If in 3 weeks, Madeline is not initiating the “stepping” action more on her own, she will have to be fitted for full-blown customized orthotics (ugh, I shudder at the thought of another expense).  Madeline does not have the “stepping instinct.”  We literally have to lift her foot, bend her knee, and place the foot on the ground for her.  This is not surprising to me because every other gross motor skill she had to learn from repetition and muscle memory.  All of this in stride, I sincerely feel that our goal of Madeline taking her first steps in 2014 is becoming closer and closer to being a reality!

Next up for our pocketbooks and our continued foray into specialized medical equipment is this SPIO (Stabilizing Pressure Input Orthosis) compression vest.  Madeline uses it in Occupational Therapy and we finally decided to pull the plug and order one for use at home as well.  Madeline has very little “awareness” of her core/trunk/abdominal muscles.  Her tummy is still one of her lowest tone regions.  The thinking is that the vest will allow her to become more “aware” of her core, engage it, and build up her abdominals (which are crucial for walking).  M also tends to still plank her legs when seated.  She creates a wide base to help her support her upper body, which reduces her need to engage her core muscles.  The vest will hopefully teach and allow her to be more flexible when sitting and to build up that precious baby tummy!  We, of course, decided to go with the hot pink model. :)  [Side note: Are you kidding me with these big baby blues?!]

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Here she is demonstrating the seated position that we are striving for—bent knees.  I don’t know if you can tell or not, but she is actually on a really big platform swing.  Whenever Mads is protesting a particular exercise in therapy (which, depending on the day, is quite often), her OT moves her to the big swing, which magically makes Madeline want to participate.  Since before she was born, this girl has loved the movement!

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Madeline’s feeding therapy has really just exploded these last few weeks.  I was literally stunned to see her manipulating Cheerios.  Fine motor skills are very hard to come by with “girls with bands.”  It makes sign language difficult (not to mention feeding with utensils, writing, etc.), but this video of her grabbing super tiny Cheerios gives me all of the hope in the world for her continued improvement.  Progress is progress!

I took this next video this morning.  In it, you can see three things:

1) How enraptured she is by something so innocuous as my Nalgene water bottle (and Sophia the First on Disney Jr.)

2) The wide stance when seated that I mentioned earlier.  She locks her knees a lot of the time and keeps her legs in a wide “V” shape.  The compression vest will definitely help her develop a stronger core so that she can tolerate a more “natural” sitting style.  Her V-stance is also a balance thing.  This poor sweetie fights to maintain balance in just about everything she does.

3) A gorgeous a head of unruly baby curls that makes me swoon with a tinge of envy every time I see them.

And, finally, the Madsters has been a babbling machine recently!  She babbles all the time.  It is such sweet music to my ears.  Sure, I wish she was saying “mama,” but I guess “dada” is okay, too.

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2014: The Best Year Yet

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This is going to be a great year.  I just know it.  This time last year, I was still transitioning back from maternity leave and the Christmas holidays.  The new firm at work was getting off the ground and I thought I was barreling down into the afterglow of the rest of my life.  I had a happy, healthy baby girl, a job that I loved, a doting husband, two awesome puppies, and a life that I was happy to live.  Now, I have two of those things, but am working very diligently on a third.  Madeline is happy.  She works her sweet little booty off day in and day out.  We try very hard, everyday, to give her every single thing she needs to succeed.  But, she is not healthy.  That is a reality that I have accepted.  I still love my job.  It was the place I went when my world crashed down around me; it was the place I went to find Meredith.  I still have a husband whom I love incredibly.  To be brutally honest, this has not been easy on us.  As individuals, but even more so as a couple.  The divorce rate among special needs families is 80%.  We are doing what we need to do to prioritize our relationship; to support one another; to be a united front against whatever comes our way.  But, this is tough work.  No “ifs,” “ands,” or “buts” about it.  We no longer have our two pups.  It was the best decision for us to send them to their new home where they are loved unconditionally, spoiled rotten, treated like the kings they are, and, best yet, they still have each other.  That is not to say, that I do not miss them something fierce.  They were our first babies, but the bottom line became that they were no longer a priority in our crazed, hectic lives.  Now, about that life I am happy to live.  This is a work in progress.  Most days, the three most important aspects of my life are diametrically opposed—lawyer; mother; and wife.  I have had to make sacrifices in all three areas at the expense of the other two.  Madeline is still the most beautiful and important thing that has ever happened to me.  I think of her constantly.  I want more than anything for her to have an unbelievable quality of life.  Yet, if given a chance to not choose this life, I would not.  In a heartbeat.  I would never wish this journey on my worst enemy; though, I have learned much more than I could ever put into words and I surely believe that I am a better person because of this life.  Madeline is undeniably special.  I knew it when I first laid eyes on her.

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Madeline’s therapists have decided to scale down just a titch in her routine.  Therapy three times a week is a lot for anyone, let alone a nearly 16 month old baby.  She is getting burned out.  We made the decision to cut her therapy to 3 times one week, then two times the next week.  She will have every other Friday off of occupational therapy.  We are also reigniting the push to get Madeline in orthotics.  She cannot stand very well.  At all.  She locks her knees and severely pronates her feet.  The locking of the knees, however, is due a lot to her severe pronation, which she does because of her low tone and weak ankles.  She needs more ankle support.  We should find out in the next few days when she will be fitted for her AFOs (ankle foot orthotics).  They will look a lot like this:

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Madeline’s eating has really taken off!  She expresses such great interest in whatever her dad and I are eating.  Crackers are her new favorite thing—Ritz crackers; soda crackers; graham crackers, etc.  She also surprisingly likes limes and, not so surprisingly, loves bread and carbs (like her mama!).image

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And she’s still continuing to drop her steroid weight.  She lost another half pound and is doing great.

The finger feeding is something that we are still working on.  I try not to hand her the cracker directly and place it on her highchair tray to get her to reach for it.  Her fine motor skills are still a work in progress.  She mostly bats at her toys, or “corrals” her food, but with each piece of food getting smaller and smaller, she is improving at finger feeding.  Still no “pincher grasp,” though …  Here, you can see her navigating a huge bin of Legos and she “corrals” them.

With her toys, she bats at them as well.  She is very, very, very particular with her vanity that Santa brought her.  She does not, under any circumstances, like for the pieces to be in their rightful places.  She immediately, without hesitation, bats them out whenever I put them in there.  You will notice in the video that she has a difficult time grabbing the thin bracelet out of its holder.  Part of this could be vision related (as in depth perception), but most of it is fine motor skills-related.

One thing for certain with this little girlie is she has personality out the ying yang.  She is truly something else and I know this year has big (HUGE!) things in store for her (and us!).

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But, She Doesn’t Look Special Needs

I get this comment quite a bit, “She doesn’t look special needs.”  WHAT THE HECK DOES SPECIAL NEEDS LOOK LIKE?!  I used to take great offense to this. Back when I was watching my daughter seize over 100 times a day despite being on 2-3 anti-seizure medications; back when I had to helplessly witness her losing skill after skill; back when I was getting zero sleep at night; back when I was mourning the loss of the daughter I thought I had been given; back when I was a walking ball of tension, frustration, anger, and depression; back when I was still meandering down my path to acceptance. 

Now, I see it as an opportunity to resume my role as an educator.  A big part of the lives of special needs parents is to educate—family, friends, teachers, therapists, providers, etc.  When we were in the hospital that first week, one thing a young resident doctor told me that I have never forgotten is, “Pretty soon you’ll be the expert in your daughter’s condition; no one will know as much as you do.”  And, it’s true.  To be an effective advocate for your child, you have to be willing to be an educator.  You would actually be surprised at how many medical professionals have never heard the word, “lissencephaly” before.  I usually have to spell it for them and then explain, as briefly as possible (which is difficult), what exactly it is.  Don’t even get me started on subcortical band heterotopia.  It’s even rarer. (I think someone told me that there are only 200 known cases in the United States … not sure on how entirely accurate that figure is, but I do know it is incredibly rare.)  I have given the spiel so many times that it often comes off pretty robotic.  I have said the words, “very rare congenital brain malformation” so many times that I can now say it without even the hint of emotion.  For the new person, they tend to be shocked that I can say something so “heavy” practically devoid of emotion.  I think, though, it is just a testament to my acceptance.  It took a while to get here, but I do accept my daughter’s handicaps.  That doesn’t mean I have to like them (in fact, I abhor them), but I accept my daughter, who she is, and I accept her disability.

It’s a little more difficult to be an effective educator when we’re out in public.  We get a lot of comments by admirers, “Oh, she’s so cute! How old is she?” 15 months.  “Oh, I bet she’s just getting into everything and running all over the place!”  Well … um … she’s not yet walking.  “Pulling up?  Cruising?”  Um … nope, not yet.  “Oh … “  Then, I politely say, “she’s handicapped.”  Or, “she’s delayed due to her epilepsy.”  That seems to be a lot easier to digest when someone is asking a complete stranger something so personal.  Sure, when I’m pushing Mads around in a grocery cart and she’s smiling and giggling, she doesn’t look like she’s any different than typical babies her age.  But, she is. 

Something that seems so simple as sitting in a baby-sized chair took weeks to accomplish.  Yesterday, though, she sat in her little therapy chair like she had been doing it all her life.  Before, she would lock her knees and had difficulty maintaining balance without more support. 

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The toy pictured above goes everywhere with us.  Some babies have security blankets or security “lovies,” Madeline has a security “iPod.”  Santa brought it last Christmas.  It plays music.  It lights up.  It is the first thing she looks for when she wakes up in the morning.

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It even went wine tasting.

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This is the look she gives whenever I try to take it away to get a decent picture in one of her Christmas outfits.  It is a meltdown of epic proportions.

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I digress.  The last few weeks of therapy have been amazing.  It’s as if Mads wants to show off every single session.  She is doing something new just about every week.  Here she is working out on a ball (while learning to high kneel).  We had no clue she could do this.  She just did it.

Yesterday, in therapy, she really took the new swing her OT set up for her.  It was to help with her core strength (which is coming along now that she’s crawling) and to strengthen her shoulders and neck.  She did marvelous!

This therapy rockstar is getting well-deserved two week hiatus.  Then, we are all looking forward to the new year.  I think amazing things are on the horizon with this little fighter.

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c.814C>T

Yep.  c.814C>T.  This is Madeline’s “mutation.”  It has a name.  It has a location.  It has a meaning.  An awfully long story short (and whittled down to its barest bones), one of M’s “Cs” in her DNA sequence turned to a “T.”  DNA is made of four nucleotides: G, A, T, and C.  On M’s DCX gene, on one of her X chromosomes, one of her little “C” nucleotide turned into a “T” nucleotide, which caused a “shortened protein” or “stop codon” (to be very specific, it caused the p.ARg272Stop to form instead of another protein).  Instead of continuing the DNA replication process, Madeline’s little ribosome stopped coding.  It left her with a mutation on one of her X chromosomes, which caused her double cortex syndrome.  Had the mutation been present in both of her X chromosomes, she most likely would not be here today.  Because she has that “backup copy” of her DCX gene (on the non-affected X), she has subcortical band heterotopia. 

The Wednesday before Thanksgiving, I spent quite a few hours in the car and waiting around the children’s hospital to learn this little tidbit of information.  We are very fortunate to know precisely, with as much certainty as the field of medicine allows, why Madeline is the way she is.  The likelihood of me being a carrier is negligible.  The doctor’s favorite theory, which will never be entirely ruled in or out, is that I have what’s called “germline mosaicism.”  That a percentage of my eggs carry this mutated gene.  The only way to know for sure is to test every single last one of my eggs, which is not going to happen.  For future pregnancies, we will submit to genetic testing in the first trimester to know if the mutation is present or not.  If I do have germline mosaicism, the mutation will always be the same—c.814C>T.  It will never look any different.  That way, at least, the doctors know exactly where to look.  Blessing and a curse, amiright?!  There are many families in our group that never find out the cause or reason why their little ones were created extra special. 

It has been a while since I last blogged and it seems as if Madeline is an almost completely different baby.  She has grown in leaps and bounds!  At the beginning of the summer, Madeline was hardly able to maintain balance; did not make eye contact; did not engage socially; rarely, if ever, reached for toys; and was basically a hollow shell of her former self.  Here she is in late May (this was her 3rd or 4th week of therapy):

Here she is just last Friday—bookin’ it!  Madeline has been attending therapy 3-4 times a week, most weeks, since April.  Whenever she’s not feeling it, or has a conflicting appointment, we let her take a week off.  Her therapists recommend a break every now and again, too.  When therapy is no longer fun, it’s no longer productive.

Here is a list of a few things that Mads is doing:

- She is smiling and giggling socially!  She used to only smile or giggle when being tickled, or whenever we went out of our way to get a giggle out of her.  Now, she smiles whenever she sees us, whenever she views something as amusing, when she wakes in the morning, whenever she sees her favorite toys.  She responds to smiles with smiles. (And she also resumed her role as “destructo-baby” at the GI doctor).

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- She is eating so much better and more often.  Transitioning to solids has been a long and arduous road.  With a little persistence on my part (and on Mad’s part), she is eating three meals a day with bottles in between to tide off hunger.  She is eating “big people food,” too.  I find I spend quite a bit of my time sitting on the floor in our living room.  It’s where Mads plays and does her thing.  I usually eat my meals there, too (shh, don’t tell my mom!).  Madeline, upon smelling my food, or upon seeing me in her zone, will somehow always come cozy up to me and beg for food.  If I’m not looking, I will eventually feel the softest of little baby hands on my thigh.  I look down, and there she is.  Mouth open waiting for a taste of the good stuff.  The other day, she ended up eating half of my pizza!

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- She loves the baby in the mirror again.  She used to flirt and flirt and flirt with her reflection (ages 3-6 months).  It wasn’t until recently that she has picked it up again.  Her therapy rooms are covered in wall-to-wall mirrors.  Sometimes, they are counterproductive. :)

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- She is in the beginning stages of pulling up!

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There are times when I look in my rearview mirror and see my beautiful baby girl staring right back at me—she has her blanket in her mouth and one sock nearly pulled off—she’s in her own little world. 

It is in the moments of “typical” that I feel most blessed.  If Madeline were just like everyone else, and was not faced with such challenges, I am sure I would have taken a normal life for granted.  In some of my darker moments, I felt robbed; robbed of the promising journey a new mom is supposed to have with her firstborn.  Through this adventure called life, I have learned that there are no guarantees.  No one is promised tomorrow and no one is promised “normal.”  Looking back, knowing what I do now, I am certain I would not change a thing. 

(except maybe the hospital and medical bills —- ouch!)

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Letters to Madeline, Vol. 4

My Dearest Madeline,

Three years ago tomorrow, on your 14 month birthday, your father asked me to marry him.  It is a day I hope I will remember for all time.  I don’t quite recollect the proposal all that much.  I think I was too shocked to absorb anything your dad was saying and just kept staring at my new shiny ring, waiting for the moment when I finally got to say “Yes!”  The next few months, we started planning our wedding. From the get go, I knew what song I wanted to be our song.  I had wanted to dance to this song with your dad at our wedding for such a long time.  However, a few weeks away from our wedding, your dad and I were driving in the car to one of our many movie dates and the song, “Hold On” by Michael Buble came on the radio.  In that moment, your dad turned to me and said “This should be our song.”  I was so thrilled that your dad felt so strongly about the song selection that I relented and let go of my desire to play the song I truly wanted.

Fast forward two weeks shy of our one year anniversary, you came screaming into this world with your big baby cheeks and gangly chicken legs.  From that moment on, I have been completely, totally, and fully wrapped around your preciously perfect little fingers.  It was not until recently that I realized, yet again, that the universe works in mysterious ways.  Given how important the song is to me, it’s no wonder that I did not get to dance to it at our wedding because it so perfectly fits my love for you.  I listen to this song all the time and it causes tears to well in my eyes.  I cannot help but think of you and all that you mean to me.  Though my heart aches to hear you say the words “mama,” I know that you know who I am.  When you reach for me.  When your eyes follow me to the kitchen.  When you smile at me first thing in the morning.  You know who I am.  I may not hear you say “mama” for some time, but, sweet baby girl, I don’t need words to show you that you are my heart and soul; my reason for living and breathing.  

Madeline, this is now our song.  Yours and mine and I forever dedicate this song to you.

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Therapy Works!

One very common trend in the lives of special needs families is therapy, therapy, therapy, and more therapy.  Pretty much the day after Madeline was diagnosed, the groundwork was being laid to get her into as many therapy sessions as possible—physical, speech, occupational, feeding, early education, etc.  There are times when I resent the strain (financially, timewise, stress-wise) on our family.  I never resent Madeline or her specialness, but I get exhausted sometimes with all of my added responsibilities.  I accept Madeline and the beautiful gift that she is, but that doesn’t mean that I have to accept or like her condition.  In fact, I abhor the fact that lissencephaly exists and that all of the families and kiddos I have met along the way have to know the ins and outs of this crummy condition.  It sucks.  I truly believe therapy has helped Goo baby progress.  The therapists work with her weekly and then in our spare time, usually when Mads is playing on the floor, we work with her some more.  Madeline’s brain does not allow her to do the simplest of movements that come so naturally to other kids.  She has to learn from muscle memory.  Even then, her balance is always a little off kilter.  Madeline has been working on crawling for months now.  She is so very close.  The problem is that crawling requires both hemispheres of her brain to communicate with each other.  This is quite difficult given her banding and brain malformation.  

Here is a recent video of the Mads.

I don’t know if you can tell in the video or not, but Madeline keeps her hips pretty wideset when on her knees.  This is not a good thing as it does not help her engage all of the muscles she needs to strengthen her core and legs.  Typically, when working with her on the floor and in therapy, we get behind her and hold her knees together for her.  But, she is still having difficulty keeping them together on her own (weak hip flexors).

Just recently, her therapists decided to recommend “hip helpers.”  Little biker shorts for babies to help them with their hip flexors.  The middle of the shorts is tighter than normal and connects the legs with a thick band of fabric, which does not allow the hips to spread out.

Here is a video of a little girl showing them off.

You just slip them on right over the clothing and they keep the kiddo from “bullfrogging” their legs.  This is actually a pretty common phenomenon with the liss kids.

Feeding therapy has also been going quite well.  She is eating a more diverse array of foods.  She always, always, always expresses an interest in whatever we are eating.  Her therapists recommended just letting her have it.  Eating is also a social activity for babies.  Now, we put M in her highchair whenever we have dinner and let her partake in our food.  Just last night, she ate half of my pizza!  She definitely loves more savory flavors (last night’s pizza was garlic based).  We add curry powder, cumin, and cinnamon to her pureed baby foods just so she will eat them.  

She loved that Oreo!

She literally ripped this piece of pizza out of my hands and shoved in it in her mouth.

She has also been doing much better with a sippy cup and holding her own bottle.

At the end of every therapy session, I experience such an overwhelming sense of pride and admiration for my darling M.  She works her bootay off!

Though Madeline is still very much behind her peers, she is making progress on an exponential scale.  This is Madeline’s most recent evaluation.  It represents two Bayley tests performed 5 months apart.  The last little dotted line is the 5th percentile.  She is clearly below it.  Yet, her teacher wants us to focus on the sharpness of her trajectory.  It’s almost a vertical leap!  It’s also certainly sharper than the “typical” trajectory.

I think what I take away most from this graph is how amazing little M is.  All of that strength and resilience bottled up in one adorably cute package.

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Metamorphosis

It becomes more and more evident each and every day how undeniably special Madeline is.  All it takes is a look to elicit the sweetest, most perfect baby smile from her.

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This is a far cry from the torment we all experienced this past summer—the crying; the complete and total lack of response/smiles/eye contact; no interaction whatsoever; the constant whimpering.  We are almost halfway through the weaning process of phenobarbital.  We wean 1.0 mL every 10 days.  She started at 7 mLs and tonight will be her first dose of 4 mLs.  By the way, have you ever tried to give a baby 7 mLs of anything?  Let alone medicine that smells and tastes like rubbing alcohol?  And it stains everything red!  It’s a difficult task to say the least.  It seems every time we thought we had “tricked” her into taking her medicine somewhat easily, she flipped the script on us.  

I have taken hundreds upon hundreds of photos of Madeline during her first 13 1/2 months of life.  I was flipping through them recently and have noticed such a dramatic change her in since stopping the steroid injections.  When she was at her heaviest, it was hard for me to imagine her without the chronic acne, wheezing breaths, waxy skin, and greasy hair.  She was beautiful to me then, but, now, she takes my breath away.  I also love to compare the before, middle, and after of her journey.

This picture was taken before Mads started injections.  She had been diagnosed with infantile spasms, but we were waiting for her upper respiratory infection to clear up before starting the injections.

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This photo was between 1 to 2 weeks into injections.  She already started to plump up a bit.

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This was 2 1/2 weeks into injections.  She was opening her eyes more than she had in a very, very long time, but you can still see the haziness and hooded eyes.

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This was about 3 weeks into injections.  Look at those cheeks!

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This one is about a month into injections. Her skin was tightening from all of the swelling.  You can see it in her arms and legs. You can also still see the hazy eyes and lack of eye contact and awareness.

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At this point, we are about eight weeks into injections.  Notice the acne and waxy skin.

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At this point, we had begun the weaning of the ACTH because it was not entirely effective.  Even though the amount of steroids she received each morning was going down, her symptoms still increased.  The shirt she is wearing is a size 2T.  She was not quite 10 months old in this picture.

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Here, we were giving her a minimal amount of injections still, but I remember this being one of the first times in many weeks where I got to see a hint of her beautiful baby neck.

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Madeline’s weight really impacted her ability to have productive therapy sessions.  She spent a lot of time on the balls because she could not tolerate tummy time.

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Finally seeing some more baby neck!

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Here, she is finally able to support her own weight (with a little help from her therapist).  Before, at her heaviest, she could not do this.

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Her smiles came back!  We had finished the injections at this point, but she was still experiencing the symptoms.

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Doing much better in therapy.  She was able to move her body a lot more and with less assistance.

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Two months ago, this face made me tear up.  She literally took my breath away.

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The weekend before her 1st birthday, she really started to look like herself again.  This was a little over two months after the last injection.

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This photo was taken last night.  She really has come full circle.  She is aware.  She is alert.  She is engaged and discovering new things.  The transformation is remarkable.  I mean, look at that glimmer in those eyes.  She is present and it’s a beautiful thing. <3

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Every Silver Lining Has a Hint of Grey

It’s been a busier than normal week in our world.  Whenever I think that we are finally in a routine and are swinging right along, we get to add more to the mix.  More emotions, more therapies, more information.  I am so thankful that Madeline’s sitter helps with getting Madeline to some of her therapies.  Otherwise, I would probably be working late nights and both days out of each weekend (instead of just the one) to make up hours and to finish my seemingly neverending list of “to dos.”  Currently, Madeline has Early Education on Wednesdays, Physical Therapy on Thursdays, and Occupational Therapy on Fridays.  Throw in the checkups and appointments with her pediatrician, neurologist, geneticist, and ophthalmologist and you have one busy mama!  Now, we are adding a GI specialist and nutritionist into the mix, as well as enrolling Mads in intensive speech therapy.  So any free time I might have eeked out here and there is now a pipe dream.  I keep telling myself they don’t call it a “labor of love” for no reason.

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Madeline had her first consultation with the GI specialist and nutritionist today.  All of Madeline’s specialty appointments take place at the children’s hospital that is 45 minutes away from our house, which means these appointments take at least a half day out of our schedules.  We try to double book them as much as possible, but that puts a lot of strain on the Goo baby.  Thankfully, her weekly therapies and education are local.  During M’s evaluation with the GI specialist today, he indicated that she has “low tone.”  This is a phrase I have heard frequently in our liss community, but it was the first time a doctor used it when examining her.  Madeline is “low tone” in her abdominals.  It’s kind of a Catch-22 situation.  She has difficulty balancing, does not crawl, does not cruise, does not pull up on things.  If she currently did these activities, she would not be “low tone,” But, she cannot do these things because she is “low tone.”  Does that make sense?  The plan here is to continue with therapies and hopefully bridge the gap in her “tone” department.  Balancing, however, will be a lifetime battle with M.  Her brain works against her sometimes.  She has to be very deliberate in her movements, otherwise she topples.  

The GI specialist also thinks Madeline could be aspirating some of the looser pureed foods we give her.  She gags and coughs frequently when feeding.  Thus, he has ordered a swallow study, which is par for the course with her condition.  He also referred us to speech therapy. which will focus intently on feeding therapy.  Initially, we were alternating feeding therapy and motor skill development in Occupational Therapy, now Madeline will be doing both every week.  Right now, I am relieved to not hear the words “feeding tube.”  The doctors believe that Madeline is on the right track and she will get there in her own time.  There are all sorts of fortified formulas and nutritional supplements that we can give Madeline during her prolonged transition from bottle to food.  There is no rushing her.  Though, to keep the motor running, so to speak, we are trying to expose Mads to all types of foods.  I puree some of our food to give her, or give her a spoon to just play with and practice bringing to her mouth, or give her a taste of whatever I’m eating.  Right now, she is not eating enough by mouth to replace any bottle feedings.  I have faith, however, that Inch by inch, she’ll get there. 

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Pictured: Madeline being her own demolition team at the doctor’s office.  She yanked it right off the wall.  I was too proud of her motor skills to admonish her. :)

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Yesterday, we got the call back on Madeline’s genetic results.  Long story short, she does have the DCX mutation.  This means that she has a common mutation of gene they have seen before.  This mutation explains why Madeline is the way she is.  This also means that I am now up for testing.  There are three possible scenarios that could explain Madeline’s condition: 1) That I am a carrier.  This is already being theoretically ruled out.  Given the severity of Madeline’s “banding,” for me to be a carrier (i.e., that every cell of my body carries the mutation), then I would have to be symptomatic on some level.  Yet, I am not.  I am totally asymptomatic.  Further genetics testing will confirm what the experts already think.; 2) That I am mosaic.  This means that I would have a mixed pattern of cells.  Right now, this is the geneticist’s favorite conclusion.  The problem, however, is that we will never be able to definitively confirm or deny my mosaicism.  The sample of blood that they take from me will most likely come back “normal.”  This means squat diddly.  Unless they test every single cell of my body, they will never know for sure if I am mosaic.  It would explain two things if I were—how Madeline inherited a mutation, which tends to be X-linked; and, how I am totally asymptomatic.; 3) That Madeline herself is a brand new mutation.  This is the geneticist’s second favorite hypothesis.  Unfortunately, because we can never know for sure the degree of my mosaicism, we can never prove this theory.  So … where does that leave us?  Well, I will be tested.  We will have the results in 45 days.  Everyone is anticipating it coming back as non-carrier and otherwise “normal,” but with the distinct possibility that I could still be mosaic for the mutation.  We are in the fortunate position that the professionals were able to identify, with certainty, the precise gene that caused M’s condition.  This means that we know what to look for in future pregnancies.

In the meantime, we are focusing on showering Mads with boocoodles of love and affection.  Taking her on “typical” outings.  Socializing her.  Trying our damnedest to giver her a “normal” childhood.

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