#You know we have years of experience with being infantilized right? Just because you sanitize it and put it in a ‘oh it’s a compliment!!’

[corset]

People when the reality hits them that being autistic isn’t just fun weird quirky disorder but actually means I need accommodations and am mentally and physically disabled due to many of the ways it manifests with me specifically and my needs and that sometimes those things aren’t palatable enough for them or don’t fit into the category where they can just laugh it off and brush it under the rug like “haha he’s just like that sometimes isn’t it soooo cute”

[journeywithmadeline]

World Rare Disease Day 2K17

World Rare Disease Day is the last day of February each year.  What makes a certain disease classifiable as “rare”?  The primary criteria is that it impacts less than 200,000 people.  Typically 80% of rare diseases are caused by “faulty genes,” meaning somewhere in this individual’s genetic makeup something went awry.  Thanks to a battery of genetic testing, we isolated Madeline’s “faulty gene.” Hers is c.814C>T and is located on her DCX gene on one of her X Chromosomes.  Essentially, while Madeline was becoming Madeline all snuggled in my womb, one of her C nucleotides converted to a T nucleotide (quite randomly) and coded for a “stop” codon.  This caused her neurons to stop migrating fully while her brain was developing and–voila–her congenital brain malformation was created.  This literally could have happened to anyone in the general population.  We won the proverbial genetic lottery.  It’s actually rather amazing more genetic conditions do not occur.  It just so happened that Madeline’s mutation coded for something substantially earth shattering.

Additionally,  persons who are diagnosed with a rare disease or disorder often: 1) are young children or infants when they are diagnosed; 2) have devastating health conditions or problems; 3) oftentimes have difficulty in getting a CLEAR diagnosis; 4) experience a very limited availability of information on their condition; and 5) learn there is limited or no treatment options (i.e, there is NO CURE).  We have experienced all of these with Madeline, who was diagnosed at 6 ½ months of age on March 28, 2013, with lissencephaly pachygyria and intractable epilepsy.  They suspected in March 2013 that Madeline also had “subcortical band heterotopia,” but we did not have that diagnosis confirmed until August 2013.

I wanted to spend this World Rare Disease Day (WRDD) reflecting on what this diagnosis has meant for us; how far Madeline has come; how far we have come; that doctors don’t know everything; and that each condition/disease/disorder can impact each child differently; yet, our children's resilience in the face of such adversity is truly the stuff miracles are made of.

I can still remember Madeline’s D Day (“Diagnosis Day”) like it was yesterday.  Most families remember their child’s D Day because it is permanently etched forever and always in that loop you play over and over in your memory; it’s that moment that forever changed the course of your life.  It’s when your life took a derail that you had no control over, and you just sat there watching, shell-shocked.  It is something you can never forget: your tiny, tiny child in such a big hospital bed; the smells of the hospital hand sanitizer; the doctors and nurses coming and going, just giving you veiled answers and blind assurances of “everything is going to be alright”; the incessant seizing of the 13 lbs baby you want so desperately to just pick up off the bed, but they won’t let you because there are too many cords and IVs and sensors that will freak out if you do.  We went into the hospital with one child and came out with a completely different one.  We went into the hospital typical parents and came out “special needs parents."  Madeline spent her first Easter holiday in Mary Bridge Children’s Hospital, having dozens of seizures a day, nearly zombified from the mix of seizures and seizure medication.

We spent 8 days in the hospital right after Madeline’s diagnosis.  it took about 36 hours to get a diagnosis, and another 4-5 days to get her seizures calmed down enough to even talk about being discharged, and then because we had a 6 ½ month old in the hospital for so long, she developed a fever which prevented us from going home.  Then, once we were home, her seizures were not well controlled.  We came to learn in July 2013, that Madeline was in the 5% of girls with subcortical band heterotopia that also has infantile spasms (IS), which is a very dangerous, chaotic, destructive form of childhood epilepsy.  IS occurs so deep within the brain, that every time there is a discharge of seizure activity, it has the capacity to irreversibly damage neural pathways.  While Madeline was having IS, she regressed developmentally from a 6 month-old to newborn status. 

In the last 4 years, we have had 9 EEGS.

In the last 4 years, Madeline has been on the following anti-seizure medications: Keppra; Sabril; ACTH; Zonegran; Phenobarbital; and Lamictal.  She also has emergency medicine that we have to give to her rectally to stop a seizure that 1) lasts more than 2-3 minutes; 2) clusters with more than 3 in 15 minutes; 3) or if she appears to be going into respiratory distress.  In the last 60 days, Madeline has received her emergency medicine 3 times.  Prior to that, Madeline had received her emergency medicine 2 times in 2 years.  Now that she is 4, her seizures are getting to be more dangerous. She is losing consciousness; she is going into respiratory distress; and she is now having grand mal seizures, which she has not had prior to December 2016.  She has even had to be taken by ambulance to the hospital due to her seizures.  Helpful hint: not all seizures are grand mal seizures.  I have included a helpful chart below.  Prior to December, most of Madeline’s seizures were absence or simple-partial.

Even through all of this, Madeline is able to fight through the fog, as I call it.  Her doctors tell us that her brain is constantly exhibiting abnormal activity and she has never had a normal EEG despite being on daily anti-seizure medications for 4 years.  Immediately after D Day, we enrolled Madeline in early intervention therapies and have continued those to this day.  We started with physical therapy and occupational therapy.  Now, she has speech therapy, in addition to PT and OT.  Madeline also attends developmental preschool 4 days a week, where she is immersed in an educational program with children who are "typically developing” and with children who are also on an IEP just like her.  Truthfully, apart from Madeline, I cannot tell who’s who, which I am pretty sure is the point. :)   Madeline’s developmental level is hovering around that of a 2-year-old.  She sat unassisted around 9 months of age.  She started crawling at 15 ½ months.  Pulling up to stand around 19 months.  Cruising around 22 months.  We got her first gait trainer around Christmas 2014 when she was 25 months old.  She took her first independent steps in June 2016, at a little over 3 ½ years old.  Now, at 4 ½, her confidence in walking is just out of this world!  She is still more comfortable holding a hand, or going short distances, but sometimes she gets an independent streak and just takes off.  She wears ankle-foot orthotics and always will.  She has very low muscle tone.  She says approximately 13 words: mama, dada, baby, ball, poo poo (for everything concerning potty time), purple (her favorite color), uh oh, wat dat (for what’s that?), whoa, na na (for no no), hi, hello, buh bye.  She signs for: eat, more, please (finally got her to do this one!), all done/finished, waves hi/bye.

Though, I’ve always told professionals where they can shove their statistics, data, and developmental age levels.  I want three questions answered, and only three questions answered: 1) Is my daughter healthy?: 2) Is my daughter happy? 3) Is my daughter loved?  If I can routinely answer: yes, yes, and yes to those three questions then I do not give a rat’s ass if she is meeting her IEP goals or where she falls on a developmental growth chart.  Children are not one size fits all.  They’re not even one size fits most.  Probably, one of the best things about Madeline is her smile.  That zesty, zingy, sparkly toothy grin that makes you smile even when you don’t feel like it.  She really is the stuff that miracles are made of.