The Program Director at Rett Syndrome Research Trust reached out to me earlier this week to get my thoughts on ‘things I wish I knew the day my daughter was diagnosed’ and I’ve been mulling it over in my head ever since.

What do I wish I knew on that fateful day?

I wish I knew that Rett Syndrome is a spectrum disorder.  The way that it manifests in every girl is different.  Some girls walk, some girls talk, some have meaningful hand use.  Unfortunately, many do not.  BUT one things comes across as very clear for all girls with Rett Syndrome: they are magical, beautiful, funny, and quirky.  People – both young and old – are drawn to them. And most girls are highly intelligent so intellectually, the sky’s the limit.  Bottom line: Never underestimate the potential for your daughter.

I wish I knew that even though my spirit may be broken at this moment, my daughter’s most definitely is not.  My kid is a fighter, a warrior, a princess.  And she’s still the same sweet angel she was the day before.  Falling into a pit of despair is not an option.  And taking your cue from your kid about having a positive attitude is the way to go.  Bottom line: Though you will have your ups and downs, always go back to staying positive.  And if you need inspiration, just look at your beautiful child and feel the love they radiate.

I wish I knew that asking for help doesn’t make you weak. I’m a very independent person and I still struggle with this one.  But what I’ve learned is that you need to take people with you on this journey of yours.  Get yourself a strong network of friends, supporters, advocates.  If they’re not comfortable with your kids diagnosis, they’re not worth having around. It’s easy to insulate yourself from the rest of the world.  But that does you, and your kid no good.  I take Lily out to restaurants, grocery shopping, walks around the neighborhood.  And I’ve built up relationships with the managers, wait-staff of our regular haunts, neighbors to let them know that even though my sweet kid has a hard time with her hands and words, that she understands everything and wants to participate.  I raise awareness about Rett Syndrome and I also ask them to help me ensure that my kid is comfortable, and included. Bottom line: Ensure you and your daughter have a strong support network.

Even a year in, I still have so many questions.  The uncertainty of the future can be crippling if I focus on the potential negative outcomes.  So I do my best to stay focused on the present.  And ensure that I’m prepared for whatever may come (case in point, I’m working with a special needs estate planner to get my Will, etc… in order).

Life is what you make of it.

Inspiration

This post has been percolating in my brain for some time.  You see, I’ve been coming to some new realizations about Rett Syndrome lately and it has been difficult to put words to these thoughts.  And then actually getting the courage to write them down has been even more of a challenge.

So here’s my attempt…

We’re almost exactly a year into this journey called Rett Syndrome.  January 23, 2014.  The day that we got Lily’s diagnosis from the geneticist.  In this year, I’ve been researching, reaching out, fundraising and advocating for my sweetie pie; trying to get her the best care possible, the best therapists, the best school, the best doctors, the best caregivers.  I will stop at nothing for my kid.

One of the first things I learned about Rett Syndrome is that there are four stages.  Here they are listed below, courtesy of the Mayo Clinic:

• Stage I. Early Onset Phase: Starts between 6 and 18 months of age, after what would be considered typical development.  Babies in this stage may show less eye contact and start to lose interest in toys. They may also have delays in sitting or crawling.
• Stage II. Rapid Destructive Phase: Starting between 1 and 4 years of age, children with Rett syndrome gradually lose the ability to speak and to use their hands purposefully. Repetitive, purposeless hand movements begin during this stage. Some children with Rett syndrome hold their breath or hyperventilate and may scream or cry for no apparent reason. It’s often difficult for them to move on their own.
• Stage III. Plateau: The third stage is a plateau that usually begins between the ages of 2 and 10 years and can last for years. Although problems with movement continue, behavior may improve. Children in this stage often cry less and become less irritable. Increased eye contact and using the eyes and hands to communicate generally improve during this stage.
• Stage IV. Late Motor Deterioation Stage: The last stage is marked by reduced mobility, muscle weakness and scoliosis. Understanding, communication and hand skills generally don’t decline further during this stage. In fact, repetitive hand movements may decrease. Although sudden death can occur, the average life span of people with Rett syndrome is more than 50 years. They usually need care and assistance throughout their lives

I’m going to call bullshit on stage 3, which is a supposed ‘plateau’.  I’ve recently seen it called the ‘pseudo stationary stage’.  This is much more accurate from my point of view.  Lily’s doctor says she is likely in stage 3, the ‘plateau’.  It sounds so much better than stage 2, the ‘rapid destructive phase’.  I mean, can we get any more dramatic?

But what I’m learning – both from experience and from parents who are a few years ahead of me on this journey is that this ‘plateau’ is anything but.  I’m not going to scare you (or myself) rehashing the details of what I’ve seen with my own eyes or what I’ve heard from these parents.  But it’s not good.  And it’s a constant battle.  EVERY SINGLE DAY.

Lily is a warrior.  EVERY SINGLE DAY.  She fights and struggles and thankfully she wins most days.  But there are those days, those scary days, when the Rett monster sticks its ugly head out a bit farther than usual.  And it scares the bejesus out of me.

But I refuse to let it get the better of me.  And I most definitely refuse to let it get the better of Lily.  Us warriors, we are going to win this war, and we will fight the battle one day, and many giggles, at a time.

Om tat sat.

warrior princesses