Special Needs Spotlight: Isabelle

Isabelle was born in 2 ½ years ago, after what was a totally
normal pregnancy.  We had a 2 ½ year old
son, Eli (who is 5 now) and were so excited for a little girl.  As soon as I got to the hospital to deliver,
we began having complications.  By the
time she was born, the NICU team was in our room waiting for her and she was
taken to the NICU right away and not breathing. 
She began breathing soon, but also started having seizures, so by the
following morning she was transported to the Children’s Hospital. The seizures
left her unable to use her left side and she began Physical Therapy at 14
days.  We soon found out about heart
problems, eye problems, and aspirating.  Physical
therapy was soon followed by occupational therapy, then speech therapy, then
feeding.  She had very low muscle tone
(hypotonia) and very little strength.  By
the time she was a year old we were averaging 30 appointments a month.  A week before her first birthday, I took
Isabelle to see the head of Genetics at Phoenix Children’s Hospital.  At that point we had already gone through a
few genetic tests, and they had all came back negative, so I really didn’t
think he would have anything new to offer. 
Right away he determined that Isabelle had a rare genetic syndrome
called Kabuki Syndrome.  He told us that
there were more medical specialists we needed to start seeing – hearing,
urology, GI, Developmental Pediatrician and a few others, to rule out some
general problems Kabuki kids tend to have. 
He then said 95% of kids with Kabuki are mentally handicapped and that I
should let go of my expectations for her future and prepare myself for the fact
that she may never be able to leave our home.

A lot has happened and changed since that day and from
finding other Kabuki families online we feel much more hopeful for Isabelle’s
future than we originally felt that day. 
We did find out about some health problems we were unaware of with her
kidneys, we were finally able to get leg braces, which helped her start walking
before her second birthday.  We still
have therapy 5 times a week but her health problems have gotten much better, so
currently our biggest concern is developmental delays.  Right now we have a 2 ½ year old who is
resilient, strong, smart, loving and fun and we are just trying to enjoy that!

Heidi:  We knew there were a lot of
health problems from the very beginning, but not until we met with the
geneticist before her first birthday, did we know that this would be life-long
problems.  We never expected that there
would be possible mental handicaps as well and were unprepared for that.  Up until that point, I think we were really
hoping that her health problems would get better and eventually everything
would go normally, like it had with our son. 

Miggy:  Do
you remember how you felt when you first heard your daughter’s diagnosis? 
Can you compare those first thoughts and feelings with how you feel now?

Heidi:  I remember crying so hard over the phone as I
was driving home from that appointment that my mom kept telling me to pull off
the road and stop driving.  My husband
and I cried and for that first month and the smallest thing would leave me sobbing.  There was so little information out there on
Kabuki syndrome, I had no idea what to expect or hope for anymore for her life
and future and I just felt like all the dreams and hopes I had for her had been
taken away.

Now,
I know so much better!  I’m not in the
pit of despair!  We’ve met other Kabuki
families online, as well as other special needs families and I know there is
much more reason to hope then the doctor originally led us to believe.  We hear about Kabuki kids who have gone to
college and done great things with their life. 
We still don’t know what Isabelle’s story will be, but I am so much more
hopeful now than I was before and understand that even if her life doesn’t
follow the plan I dreamed of, it can still be amazing and beautiful.

  

Miggy:  Explain how
your Isabelle’s special needs affects your day-to-day life?
    
Heidi:  The biggest thing for us has
almost always been the appointments. 
Isabelle is such a happy, sweet little girl; she just rolls with the
punches, smiling all the way.  But since
she was about 6 months we have averaged 25-30 appointments a month, which gets
hard, especially when you add in my 5 year old son.  We live in a small town, about 1 ½-3 hours
from Isabelle’s appointments (most of our weekly appointments are 1 1 /2 hours
away, for her major health problems, we drive 3 hours to see her specialists at
Phoenix Children’s Hosp.)  All the
driving, time at appointments, trying to find arrangements for my son while we
are gone or taking him with me, has always been the hardest thing.  At times I feel like we live in our car and I
am very anxious for the day when the appointments will slow down and we will
have more time together as a family doing normal things.  If I tell my son to get his shoes on and get
ready to go, the questions start: Are we going to therapy?  Which Doctor are we going to see?    

Miggy:  What are the
biggest worries you face for Isabelle?

Heidi:  Honestly, there are so many that
I try not to think about them!  If I do,
I get way too stressed out.  In the last
year her health problems have gotten so much better, that now I tend to worry
more about her emotional well being and her life as an adult.  I worry a lot about the unknown – what she
will be capable of as an adult, who will take care of her when my husband and I
die?   I also worry a lot about school and growing up
– will kids make fun of her, will she be included, will she have friends, will
she be lonely?  She has been such a
blessing in our family and such a light in our lives and I always pray that she
will be surrounded by people who love her and see her for the amazing person
she is, not for the differences that there may be. 

My
biggest worry has always been that as her parents, are we doing everything
possible to help her reach her full potential? 
Are we missing something, not doing something, and if so, is that
holding her back?  I just want to make
sure that whatever she is capable of in this life, that we are giving her the
support, help and love to reach that. 
That worry is one that keeps me up at night.

Miggy:  Now
for a lighter question, have you ever had any funny conversations or moments
you never imagined due to your special needs situation? 

Heidi:  There have been so many little
things.  One thing I remember was talking
to the neurologist about Isabelle’s seizures. 
Seizures are not always what the movies make you think and Izzy’s
seizures have always been hard for us to notice.  So the doctor was explaining to me that if I
see Isabelle spacing out, not paying attention and I can’t get her attention,
she may be having a seizure.  And all I
could think was, ‘my husband must be having seizures all the time.’

Miggy:  How
can people best approach or respond to your child? Is there something you wish other people knew so as to avoid
awkward or hurtful situations?

Heidi:  Isabelle is very approachable and
loves interacting with others.  Right now
we are still at an age where many of her differences aren’t particularly
noticeable until you get to know her better, so we really haven’t had to deal
with this much yet. For the most part, to people she seems like a fairly
typical 2 year old.  For me what has been
hard is people assuming that because she seems so typical, that if she is not
doing something, it is our fault.  I had
another parent who knew she had Kabuki syndrome explain to me over and over that
the reason my 2 year old wasn’t walking was because I wasn’t pushing her hard
enough and coddling her too much.  I know
she thought she was being helpful, but overall empathy and concern is appreciated
much more than advice.  And even though
everyone has a friend of a friend of a friend with a weird medical issue,
sharing it with me won’t necessarily make me feel better!  I’ve had so many conversations that start
with, “Well, my friend’s daughter’s friend has a friend with. . . “ and ends
with, “so remember, your situation could be worse!  Cheer up!” 
After spending so much of my week in doctor’s offices and at therapies,
I see children with special needs on the daily basis and know that our
situation could be much more difficult. 
Often you just need someone to listen to you and tell you they care and
are here to help in any way they can, rather than try to make you feel better
by coming up with a worse case scenario!

Miggy:  What
is the biggest lesson you’ve learned since becoming a special needs mom?

Heidi:  That is a hard one!  I think the biggest lesson that I have
struggled with is accepting that Isabelle’s journey may not be the one I had
planned.  I don’t know if she will go to college.  I don’t know if she will ever be married or
have a family of her own.  I don’t know
if she will graduate from high school or be capable of living independently.  Her future is a big unknown. The very first
week Isabelle was diagnosed, I read these words from another Kabuki parent and
they have stuck with me since and sum up the biggest lesson we have been
learning and are still learning.  In
Mira’s mom’s words: “Most
importantly, we are so grateful for our precious daughter who brings us so much
joy. Mira has truly brought so much light into the world and we refuse to believe
that her syndrome is a limiter to her happiness or her abilities. I’m not
naive.  I know that more problems will come as Mira grows older and we will have a steep learning curve each time a problem arises. While she may not take the path in life that we originally dreamed of or expected for her, that doesn’t mean she cannot be truly happy in life or that she cannot achieve her own highest potential whatever that may be. To quote our geneticist, “she is going to write  her own book” and we are so happy to be a part of her story!” 

Miggy:  If
you could say something to the mom who just starting on this journey of special
needs, what would you say?  What would you say to yourself if you could go
back in time?

Heidi:  The journey is going to be so
much more amazing than you thought it would be. 
Your eyes will be opened.  You
will see others differently.  You will
love stronger than you did before.  You
will care about others more and understand their trials better.  Your family will become even more precious
and you will see them for the gift they are. 
Your child will teach you more than you ever will teach her.  Different is OK.  Different can be amazing.  

***************

Hip Hip Hooray!  The spotlight is back!  And what a great way to start.  I want to thank Heidi for this beautiful spotlight on her beautiful daughter Isabelle.  Those big blue eyes and rosy cheeks just about do me in–what a doll.  I loved so much of what Heidi had to say, I especially appreciated her take on not comparing other people’s problems to your problems!  Definitely doesn’t help.  (And good to remember because I’m sure I’ve been guilty of that one before).  My two favorite quotes, “She is going to write her own book” and “Different is OK.  Different can be amazing.”  Words to live by.  Thanks again Heidi!

And thanks to everyone who has written in to be a part of the spotlight–I’m still trying to get to all the emails so rest assured I will get to you as soon as possible.  And if you want to be a part of the special needs spotlight series please email me at thislittlemiggy at gmail dot com.  

Have a great weekend!