Friday, September 21, 2012

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!

Miggy:  As I've learned over the past few months the process of learning that your child has special needs varies--some parents know before birth, others learn at birth and others still don't know until a ways down the road when developmental delays start to become obvious.  Can you tell us a little about this process with Isabelle?  When did you learn she had special needs and when did you get a diagnosis?

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!    


  1. "And all I could think was, ‘my husband must be having seizures all the time.’" Ha ha ha! That was perfect. I loved this spotlight.

    And I love them all. Thanks.

  2. This is amazing! You are a rock star mom Heidi and doing a FANTASTIC job! Thanks for sharing your heart and your beautiful girl's story!

  3. As a mom to a daughter who also has Kabuki Syndrome, I relate so much to Heidi and their journey with sweet Isabelle. It was through you, Miggy, that Heidi and I first "met", and I'm so thankful to follow along with Heidi's family as Isabelle grows and accomplishes amazing things. So happy the spotlight is back!

  4. As Heidi's friend, I see the stress in her eyes sometimes. It is a good thing that her husband is so mellow. That helps to balance things. I realize that the article was about Isabelle but her son is amazing also. I love that family!

  5. Heidi is truly amazing! As is Amy. I'm so glad to know both of you and have been inspired and awed by the journey both of you are on. Is it totally prideful to take some credit here - I think I introduced Heidi to your blog. yes, it is prideful. Sorry, guess I'm human.
    Ann Marie

  6. As Heidi's mother who live 1500 miles away,I have to say you have done an amazing job with Izzy and Eli. I am so proud of you! This article shows your true strength. Love you!

  7. Michelle Ryan11:53 PM

    Heidi, I have goosebumps reading over all your responses. You are such an incredible mom and such an inspiration to me. Thank you for sharing your story. :-D

  8. What an incredible story and honest fire you stir up in me. She is beautiful and so is her mom. I am struck with such a range of emotions with this testimony...Bless you all.

  9. I'm so glad the spotlights are back. I love reading about these amazing families and their very special children. (all of them, including the siblings that have to learn to go with the flow). Blessings to you and to each of the families you've spotlighted and will spotlight in the future.

  10. Great story! Love to see a little Kabuki spotlight.

  11. Oh Heidi, I'm crying! "Different is OK. Different can be amazing." That is what I want my children to learn about themselves and others. I wish I lived near to help with your appointments. Sending far away love from the Jensens.

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