My name is Mikaela, and I am a wife to the most giving and selfless man I have ever met. Our daughter, Isabella will be 5 and our son, Noah is 2 and a half. We live a beautiful life in beautiful Northeastern Ohio, and we are happy. But the journey we are on as a family was not what we had ever planned for.
Isabella has Kabuki Syndrome. It is still crazy for me to see that in black and white. It wasn’t too long ago that we were searching feverishly for what was causing her medical and developmental issues. She was born at 36 weeks gestation, and was the most gorgeous thing I had ever seen; I was instantly the luckiest woman on earth. I had no idea what was coming. But in retrospect, even now knowing what was coming, I still think that the woman who took that gorgeous baby home with her was the luckiest woman on earth. I was, and still am, blessed beyond words. But my baby was sick all the time. Ear infections, bronchitis, pneumonia, rotavirus, hand foot and mouth disease, UTI and kidney infections, viral meningitis, constant croup and reactive airway disease, horrible reflux… the girl was hit with every bacterial and viral bug that came her way. She had trouble gaining weight, was often dehydrated, and had the biggest and most sad blue eyes you had ever seen. For much of the early years of her life, she was miserable. She has spent more days in the hospital, in an emergency room, or in a doctor’s office or lab than I care to think about. When she was about 7 months old it became apparent that something bigger was causing all of her illnesses, because her developmental delays began showing themselves. From the time she was 8 months (July 2007) old until just this past March she saw nearly every type of specialist there is to try to find a diagnosis. There were many hypothesized syndromes, but after 4 chromosomal studies, we couldn’t find any answers. I researched endlessly online: like a basket case, I looked forward to naptime and bedtime and every other type of down time so I could run to the computer and torture myself with possible reasons as to why my baby was suffering so much.
Long story short, her Geneticist finally hypothesized about Kabuki Syndrome in March of this year, and a genetic test came back positive for it in August. Oh, the relief! And Oh…oh, the pain. Kabuki Syndrome is a rare genetic syndrome caused, in most cases, by a sporadic and spontaneous mutation in DNA. The health issues of people with Kabuki Syndrome are variable. Heart and Kidney abnormalities are common, and growth, development, and overall health are generally very poor or delayed, especially in the early years of life. Isabella’s main symptoms are hypotonia (poor muscle tone and strength), hyper-extensible and loose joints, seizures, frequent illnesses, sub mucosal cleft in her soft palate, Pervasive Developmental Disorder (PDD-NOS), sensory integration dysfunction, fine and gross motor delays, speech delay, poor coordination and motor planning, and odd fears and panic like reaction to certain sounds and textures. Every part of her body has been affected by this glitch in her DNA in some way. Some things are very obviously different about her, while others are not. She works hard just to learn and accomplish things that come naturally to most people.
Kabuki Syndrome is a huge part of who she is, and while it has been a difficult road for our entire family, and especially for Isabella, it also has a positive impact on her entire personality. She is happy. How could I be anything but thankful?
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Miggy: Can you take me back to the day your daughter was diagnosed? Do you remember how you felt? Can you compare those first thoughts and feelings with how you feel now?
Mikaela: The first time we heard from a medical professional that he thought Isabella might have a genetic syndrome, I was completely crushed. She was about 6 months old at the time, and although I had suspected something might be wrong, to actually hear it from somebody else, especially a neurologist, was horrible. For four years after that, every time one of her specialists would attribute a feature of hers to her “unknown genetic syndrome” my stomach would turn over and I would cry all the way home. For a long time, one of her neurologists thought she had a mitochondrial disease, which are horrible and progressive metabolic disorders. I was at my lowest point for that entire year, until extensive testing and specialist appointments seemed to point to another cause. By the time her geneticist finally mentioned Kabuki Syndrome, I was so excited and relieved to possibly finally know what was causing all of her issues, and to be able to put my mind to rest knowing that her syndrome shouldn’t cause her to get progressively get worse as she aged. While we waited for her blood work to come back for a definite diagnosis, I remember praying endlessly for a positive test result, because after being faced with so many worse possibilities for what Isabella was suffering from, Kabuki Syndrome felt like something we could handle. When the test results came back positive, a feeling of relief was definitely there, but so were a host of other emotions. I was sad, I was scared, and I was exhausted. And I was disappointed that a diagnosis didn’t take away all of my worries and anxieties like I’d hoped it would.
Today I am in a much better place. I still have my days where I can’t believe it, where I make myself sick with anxiety, and where I research obsessively for a scrap of information about Kabuki that I haven’t read about before. But seeing how happy and well adjusted she is takes me back to the reality that her journey in life is going to be beautiful, and that I am blessed enough to be along for the ride.
Miggy: Explain how your child’s specific special need affects your day to day life?
Mikaela: As Isabella has gotten older, her health has improved, and we have less urgent medical issues to deal with daily, which is a huge relief. She has had seizures in the past lasting upwards of 50 minutes before her medication can stop them, so we are always monitoring her for seizure activity. Her biggest issues daily revolve around her poor muscle tone, as she walks with an awkward gait, and struggles to maneuver her body in a normal way while doing every day tasks. She has trouble holding utensils to eat properly, and is working hard on holding a crayon with the right pressure to be able to mark on paper. (But she did just learn how to draw a circle, YAY!!). Her balance and coordination are very poor, and she needs assistance with every physical thing she does including dressing, toileting, going up and down stairs, walking off curbs, climbing, etc. I long for the day that I can let go of her hand and let her do things on her own, but right now there are just too many safety concerns.
Another huge daily obstacle is dealing with Isabella’s many irrational fears. These have gotten better over time, but she will still have total panic attacks and scream for long periods of time when she is faced with things as benign as automatic hand dryers in public restrooms or toys that she is not familiar with that make noise. These fears seem to come and go, and some days are better than others in regards to her reactions to sensory stimuli.
Isabella attends a special needs preschool where half of the children in the class have varying special needs, and half of the class are typically developing children. She goes to physical therapy, occupational therapy, speech therapy, therapeutic horse riding, and swim therapy. Much of our time is spent going to various therapies (although some she receives while she is at preschool) and going to appointments with her many specialists. She sees two neurologists, a geneticist, an ophthalmologist, and an ENT regularly, as well as having seen a cardiologist and a rheumatologist in the past. She also goes to a special needs dental office. Soon we will be adding orthopedics and immunology to that ever growing list of doctors. Luckily, we live within an hour to great hospitals with great physicians!
Miggy: What are the biggest worries you face for your child?
Mikaela: Of course, I worry about all of the “normal” worries, such as will she be accepted and valued throughout life, will she be happy, and will her health and development continue to improve. I worry that she will be able to take care of herself and stand up for herself when I am not there to do it for her. But my biggest worry currently has more to do with her specific genetic anomaly. Kabuki Syndrome is typically caused by a mutation in a gene called MLL2. Not only is this gene an agent in a person’s development both physically and mentally, but it is also a tumor suppressing gene. Because Isabella’s MLL2 gene is mutated, she lacks the proteins that this gene provides, and that seems to mean that she lacks that tumor suppressor. Because of the rarity of this syndrome, research on this particular issue is not extensive, but from what her geneticist and I have gathered in our own research, it seems as though she is at an increased risk for developing cancers of many varieties. I haven’t even been able to write about or talk about this with anyone outside of family and close friends before because just thinking about it makes me sick inside. But part of my own journey in having a child with special needs is learning to enjoy and be thankful for each day as it comes, and not to worry about what is already planned out for our future. Therefore, I try to spend more time reveling in the excitement of accomplishment and pride for what she is doing right now instead of waiting in fear and anticipation of what is coming next.
Miggy: Now for a lighter question, have you ever had any funny conversations/moments you never imagined due to your special needs situations?
Mikaela: Right before we got her test results back confirming her Kabuki syndrome diagnosis, I took her to a family meet and greet with other families who have a child with Kabuki syndrome. I almost didn’t go because at the time she wasn’t officially diagnosed, and I kind of felt like a wedding crasher at an event that we might not really belong at. I am so glad we went, as we met a lot of wonderful families there, and it made it real to me that this syndrome was a definite possibility for her. Anyway, on our way there, I struggled with myself in the car about what to tell Isabella about where we were going and who was going to be there. It was the first time that I was faced with having to tell her that she had something about her that made her different than other people, and that we were going to meet other children that were unique in a way that she was. Finally, I decided to be as honest as I could with her, and I told her that we were going to a “Kabuki Party” where all the children have something called Kabuki syndrome, which might be something that she has too. I explained it all to her as best as I could in a way a four year old could understand, telling her that they might look like her, talk like her, walk like her, and have some of the same medical experiences as her. When I was done, she smiled and said “Mommy! I’m so excited to have Pierogie Syndrome! I can’t wait to go to a Pierogie Party!” Needless to say, her speech and pronunciation are a little off, and to this day she tells people that she has Pierogie Syndrome.
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?
Mikaela: I wish I could tell people that while some of her needs are “special,” most of her needs are “typical”: she has way more in common with a normal 5 year old than some people give her credit for. I would love for people to give her the same treatment and have the same expectations of her as they do for her “typical” peers, while at the same time respecting what her specific needs are in the least restricting way. When a parent is looking at her curiously, I wish they would come right out and respectfully ask me what they are wondering about so I can tell them all about Isabella and about Kabuki Syndrome. I am just like any other mom: I love to talk and brag about what my child is able to do, and I would love tips on how to help her do things that she can’t do… but sometimes it is hard to make connections with other parents because they avoid talking about Isabella out of fear of offending me. I would rather people, if they are truly curious and have only good intentions, ask us what they want to know! I don’t want people to fear disabilities, and the only way to eliminate those fears is through being educated and becoming connected in some way with the people who have disabilities.
A lot of times people can’t tell by looking at Isabella that she has a genetic syndrome. This can be good and bad. Although she is nearing five, she is not capable of doing all of the normal five year old things, and this really stumps people. I wish people knew that you should never judge a book by its cover, and you should never judge why some of that book’s pages seem to be written in a different language. Everyone is struggling with something: try to express compassion in every word you speak, to every one you meet.
Miggy: What is the biggest lesson you’ve learned since becoming a special needs mom?
Mikaela: Every day I am learning lessons, both big and small, about being a mom to a child with special needs. Some days it is easy to forget that we are any different than any other family, but other days seem to have a cruel way of remind us that we do in fact face challenges that are different from those of the general “typical” population. I have actually found that one of the most recently applicable lessons I have learned has come from my interaction with other families I have met whom have children with special needs, and that is this: Behind every special needs child there is a special needs family. While we would like to be treated, viewed, and accepted as any normal family, the truth is, we as parents (and siblings) to a special needs child require more patience, sensitivity, encouragement, praise, forgiveness, acceptance, and help than many families in the general population. We are often judged harshly, get less sleep, have more financial burdens, less “free” time, and more marital stress. I never want to be pitied, or looked at as “needy”, but I definitely would love to have more people throw me smiles of encouragement in the grocery store when my child is acting differently than have them ignore eye contact with us, or worse: stare at her quizzically. Because of this lesson, I am so much more aware of and accepting of all of the beautiful differences in each and every person I meet. No matter what our race, gender, beliefs, economic status, or abilities (and disabilities!) we are all just humans who have unique gifts to offer this world, and we all want to love and be loved in return.
A huge thank you to Mikaela for sharing her story with us today. You can read more about their life on Mikaela’s blog found here. If you’re just joining us I’ve started a feature on Friday’s that spotlight special needs families. If you know a family that would be a great spotlight feel free to email me at thislittlemiggy at gmail dot com.
Truly inspiring. Thank you for the important things you taught me by sharing your story. I think you are all amazing and so strong, and I'm grateful for your beautiful insights and your courage and honesty. Sending much love your way, even though I don't know you. Thank you for allowing me to connect with your family tonight.
Dear Miggy, thank you so much for having Mikaela share the story of her beautiful Isabella.
Mikaela, I have a special needs young adult son, and I can relate to so much of what you wrote. Yes, you are so right in saying that there is more than just a special needs child. There is a special needs family. When you talked about that, you expressed it so very beautifully. Maybe someone reading your story will be encouraged to show some special love and understanding to a special needs family they know.
Thank you so much, Mikaela, for everything you shared, and give that little girl a hug for me!
I have the delight and privilege of knowing and interacting with Mikaela and her beautiful family in the day-to-day. We met through a family advocate for both of our daughters, and I can't tell you how much Mikaela has done to help me through the special needs journey. She truly has the best, most loving husband, and the sweetest kids. She is a lovely soul, and I am so lucky to know her. Thanks for having her share her story!
I love your quote about the family behind a child with special needs – I will definitely be quoting that! (I read it out loud to my husband) – so very true…
thank you for sharing your story!
Dear Miggy, I have truly been blessed by your blog, your story and the tender stories that you and others share with us through your special needs spotlight. The support and connection I have felt with all these amazing women and mothers has truly lifted me up. Our 19 year old son became a special needs child at 14. However it is something he suffers mostly in silence, and our family bears the weight of the secrecy of his private pain due to it's sensitive nature. Meanwhile it has turned our lives upside down & his to a screeching halt. I have found such strength through what is shared here. Thank you!
Mikaela, I love how you expressed about not judging a book by its cover. We have had so many make judgements, especially family, about our son & his condition because they can't "see" anything wrong & he "seems" fine! Your comment about the family behind the special needs child is right on the money! I often say that emotionally my special needs son is doing so much better than the rest of us are. The stress & strain wears on us all daily. I could not have expressed it any better. Thank you for sharing your story and lifting me up after a difficult day. Your story was the hug I needed tonight:)