KK Name: Lorelai Lavayen

Age:2

 

Cognitive Age:10 months

 

Therapies:Speech therapy, physical therapy,

occupational therapy, child development therapy

 

Schooling:N/A

 

Siblings:Alejandra (7) and Noah (4)

 

Parents:Ellen and John

 

Kabuki Symptoms:Early heart failure, mild hearing loss, persistent fetal pads on fingers, sacral dimple, low immune system, developmentally delayed, happy disposition, sensory processing disorder, high palate, chronic ear infections, skeletal abnormalities, typical Kabuki facial features, flat block feet, oral fixation, hypotonia, misshapen ears, heart murmur, GERD, head rocking, nystagmus, hypoglycemia, excess body hair

Lorelai’s Story: Ellen’s pregnancy with Lorelai was picture perfect. There were no signs that anything could be wrong with Lorelai, she carried to term and had no health issues along the way. She says she even sometimes forgot she was pregnant because she felt so good!

Then came the big day, when Lorelai graced this world with her presence. Everything seemed fine at first she weighed 6.5 pounds and was 19.5” long, and absolutely perfect. But five hours after she was born, Lorelai was whisked away to the NICU for having dangerously low sugar. Doctors assured Ellen that Lorelai would be fine, that she would be back in her arms in no time. Lorelai spent 10 long days in the NICU with no answers as to why her sugar was so low. Mom hadn’t had any problems during pregnancy that would warn them this could be a problem, and the doctors had no answers. They released Lorelai with an insulin inhibitor so that her glucose levels would stay up, and that was when they received the hypoglycemia diagnosis.

After going home, Ellen noticed right away that something was up with Lorelai’s eating habits. Compared to the other two children, she wasn’t eating nearly as much, and she was throwing up a lot. She was always asleep, throwing up, and the medicine (a steroid) for her insulin was causing her to get a lot of facial hair that increased seemingly every day. Mom took Lorelai to the doctor, who sent them to the hospital for admission. Lorelai was diagnosed as Failure to Thrive. “I was in so much pain seeing my princess laying almost lifeless on the hospital bed,” Ellen says. “I felt guilt also, feeling that as her mother I could not take care of her. I felt like I had just gotten her from NICU and didn’t want to give her back to the doctors. She was my baby after all right? As her mother I am supposed to make and keep her healthy right?”

 

After a week in the hospital, Lorelai was still losing weight and throwing up. The doctors gave up on bottle feeding, as they had the same results that Ellen saw with nursing. They put in an NG tube, but did not consult the family before doing so. So one day, Ellen arrived at the hospital after getting the other two children ready for school, and Lorelai had a tube down her nose. It was a shock, and while the nurse apologized profusely, Ellen was not going to leave Lorelai for long again. She spent the next weeks going back and forth between the hospital, 30 minutes away, and home several times a day. All the while, her husband had to keep working and put on a brave face.

Lorelai spent her first Christmas and New Year’s in the hospital, but the NG tube was working and she was finally gaining weight! But, as our 

 

Kabuki kids like to do, another wrench was thrown in their path three weeks into their stay. A resident noticed a heart murmur, had it confirmed and an EKG was ordered. As the EKG was being done, the tech explained that if there were any issues, she wouldn’t be able to answer any questions and would have to get the cardiologist. She explained the likelihood of this was small, and they talked about how Lorelai was being so good. As the results came through, the tech lost the emotion on her face and left the room without a word. She returned with the cardiologist, who explained that Lorelai had Early Heart Failure and would possibly need open heart surgery. Lorelai had three holes in her heart. It felt like one step forward, two steps back. Geneticists sent off testing, which came back negative for any syndromes. Ellen questioned why all of this was happening, and went through a roller coaster of emotions. Thankfully, Lorelai was discharged from the hospital after a month of being there. Mom describes it as, “Such a happy day for our family.”

Six months later, Lorelai was taken in for a follow up where her geneticist showed concern about her development, and ordered different genetic testing. She even mentioned Kabuki, which was nothing Ellen had ever heard before. Three months later, the results were in and Lorelai was officially diagnosed with Kabuki syndrome. Everything seemed to stop in that moment, Ellen was in shock. But after dealing with all of the emotions that come with learning your child has a rare disease, Ellen realized that Lorelai is one of the best things to ever happen to her.

Lorelai still awaits heart surgery, she’s getting all of her therapies and has a G-tube now rather than an NG tube. She is not walking yet, but she’s hitting milestones in her own time. Ellen says, “She is PERFECT and I wouldn’t change a thing about her!”

Lorelai’s Favorites: “Our Lorelai loves praise! She will do things to get a clap and cheer out of you. She also loves to put food in her mouth and spit it out (she won’t swallow), she loves to play with water and be thrown in the air. She also loves being chased and when someone sings softly into her ears. She likes to brush hair, whether it be her own or someone else’s. She LOVES music! She loves climbing into small spaces and exploring everything in sight. She doesn’t like to be handed to strangers. She doesn’t like loud sudden noises or when her siblings cry (she will cry too). She doesn’t like diaper changes (mom too!) She doesn’t like masks or helmets (her father has a motorcycle and she freaks out when he wears his helmet). She doesn’t like to get her nails cut!”

 

Lorelai’s Relationship With Her Siblings:Lorelai’s older sister, Alejandra, absolutely adores her and takes it upon herself to protect her baby sister. Alejandra often says that Lorelai is her favorite person in the world, followed closely by her mom. Noah gets very excited around Lorelai and often has a hard time controlling his love for her. At the age of 4, Noah tends to be a little rough for Lorelai, but he is learning to be gentle. According to mom, both kids “love her (Lorelai) to pieces!”

Advice for Kabuki families:“My advice would be, You Are Strong. At first when we discovered Lorelai had a syndrome, I was in shock. I went through all the emotions: shock, denial, fear, anger, acceptance. Now as I look back, I am so blessed. I have realized that Lorelai was given to me because God trusted me to care for one of his most choice spirits. That’s what I have to say to other Kabuki parents too. God trusts you enough to give you one of his valiant and special spirits to care for here on Earth. He has faith in you and knows you are strong enough to be their caretaker. He did not “let this happen” to your child, He placed his well-loved child tenderly in your hands. Now it is your turn to love that child and help that child flourish and blossom. It is really an honor and blessing.”

Advice for parents of “typical” children: “Don’t ignore our Kabuki angels! I was in the same boat before I had Lorelai. When I saw a kid with Down Syndrome or any kid that didn’t look “typical”, I would just smile and sort of look away. Now being on the other side of that situation, I would say to parents of “typical” kids, TALK TO OUR ANGELS. They want friendship and attention just like any kid. Treat them like you would any kid. Also, talk to us about how they’re doing. I like talking to other parents about Lorelai and the progress she’s making and her health issues. Not talking about her makes me sad, like she’s not worth talking about. I love it when children come up to me and ask what the tube hanging out of her shirt is. They are so innocent and curious. They simply want to know. More awareness of special circumstances we have with our children would be wonderful.”

How Lorelai has impacted the family: “Having our Lorelai has been one of the biggest blessings in our family! She brings so much joy and laughter into our home that it’s hard to imagine what life was like without her. She is teaching us so much; hard work, perseverance, unconditional love, and courage. She has probably been through the most in our family but is seriously the happiest. She teaches us to be grateful in life and appreciate what we have been blessed with. Being a Kabuki parent has changed me definitely to become better. I am more compassionate and empathetic as well. It has also helped me become a better parent and sensitive to my other children and their needs. Before Lorelai, I took good health for granted. I appreciate it a lot more now. Even with her syndrome though, I am grateful that she doesn’t have major medical issues or at least issues that would be too overwhelming. Although I could never see myself being too overwhelmed by her as she is just perfect.”

Lorelai has had a rough start to her little life, and still has some difficult things in her future. But she persists, she fights and she brings joy to everyone around her. It is evident that the Lavayen family was a perfect place for Lorelai, where she is loved beyond measure!

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All Things Kabuki (ATK) is a registered 501(c)3 non-profit corporation based out of Wasilla, Alaska. We are the only U.S. patient advocacy group supporting the Kabuki community globally. Our mission is to raise awareness, incite research, and support individuals and families affected by Kabuki Syndrome. 

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