August Spotlight:
RIKKI KING

Age: 21

 

Cognitive Age: Undetermined | Full Scale IQ 60

 

Education: High School Certificate of Completion

(15 years of education)

Therapies: Physical, Occupational and Speech Therapies

Clinical Specialists: Genetics, Neurology, Endocrinology, Nephrology, Gastroenterology, Immunology, Audiology, Rheumatology, Ophthalmology,

Cardiology, Rheumatology, Pulmonology, Urology, Otolaryngology, Chiropractic, Dermatology, Gynecology, Neuropsychology, Orthopedics, Internal Medicine, Dental

 

Siblings: Christian (25)

 

Parents: Troy & Rene King

riks.jpg
Rikki Toddler 1.jpg
Rikki 25.jpg
Rikki 27.jpg
rikki 11.jpg

Rikki King: Inspiring A Legacy of Hope

Kabuki Syndrome (KS), as many of our readers may know, is a rare genetic disorder that was first identified and described in 1981 by two Japanese physicians who noticed specific facial anomalies and other physical features. It was seen as a rare occurrence therefore the medical community at large was not aware of the syndrome; few physicians were able to recognize it in their patients. The genome that is responsible for this condition was not identified until 2010. Even with the discovery of the genetic variants that create Kabuki Syndrome, we are all still learning how this expresses itself in individuals; impacting their health and the quality of their life.

Raising a child with Kabuki Syndrome is a job that is filled with medical questions that can often go unanswered for years. When we do find answers, more questions abound. It is a challenge to navigate the flow of mysteries that affect our children and permeate our lives. Our days are filled with the unending tasks of nursing multi-system ailments, negotiating with a reluctant and under-resourced educational system, researching for specialized providers, appropriate services and resources, fighting insurance battles, dispensing medications, assisting pain management, providing behavioral interventions, and performing the usual daily activities of keeping everyone clean, fed and dressed. The day-to-day routines can isolate us from even the closest of friends and family members who, despite their love and desire to help, may not fathom the depth of physical, and mental fatigue or the hopelessness that underlies such a life without solutions or informed guidance. For some families who do not have relatives, a supportive community, or resources nearby, the hopelessness is compounded by their isolation.

While the internet may provide inaccurate or conflicting information, it has also been an invaluable tool for the families of, and the people living with Kabuki Syndrome. Since 2013, ALL THINGS KABUKI (ATK) has been a hub for an exchange of information, a source reporting the latest on medical research and its findings, a link for resources, and a place where families and individuals affected by KS can connect and find emotional support. Many of you may know the founder of ATK, Rene King, through social media and all of the programs that she has put together for the Kabuki community. In many ways, her online presence feels like a close, supportive friend who knows where you have been, has the map, and holds your hand to guide you through the darkness. This month, dear Spotlight reader, we hear from Rene about her family’s journey and get to know more about her sweet daughter, Rikki, who shows us how her quiet strength, loving heart, and strong faith are the inspiration and impetus for ALL THINGS KABUKI, a source of connection and hope to so many families. - Stacy Limperis, ATK Spotlight Writer

Rikki BCH 3.jpg
rikki 14.jpg
Rikki Knee Surgery.jpg

Kabuki Symptoms:  Rikki presents with many of the typical underlying conditions, physically and intellectually, found in KS. Some of them include Autism Spectrum Disorder, Developmental Delay, Static Encephalopathy, Anxiety, PICA, short stature, delayed bone age, congenital heart defect (aortic insufficiency), feeding dysfunction, reactive airway disease, Sensory Modulation Disorder, Hypothyroidism, Sensorineural Hearing Loss, Strabismus, Amblyopia, Ptosis, Kidney disease, Insomnia, Obstructive Sleep Apnea, Hypotonia, Dislocating Patellas, Keratosis Pilaris, vocal cord dysfunction, immunodeficiency disorder, and more.

Atypical Kabuki Symptoms: Some conditions not frequently seen in younger Kabuki Syndrome patients include: Hashimoto’s thyroiditis, undifferentiated connective tissue disorder, hidradenitis suppurative, IBS, and gastrocutaneous fistula.

She has 62 underlying diagnoses and has had 40 procedures since birth. Some of her procedures include multiple eye procedures, multiple ear procedures (tympanoplasties and ossicular chain reconstruction), two MPFLs (medial patellofemoral ligament reconstruction), and Nissen fundoplication, imperforate anus repair, feeding tube, adenoidectomy, tonsillectomy, and fistula repairs. Rikki overcame her fear of needles and frequent blood draws when she was about 15 years old, thanks to the help and support of several phlebotomy friends. She had to have all of her dental work done under anesthesia until the age of 19 and with the support of an amazing pediatric dentist that spent a great deal of time and patience working with and educating Rikki. Last year she had a wisdom tooth pulled and 8 crowns placed – in a regular dentist’s chair. Rikki wears glasses, bilateral behind-the-ear hearing aids, and AFOs (ankle-foot orthotics). Ask Rene about Rikki’s multiple medical challenges and she will tell you, “Rikki never ceases to blow my mind and amaze me with how brave she is.”

Meeting Rikki: 

I was fortunate enough to meet Rikki over Zoom. Her soft voice, gentle manner, and sweet smile lit up the screen. While Rene was describing some of the challenges their family has experienced, Rikki became teary and stepped behind her mother. Rene explained that Rikki is highly sensitive and empathetic, “If someone is hurting, Rikki will hurt too. She LOVES to please people. She is a friend to everyone, no matter their loyalty to her. Rikki struggles with loud noises and occasionally anxiety creeps up but has learned how to cope.”.  Within only moments of her sensing her mother’s sadness regarding some of their past challenges, Rikki was able to step away from the screen and returned with that sweet smile so that she and I can chat. She described some of her favorite things: her favorite foods are tacos, spaghetti, and lasagna, and loves going to the Olive Garden. Rikki’s favorite music is Christian music, and Lauren Daigle is her favorite musician. And her favorite television show is Dateline.

 

She has the drive to be independent and learn new things. She loves to do diamond and sequin art, mosaics, travel, camp, and bake. Right now, she makes cold drinks and her favorite is a cold brew caramel macchiato. She says she wants to be a barista someday. Rikki loves to spend time with her grandma and her aunties. She volunteers at Kabuki Coffee, her grandmother’s coffee shop. She is a lover of dogs and deeply misses her girl, Chaos, her fourteen-year-old rat terrier that passed away during the pandemic. She is currently a volunteer Foster Sister for animals. And finally, does a lot of volunteering for ATK: Makes all the confetti, assembles the folders, mail, and many other clerical duties as needed. With so many strengths and talents, I wondered what Rikki thought her superpower was. Her reply came as no surprise:  She loves people and is a good friend. Rikki has friends, and Kabuki sisters and brothers, all over the world that engage with, love and support her all across the globe. She has found joy through her relationship with Jesus and loves life, despite the frequent hardships she endures.

rikki 16.jpg
IMG_6070.JPG
rikki 55.jpg

What therapies does Rikki receive?  

Rikki received occupational, speech, and physical therapies, on and off throughout her entire life. We would take breaks as needed because twice a week therapy, for each of three different specialties, could get so overwhelming- not just for our family, but for Rikki too.

What was Rikki’s education?  

Rikki started special education pre-school when she was three years old and was on an Individualized Education Plan since then. Due to a physical assault in 5th grade that resulted in self-injurious behaviors, bedwetting, and anxiety attacks, requiring anti-psych 

medications, Rikki was pulled out of public school and homeschooled from grades 6-12 where she thrived. Having had the option to remove her from the environment, she was able to stop taking meds after one year and while she still experiences some anxiety, it’s managed well without medication. The King's stuck to self-help and daily living activities for Rikki while schooling. She has also been on an IDD waiver for most of her life. Through the waiver, she receives Day Habilitation Support and Supported Living Services. Just before Rikki’s 18th birthday, Troy and Rene were granted guardianship and conservatorship over Rikki. She graduated high school with a certificate of completion in 2019.

 

Currently, Rikki struggles in many areas (she can’t count double-digit numbers without a calculator, she does not know subtraction or multiplication, but she can operate an iPhone like an expert and can remember what we did on what day even last month). So, while she struggles in some areas, she’s absolutely brilliant in others. Some examples … for science we worked on cooking, and growing veggies. For math, she loves grade school workbooks, learned about measuring for cooking, while still a struggle, value of money, etc. Rikki did a lot of sequin art and diamond art for electives/art (fine motor work). We established ATK’s Pen Pal Club years ago as a writing credit and tried to do things that would have meant going forward for her.

rikki 555.jpg
rikki 21.jpg
Rikki 3.jpg

Rikki’s Story

 

Rene, were there complications or challenges during your pregnancy with Rikki?

Rikki was my second child. I knew from the first trimester that something was not right. As I entered the second trimester, I sought help repeatedly from the military facility providing care, and every time they sent me home suggesting every pregnancy is different and it would be just fine. I ultimately ended up on bed rest in my third trimester due to chronic pain and fatigue.

 

Were there any complications during or after her birth?

We found out during delivery that I had significant polyhydramnios. There was thin meconium and Rikki had to be resuscitated at birth. She spent two days at the military facility due to ongoing distress every time the military doctors took off her oxygen hood and tried to get me to breastfeed her. We weren’t sure what to do or think but with there being no nursery at the military facility, Rikki did not get the appropriate care as quickly as she should have. I was discharged on day two (typical then on base) and with my discharge, they finally made the move to transport Rikki to the civilian neonatal intensive care unit (NICU) at Providence Hospital in Anchorage, due to her ongoing distress and need for oxygen. We met the ambulance there and had to wait for Rikki to be evaluated.

The NICU was very different compared to how it is now. All the babies were in one single room with a lot of commotion. Rikki was the biggest baby there, weighing more than her brother did, at 7 pounds 15 ounces.  The NICU quickly determined Rikki had aspiration pneumonia, severe reflux, and an imperforate anus that would need repair. She also was not able to coordinate suck, swallow, or breathe and an ng-tube was placed.

 

Rikki spent nearly two months in the NICU. While there, the doctors ordered a battery of blood tests and acknowledged that she looked “syndromey”. She was tested for Prader-Willi Syndrome and Angelman’s Syndrome. The bloodwork came back negative for every test the doctors ran and she was ultimately discharged without a diagnosis and with little hope. We were told she’d likely never walk, talk or eat by mouth. I took her home, terrified.

 

Rikki’s journey started out rough. The trauma of her birth and the events of the year that followed broke me. Our son was 5 years old, Troy was a military police officer, and I was an administrative assistant at The Arc of Anchorage. When Rikki was born our lives were flipped upside down. I was 25 when I had her. I remember feeling lost and completely empty. On September 11, 2001, our world was flipped upside down yet again! While our daughter was still in the NICU, America was attacked and that evening my husband’s leave was terminated and he had to report back to duty.

 

It seems like Rikki cried the majority of her first-year home. People from our church would volunteer to come up and hold and rock her so I could shower, catch a nap or spend a few minutes with my son. I remember praying over and over that God would just let me go to sleep and not wake up again. Despite having family and friends, I felt so alone and confused. It was certainly one of the darkest times of my life.

 

After my husband had broken his neck he received a permanent change of station back to Fort Richardson, where we lived with my parents. What a blessing that turned out to be, because I was terrified to care for this fragile little baby with tubes and monitors and more questions than answers. I eventually got it together and we bought a house and boom, my husband came down on order to deploy to Afghanistan for 6 months. Shortly after his return, he came down on orders to do a 15-month tour in Iraq. I worked a full-time job and had two kids. Adapt and overcome. Again. We made a lot of changes in life and survived yet again.

When did you find out Rikki has Kabuki Syndrome?

In November 2001 Dr. Pagan from Seattle Children’s Hospital came up for Alaska’s satellite clinic. If I recall correctly, she looked at Rikki for less than 5 minutes and clinically diagnosed her with Kabuki Syndrome. This was about ten years before the genome was identified. Seattle Children’s was already doing research for Kabuki Syndrome. I had no idea what it was but was determined to learn as much as I could, despite those being the days before social media. Three doctors followed Rikki initially. I learned something from each doctor, during each visit. We participated in research in 2003 at both Children’s Hospital of Philadelphia and Boston Children’s Hospital. Both hospitals were hoping to find the gene known to cause Kabuki Syndrome. In 2011, through banked blood, Dr. Milunsky of BCH School of Medicine confirmed Rikki had a mutation on the (then) MLL2 gene; however, it would be several years before I actually understood what that meant.

 

Rikki’s medical needs were more easily recognized and treated in her younger years than the mysterious ailments that affected her in her adolescence. It seemed like managing her health was a lot less complicated compared to her puberty and post-puberty complications. Rikki started to present with unusual facial changes, rapid weight gain, chronic fatigue, and other unusual medical conditions after puberty. We would get one issue diagnosed and under control and another would present or worsen. We were constantly running in circles trying to keep her healthy. The doctors were dismissive, or just didn’t have answers to the questions. Rikki was suffering and there were no options available for relief or improving the quality of her life. Each one of those encounters chipped away at my hope for Rikki. After 14 months, with the help of a family in our community, Rikki was finally diagnosed with hidradenitis suppurativa. Once we found a doctor to treat it correctly, she found relief.

 

Then, out of the blue, Rikki experienced pain in her stomach at her feeding tube site, which had been closed for 15 years. Our doctor at Boston Children’s Hospital told us to see a surgeon and suggested Rikki had a subcutaneous fistula. The local surgeon did not believe us and Rikki suffered because of it. We had to fight to get the doctors, both the local emergency room and the local pediatric surgeon to listen to us. In the end, Rikki had a fistula that abscessed and took two surgeries, multiple nights in the pediatric intensive care unit (PICU), and a lot of pain to overcome.

Meeting Dr. Bodamer was a God-send. It was the first time I heard a physician say “I believe you” in a very long time. So many doctors had previously destroyed my sense of optimism for Rikki. This was the first time in a long while that I had been given just a glimmer of hope. It is so important to be able to grasp onto something that gives you hope for your child. Even a touch of it can change your perspective.

 

It’s been over twenty years and we still have to fiercely advocate for the medical community to listen and support us. We’ve had a handful of amazing doctors, but here in Alaska, there are only a few and far in-between. It’s so important to find a medical team that will listen to you and trusts you … as your child’s caregiver and (by default) expert on them and their disease.

rikki 19.jpg
rikki 26.jpg
r2.jpg

What impact has Rikki had on your family as a whole? Has it changed you?

Raising a child with a rare disease has significantly changed every aspect of our lives. With Troy having spent Rikki’s entire life in the Army, we are relatively accustomed to adapting. But, throw in a medically fragile child and well, some days it feels like your boat is sinking and everyone is watching you go down.

 

Having a child with Kabuki Syndrome has changed me in so many ways. I have learned to fiercely advocate for Rikki, as well as others like her. When we become parents, we learn the importance of giving, of time and self. We become less selfish and self-centered and more focused on the little life we brought into the world. With my son, I had to grow up quickly and get my life together, and for the first time, I understood unconditional love. Then I had Rikki.

 

Raising her, and serving this community, has changed my heart towards others. It’s taught me that you can love a stranger and their child, even if you’ve never met them face-to-face. It wasn’t until I found our tribe that life really changed for us. For me. You can be physically surrounded by people you know, who love you and want what’s best for you but you can still feel alone. We’re on this journey with some of the most amazing people in the world who understand me. I can receive a card, message, text, or sit side-by-side with another mama and not have to say a word…but have peace. 

I have celebrated, cried, and grieved with what one might consider a stranger. This is something most people don’t experience but can have such a profound impact on your life. We are called to serve others, and if not for Kabuki Syndrome, I’m not sure I would do so today. I hold on to 1 Corinthians 13:13 “… And now these three remain faith, hope, and love. But the greatest of these is Love.”

 

When we began traveling around the US, Troy had the opportunity to meet other families; seeing our kids interact, and getting to know the fathers of these individuals with Kabuki Syndrome, changed him. One night, after leaving a small event in the lower 48, I was crying – leaving these amazing people that I felt connected with; people that understood the journey we were on. Troy looked at me and said, “I get it now.” It changed his perception of the work I do and the way he supported me. He understood my desire to support the KS community and why I worked so hard to help ‘strangers’ around the globe.

 

We’re now in our 40s and Troy just retired from the military … we thought we would be empty nesters by this age – traveling the nation in a motorhome, relaxing and enjoying life. God clearly had other plans because here we are … I’m a full-time volunteer for a patient advocacy organization, teaching my sweet girl life skills every single day, enjoying life, and camping … in Alaska. This is certainly not the life we planned, but we quickly learned to adapt and overcome … over and over and over again.

 

You learn to appreciate the little things in life. The things we (I) took for granted with my healthy, neuro-typical son, my daughter had to fight for. It’s made me appreciate life so much more than I ever had before.

 

How has Kabuki Syndrome affected Rikki’s relationship with her brother Christian?

Rikki and Christian share a very typical sibling relationship. They enjoy picking on each other, but they’re always the first to call or text each other when something is wrong or one of them is hurt. Christian has served as a caretaker alongside Mom since he was very young and their father spent a big chunk of their youth in Afghanistan and Iraq, or TDY with the military. 

 

From where do you draw your strength?

There have been many days I wasn’t sure I wanted to keep fighting. But every time, God shows up! He has saved Rikki’s life more than once. She has done everything the doctors said she would never do …. walk, talk, eat. Rikki loves Jesus and enjoys spending time at church. At the end of the day, it’s my faith, above all, that gives me the strength to roll up my sleeves and get back in the rare disease ring. 

What is your support network?  We have an amazing family that is very active in Rikki’s life. Since joining Facebook and launching ATK in 2013 we have developed lifelong friendships with hundreds of men and women around the globe. Many of which I know I can reach out to when times are hard. Rikki is friends with hundreds and hundreds of KS parents and Kabuki Kids on social media. They get her, love her and cheer for her. She really enjoys following others and is frequently showered with love and support by all of you. For this, I am so grateful!

What was it that sparked the creation of ALL THINGS KABUKI?

We actually have a link on our site that describes how it came about. https://www.allthingskabuki.org/okc

I like to say that it started with a Kabuki Kid and a Christmas wish; ironically that Kabuki kid was not Rikki. The inspiration was Elizabeth Golab, who was excluded from receiving a gift from a local charity because of her age. It was an opportunity for a Random Act of Kindness that sparked so much generosity from people to provide gifts for her and other families affected by Kabuki Syndrome. We called it Operation Kabuki Christmas (OKC).  It is a program that is still going strong, ten years later. In the spirit of inclusion for Elizabeth, we do not exclude siblings from the program. Altogether, since its inception in 2013, OKC has served 108 families, and 299 kids. By the close of that first run of the program, there was an obvious need for support and advocacy resources, especially in the United States. We called ourselves All Things Kabuki and self-funded the organization until 2015, when we applied for 501c3 non-profit status. Operation Kabuki Christmas ultimately evolved into the non-profit patient advocacy group, ALL THINGS KABUKI INC.

I want to mention that Elizabeth Golab, the inspiration behind Operation Kabuki Christmas, passed away on March 15, 2015, at the age of 16. After Elizabeth passed away, her mom sent Rene a message asking that she not forget her daughter. Determined to keep her promise to never forget the little girl that inspired OKC and ATK, the annual Elizabeth Golab Memorial Award was established to recognize people who have made a significant contribution that betters the lives of people living with Kabuki Syndrome and their families, on a global level.

Rikki 4.jpg
rikki 17.jpg
Rikki.jpg

You have been pretty open about sharing your experiences during some of the more trying times in Rikki’s life. Can we talk a little bit about the impact that caring for a loved one who has Kabuki Syndrome may have on the caregiver’s mental health?

I remember bits and pieces from that time in my life. There is still a stigma when it comes to talking about mental health. I have heard from so many mothers in our community, who are overwhelmed, depressed, and just want to give up. That makes me so sad. People need to know that what they are experiencing is not abnormal. It is a normal reaction to an overwhelming situation.

 

It is ok to feel overwhelmed as long as you can acknowledge and recognize it and learn how to care for yourself. And that looks different for everyone. For me, I go to church and seek support from family. For others, they may need to talk to a friend, a pastor, attend advocacy training, or parent support group in their geographical or online community.

 

This is why I started Operation Inspiration. Reach out to us. Although we are not providing mental health services, we are connecting mothers, so that they know that they are not alone. There are individual stories and differences among us but there are also so many common experiences in life with Kabuki, we are a community that understands. We are “Your people”.

 

How do you keep going?  We stay in the fight for Rikki and all of her Kabuki brothers and sisters. Our reach is significant. You have to be accessible and active or you’ll lose the community. The audience dwindles if you step back and that would be a loss for everyone.

I see quite a bit of information exchanged on the Kabuki Parent Facebook page. It seems to me clinical patterns are being noted in real-time amongst us before researchers have the chance to gather, study and document all of it. Is there any possible opportunity for a partnership with any researchers to use any of the information available through ATK?

Actually, in collaboration with the National Organization for Rare Disorders (NORD) we just built (and obtained Institutional Review Board (IRB) approval for) the first Kabuki Syndrome Registry. The Registry goes live on August 1st. We crowdfunded the $10,000 to build the registry and recruited the best of the best, Dr. Olaf Bodamer, to serve as the Principal Investigator. We have a link on ATK with more information. It is free and is available online globally, to all people with Kabuki Syndrome and their families. It will be ongoing support and is the greatest gift we can give to the Kabuki Community. It is our legacy to give hope.

What is the ultimate goal for you?

I want to help other families and children/individuals with Kabuki learn how to advocate for themselves/for their child. I want to give them the confidence to do it. Sometimes we just need to know someone out there believes in and supports us. We have to advocate for more than just our child ... as a community, our voices are louder and we are so much stronger when we stand (and advocate) together.

What advice do you have for parents and families of people with Kabuki Syndrome?

Hang on! You’re in for the ride of your life.  Don’t try to go it alone. Reach out to the community, a parent, and a mentor. Anyone that you feel safe talking to. Your journey will likely be difficult from time to time, but it’s so worth it. Do your best to not neglect yourself; while it looks different for everyone, self-care is so important and can save your life. Everyone can learn to be an advocate and can play a role in effecting change for the differently-abled. Always trust your instincts, no matter what. Find your voice, you won’t regret it.

 

What do you want neurotypical people to know about raising a child with Kabuki Syndrome?

People tend to be afraid of what they don’t understand. Get to know our kids. They want the same thing in life that most people want … to fit in, be seen, and be loved. A simple hello means more to a special needs child (or their caregiver) than you know. Our kids are full of compassion. They love hard and are loyal to those that love them back. Don’t be afraid to befriend someone with special needs, they will change the way you look at life.

 

What is your dream for Rikki?

My dream for Rikki is that she would have a good quality life and be surrounded by people that love and pray for her and her future. I want for her to have a safe community to thrive in, both in person and online. This is my dream for all of the amazing kids and adults affected by Kabuki Syndrome.

What is your greatest hope?

I hope to always be able to find the beauty in the disaster, because it is easy to lose sight of that. 

Spotlight Writer: Stacy Limperis