Cognitive Age: 3-3.5 years
Therapies: Speech, Occupational and Behavioral therapies
Schooling: Public school, special needs room
Siblings: Anahi (10)
Parents: Nely and Ricardo Montano
Kabuki Symptoms: Cognitive delay, speech delay, fine motor skills delay, classic Kabuki features, dental abnormalities, cleft palate, bicuspid aortic valve, short stature, vision loss (astigmatism in both eyes), recurring ear infections, GERD
Yahaira's Story: The Montano's were ecstatic when they learned they were expecting their second child. Anahi was a toddler and it was time to give her a sibling. Nely's pregnancy was relatively normal with the only complication being high blood pressure. Her blood pressure was kept under control with medication, and there were no other indications that something might be wrong with their baby.
During delivery, Yahaira breathed in meconium and Nely contracted a pulmonary embolism (a blood clot in the lungs). Yahaira also had a very small chin and could not latch on to a bottle. Nely was kept in the hospital for five days, and Yahaira stayed in the NICU during that time as well. No one had answers for the Montano's as to why Yahaira's chin was so small, even after her health problems (like recurrent ear infections) continued. At 10 months of age, Yahaira was diagnosed with Pierre-Robin Sequence (PRS). According to medlineplus.gov, PRS symptoms include:
Jaw that is very small with a small chin
Jaw that is far back in the throat
Repeated ear infections
Small opening in the roof of the mouth, which may cause choking or liquids coming back out through the nose
Teeth that appear when the baby is born
Tongue that is large compared to the jaw
Thankfully, Yahaira's only symptoms were a small chin, recurrent ear infections and a submucosal cleft palate. Her chin eventually grew out on its own and she had tubes places around the age of 3 to help with the ear infections. Yahaira also had 4 molars removed when she was 3 due to her dental issues. But this diagnosis did not explain the other delays that would come. By the time she was 14 months old, Yahaira was still not walking and had missed milestones. Doctors told the Montano's that if she did not walk by 16 months, there was definitely a problem.
Yahaira finally walked when she was 19 months old, but they still had no answers as to why she was missing milestones and seemed delayed in everything. But the Montano's just kept doing what they were supposed to do, taking Yahaira to her therapies and various specialty appointments and doing everything they could at home to help Yahaira progress where she could. Blood test after blood test came back negative and the family continued to move forward as best as they could without a diagnosis.
Yahaira is now 8 years old and the Montano's only recently received her Kabuki syndrome diagnosis. They still have many questions to ask doctors and need to get answers. She has the KDM6A mutation, and the family has been told that both her PRS and Kabuki syndrome are mild cases. Nely says, "Yahaira is a trooper and she has taught us to never give up because she never gives up herself. At the moment we are working tremendously on her speech and her vocabulary is increasing. She almost has complete sentences, which is amazing! As parents, we are trying to help her the most we can."
Like a lot of families, both Nely and Ricardo work outside the home. They regret not being able to have Yahaira in more therapies, but they work with her every hour they are home to help her with her speech and behavioral therapies. And, like most Kabuki families, they spend most of their time driving from work to appointments and back, but they agree that while exhausting, it's worth it. They want to help Yahaira be the best person she can be, stating that she is a ray of sunshine who brings happiness and joy to everyone around her.
Yahaira’s Favorites: "Yahaira loves to sing, dance, give hugs, do puzzles and jump. Her favorite television show is America's Got Talent (AGT) and her favorite singer is Angelica Hale, the contestant from AGT. We have a small trampoline in our living room and she uses it all the time. Her favorite food is rice, white rice and Mexican rice. Some of her dislikes are swimming and sometimes wearing her glasses."
Yahaira's Relationship with her sister: "Yahaira and Anahi have a good relationship although big sister tries to correct Yahaira a lot when she makes bad choices."
Advice for Kabuki families: "My advice for Kabuki parents is that it is okay to cry at times but also to remember that life is beautiful. Also do not forget about yourself because your KK needs you so always take care of your health too. I also would like to say that this journey may start off rough but it does get better with time."
Advice for parents of “typical” children: "I want parents of "typical" children to know that we love our KK the same like they love their own children. We dedicate our lives so our KK could have the best life they can. We give up a lot of material things but the reward is watching the accomplishments of our KK, it is a beautiful feeling no words could ever explain. I also want them to know that sometimes this journey could be lonely at times so please do not hesitate to ask how we (the parent) is doing or feeling. I also want them to know that sometimes dads are a part of this tough KK journey and these dads deserve to be applauded to."
How Yahaira has impacted the family: "Having a KK has changed our lives completely as a family. I will be honest to say that this journey has been very difficult. We still at times mourn that "healthy and normal" daughter we could of had. We hear that it is normal so I cannot wait to pass that phase. As parents we feel very blessed for both our daughters and this KK journey has showed us about unconditional love and having no boundaries for love. A love like no other. It has also changed our outlook on life and that it shouldn't be taken for granted."
Nely and Ricardo are doing everything in their power to ensure that both of their daughters have everything they need in life to be successful. They fought for Yahaira when doctors couldn't give them answers, they never gave up trying to find a diagnosis for their daughter that would give them the answers they needed. Now that they have it, they are armed with questions to take to her providers to help her get everything she needs. And while they have a supportive family, they have relied heavily on their Christian faith to get them through. And now they have a whole tribe of Kabuki families who will stand by them and hold them up when they need it the most. That's the beauty of the Kabuki syndrome community: we stand together and we stand strong!