KK Name: Alessandra Lopena, "Peanut"
Cognitive Age: 2
Therapies: Speech therapy
Schooling: Not currently attending, but the search is on!
Siblings: Mia (2)
Parents: Melissa and Steven Lopena
Kabuki Symtpoms: Alessandra presents with typical facial features including long eyelashes, high arched palate, arched eyebrows, sacral dimple, bilateral hip dysplasia (not corrected yet), hypotonia, speech and feeding delay, small stature, fetal fingertip pads, developmental delay, and she does not have all of her teeth yet, although some are still coming in.
-Alessandra also has Short Bowel Syndrome secondary to Necrotizing Enterocolitis, which is not associated with Kabuki, and also has an under-developed pituitary gland resulting in panhypopituitarism, meaning the glad secretes a reduced amount of all pituitary hormones.
Alessandra's Story: Melissa and Steven Lopena hadn't been married long when they discovered they were pregnant. Both excited and nervous, as all new parents are, they were unaware of what lay in their future. Melissa had a pretty typical pregnancy with no major problems. In the third trimester, Alessandra was measuring small, but not small enough to cause concern, it was simply something they monitored. Even labor and delivery were normal, everything they were told to expect, and Alessandra was born at 39 weeks gestation. That's where the normalcy ended for the Lopena's, though. During the routine evaluation of their newborn daughter, the doctors discovered that Alessandra had extremely low blood sugar, and whisked her away to the NICU.
For the first week of Alessandra's life, she wasn't fed regular food, only given sugar through an IV, and she wasn't allowed to be held. Having a baby in the NICU is hard enough, especially for first-time parents who were blindsided with the news they would be unable to bring their daughter home. While in the NICU, the doctors also discovered that Alessandra has bilateral hip dysplasia and an under-developed pituitary gland. The under-developed gland resulted in panhypopituitarism. According to the Children's Hospital of Philadelphia (CHOP), this occurs when the pituitary gland secretes a reduced amount of every pituitary hormone, when it's not all hormones it is called hypopituitarism. This discovery resulted in MRI's, EEG's and ultrasounds, but the Lopena's still had no answers as to what was wrong or why they couldn't bring their baby home. Instead, Alessandra was placed in a harness for her hips and the doctors began treatment for her thyroid and cortisol hormone deficiencies.
While all of this was going on, Alessandra was still battling low blood sugar. Once it was stabilized, though, she was having trouble eating and so an NG tube was placed. A few weeks of this and it was close to Christmas, Alessandra was taking close to 80% of of her feeds by mouth. The hospital was discussing sending her to a rehabilitation hospital so she would not have to go home with an NG or G-tube. Unfortunately, shortly after Christmas on December 29th, she suddenly stopped taking her bottles and became very distressed. The next day they found out why as Alessandra was diagnosed with Necrotizing Enterocolitis. According to MedlinePlus.gov, this means that there is death of tissue in the intestine, which occurs when the lining of the intestinal wall dies. For Alessandra, because she was full-term, the doctors expected her to recover without surgery. They started genetic testing, but could not find anything.
Two days later on December 31st, the Lopena's celebrated their first wedding anniversary, which they spent watching their daughter fight for her life. Two days after that, on January 2nd, Melissa got a phone call that no parent wants to receive. The hospital told her to get there as fast as she could, that Alessandra would need emergency surgery and her chances of survival were not good. Melissa says, "I remember the nurse telling me to say goodbye to her. I just gave her a kiss and left her in the hands of the many doctors surrounding her incubator." What else could she do? Her baby's life was literally on the line, so she did what she had to. And then waited. Several hours later, the Lopena's learned that Alessandra came through the surgery, but the doctor's had removed more than 80% of her small intestine. She was diagnosed with Short Bowel Syndrome and given an 80% chance of survival.
At this point, everything else was pushed aside, and at 2 months old, Alessandra was sent to Children's Hospital at Montefiore for bowel rehabilitation. As they left one hospital for another, doctor's said they still did not have an answer as to why this was happening, but at that point, the Lopena's just wanted their daughter to be healthy and to come home. They settled in to the new hospital, which began growth hormone on Alessandra due to her small size. The Lopena's spent the next few months learning how TPN works, how to feed Alessandra through a G-tube, how to care for her central line and what medicines she needed to take and when. Finally, at 5 months old, Alessandra came home.
Also around this time, the Lopena's discovered that Melissa was pregnant with their second daughter, Mia. They were excited, but scared because they still weren't sure what was going on with Alessandra, but they would receive some answers in the next month. Alessandra had an endocrinologist appointment about a month after she was discharged, and it was at this appointment that Kabuki syndrome was first mentioned. The endocrinologist recognized the facial features and sent the Lopena's to a geneticist familiar with Kabuki. This doctor clinically diagnosed Alessandra, and confirmed it with a blood test. Alessandra was 8 months old when they received her diagnosis, and Melissa remembers the day well. "I remember that day. I remember being sad because I didn’t expect a diagnosis like this, but it was relief because it explained most of her health issues that no one can give us an answer for. It was all real now and I was angry. But now, looking back, I don’t know what we would have done if that endocrinologist hadn’t heard of Kabuki syndrome nor been familiar with it," she says. Many of us have had those same thoughts and feelings when we received our diagnoses as well. It's scary and daunting to learn your child has a life-changing genetic disorder that is so rare, we spend half of our appointments explaining to doctors exactly what it is.
Since leaving the hospital at 5 months of age, most of what has plagued Alessandra has been complications from Short Bowel Syndrome. She's been admitted countless times since discharge. Central line infections, stomach viruses that land her in the ICU, multiple UTI's and is currently battling an anastomotic ulcer. This year alone, Alessandra has had 4 colonoscopies, 2 endoscopies, multiple blood transfusions, weeks without real food, anesthesia and antibiotics given too many times to count.
Mia, Alessandra's little sister, has been a blessing from the beginning. She was a great baby who just went with the flow while big sister was admitted every 3-4 weeks for the first 6 months of Mia's life. She spent time at home and with her cousins, as well as with grandparents as Melissa would stay there during admissions to be with Mia while Steven stayed with Alessandra. Her parent's house was much closer to the hospital than their home, so it made sense. Yes, it was a lot of work, but they did what they had to do.
Alessandra, like most Kabuki kids, was delayed in hitting the basic milestones. She rolled over at 9 months, sat and stood up around one year, and began walking close to her second birthday. She said, "mama." around 14 months of age, and has created her own sign language for certain things like water, phone, hungry, hot and cold. While non-verbal, she understands everything that is said to her and around her, and has that impeccable Kabuki memory. She loves to tell you about her day and continues to amaze her family and doctors every day.
Because of the Short Bowel Syndrome, Melissa pushed aside doing research on Kabuki syndrome. She wasn't sure how to deal with both diagnoses and focused on the one currently impacting her daughter's daily life. But after a few years, she realized that Kabuki is just as important as Short Bowel Syndrome, that it's what makes Alessandra who she is, and so she began to research and reach out to people who know about Kabuki. The biggest impact she's had thus far was when she attended the conference at Johns Hopkins because she was finally able to meet families who understood, families who had dealt with many of the things Alessandra had gone through. And she got to be around people who wouldn't judge her daughter for being different, for communicating differently, for eating differently, for walking differently. They were accepted for who they are, all of them, and that's so important when your child has a rare disease. Finding people who get it makes a massive difference in our ability to continue to care for our children!
Alessandra improves every day. She struggles with talking and eating, but Melissa is confident that she will get to a place where communication isn't an issue. Whether it be signing or using words doesn't matter to her, just so long as Alessandra is understood. Their little Peanut, a nickname given by her grandfather, will be 4 at the beginning of January.
Alessandra’s Favorites: "Alessandra loves to pretend cook with her toys, she loves to take care of her baby dolls, loves to go for walks. She loves to sing and dance, she loves music. She loves pasta, McDonald’s, and KFC. She hates water, hates being ignored, and hates vegetables."
Alessandra’s Relationship With Her Siblings: "The girls are 13 months apart and her sister, Mia, has been a blessing for Alessandra. She takes care of Alessandra, tries to help with her medicines and feedings. We are trying to introduce the “medical” life into their worlds and they are beginning to understand it. As they both get older and Alessandra is admitted into the hospital, they both realize that the other is not there and they miss each other. There are more tantrums than not when they are apart because as much as they understand that Alessandra needs her “boo boos fixed” by the doctors, in their world, it feels like years. Playing doctor has become a daily game. Mia, for a 2 year old, is patient with her, cheers her on with us when Alessandra tries or does something new. Being that Alessandra is non verbal, sometimes it is hard for them to converse but Mia is getting used to her sign language and is beginning to understand what Alessandra is saying. They both learn from each other and have a great relationship. They are each other’s best friends and it is becoming more apparent that as they get older, they will be taking care of each other."
Advice for Kabuki families: "My advice is to ask for help for anything and everything you need. You cannot go through this alone. We are only four years into this journey and I know there will be more obstacles thrown our way, that I know, we as a family, will need help getting through. Become an advocate for your child and ask questions, even if you think they are dumb or they may not make sense because you don’t fully understand everything going on. They only way to understand what is going on is to ask and start conversations. Reach out to different doctors, nurses, other parents in your situation that might be able to give you that little bit of help that will open a door, full of answers."
Advice for parents of “typical” children: "I would like other parents to know that just because Alessandra has a diagnosis that doesn’t mean she can’t do things everyone else does. There are things that my younger daughter has trouble with that Alessandra doesn’t. Everyone is different, everyone excels at different skills; what matters is that each person pushes themselves to learn from other another. Teach your kids to be kind, helpful, and grateful to everyone. You never know how great a person can be without getting to know them.
One of the things I said to my mom while she was in the NICU was I am not strong enough for this. But you become strong, stronger than you ever thought you would, just like your child. There will be times you are scared and nervous but there will also be wonderful times where you just watch your child do something doctors said they wouldn’t do or you thought they wouldn’t do. Those are the times you remember and gain strength from.
How Alessandra has impacted the family: "My family has been through a lot since she has been born; things we never even thought of happening, happened. It has changed us and opened our eyes to a lot of things. We have come to realize that sometimes things happen that are out of your control; not everything can be planned. When we look into the future it’s not in years or months anymore; we go by each week. It’s come to the point where we realize each day is not always the same and we have to adapt with what comes to us. When we go through the week, doing the same things and everything that was planned for that week happened, that means it was a good week. And we move onto the next week.
For four years, I have been through a roller coaster of emotions being a Kabuki parent. I was angry at first, bitter and jealous when I saw anyone having children with no issues, just living a “normal” life. Once I looked beyond the health issues and medical aspect of her life, I saw that Alessandra is an amazing person and we are so lucky to have her. My mom always says that everyone should have someone like Peanut. She can get through many, many obstacles without complaining and I had to start being as strong as she is. Alessandra has taught us how to be tough, how to be strong, how to deal with things when you don’t want to. She may not get through it the way others do or the way others told us she should, but in the end she achieves the goals she sets out to accomplish. There are still days where we get angry and frustrated but what parent doesn’t. At the end of the day we are lucky to have someone so special as Alessandra part of our family and we are extremely proud of her and her sister."
One thing that hasn't been mentioned yet is the amazing support system the Lopena's have on their side. In her words, "We have a great support system. My mom, Lisa, is her caretaker during the day while I work. Both my mom and dad, Larry, are there for every hospital visit, basically everything that happens in both of the girls’ daily life. She is very comfortable with my parents. While in the NICU, she was hooked up to the cardiac monitor so you can see her heart rate, etc. My parents would come to visit and my dad would call her a little peanut because she was so tiny. Her nickname, Peanut, came from those moments. My dad would come in and say, "Hi peanut," and they would see her heart rate go up and since then that has been her name. Now all the doctors, nurses, staff, and family members call her Peanut. My parents helped raise her, especially during her first year because my husband and I were scared and relied on my parents heavily for support. There are not enough words or actions to show how grateful we are for them and we know we could not be handling this journey without them."
Not only is it amazing to see the smiling face of a little girl who nearly didn't get to come home, but it is heart warming to know that this family has such a great support system in place for their girls. Alessandra may have a long road ahead of her and a lifetime of being in and out of the hospital with Short Bowel Syndrome, but if you see her on the street, she's more than likely wearing that infectious Kabuki smile and walking around like it's just another day. She's simply amazing!