Meet Tracy and her daughter, Mia, who has an impressive collection of sunglasses, the most glamorous hair we’ve ever seen on a 3-year-old and a very contagious smile. She was born with an incredibly rare genetic condition called Bohring Opitz Syndrome, but we’ll let Tracy tell you more about that below, along with a few of the things Mia loves most and one way we can all help make the world a more inclusive place her and her family as well as others with special needs.
MTEAM: Tell us a bit about yourself and your family.
TRACY FIGUEIROA REGO: My name is Tracy and I am the mother of two kids, Henry and Mia. Henry will be five next month and Mia, three. I am a full time mom, care taker and work part time. I am originally from Indiana and my husband Tomás is from Portugal. My husband and I just finished foster classes and will be fostering a boy soon; our goal is to adopt.
I work part time for an after school program. I keep a pack and play in my classroom so Mia is comfortable. The kids are young, 5-7 year olds, and love having her in the room. They ask a lot of questions especially when they see me feeding her by tube. I am honest with the children and explain that Mia is severely disabled, both mentally and physically. They know she is non-verbal and non-mobile but they don’t understand it’s forever. Throughout the day all the kids will visit her crib and smile. They do not understand her condition, but I believe they know she’s special.
MTEAM: Mia was born with Bohring Opitz Syndrome (BOS). How common is it? Can you explain a bit about what it is exactly for those who are unfamiliar and how it has manifested itself in Mia’s life in particular?
TFR: Mia received her feeding tube at seven months and was diagnosed with BOS by her first birthday. Mia wears glasses and cannot hold her neck up, swallow, suck a pacifier, hold toys, roll over, sit up, walk, talk or feed orally. She is extremely tiny; she weighs 12 pounds and is turning 3-years-old April 28th.
BOS is an extremely rare genetic syndrome. There are approximately 150-200 cases worldwide. This syndrome is diagnosed by genetic testing and is a mutation in the ASXL1 gene. The leading cause of death is respiratory infections. Children with BOS can have feeding difficulties, recurring respiratory infections, sleep apnea, developmental delay, failure to thrive, abnormal hair density, Wilm’s Tumors, Brain abnormalities, silent aspiration, and the list goes on.
MTEAM: Tell us a bit more about Mia! (How old is she? What does she love most? What makes her happy? What makes her uniquely Mia??)
TFR: Mia has the sweetest personality!! She smiles ALL the time and is known for her beautiful hair, eyes and fashion! She never cries and will give anyone who touches her toes the warmest smile. She loves to snuggle her big brother, long walks to look at the palm trees and she loves lights.
MTEAM: What’s a typical day in Mia’s life like?
TFR: Mia likes to stay awake most of the night and sleep during the day. I try and stay awake with her until 1am then she’ll lay in her pack and play next to our bed and play with her toys until 4am. She typically sleeps 4am-1pm. A typical day is therapy, taking both kids to playgrounds or other activities, work, then bath time. Mia has a special bath chair to help us bath her. She also has a wheelchair, back brace, leg braces and a stander.
MTEAM: What have been some of your biggest challenges and the best rewards along your journey with Mia so far?
TFR: It took months to figure out her diet. She was on a feeding tube formula that made her extremely constipated and in pain daily. We now give her a blended diet and she’s doing great. Another challenge is getting Mia to move. She does not move much on her own, so we want to constantly move her arms, legs and torso to help blood flow and quality of life.
Mia is amazing and has touched so many lives. She reminds people to slow down and enjoy the little things.
Because of Mia, we have held multiple fundraisers and raised over 15k for the BOS foundation. 100% is given to the foundation and the funds were raised through friends, family and even strangers since her diagnosis. When people meet Mia they fall in love with her and she leaves a lasting impression.
MTEAM: What advice would you offer to other parents who are just finding out about a Bohring Opitz Syndrome diagnosis?
TFR: We have a Facebook support group for BOS parents. Once a month, someone new will be added and you remember the day when you first received the diagnosis. It’s tough. You know how they feel and how scared they are, but we show each other support, help answer the never-ending questions and share challenges. They become extended family. I always tell them it’s scary at first, but you will find love for that child that you’ve never felt before. The very small achievements they accomplish will light up your world.
MTEAM: How would you like to hear other parents respond if their own children notice and ask questions about Mia’s physical differences?
TFR: We get asked a lot of questions, especially by kids when Mia is being fed by her feeding machine because they see the bag and tube. Most parents will say “Sorry!!” And I’ll tell them, “It’s ok!! We want them to ask!” And I will kneel down and talk directly to the child and explain what is happening. Every child I’ve done this with smiles and says Aweee, she’s so cute” and looks a little confused but happy that I’ve answered their question. Before Mia, I had never seen a feeding tube, so we make it a point to tell everyone about her life and syndrome. One response I hate is when people say “I am so sorry”. Please never do that to a special needs parent. We love our children just like everyone else and we are very proud of her just the way she is.
MTEAM: What key changes would make this a more inclusive world for children with Bohring Opitz Syndrome?
TFR: If you see someone struggling, make eye contact and offer a helping hand. I have been with both kids and Mia in her wheelchair and people will avoid eye contact with me, but stare at Mia. We also struggle with people offering to hold the door as we enter restaurants, businesses, ladies rooms, etc. It is challenging because Mia’s wheelchair weighs a lot, so it’s hard to push it and hold the door at the same time. I know it’s upsetting to see someone so small in a wheelchair, but please don’t avoid us and help when you see someone in need.
MTEAM: Share a memory of one of the times you’ve been especially proud of Mia.
TFR: Just this morning Mia had a bad seizure and fell asleep smiling at me. She and her BOS brothers and sisters are the strongest little humans I know.
MTEAM: What’s one thing you’d like the world to know about Mia or Bohring Opitz Syndrome or medically complex or fragile children generally?
TFR: Medically fragile children are as precious as a typical child. You do not celebrate the same milestones, but you find joy that you never knew you could have. Most will never ask you for the newest video game, bike or iPad because all they want and need is your unconditional love.
Bohring-Opitz Appreciation Day is April 6th.