Meet Josie! This superstar can be found enjoying aquatic therapy, giving hugs to anyone and everyone that comes her way, and is a lover of tickles. Josie recently made HUGE accomplishments with communication, making happy noises when she is happy and angry noises when she is upset. To learn more about Josie's seizure journey, the amazing support system Josie's family receives from Facebook, and more, read the interview conducted with Josie's family down below!
1. To start off, can you tell me a little bit about Josie?
Josie is our sweet four year old girl and has Leigh Syndrome, which leads to the degeneration of the central nervous system (makes up the brain, spinal cords, and optic nerve). Josie was diagnosed with auditory neuropathy spectrum disorder (ANSD) at birth and a few month later, while hospitalized for debilitating seizures, she was diagnosed with Leigh’s. The news was devastating to our family and we brought her home after being told she’d be lucky to see her first birthday.
Leigh Syndrome is a rare form of mitochondrial disease which affects all aspects of Josie’s life. She has to use supplemental oxygen, is fed through a g-tube, and cannot sit by herself. She still has seizures, and she has both hearing and vision impairments.
However, Josie is a fighter! After beating her initial prognosis, she has continued to make huge strides. She learned to smile again, has the most beautiful grins, and recently learned to roll over on her own, which is something we've been working on for quite a while! She also loves playing in the water and looks forward to going to her weekly aquatic therapy, which helps Josie move more with less pain and pressure on her joints and muscles.
2. What do you love most about raising Josie?
Seeing her change and grow. The most rewarding part of being a parent is seeing the person your child becomes, but it's even more so when that child has such challenges on them. The first time Josie rolled over we practically threw a party! When Josie was first diagnosed, she lost the ability to smile, but when we first started getting small smiles, we were beyond excited. Now she full on laughs, but every time she smiles is a miracle to me.
3. What would surprise people the most about Josie?
How much Josie truly understands. She is nonverbal, but she very clearly knows what she wants and has her own unique ways of communicating. She knows when it's the end of the day and when it's bath time. She knows when her sisters are nearby and she will turn to them and want them close. She has what we call her "listening eyes." It's a specific look Josie will get on her face when she is paying close attention to her surroundings.
4. What characteristic of Josie do you love most?
Her determination. She goes to multiple therapies every week to help with her motor skills and teach her to communicate. She has had so many hard hits in her life, and her illness makes it hard for her to do pretty much anything. However, Josie hits every challenge head-on and surprises all of us! She learned to roll over (something we thought she would never do), is learning how to sit on her own, and is working on making choices with the help of a switch. She has a sign in her room that says "This Girl Can" and she truly encompasses that phrase.
5. You previously mentioned that Josie has improved a lot with interacting with others. Can you elaborate further on Josie's communication milestones?
Previously, the only way we could really understand what Josie wanted would be to read her body language. This year she has learned how to use a switch to operate a toy consistently. She has also learned how to ask for more playtime by reaching up and touching our faces and will make very obvious happy noises (like laughing or giggling) when she is happy and very obvious angry noises when she's upset. Now we are working on making choices in school and in her daily living activities. She is learning to be more in control of her environment and it's truly opening up a whole new world for her!
6. What does Josie love to do?
Josie is a sweet, easy-going kid. She loves being with her family, being held, and being tickled. She loves any kind of physical play that gives her vestibular input, meaning things that move the fluid in the inner ear. She loves being held in your arms and being tipped over so her head is close to the floor. She will ask to repeat this game by tapping your cheek with her hand. She loves being spun around in circles in your arms or in her Special Tomato chair (a special needs seating system). She would love rollercoasters if she were able to be safely held in one. Josie also loves anything to do with water. Bath time is her favorite time of day and in the summer she is happiest when she's swimming in the pool. Recently, we discovered that the sound of bells or chimes make her laugh!
7. What have been some of the most helpful organizations and outlets guiding you through your daughter's journey with Leigh Syndrome?
I am in a number of Facebook groups for parents of kids with Leigh Syndrome or kids with special needs. Being in those communities is beyond comforting not only for advice but also as a support system to lean on when faced with obstacles. When Josie was diagnosed, I had never even heard of Leigh Syndrome. Those first few months were terrifying and isolating, but finding this online community of parents who have been there and shared their experiences with us has been amazing. That's one of the reasons why I started Josie's Instagram page. I wanted to share her journey with other people and hopefully help another child or parent.
Meet Abby! You can find her hard at work on her modified treadmill or counting all her Disney Princess Little People toys. Abby is also amazing at sign language, and has learned over 200 signs so far at just 2 years old! To learn more about Abby and her speech therapist teaching Abby's Pre-K 2 year old class sign language, Abby's love for traveling (Ireland 3 times and 6 US states so far!), and more, read the interview conducted with Abby's father down below.
1. To start off, can you tell me a little bit about Abby?
Abigail "Abby" Szostek is the dynamic, energetic, terrific two year daughter of Vicki and Dan Szostek from Norristown, PA. Abby is truly proof that there is nothing "down" about Down syndrome!
To set the record straight, Abby does not “suffer from Down syndrome.” No one with Down syndrome actually suffers from it. Down syndrome is a genetic condition where an individual has an extra copy of chromosome 21. This extra copy changes how Abby’s body and brain develop, which can cause both mental and physical challenges.
About three months before her birth it was discovered that Abby had a congenital defect of her digestive tract called Duodenal Atresia, also known as a “double bubble.” This condition has a high association rate with Down syndrome and would require surgery shortly after birth. In addition, the Noninvasive prenatal testing (NIPT) done about 5 months before she was born also showed a high risk for Down syndrome. This was certainly a lot for us to process, We were absolutely overjoyed that our daughter was on her way to our arms but we knew it was going to be a long, worrisome road ahead.
On December 10th 2018 the world welcomed our “Amazing Abby” weighing in at just 3 pounds. After a quick visit with Mom & Dad in the recovery room, Abby was taken downstairs to the NICU at the Children’s Hospital of Philadelphia (CHOP). This became our home for the next 78 days. Much of that time was spent waiting for Abby to gain enough weight for surgery and for her to work through some breathing issues.
Once Abby was discharged from the NICU on February 25, 2019 our life as a family at home finally began. We were absolutely thrilled! The weeks that followed were filled with medical appointments and meetings to arrange Abby’s Early Intervention therapy sessions. About four months after she was born, Abby began both physical and speech therapy. As the months passed, additional therapy services were added to help Abby with her development.
Abby was certainly thriving with all the services she was receiving. She was also on her way to becoming a well seasoned traveler both internationally and domestic. By her second birthday, Abby had traveled to Ireland 3 times and visited 6 US States.
Our journey with Abby brings excitement and joy everyday. But honestly there are also fears and uncertainties. Usually those worries fade away with just a few giggles from our “Amazing Abby.” We truly believe our family and friends are very blessed to have Abby in our lives. She will teach us so much more about life and love and we are lucky to be on this path with her.
2. What does Abby love to do? What is her personality like?
Abby is certainly an outgoing personality. She loves to wave “Hello” whenever we go out and her smile, when she isn’t wearing a mask, totally brightens up any room. Now that we are getting together more often with family and friends, Abby’s favorite group activity is pointing to everyone in the room to learn their names.
Most days Abby can be found on her treadmill watching Sesame Street or rocking out in the kitchen dancing to all kinds of tunes courtesy of “DJ Alexa.” When she’s not showing off her athletic abilities you can find her with her nose in a book or setting up and counting all her Disney Princess Little People toys.
3. What would surprise people the most about Abby?
One thing that might surprise people about Abby is that she walks on a modified treadmill for about 30 minutes each day!
When Abby was between standing and walking and starting her cruising phase, her Children’s Hospital Physical Therapist suggested starting Treadmill Training with Abby. “What wait?!?” I thought to myself. Did I hear that right? 1 year old on a treadmill? She explained how children with Down syndrome because of their low muscle tone typically start walking a year or two later than typical children. There was evidence that with training and support, treadmill training helped infants with Down syndrome learn to walk earlier than they normally would. So we went “all in” as they say and configured our home treadmill for Abby’s use. We started the training in April and by October Abby’s was taking unaided steps around the kitchen. It was an amazing milestone for us to witness.
Even though she is a full on walker/runner now, we continue to use the treadmill with Abby on a weekly basis to continue the progress we’ve made. But, our focus has now shifted to Abby’s speech. She is currently nonverbal and recently given a diagnosis of Apraxia of speech, which is an impaired ability to perform speech movements. We always joke that if only there was some type of speech production activity equivalent to treadmill training :). But we are hopeful that just as Abby began to walk on her own her speech will follow.
4. What is a recent accomplishment/milestone of Abby?
Most recently, Abby started a PreK 2 year old program at a local Catholic School. Her teacher and the therapists that accompany Abby to school say she is doing great and having fun dancing along to songs and listening in on story time. Abby and her speech therapist are actually helping her class to learn sign language as well!
5. What are some of Abby's best strengths?
Multiple medical professionals and therapists have told us that Abby’s receptive language is incredible. She amazes us on a daily basis. One clear example is watching Abby interact with her music therapist. Every Tuesday and Thursday morning Abby attends a virtual music class. The way she picks up the actions and the rhythm of all the songs is fascinating.
Another strength to mention is that Abby knows over 200 signs! We have been teaching her baby sign language very early and by 18 months she knew about 20 signs. My wife & I have really enjoyed learning sign language with the help of our Early Intervention therapist & numerous ASL YouTubers. Signing has not only helped Abby communicate with us, but it has also allowed her to interact with others.
But perhaps her greatest strength is the amazing healing power of her hugs and her laughter.
6. What is your mission as an advocate for Abby?
We envision a life for Abby where she will be accepted, admired, and loved. We will always advocate for her to have access to healthcare and developmental opportunities. We will also support her to challenge the assumptions of others.
7. What has Abby taught you?
Patience. Definitely patience.
She has also taught us that it’s perfectly okay to have a sink full of dirty dishes, multiple baskets full of dirty laundry, and a screen door covered in fingerprints because time is better spent playing princesses, watching ‘Moana’ for the hundredth time, blowing bubbles, or just being silly.
8. What resources have been helpful for you on your journey?
Perhaps the most amazing resource we have found on our journey has been the Montgomery County Down Syndrome Interest Group (MCDSIG). This village welcomed us with open arms and offered plenty of support during our 78 day NICU stay when Abby was born. Their support continues to this day. We have been so appreciative for the insight, care & generosity this community has shown to us.
The Trisomy 21 Clinic at the Children’s Hospital of Philadelphia (CHOP) has been a great resource connecting us with physicians and therapists. For the past 2 years we have participated in the CHOP Buddy Walk that supports the work of the T21 program. The Walk is a wonderful event that brings together friends and family of our local Down syndrome community.
We owe much of Abby’s developmental successes to her Early Intervention and CHOP Therapists. Abby participates in 5 different therapies which include speech, occupational, special instruction, and music.
Lastly, both of us have found online support groups like the Down Syndrome Diagnosis Network (DSDN) to be extremely helpful. Connecting and sharing with other parents not only throughout the country but around the world has been another wonderful level of support on this journey.
9. What is the most rewarding aspect of raising Abby?
I think one rewarding aspect of raising Abby has been the introduction to all the amazing “Mama & Papa Bears” in the Down syndrome community. The way we lift each other up during tough days and the way we celebrate milestones is something special.
But the most rewarding aspect of raising Abby is hearing her giggles everyday.
10. What message/advice would you like to give other families who have a child/children with special needs?
Don't sweat the “not yets.” Right now, Abby is “not yet” speaking; however, she is babbling up a storm and works so hard with her speech therapists. We know she will speak but it’s just going to happen on her own schedule.
Without a doubt the “not yets” hit really hard some days. You’ll see other kids similar in age to your kiddo who are functioning at higher levels. You’ll feel that lump forming in the back of your throat, you’ll hold back some tears and begin asking yourself “Why?” In those moments it’s best to take a deep breath, step back and remember our kids march to their own beat and set their own schedules. They also give the BEST hugs.