Our rare little family is from Oklahoma. Our family has had quite the battle with rare children, as our oldest daughter has a rare malformation and our only answers come from Cincinnati Children’s Hospital. We first found out there was something wrong with our second child, Kynlee, while I was pregnant and we were devastated. Kynlee was born with an enlarged bladder and while we thought learning to catheterize a premature, fragile baby was our only worry, Kynlee’s condition changed for the worse shortly after she turned 2 years old. Kynlee had her first stroke and we were stuck in a hard place with a medical facility that had no idea what was going on or what to do for her. Seven months and a couple mini strokes later, we found an amazing team of specialist at Cook Children’s Hospital and they have brightened our hopes and opened a path for Kynlee to live the best possible life. Since finding these special doctors, Kynlee has had heart surgery to repair an AP window, extensive dental work, seen countless specialist, and is the happiest little girl who battles through each and every day.
Kynlee is a go-getter! She is constantly going and no one knows how she does it. She loves playing outside, swinging, riding the 4-wheeler with her dad, watching Spirit, and playing with her friends and siblings. Kynlee’s day to day is usually low-key on the days we don’t have doctor’s appointments. We wake up with a neurological check and determine what kind of day Kynlee will have. As with most ACTA2 kids, she has good and bad days. Most days consist of keeping hydrated and maintaining happiness for us. Those are our top two priorities because in all reality a stroke can happen at any second regardless of what we try to prevent.
The past few months have been the hardest for Kynlee due to the large stroke she encountered on April 1st. She has still not regained full function on her left side. This has been difficult for us because with her initial stroke she regained full function much quicker. She works hard every day and just wants to be able to get up and go play. She is making progress, though, as she can now walk with assistance and we try to incorporate physical therapy at home while playing throughout the day. She gets worn out so quickly she has a lot of down time watching Spirit and videos of other kids playing on YouTube. She has a lot of frustration being a 4 year old and not being able to act like a 4 year old. We, as parents, try to make her days a little more exciting by doing special activities, shopping for new toys, or having surprise visits and phone calls from friends and family! It is also really hard for a 4 year old to understand why her limbs aren’t working or why she can’t just get up and go like she is used to. She is strong and has been making the best of it!
The MSMDS Conference was a mind-blowing experience that we are so grateful for. Not only did we get the opportunity to meet a team of doctors and ACTA2 members who are so knowledgeable of this disease, but we also got to meet families who understand our struggles. We brought home so much knowledge to help Kynlee even more. Once we returned home we had the opportunity to get Kynlee into an inpatient rehabilitation facility, here in Oklahoma, thanks to the referral by the Boston team. In two short weeks we learned so much and Kynlee gained a lot of strength, improving in so many ways. She had to have PT to build her strength up to walk and OT to help get her hand open and close to be able to grasp things. They went out on a limb and casted her right arm to force her to use her left hand and they had never seen such a calm, achievable moment each time she put the cast on. They assisted with medical equipment and other resources to make life easier on Kynlee. Not only did this facility help Kynlee mentally and physically but we made the best of friends while there. She had a glimpse into the education world while in rehab and they have also directed us in the right direction to get Kynlee into Pre-K in August. Kynlee going to school is a difficult process since her current state could change at any minute of any day. With the help of the school and this facility, we are looking forward to this next step! I don’t believe any of this would have been possible without finding ACTA2 Alliance and attending the conference in Boston.
It has taken a whole army of family and friends to help our family strive with love and happiness through these most difficult times. We definitely could not have made it this far without each and every one of them. We have had an outpour of prayer warriors, donators, and support through this journey. We can’t even begin to express how blessed and grateful we are. We also never thought we could gain more knowledge about ACTA2 until we found this amazing group on Facebook! Finding families who are faced with the same challenges as us makes us feel like we have struck gold. We want to thank the founders of ACTA2 Alliance that made all this possible!
The Thomas Family
Foundation for Aortic and Multisystemic Health
Foundation for Aortic and Multisystemic Health