Hello- 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
Hi!I’m Meg, wife to Josh and Mum to Israel, Indiana and Olivia. We live in Brisbane, Australia. Indiana our middle child, who is now 7 – has suffered from complex medical issues. Her story starts as a baby when she was diagnosed with a heart condition - Dilated cardiomyopathy. For 4 months Indi was in hospital as she slowly recovered from heart failure. Whilst Indi was an inpatient we noticed some strange things, Indi’s eyes were always dilated, extremely slow to react. Doctors put it down to an anaesthetic reaction. Indi also suffered from pulmonary hypertension at the time of her heart failure and seemed to struggle with constipation. Some of these symptoms were a little puzzling and hard to find the source. Indi came home, and slowly life got back to normal. A few months after Indi turned 4, she suffered a seizure and a stroke in the early hours of the morning. After being rushed to hospital and a number of scans and tests, Indi was diagnosed with “Moya Moya” Disease. Indi’s scans showed that Indi had suffered many strokes in the past and Doctors were extremely puzzled. Indi eventually recovered and we eventually came home. During this time Indi’s scans were given to a vascular neurologist and she recognised some vessel patterns in Indi’s MRI pictures, she had seen a similar pattern in a child in Vancouver and this child happened to have the Gene Mutation ACTA2.R179H. After some testing it revealed that Indiana did indeed suffer from this particular gene mutation. This diagnosis came shortly after her Moya Moya diagnosis and at the time it was a welcomed answer to all Indi’s strange symptoms. They all added up and they all made sense. From the brain disease to the bladder and bowel issues as well as the permanently dilated pupils. We truly believe that if this particular neurologist didn’t see Indi’s scans and hadn’t witnessed the other child’s scans that Indi would still not be diagnosed. Whilst this diagnosis brought some answers, it didn’t bring many. As many of us know this is an extremely rare mutation, at the time there were no other diagnosed children in Australia and the Neurologist couldn’t offer me much research. This was extremely distressing and lonely, having little research meant no data to go off, we were left with so many questions. At all Indi’s different specialist appointments I had to explain her new diagnosis and give them the one medical research paper I had so they could get a better understanding of how Indi’s little body worked. After some time i came across a group on Facebook, I was so happy to find some other parents who were dealing with exactly what we were going through and could understand our frustrations. Being able to ask questions about symptoms and treatments was huge relief! There is still only 3 children diagnosed in Australia, Indi being the first. There is still little to no awareness of ACTA2 in Australia amongst medical professionals, meaning I am constantly reminding Doctors of this when it comes to creating treatment plans for her. When the idea of the conference came about my husband and I immediately knew we needed to go, we want to meet other families and form those connections in person. We want to have relevant information about all of the aspects of ACTA2 and have recommendations that we can bring back to Indi’s treating specialists back home here in Australia. We are so thankful for the work of the founders of the ACTA2 Alliance, as well as the Specialists involved in researching ACTA2. We cannot wait to join with them in advocating for the children and families who are affected by this gene mutation. When we all work together we can do great things. Thank you for reading! Blessings,Meg Dawkins.
Ella DiCienzo, a First-Grade Student at Westminster Elementary.
ASHBURNHAM — It will once again become a heated competition on the ice as educators from the Ashburnham-Westminster Regional School District face off for the 18th year against members of state and local law enforcement in a hockey benefit game to help a much-loved member of the Ashburnham-Westminster community. This year the game will be played to help the family of Ella DiCienzo, a first-grade student at Westminster Elementary. Ella is a 6-year-old girl who was diagnosed with multisystemic smooth muscle dysfunction syndrome (MSMDS), an extremely rare disease with less than 50 diagnosed cases in the world.Ella has a spark, and once she gets to know you, she smiles a smile that reaches her eyes in a flash. Chris and Penny DiCienzo are grandparents to Ella, who was born with multiple health complications. When she was only 2 months old, Ella suffered heart failure, but fortunately she was in the hospital when it happened. The infant had to go through open heart surgery. “They basically placed a wall in her heart that she didn’t have,” said Chris DiCienzo. “Her heart was so big that when they finally did a chest x-ray, they could not see any of the other organs in her chest. Her heart was basically the size of mine.” Chris said the surgery went well. They noticed Ella had issues with her eyes where the pupils were always dilated. It led doctors down the wrong path of multiple misdiagnoses. When Ella was a year old, she moved in with her grandparents permanently, and they became her legal guardians. Over the next year, Ella had other health complications. “It became more difficult as just guardians to deal with all the health issues,” said Chris. The court became involved and had oversight over medical procedures. The couple was not allowed to make any medical decisions for their granddaughter. Ella stopped breathing six times during a sleep study, and it took six months for the couple to get court approval to get the child’s tonsils shaved and her adenoids removed to counter the problem. Soon the grandparents realized they needed to adopt Ella just to prevent the conflicts with the courts. Chris and Penny worried what might happen if there were a medical crisis. In the summer 2014, Ella was officially adopted. Chris and Penny have five other grown children. All but one had moved out at the time. The couple downsized and moved to Westminster. “We wanted a place where Ella could ride her bike on the street and not worry about traffic,” said Chris. “It was small enough to not worry about the others moving back in,” he added with a laugh. Things were OK until September 2015. Ella had issues, but they were manageable. Chris remembers the date and time when things changed. “It was a Saturday night. At about two o’clock in the morning, Ella gets up and comes into our bedroom and said she was hungry but she really couldn’t sleep,” said Chris. “She woke up because she had a fever,” Penny added. “I sent her to bed with medicine, and I knew I would have to check on her in the middle of the night.”Ella wanted to watch television and have a snack. Then after three in the morning, Ella said she was sick, and Penny grabbed her to go into the bathroom. Chris explained that all of a sudden Penny was calling for him to come, and both realized that Ella could not move. “She had a massive stroke, three of them,” said Penny. “She couldn’t even talk,” said Chris. “It was pretty shocking, a 3-year-old whose body is immobile.” Ella was rushed by ambulance to UMass Memorial Medical Center in Worcester, and after 24 hours the doctor advised that Ella go to Boston Children’s Hospital.It took days for Boston Children’s Hospital to piece it all together, and finally diagnosed her with multisystemic smooth muscle dysfunction syndrome. Chris said the condition was first diagnosed in 2012, and was a difficult disease to diagnose because it is comprised of so many rare conditions the children may not survive to a point where doctors can figure it out.“It’s getting better,” said Penny. Within a few weeks after the massive stroke, Ella got her mobility back. She had to figure out how to walk again, and had to learn again to talk. Chris and Penny both saw she was diminished. They learned that before the major stroke she had suffered smaller strokes. In order to create more blood flow to Ella’s brain, doctors told the couple that she needed surgery where they would redirect veins from her scalp to her brain. Her brain needed to rest first so they sent Ella home to wait six weeks. A week after she came home, Ella had another stroke, and then another. In mid-November Ella underwent the brain surgery. She was sent home a couple of days before Thanksgiving just in time for a family celebration. The next day she had another stroke. The couple had to learn how to inject Ella with blood thinners, and had to learn a constantly changing cocktail of medication. Chris said there were 13 or 14 doctors on Ella’s case, each with his or her own special part of the disease they were watching over. Chris said that now, if Ella has a headache, she is automatically rushed to the hospital. Penny said in one year there were 75 overnights at the hospital, and they went to Boston Children’s Hospital 67 times. Penny has to be really in tune with Ella to watch for signs others might miss. At one point Ella had a stroke and the only way Penny knew she was in trouble was because she dragged her leg for two seconds. “By the time the ambulance got there she was jumping on the back of the couch saying, ‘I’m going for a ride,’” said Penny. When she got to the hospital it was confirmed Ella had a stroke. Penny has become a strong advocate for Ella, firing doctors, telling doctors ‘no.’ Chris has fought for quality-of-life issues, rejecting things that don’t support that for Ella. There are intense migraines that mean a trip the Boston Children’s Hospital, and methods learned to keep that from happening. It has been a huge, continual focus for Penny and Chris. In 2017, the couple took Ella to a hospital for an MRI. The neurologist came into the room after and started to cry, telling Chris and Penny how the disease was progressing and she had no idea what was going to happen. The couple went home with the idea they would have to plan Ella’s funeral. “It’s not like cancer where you can say, ‘You’ve got six months or three years at best.’ They can’t tell us any of that. It was basically that she could have three months, three years, or 15 years,” explained Chris. “They don’t have enough statistics on the disease. There are not enough people with the disease to really know how to calculate the life spans.” The couple looked for a best match for Ella’s medical care. Chris said one of the things that will come from the benefit is funding for the foundation they have established that has an alliance with Massachusetts General Hospital and the University of Texas with a doctor researching the disease. “We set up our own alliance,” said Penny, “but we are having our first family conference at the Mass. General Research Center. There will be several doctors speaking about the disease and several families flying in that have children with this disease. We will all be able to collaborate together.” Ella likes school. She has friends but tires easy. She has learned most recently to advocate for herself. Her teacher has helped her to relearn letters and numbers, though numbers come slow. Though they were told Ella would not feel emotions like other children, Penny said those gaps are slowly filling in. Massachusetts State Trooper David Napolitano, one of the long-standing benefit organizers, said he believes they have accomplished one of their missions even before the upcoming benefit just by raising awareness in the school. Oakmont Regional High School Principal David Uminski, one of the original benefit organizers, said that the one thing Chris and Penny wanted as a focus for the benefit was awareness. “It is bigger than their issue and their family. The people that this affects and the fact there are so few mean we know so little about this. This has been one of the focuses of what we have been doing,” he said. “It is important that the word gets out.” Penny talked about Ella. She said that when they are in the car, she knows every song on the radio.“She decides what ones you can sing along to and which ones you can’t,” said Penny. She loves mirrors,” said Chris. “She loves to look at herself, loves to take pictures, and loves to make videos of other people,” he added. Chris said Ella has made a few unflattering videos of him asleep and snoring on the couch. She loves to climb and jump in ball pits and climb ropes. She loves the lake in the summer. Ella has a special way of connecting with other children. “She accepts everybody, and everybody is her friend,” said Penny. Although Ella doesn’t call it a bucket list, there is a list that the family makes sure to fulfill, and things are added periodically. “We try to make them come true whenever we can,” said Penny. “We have taken her parasailing. She freaked out, but now she wants to do it again.”She wanted to see monster trucks, so we took her to see monster trucks,” said Chris. She has seen Disney on Ice, saw the Avengers/Spiderman show. This summer she plans to go in a hot-air balloon. She really wants to go the WWE SmackDown to watch women wrestle, and she would like to go to the Blue Man Group. “She just adds to the list and we decide when we can or cannot do them,” she said. Chris said Ella inspires him because she gets up daily, even with all that is going on, and faces the day. The benefit begins early in the morning on April 6 with a 5K fun run and road race that starts at 9 a.m. at John R. Briggs Elementary School. Registration is from 7:45 a.m. to 8:30 a.m. The game between Ashburnham-Westminster educators and state and local law enforcement will be held at Cushing Academy’s Iorio Arena in Ashburnham. Gates open at 2 p.m. and the puck drops at 3 p.m. There will be prizes, a vendor auction, chuck-a-puck, chicken bowling, and cornhole game to win Bruin’s tickets, Appearing will be Dr. Hook, Eddie Raymond the Magician, the Overlook Eagle, Peter the Cushing Penguin, and a performance by the Worcester Fire Brigade Pipes and Drums.
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Foundation for Multisystemic Smooth Muscle Disease
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