My story is as long one but I will try to make this short. I had a very healthy pregnancy, ate perfectly, didn't use scented products, didn't visit salons, didn't use a microwave in my home. I was overly careful Every prenatal visit I was told everything was 'perfect'. My pregnancy was going ideally..................
My little girl suffered since birth, almost lost her life many times, was undiagnosed for almost 4 years even though she was born at the biggest Children's Hospital here in Eastern Canada. When she was born and I looked at her my heart dropped I instinctively knew something was wrong. I asked the Dr standing next to me if its possible my baby had a syndrome, I knew it was not Downs Syndrome , but here eyes were so different, and not a family trait. I saw all the little things and felt sooo extremely guilty like I was picking my new baby apart, when I noticed all the little 'imperfections' like super high palate, her little knees, her nail beds, etc instead of feeling joy and happiness, I was scared. She struggled withe feedings and I was petrified to take her home. Instead of being supported and my baby given the care she needed I was told I had anxiety as a first time mom and should talk to someone.
My baby struggled at home to drink, she would spit up and nearly suffocate. I took her to the hospital and dr after dr countless times expressing my fear and concerns and I again was told I should talk to someone, that maybe I had postpartum depression. This of course added tremendously to my anxiety. No one helping, I feared my baby would aspirate on her spit ups and vomits, she would be so helpless and lifeless when it would happen. For 3 months straight my mother and I stayed up around the clock taking turns holding her up and if she would 'choke' on mucus or milk I would be waken by yelling out of my rest to jump up and suction her. Those 3 months were HELL, where she should have been in NICU but I thought if I can only make it through this time it will be ok. Once she grows out of this stage.....
We all survived her first year of life, however she did not 'outgrow' her extreme GERD and hypotonia or feeding difficulties. Medical professionals now acknowledged she was behind, called it developmental delay and sent us home.
I sought advice, training, participated in research internationally to get extra tips and techniques to teach my daughter to help her catch up, I talked to every medical professional I could, every parent, even pastors and priests, getting prayers from churches known to heal, re baptized, I tried anything and everything. I was desperate to help my baby catch up.
Years pass and I'm still begging and pleading for help, knowing there is more wrong with my baby than delay or autism. I literally prayed ( even though I had lost belief and not sure what I believed in due to my child suffering immensely ) that one day I would know why, have an answer, so I could stop running every single thing through my head night and day. I was severely overtired and depressed and now extreme anxiety as I was not at all supported by our local children's hospital. I prayed to know why my little girl was struggling, and for someone, anyone to care enough to do research. I was told when I finally was able to get her to see the neurology department and genetics that 'science isn't there yet' , 'what is a diagnosis going to change' , 'accept what is'. They did not even want to do the genome as they said that they did not 'have the resources' to test every kid and hers was not likely a genetic cause. She was refused, even though I had been crying and begging for years and they knew how important a diagnoses and answers were to me. Life was a continuous torture of trying to keep my baby safe and alive, watching her in pain and suffering every day, with no one even acknowledging what we were going through and no one caring enough to help diagnose. When I would describe her symptoms they would tell me 'no child has ever aspirated on their milk or saliva' , that ' no child has ever passed away because of that'.
Finally at almost 4 years old, half way across the country we got our diagnosis as part of a research project at Toronto Sick Kids. The diagnosis was a huge relief. Now I could stop replaying everything in my head, and stop spending countless hours a day researching. Getting connected with other families was such a massive comfort and resource. I was connected with the BOS Foundation and then later ARRE. I cannot articulate in words how much appreciation and gratitude I have for the ARRE and all the research that is being done. Literally this foundation and the work they are doing is the answers to MY prayers. Getting connected with researchers and other families makes me feel like all our pain and suffering was not completely for nothing and that hopefully we can prevent other families and children from going through the same.
The ARRE provided an opportunity this past summer for us to meet in Baltimore with researchers, medical professionals, and other families. For the first time my little girl was able to meet another child with the same diagnosis as her. And it was unbelievable. I cried many tears that trip, but happy tears. Tears of joy, and gratitude.
To anyone that has made it to the end of my very condensed but still long story thank you and if you're considering supporting a non profit this one is very special. It is new and growing but needs the support. This syndrome is caused by a de nuvo mutation meaning it was not inherited from either parents and can happen in any pregnancy. There is an increasing number of babies being born with this syndrome ( and so many that go undiagnosed due to lack of medical services or knowledge ). The findings from this research will not only help the children living with this complex syndrome, but also to diagnose children quicker. And we know from past research on medically complex and sick individuals that often times findings can provide insight, treatment, and even cures for other illness that are much more common in the general population.
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After more than 3 years of searching, fighting, 100's of dr appointments and travelling across the country, my little girl finally had a diagnosis of Bohring Opitz Syndrome (BOS). I had a label, but being the first girl in Canada to be diagnosed with BOS there were no resources, knowledge, or support for us. We were all alone. Everything I described to the specialists since her birth was classic BOS, however they have never heard or seen anything like it, so simply dismissed my concerns.
Every time I go to the hospital (which is often) I have to basically tell the team what I think is wrong and request specific testing, as no one knows about this very medically complex and serious syndrome. It is scary and extremely stressful. So much is unknown, my knowledge of the syndrome comes from experience or other families. These children suffer immensely and any pregnancy can be affected as BOS is due to a spontaneous mutation (not inherited). It is imperative that research is conducted so that these children and future BOS babies can be cared for and live as comfortably as possible.
ARRE is the only foundation dedicated soley to ASXL research. They are working towards ASXL centres of excellence. If you have had a sick family member, you can only imagine how it affects us , having a child with such severe challenges, suffering, and medical complexity with no one to help and no answers.
I struggled immensley to just have an answer as to why my little girl was so sick. Now I struggle to keep up with her changing needs and unpredictable development. I am so grateful for the work ARRE is doing. I can't thank them enough, truly. They are the piece of hope that I so desperately need.
ARRE has united a group of families who have a child with an ASXL gene mutation. ARRE has helped us not to feel so alone in a rare diagnosis. This non profit has also given us a voice as well as hope for our children and their futures. ARRE advocates for research and educates families regarding best practices for medical interventions as well as therapeutic interventions. This summer we were able to attend the ARRE Family Meeting and it was an incredible experience to be able to meet other families just like ours!
This foundation is wonderful. They helped with getting us to a convention for my son who has BRS. We got so much knowledge from the speakers. It was amazing for our whole family. It was also really cool to be a part of the calendar. Thanks for all that you do.
We are a family with 3 children and one has the Bainbridge Ropers Syndrome. We went to the conference in July In Michigan organised by the Asxl Rare Reasearch Foundation. This conference has been so rich and helpful for us. We learnt many things to help us manage the disease of our son. It has been helpful for the whole family. The organisation was perfect and the conferences gave us precious informations for us. We also had the chance to meet with other families like us which was so important. Many thanks for your help
I love that the ASXL Rare Research Endowment Foundation is about researching this gene. Our son was diagnosed with Bohring-Opitz Syndrome in March 2015 at the age of 15 years old. He has since become a BOS Angel. I believe that the research needs to be done to help other families like ours.
This is an excellent organization that is providing much needed resources for families asxl. We attended conference and as a newly diagnosed family it gave us so much valuable information and support we needed.
ASXL Rare Research Endowment Foundation has been great the last two years in organizing the second ASXL conference. We were able to attend this year thanks the travel scholarship we received. The event was extremely helpful for us helping us leaning more about this rare condition and also for having the opportunity to discuss with the nation experts in the ASXL associated conditions. The opportunity we had of meeting other families affected by this rare condition has been instrumental in our learning of their management of several co-morbidities associated to Bainbridge Ropers. We are extremely grateful for all the resources provided to us in addition to the travel scholarship, like meals, hotel discounts, etc.
Looking forward to next year conference!!
Our son was diagnosed with Bohring Opitz Syndrome, a very rare genetic diagnosis, in 2014 at age 11. There are only about 100 children in the world with this syndrome so it is very difficult to find information, connect with other families, and have scientists take enough notice to study our syndrome, both for those currently affected and for future diagnoses. The ASXL Rare Research Endowment Foundation (ARRE) has been an incredible resource for our son and our entire family. Being able to attend conferences, connect with other parents, and learn from some of the experts from around the world has impacted our ability to care for our son and his sisters. I can't wait to see what they bring to us next!!
The ARRE foundation has done an amazing job getting funding, awareness, and research done for all of the ASXL genes. My daughter's care is complicated with a lot of nuances and the conferences have been full of experts and other parents that have really helped me stay informed and get my daughter the very best care possible. A huge thank you to everyone involved!
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I have to say a few words about the ASXL conference the ARRE foundation hosted. Our son has Shashi-Pena Syndrome (ASXL2). We had such a great time meeting other families. It was a great encouragement to see other people dealing with some of the same health concerns and behaviors that we deal with on a daily basis. The speakers were informative and helpful. The food was delicious. The environment was supportive, accepting and encouraging.
We are so blessed to be able to go-especially for free!
We hope to be able to go to future conferences as well.
They have been there supporting my family since we found out that my son was diagnosed with BOS. They have been kind and understanding and has given us great support
The ARRE Foundation means so much to our family. When my granddaughter was born, no one knew anything about Bohring-Opitz Syndrome. The ARRE Foundation has given us hope! It funds true research to improve the lives of our children.
Great work being done To raise awareness within the medical community about ASXL syndromes. Only about 300 diagnosed in the world.
ARRE brings research and families together! My family and I were so proud to be apart of ARRE's first annual conference this past July. It was an event that involved learning from top medical geneticists about current research, bio-banking, and meeting other families that share our experiences. This is a one of kind nonprofit that focuses on improving the lives of our chronically ill children. Thank you for all you do, ARRE.
We are thankful for non-profits like ASXL, we hope that with continued research we will know more about how we can help our little ones!
Rare diseases, like Shashi-Pena Syndrome-ASXL2 need LOTS of TLC! And of course "ALL" rare disease need TLC!
The amount of achievements this organization has had in less than a year since its beginning is nothing short of outstanding! I am so proud to be part of its journey!
ARRE does so much to help people affected by the ultra-rare ASXL syndromes! They help families connect, help caregivers be better advocates and help bring much-needed awareness to medical professionals.
The Arre Foundation is so important for families with children with an ASXL mutation, because they bring researchers and so knowledge together which is very important to understand more about these syndroms! The first conference in July 2018 was a very big succes and brought families from all over the world toghether. Such a meet-up is of great value for all the people who are a part of the children with these rare mutation, because so little is told in literature and this way we can all learn from eachother! Therefore it’s so important that this Foundation excists, so if you are thinking about foundraising, please think about the Arre Foundation!
Thank you!
Suzanne Driessen
Coen’s (Bohring Opitz Syndrome) mom.
Finally a non profit organisation who is really dedicated to research. The ultra rare ASXL syndromes (Bohring-Opitz Syndrome-ASXL1, Shashi-Pena Syndrome-ASXL2 and Bainbridge-Ropers Syndrome-ASXL3) are under diagnosed and there is still inadequate knowledge and resources about causes, symptoms, quality of life and treatments. Research is desperately needed!