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Falmouth Nonprofits and Charities

ASXL Rare Research Endowment Foundation

23 Reviews
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Falmouth, ME
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EvaLondon

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.................. <br> <br> 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. <br> <br>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..... <br> <br>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. <br> <br>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. <br> <br>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'. <br> <br>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. <br> <br>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. <br> <br>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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