Jennifer Mastrianni
I live in USA My sons name is Adam Sorge. He just turned two on April fourth! His diagnosis is Norries Disease. He was first diagnosed with bilateral congenital cataracts. But once they removed the cataracts they saw he was completely blind and then at 2 months we found out he had Norries through genetic testing. I would say the most challenging moments were when he was first born and had to be transferred to Cohen’s Children’s hospital. Watching him being taken from me and put into a clear travel container all strapped in had me feeling helpless. I was stuck in the hospital with nothing but his hat they left behind. I felt like I was dead. After we were able to visit him in the other hospital it was still painful but it got a little easier. His diagnosis of being completely blind was another very bad moment. And two months later- the Norries Diagnosis hit extremely hard. I was depressed for a long time after that. I have to say- family and friends definitely helped but joining the Norries Group really opened my eyes to how capable these boys are despite their disability! Honestly - Adams grandmother Kristen has been extremely supportive and has such a beautiful bond with Adam. He’s my first child so I had no idea about my skills at motherhood! Haha! but you adapt and learn because that baby is yours and unconditional love takes the lead. I definitely find myself less interested in things that are more visual based. I always pay attention to things I know my son would love like silly sounds or textured things he could touch! An activity my son and I do together that we both love is the pool- going for walks outside and vacuuming! As silly as it sounds he loves the noise of the vacuum and when I start cleaning he immediately walks over and touches the handle! It’s hard to find time for myself during the day but usually after he goes to bed I enjoy watching a show. I also enjoy my shower time and luckily his Father takes the lead a lot! My favorite Mother’s Day gift is my son but I was blessed with so many gifts from my family my first Mother’s Day and it made me feels so special!
Katrina Jones-Lewis
Where to begin. We are in the United States my son, Martin is 7 years old. My greatest support system include my husband and my siblings. My family has laughed, cried and prayed with and for us. My approach to motherhood was always “mommy can fix it” I enrolled him in everything I could. I pushed and pushed. I enrolled in Braille grades 1&2, took ASL courses, went to NFB conferences, ABCA, speech therapy, OT, PT, O&M. You name it and we did it. I so wanted him to be on my timetable academically and he just wasn’t. After coming to terms with that I was able to simply enjoy my son and the things that HE enjoys: tickle sessions, music and me singing songs he hums, figuring out which song he wants me to sing or play for him, rough housing, and cuddle time. I recently rejoined the work force but I make my own schedule. I block off time from 3-7 to ensure I am with both of my kids until bedtime. It’s important that I don’t sacrifice quality time with them for a dollar amount. My fav Mother’s Day gift is understanding that specified date is just a way to make money for companies. I am a mom everyday 24/7. That doesn’t make me a saint, it’s just a truism. Remaining humble about my role in this family we have created is what’s important and long lasting.
Sherice Pinion
Oswald age 2 His age of diagnosis was 6 weeks old -NDP gene mutation. We live in the United States. The most challenging time for me is now. He is old enough to do a lot of things but going anywhere is extremely challenging because he is learning to use his cane. It’s not easy doing any of it and he is loud not easily entertained while shopping or anything so I just try to avoid it unless I absolutely have to go. For mobility I try taking him to stores with large isles and the party store is a good one. To get through dark times I have had to talk to family and work hard to be positive about everything even if it’s not what I want to hear. Oswald's father has been supportive through everything and I could not do it without him. I am more involved and more creative with Oswald then I was with his older brother who does not have Norrie. The unknown of the disease is scary and I am under constant stress. We love swimming together he has loved the water since he was born. We made it a priority for our home to have a pool so he can enjoy it everyday! I have NO time for myself because of his blindness and his age I am home and his dad works. He leaves at 5am and gets home about 6pm M-T and Friday’s he is home around 2pm. I will go get a mani pedi or walk around the stores. I don’t have time to work out like I want to or anything that I used to do. With the times dad leaves and Oswald's schedule it’s not possible for me to go in the mornings. Evening I am doing dinner bath bed etc. I am usually working on adapting materials or scheduling Oswald's appointments during the time when dad is home or nap times. I hope that this all gets easier with age and him being able to go to the school for the blind for preschool. I hope to finally have some time for myself. My favorite Mother’s Day gift was a painting Oswald and his dad made for me with breakfast in bed and a day for myself.
Libra Nieves
My Name is Libra, I live in Springfield Massachusetts, I have 2 sons with Norrie. Joél (joe-el) was born in 2009 he was diagnosed at 11 months of age by a pediatric ophthalmologist in New York. He had one of the most severe cases of Norrie. He would have back to back seizures constantly, which ultimately lead to his death in 2012 at age 2. My son Leahni (lee-uh-nye) will be 4 next month he was diagnosed at 4 weeks old. Leahni is also a more complicated case of Norrie and his gene mutation is identical to his brothers. He suffers from severe developmental delay, apnea, seizures, cataplexy, failure to thrive, mao-a and mao-b deletions. Leahni is currently at a 3 month old level no walking, talking sitting or even standing at this point. The most challenging thing for me has been not having anyone who has gone through what I have been through with my Norrie Boys. My ability to fight for my kids has gotten me through a lot especially with my older son when Dcf and the hospital blamed me for his blindness and said it was shaken baby syndrome. Until they later apologized after his diagnosis. My mother has been my biggest support and role model even though she didn’t have any special needs children she has been here every step of the way( she lives in Wisconsin) My approach on my children has changed from parenting to advocacy! I speak for my kids and I’m the loudest one in the room when it comes to their needs and overall healthcare! I have become a powerhouse of knowledge on Norrie and there isn’t a doctor on my team that can say otherwise Leahni enjoys sensory play so we do many activities daily that involve textures and sensory play. I love painting and art work as a form of selfcare, leahni also loves sensory art work with acrylics and glitter so we do that together with his younger sister Leia ( age 2) Honestly my favorite Mother’s Day gift is spending the day with my children, life can be short and everyday with them is a blessing.
Carla Golledge
My name is Carla Golledge, my son Cameron is 8 years old and was diagnosed with Norrie at 8 weeks old. He has a deletion on the NDP gene - c.121_128delinsCTG. Learning that Cameron was completely blind was a difficult pill to swallow, but the most challenging part of this journey is the progressive hearing loss, and watching Cameron begin to lose it at such a young age. Their have been many dark times over the years, but what always gets me through is his beautiful smile and his passion for life despite the obstacles thrown his way. Having Cameron, has changed my outlook on life and I now appreciate all the little things I once took for granted. I like to think I am more patient, kind, compassionate and understanding and like to help others who are struggling or in similar circumstances to myself. I want Cameron to experience life with no limits, so we try and get him to participate in all thrill seeking activities together. There is no better feeling knowing he is able to join in and be included as long as the right adaptions are put in place. Finding time for myself is really challenging, having 3 young children, one of which has very high needs, but I use exercise as my release and it has really helped my mental and physical health. I need to stay strong to care for my son the best I can.
Jillian Spencer
My name is Jillian and my son Jensen is 10 months old diagnosed with Norrie disease at 4 months. Gene mutation: deletion of exon 3 in his NDP gene. We live in Iowa in the US. The most challenging thing to accept is the realization that he won’t see every day things like the sparkle of snow, dew on a piece of grass, rainbows inside of bubbles or my face. The dark moments are moments to cry. Sometimes venting to friends and family and sometimes too much to bare even that effort. Having control over my health by exercising has helped but even though I over enjoyed treating myself to sweets as I cry lol. A few select friends have been amazing support but my mom, husband and probably most of all Eve have been my best resource for role model and support. Jensens disease has taught me to ignore the “normal” time for milestones to occur. Then celebrating those successful milestones once they occur. To enjoy the moment that we are in. That I don’t have the time of day for other issues / drama. I enjoy walks with Jensen and all the tickles. I enjoy exercising and venting/educating through vlogging. My most favorite Mother’s Day gift is Jensen saying mama the week of Mother’s Day.
Sam Briggs
Samantha Briggs Country: Canada Son Info: Nolan, 17 months Diagnosis: At 4 weeks of age is when we noticed that Nolan's vision and pupils were not quite right. Having an older son, it was obvious that Nolan was not following me or toys like his older brother did. When Nolan was about 2 months old we were told the news that he had the worst of all three possibilities, Nolan was diagnosed with Norrie Disease. He has the NDP c.109C>T, p.(Arg37*) mutation. I was tested as well and it came back that I was not a carrier. Things that got me through dark times: I've always been a strong person but I will admit, this brought me to my knees and at times my thoughts terrified me. My husband has always been my rock and helped me back on my feet for the most part, but on the really hard days, his support didn't seem to match the darkness. My older sister really pushed me to share Nolan's journey with others and started a fundraiser to help raise money for his surgery. if it weren’t for her push, I don't believe I would be this far in my journey. When I first reached out to other parents and viewed people's stories, Carla Golledge, mother of Cameron was the first to really catch my attention. Not only is Cameron such an inspiration but seeing how fierce his Mama is right behind him was truly an awakening for me. During Covid, self-care seems to be slim to none but I do realize the importance of it. Sharing our journey on Instagram and having other parents reach out to me is a huge de-stressor for me as I get to document our story in addition to helping others. Communicating with my husband is key in self-care as well as I can signal to him very easily when I need a moment. My most treasured gifts are the handmade, pure love gifts like the art work and cards. They make me so proud to see and read as it is coming from the heart. The snuggles and the hugs are the absolute best of course. Getting to sleep in, thanks to the hubby also helps tremendously.