Juliana’s Rare Syndrome and the App That Brings Her Care Team Together

I sensed things were not right during the pregnancy [Music] all her measurements ended up showing she was normally she was growing normally [Music] but at Birth she definitely had um dysmorphism we had more genetic testing at probably three different hospitals skin biopsies just lots of things [Music] no one could get agreement you couldn't get more more than one geneticist to kind of make a statement and two would never agree and it puzzled them and they knew that she had something where'd you go to school I graduated eventually just say okay we're treating what she all of her developmental needs and that's all we can do anyway this picture is Juliana's graduation picture from Fontainebleau High School she was so happy [Music] she was 22 at the time I mean I think she knew she was pretty special I never thought in a million years they would ever find a diagnosis the Hokey Pokey and you turn yourself around that's what it's all about okay stand up come on Juliana was diagnosed with cleave stress syndrome by testing in March of 2021. [Music] she was referred to me by her geneticist at that time for evaluation and treatment of Behavioral changes regression and sleep disturbance give her a hug when we got the diagnoses I had to really learn what Placer syndrome how to explain it and what it is [Music] the syndrome itself is complex and it can present really with a range of symptoms both physical as well as behavioral okay sweet so sweet that's a little sensory thing yeah she likes to smell people hair products I want to say four years prior to our meeting Mom described to me Juliana's demeanor and her joy for Life her you know singing and dancing loving music big smiles and sadly that had really really changed in the months and years prior to our meeting so information was powerful it helped us to understand what was causing this and and relying on the research that's been done to help support patients with cholesterol we were really able to get some positive results and get her back to living and having a better quality of life good girl Dr chalky has been now she's kind of my gate she's kind of like the gatekeeper I think she's kind of my lead coordinating physician which has been such a blessing spaghetti you are hungry okay the my Ochsner app it has been a vital link to working with Juliana that as well as even Sometimes some virtual visits Ann is able as soon as she learns things from the community she participates in she sends them to me and I I feel empowered as her provider that she and I can can partner in the latest studies or the latest feedback we're getting from families Juliana's Health requires so much collaboration that it is wonderful that each position can see my notes to another physician it's been quite the blessing everything to me give it to Dr chalky here here give it to give it to Dr chalky thank you so much there's your heart award for your love for your care love and kindness to kids like me oh thank you so much all done we have seen a big Improvement in her personality it's really more Juliana but we pedal together and we get exercise and then I steer you make Mama work [Music] I'll do everything in my power that I can and I'm going to use all the tools that I have available to me to do that as I think about Juliana's story it's really just the the beauty of Love really I mean her mother bringing her here and um just sharing so much with me really really helping me understand what their day looks like and how that impacts Juliana and how that impacts her family and how important even if we could just make some progress in helping her sleep better at night and helping her to just just smile more [Music]

Channel: Ochsner Health

Views: 1,123

Keywords: Ochsner Health System, Ochsner, Renshco, Oshner, Medical, Medicine, Hospital, Health, Healthcare, Health and Wellness, Innovating Healthcare, Healthcare Innovation

Id: D-ck38NYZ0M

Length: 4min 59sec (299 seconds)

Published: Thu Jun 08 2023