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Ciitizen is partnering with the SCN2A community and rare disease groups to empower patients and families with access to their health data and advance research.

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Thank you to Hannah for sharing Mabel’s story.. #scn2a #raredisease #isan2021💜Mabel’s Story, told by her Mum Hannah 💜Our beautiful daughter Mabel’s journey started in November 2019. She was a very observant baby, she loved to look at things, and listen, and was early to turn to sounds and laugh at dads jokes. It was at about 6 months we noticed she wasn’t reaching the same gross motor milestones as her peers - she was just a little bit floppier, a little too content to sit and observe, to bat at things rather than grab and pull them, especially when gravity was against her. We found out she has low muscle tone at around 7-8 months and began an investigation to see if there was any reason why. It was at about 10 months that she started having infantile spasms. They were in the form of drop attacks. They were very quick and infrequent, but dramatic enough that it concerned us. We took her to a GP the same day they appeared and was confidently assured it wasn’t seizures. Since we were seeing our hospital’s therapy team the next day we decided we would get their opinion. We were determined we’d catch them on video - but she didn’t have any spasms that morning! Despite that, they were very concerned by our description and expressly told us to get it on video if it ever happened again. She had a couple that afternoon, and we were lucky to catch them on camera. We emailed the videos to our hospital paediatric team. A nurse called us first thing in the morning and told us to come to emergency immediately. We had no idea what to expect. It even felt a bit foolish going into emergency with an otherwise happy and healthy baby! We were immediately put on an EEG and within 10 minutes (Mabel hadn’t even had a chance to get to sleep!) a neurologist came down, hardly glanced at the EEG screen, and told us the brain wave pattern was abnormal - called hypsarrhythmia - and that she was having infantile spasms, a form of seizure. They admitted Mabel to start treatment on Vigabatrin immediately. They were convinced there was a genetic cause, especially with her developmental delays and low tone, so a whole exome sequencing was commenced. The infantile spasms slowly got worse in hospital, so on the third afternoon high dose prednisolone was added to the treatment plan. The next day, we didn’t see another spasm, and were sent home with a very unimpressed baby! After a couple of weeks of treatment, Mabel developed a whole-body movement disorder, almost overnight. From memory, it was described as chorea and dystonia. She couldn’t even swallow her own salvia, let alone breastfeed or eat, was not able to see cognitively and hardly able to sleep because of the compulsive movement. We had only just found out we were pregnant with our second, and now feared there was a life-threatening disorder we might be passing on to our children. It took a week before we tried a Vigabatrin wean on the slim chance it could be a side effect, and, to everybody’s shock and relief, she began slowly improving. Because of this deterioration, the whole exome was expedited. Her spasms broke through a little when the Vigabatrin was weaned, but resolved after a couple more weeks of high dose prednisolone and sodium valproate. About a month later, we received the genetic result. Mabel has a denovo SCN2A mutation, which is an epileptic disorder that can cause developmental delay, intellectual disability, autism and refractory seizures in varying severity. It was such a relief to know she was expected to have a good quality of life. Especially since we had just been faced with the possibility of losing Mabel a few short weeks prior! It took months before Mabel was herself again. She relearned how to breastfeed, sit up with assistance and turn pages in a book. And then we got to enjoy 6 months spasm and seizure-free, with lots of fun and learning along the way! Her infantile spasms did relapse after those months, and we tried to find an alternative, long term treatment - we increased her dose of sodium valproate, added topirimate and colanazapam, the ketogenic diet - tried high dose B6, and IVIG. But in the end, it was another course of high dose steroids that stopped them. She has lost many skills with the oncoming of spasms - she has lost the ability to turn pages in books twice, as well as grasping and reaching for things, smiling and laughing. Some of this is medication-related, and some because her low tone makes it harder to recover her strength and coordination. They haven’t dampened her motivation to try to move, and smile, and engage, even though it’s so hard for her, and she’s just as cuddly as she ever was. We still see some infantile spasms breakthrough when she’s sick. They’re very persistent! But they aren’t as pervasive as they were, we’re very thankful for that. She now has tonic seizures as well, about once a week when she’s well. They’re definitely scarier when she’s sick and they happen every hour. There’s a long journey ahead, especially with Mabel’s underlying cause, and we’re thankful for every step we get to take with our daughter. She’s taught us so much! I never imagined anyone could be so sweet and gentle, and yet so determined to pave their own way through life. I would encourage families to seek mental health care. Unfortunately, it seems Medicare doesn’t cover family sessions with a psychologist, but individual sessions can still go a long way to learning how to deal with the stress, anxiety and grief of having a medically complex child. It can be easy, especially in the beginning, to get caught up thinking about how a child’s disability affects us. About how our ideas and ideals, hopes and dreams for the future are suddenly impossible in the way we imagined. We want life to be easier for our children, every possibility attainable. But everyone faces challenges. And everyone is different. And nobody knows exactly how their life will go. And things will always change, for better or worse. It’s important to make time to sit in the moment and appreciate what is true and real now, without comparison and judgment on what was or could have been. Thank you Hannah for sharing Mabel's story with our community, as part of Infantile Spasms Awareness Week. Infantile spasms, also known as West Syndrome, are a rare and serious type of seizure. Many children who have infantile spasms can experience developmental delays, intellectual impairment and other comorbidities.Do you have any questions about Infantile Spasms? Let us know in the comments below. ... See MoreSee Less
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INDUSTRY UPDATE:Praxis Precision Medicines has announced that data from its rare disease programs will be delivered in three presentations at the American Epilepsy Society 2021 Annual Meeting, held December 3-7, 2021 in Chicago.SCN2A Australia and Asia Pacific is attending AES and will provide updates from SCN2A presentations and DEE related presentations.Praxis said... “We look forward to presenting data at AES on our small molecule rare disease programs, including PRAX-562, a persistent sodium channel blocker, and our KCNT1 inhibitor,” said Steven Petrou, Ph.D., chief scientific officer and co-founder of Praxis. “We are proud to have built a broad pipeline of small molecule and antisense rare epilepsy programs, including PRAX-562 and our lead ASO, PRAX-222, which are both expected to begin first-in-patient trials in the coming months. As these programs have advanced, our portfolio of differentiated treatment approaches for rare epilepsies with significant unmet need has expanded and progressed. We expect to declare a development candidate for the KCNT1 program in the coming months and, through our antisense collaboration with the Florey Institute of Neuroscience and Mental Health in Australia, we are excited to continue research efforts into epilepsies caused by mutations in SCN2A, SYNGAP1, PCDH19 and additional targets currently under evaluation.”MORE INFORMATION HERE:investors.praxismedicines.com/news-releases/news-release-details/praxis-precision-medicines-prese...#SCN2A #raredisease #AES2021 #EPIELPSY #DEE ... See MoreSee Less
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