Aloha and welcome to our Support Registry, we deeply appreciate you taking the time to be here with us.

January 31, 2024 marks a day we will never forget. Just 4 days after celebrating her 1st birthday, our sweet, magical daughter, Swara, was diagnosed with BPAN, an ultra rare neurodegenerative genetic diesease. In early January, we took Swara to the ER after she began having episodes of unusual movement. She was admitted after an EEG in the ER showed epileptic discharge. Over the course of the next 6 days she underwent numerous tests including an MRI, spinal puncture, longer EEGs, countless blood labs and ultimately, the least invasive of tests, a genetic panel to screen for genetic markers associated with epilepsy. Her MRI came back abnormal yet the abnormality was inconclusive and was initially believed to be evidence of the siezures she was having.  She also had several other symptoms that were difficult to explain. Several weeks later the genetic results put the MRI findings, her unusual seizure activity, as well as some gross motor delays into a new and entirely unexpected perspective. Since that day, we've learned that receiving a BPAN diagnosis within the same month that she started exhibiting larger symptoms puts us in the the minority of BPAN families, many of whom receive numerous mis-diagnosises before pursing genetic testing.   BPAN (Beta propeller associated neurodegeneration) is a result of a mutation on the WDR45 gene on the X chromosome and is most often a denovo mutation, meaning non inhereted. BPAN was only discovered in 2012 and there are currently around 500 cases known in the world, though there are likely many more undiagnosed. Swara is the first person to be diagnosed in Hawai'i. As with many rare dieseases, there is more unknown than known. We know BPAN is a spectrum disease yet we have no indication where Swra is on the BPAN spectrum yet. BPAN does not yet have a cure or specific treatment though research is making headway. 

This diagnosis has rocked our world. We've thrown ourselves into reading everything we could find online (there's not much!), connected with a Facebook support page, and have created a schedule of supportive therapies and early intervention for Swara. We also have been trying to educate ourselves about how to support Siddhartha around this journey of change for our whole family.

 In September we will be traveling to The Children's Hosptial of Philadelphia (CHOP) to attend their BPAN clinic, the only one of it's kind in the world. The team at CHOP will establish communication with our team in Hawai'i to offer support and expertise as we navigate along this uncharted course. 

So many of you have asked how you can help. We created this Support Registry becasue we know our family will need support in so many ways for the long haul. This registry provides multiple options to support us as well as gives us a space to provide updates.  Meals have been SO helpful during/after hospital stays, childcare/activities for Siddhartha has also been so crucial around hosptial time. We plan to update and customize our needs during times such as those. In the meantime we are grateful for your support around our upcoming trip to CHOP and costs associated with that as well as our January hospital time. One of our goals for the future is to utilize this space to help fund research towards a cure! Stay tuned for more. 

We want to bring you along with us on our journey. We deeply appreciate you all. 

Mahalo nui loa,

Swara, Siddhartha, Ravi and Anna