WATERFORD, Mich. \u2013 Experts say only about 150 people in the world are living with an ultra-rare genetic disorder called CACNA1E. One of those people is a 1-year-old girl living in Waterford. <\/p>\n
Her family says a lack of awareness makes finding treatment hard. They want to change that. <\/p>\n
In May, Local 4 reported on 1-year-old Lorelei Dunn\u2019s story. At the time, she could have lost her shot at lifesaving treatment because her insurance coverage could have been canceled. <\/p>\n
After the story aired, things turned around. But, now, her family wants others to know why that research and treatment is so important on this CACNA1E Awareness Day.<\/p>\n
\u201cShe gets these three twice a day, this one once a day,\u201d Kayleigh Dunn, Lorelei\u2019s mom said. \u201cThese two I have to crush up and mix with water \u2013 which is a lot harder than you would think it is.\u201d<\/p>\n
That\u2019s how mom Dunn begins each day, with a careful routine centered on caring for Lorelei.<\/p>\n
Just a few years ago, Dunn never imagined she would become an expert on one of the rarest genetic mutations in the world. That all changed when her family got the diagnosis. <\/p>\n
Lorelei was just a few months old. <\/p>\n
\u201cBecause of that, it causes her to have a seizure disorder,\u201d Dunn said. \u201cShe has severe hypotonia. She cannot hold her head up. She has no trunk support. Because of some complications we\u2019ve had with eating, she does have a feeding tube.\u201d<\/p>\n
There\u2019s only about 150 people in the world who are known to have CACNA1E \u2013 and Lorelei is one of only 30 with her specific mutation. <\/p>\n
When the diagnosis came, the family was told their options were scarce and nearly nonexistent.<\/p>\n
Then, they connected with a renowned neurologist at University of Michigan Medicine.<\/p>\n
The neurologist told them about a specific gene therapy that could help. Hopeful and grateful, the family wanted to get the process moving.<\/p>\n
But, in May, that possibility was nearly pulled out from under them when their insurance coverage was threatened.<\/p>\n
\u201cIf we had lost our coverage and we were going to have to move, see a different neurologist,\u201d Dunn said. \u201cThere was no neurologist in the state of Michigan that we found that would be willing to take this on. This is a big \u2026 to do what we want to do, they have to agree to a case study. It means long hours, extra shifts.\u201d<\/p>\n
Local 4 told their story and eventually, the coverage was extended. With that, came renewed hope and Lorelei\u2019s chance at treatment.<\/p>\n
Her family says awareness fuels research and research can open the door to lifesaving care.<\/p>\n
\u201cShe\u2019s proven time and time again that she is not defined by her mutation, but it\u2019s my life and it\u2019s tough. It\u2019s tough, right,\u201d Dunn said. <\/p>\n