AHC Family Profile: Meet Lexi

AHC Family Profile: Meet Lexi

Lexi #2Meet Lexi- newly diagnosed with AHC

Here are the words of Lexi’s mom Jaimi:  My daughter’s name is Lexi and she was 24hrs old when our lives changed forever. Lexi was taken to the NICU for what we were told was tremors well when we went in they told us she was having seizures and so a week later we took her home on seizure meds and for the first couple of months she was having lots of episodes which put her in the hospital each month for at least 3-7 days at a time.

For the first 3 years of her life she has been hospitalized at least once every month or so and many ER visits between the hospital stays. She has had a med port placed because she has always been an impossible stick and was stuck 27 times in one day in order to give her rescue meds to stop her episodes.

On Halloween of 2011 she had a 3 1/2 hour episode and she quit eating and drinking by mouth so they had to place a feeding button so that she would survive and to this day she still does not eat enough to sustain life.  She has also had a muscle, skin and liver biopsy done which only showed an unknown muscle myopathy but she was still undiagnosed.

As the months went by, and turned into years, Lexi’s many doctors continued to try and find out what was going on so they did multiple genetic test which all came back normal. One did mention the possibility of a rare disease called Alternating Hemiplegia of Childhood, but as there was no test for it at the time, the Dr’s gave up and told us they just didn’t know what was wrong with our daughter.

LexiWe didn’t give up!  We found her another Dr and he told us she was very complex and didn’t know what he could do for us but he would try. He sent her to a geneticist and she looked through all of Lexi’s tests and suggested we do the whole exome sequencing test.  The analysis took 6 months, which was the longest 6 months of our lives, but it finally came back August 1st 2013 and we finally had an answer to our daughters uncontrollable seizures,  developmental delay and failure to thrive  she was indeed officially diagnosed with the  rare genetic condition called Alternating Hemiplegia of Childhood. Finally after 3 ½ years we had an answer!

When we found out that Lexi had AHC I set out trying to find someone else that had this and so I posted on mommies of miracles about Lexi’s new found diagnosis. Another AHC mom, Renee Wuchich, saw my posting, and introduced me to the organization she had co-founded with her husband Jeff: Cure AHC.  Everything fell into place. I joined the group Cure AHC on facebook and they have been so amazing! They led me to Dr Mikati and we were able to get in to see him right away. I spoke with Jeff and Stacie (the Cure AHC Family Support chair) quite a bit before our appointment and they were so informative and such a true blessing. Jeff also arranged mine and Lexi’s hotel so that would be one less thing I had to worry about. Being able to meet Jeff in person was also highly helpful as I was full of questions.

We look forward to coming back to the Duke AHC clinic in December, and are glad that Cure AHC is raising funds to help us get there. We want to give Lexi the best shot at growing and developing that we can, and to help push research to cure this disease. We think the Duke team and all the doctors and scientists they are working with will be able to help Lexi overcome the challenges of AHC.

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