My name is Anika and I am 10 years old. I was diagnosed with Peutz-Jeghers Syndrome when I was 8 years old. Peutz-Jeghers Syndrome (PJS) is caused by a mutation in the STK11 gene. I don’t only have one mutation…I have two! WOW!!

 My doctor says this disease can be a little different for everyone. PJS causes me to have freckles on my lips and when I get a lot of polyps I have stomach pain and I get full faster. I see my GI doctor every 6 – 9 months to have an endoscopy to take out the polyps in my stomach. Every two years I have to have a colonoscopy and swallow a little camera to see if there are any polyps anywhere else. My mom has PJS too. She was diagnosed two months after me. That’s incredible!! I want to raise awareness for rare disease all over the world for kids, teens (and grown-ups too). Even though I have this disease I have HOPE…it’s in my genes!!

I am Michelle, Anika’s mom. Along with Anika, my husband Josh and I also have a daughter Bethanny who is 7 years old. She doesn’t have PJS, but she does have a heart for helping her sister when she isn’t feeling well and the spunk and energy to help Anika raise awareness for rare disease! I am so proud of Anika for telling her story so that she may help others, which is her ultimate goal and her greatest joy in life, and of Beth for standing by her side.

As Anika said, Peutz-Jeghers Syndrome (PJS) is caused by a mutation in the STK11 gene which is a tumor suppressor gene. The polyps that grow in the GI tract can cause problems such a recurrent bowel obstructions, chronic bleeding and abdominal pain. As Anika grows up she will begin to have more screenings and tests since those of us with PJS are at an increased risk of developing certain cancers. Her doctors have told us that because she has two mutations she may be at an even greater risk for all things related to PJS.

What Anika didn’t tell you is that her life has been affected by two other diseases. Anika lives daily with Secondary Carnitine Deficiency which was diagnosed around the same time as her PJS, both after years of searching for a diagnosis. She has some muscle weakness, fatigues easily-especially in the heat, and has frequent low-grade fevers (these are just a few symptoms that affect her).  In February of 2012 she had neurosurgery to remove an Aneurysmal Bone Cyst from her temporal bone…Aneurysmal Bone Cyst is also on the rare disease list.

Despite all she endures, Anika seems to find a way to make the best out of everyday and refuses to hide behind her diseases. We are taking Anika’s lead in enjoying the simple things in life, seeing the beauty in the unexpected and taking things one day at a time -relishing in the HOPE that comes with the beautiful sunrise of each new day!!

 

 

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