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Three-year-old Sofie raises awareness for neurofibromatosis

Sofie is a sweet, sunny blonde three-year-old girl growing up in Excelsior Springs. She also has Neurofibromatosis Type I, or NF1.

Neurofibromatosis is a genetic disorder that can be inherited or develop spontaneously. NF causes tumors to grow on the nerves in the body. The tumors are typically benign but can transform into malignancies in a small percentage of people. While each case of NF is different, there are typical signs of NF, such as café au lait spots, neurofibromas (small tumors under skin), lisch nodules, optic nerve tumors, and freckling in the armpit and groin areas. Furthermore, neurofibromatosis can lead to many different issues including vision and hearing loss, optic gliomas, learning challenges, bone defects, scoliosis, high blood pressure, ADHD/Autism, small stature, neurofibromas, early/delayed puberty, and large head circumference.

Sofie’s doctor began to suspect NF when she was two.

“I don’t think that we ever really suspected that Sofie had anything wrong with her. She seemed pretty normal for her age,” said Sofie’s mother Tiffany Merrick.

“It was at her two-year-old checkup that her pediatrician became concerned with the sudden amount of café au lait spots. The pediatrician’s awareness is what really started this journey for us,” Merrick continued. “I think that after she was diagnosed things started to make more sense to us and it clicked. She is getting older and we look for things that we think may be wrong, or that she is struggling with and bring up everything to her doctors.”

In addition to multiple café au lait spots on her body, Sofie also has macrocephaly, which means a large head. Her head also still has a small soft spot. She has a plexiform neurofibroma (tumor) located in her cheek. She also has learning delays, speech issues and low muscle tone.

Sofie also loves playing outside, especially with her sisters, and music.

“She knows so many songs, and sings all the time,” Merrick said. “Sofie looks like a normal three-year-old and usually acts like it, too.”

But, like many families who face a diagnosis, Sofie’s NF has made an impact on the Merrick family.

“We take Sofie’s diagnosis day by day,” Merrick said. “It made a big impact on our whole family. Sofie has a lot of specialist appointments and just recently started also seeing Doctors at the NF clinic in St. Louis due to her needs.”

Merrick said her other girls have adjusted well to Sofie’s diagnosis. She added that her family is constantly learning new facts about NF1, and work hard to advocate for awareness, so that people are informed about Neurofibromatosis.

“There is currently no cure for neurofibromatosis, which is why research is so important,” Merrick said. “All that can be done at this point is to ensure that she gets all of the tools necessary for her care, and she is receiving that from her team of doctors.”

Sofie will have to have annual MRIs to check for new tumors, as well as to check on the plexiform neurofibroma in her face.

Sofie wants you to wear blue and green on May 17 for World NF Awareness Day.

For now, Sofie does well with her diagnosis.

“Although it may change as she gets older, she still loves going to the doctors,” said Merrick. “She powers through the MRIs, and tests like a champ and she has had a lot over the last year. She is truly an NF Hero.”

Team Sofie will be participating in the KC NF Walk in September.

“This is a great way to raise awareness and to raise money for research for the Children’s Tumor Foundation,” said Merrick. “We dream of a cure someday for not only Sofie, but others like her. We are doing our own Team Sofie fundraiser for the walk and taking donations.” Donations can be made online at join.ctf.org/team/152917, through the Children’s Tumor Foundation.

“We are also encouraging everyone to wear blue and green May 17 for World NF Awareness Day,” Merrick added.

To learn more about Neurofibromatosis please visitctf.org.

By Samantha Kilgore • samantha@leaderpress.com

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4 Responses to Three-year-old Sofie raises awareness for neurofibromatosis

  1. keeponfighting Reply

    May 15, 2018 at 7:11 pm

    Hi beautiful girl Sofie,

    I am a 31 year old female with NF1. My parents found out I had it when I was one year of age. I was the spontaneous case of the 50/50. I just want to let you know you can do anything you set your mind to. Do not let anything hold you back. You are so beautiful and from the picture above I can see that you have such a loving soul! Cheese it up with that smile of yours! I have a beautiful baby boy who is just my world and a loving husband. Please.. please never let NF1 define you. I had it tough in high school but that is because I did not listen to my parents. Teenage angst call it but listen to your parents and lean on to your siblings.

  2. Jonathan Reel Reply

    May 16, 2018 at 7:59 pm

    You Sofie are an NF Hero.
    Please research Selumetinib.
    My daughter Lauryn is 4 and been on it for 6 months. 19% reduction so far. Early is the key. Please email me with any questions you may have.
    Good Luck and Keep playing and singing!

  3. TeamSofie Reply

    May 17, 2018 at 4:26 pm

    Thank you for the support! She is for sure an amazing little girl!

  4. Brittany Macy Reply

    July 12, 2018 at 12:22 pm

    Your an amazing lil girl. I live in Excelsior Springs as well. I have NF1 as well. I’m fixing to turn 32. Don’t let it hold you back from anything. I have some learning disabilities, ADHD, Asperger’s Syndrome. But keep on fighting baby girl.

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