At the end of April, 5-year-old Scarlett Coffos was diagnosed with an extremely rare syndrome. After a 2 year journey to many doctors and being misdiagnosed repeatedly, a genetics doctor was finally able to identify this rare syndrome that has many names: Parry Romberg Syndrome, en coupe de sabre, Linear Scleroderma, Localized Scleroderma…. There are also many forms of scleroderma but the one Scarlett was diagnosed with has been affecting the right side of her face. It causes atrophy to the tissues and muscles, affects the bone structure, and can cause lesions in the brain. PLEASE CONSIDER SUPPORTING THIS FAMILY AS THEY TRAVEL TO PITTSBURGH FOR SPECIALIZED TREATMENT FOR SCARLETT. Let's help relieve the financial burden and allow them to focus on their precious girl and her healing. Greg and Evie's journey: About two years ago or so we noticed the right side of her face looked inflamed. It appeared swollen, red, & blotchy. Over the course of the last two years, it shifted and began to look “slimmer” and the areas that were blotchy started to look like a dark purple and seemed like they were hardening. She was also losing hair in her right eyebrow, lashes, and in her hairline. We saw specialist after specialist and Rady's Children’s was convinced it was a type of acquired port wine stain. I guess this is a common misdiagnosis for PRS. I wasn’t convinced and kept having her checked. Mid-last year we noticed a bald pot on her scalp that the derm said was something along the lines of a birthmark that just happened to pop up later in life…. Finally in November of 2024 while brushing her teeth I noticed the right side of her tongue seemed to be veering to the right and looked as if it was “shriveling.” Urgent care told us it was just something that happens when children get viruses…I wasn’t convinced of this either. So I got an appt with an ENT. Thank God for this ENT who agreed that the combination of everything going on was obviously related to one another, and he put in a referral for genetics. That was in March/April and we were told we wouldn’t be able to see genetics till October of 2024. I wasn’t aware of any urgency in the matter so I accepted. But then received a call the next day saying they could take me that month. We saw the genetics doctor at the end of April and she told us she knew exactly what it was and in that moment I finally agreed with her diagnosis. It made sense. This doctor was great in diagnosing Scarlett and we’re so thankful for her, but her knowledge of the syndrome ended there so they put in a referral for rheumatology. Again, I was told I wouldn’t be able to have her seen until October. In the meantime, I began researching the syndrome and looking for other families in the same or similar boat. I found a FB page that led me to other parents of children with PRS who were able to provide me with great info. I was given the name of a doctor in Pittsburgh who is apparently the leading doctor and researcher in the world for this specific disease, Dr. Karen Torok. She had a video call with me and after chatting with her, she made a few calls on Scarlett’s behalf and was able to have her rheum apt moved from October to the first week of May. Which was the following day of our video call. At this point, Scarlett has started a weekly injection of medication as well as monthly infusions of another medication. We will be flying out to see Dr. Torok in August as well. Although it took us two years to figure out what was happening in her body, the protection and guidance of the Holy Spirit has been all over our girl the whole time. We didn’t know what we were trying to figure out, but He did. And he opened up doors for us when we didn’t even know they needed to be opened. He worked on our behalf and expedited appointments when we weren’t even trying to make that happen ourselves. Through this entire process, we’ve prayed for the Lord to heal her and guide us because we didn’t know what was going on. It was such an odd thing, the doctors didn’t even know! But even in this post, which is a mere synopsis of her journey these past two years, we’re reminded of the faithfulness of God. We are believing for a full and complete healing in her body and are confident that her life and story will have such a holy purpose. ❤️❤️❤️❤️❤️
Artículos relacionados
