Our families
Emma was diagnosed in July 2023 at 16 months old with SJIA complicated with MAS (Macrophage Activation Syndrome). We are from a small rural town in New Mexico and because of how rare this disease is, many providers were unfamiliar with it. After many ER visits we were sent to Albuquerque NM to higher level of care hospital and finally Emma was diagnosed correctly.
Emma has had 14 admissions and many ER visits since June 2023. Due to the severity of her SJIA Emma developed ILD (Interstitial lung disease). We were referred to the Cincinnati Children’s Hospital where we have been since June of 2024. As of today we are preparing to undergo a very much needed Bone Marrow Transplant (BMT) on 03/16/25. Emma will complete 2 weeks of chemotherapy and receive her cells on 03/31/25. We had a difficult time finding her donor, but we have decided I, her mother, will be her donor. It’s unusual and much more risky but we are prepared for the complications that come with a lower match donor.
Emma had severe rashes throughout her entire body. She developed fevers that would last many days some as high as 104.7. Emmas also experienced nausea, vomiting, diarrhea, and joint pain. While flaring Emma spends almost the entire day resting.
Emma has been very steroid dependent. After trying many other medications, her current regimen involves a daily injection along with 15 other medications as well as oxygen requirements any time she is sleeping.
Our journey has been rough, but I have hope for my daughter the more I see knowledge of SJIA spreading. We hope this BMT puts Emmas SJIA in remission. Emma is a bubbly loving girl who is still learning about life. She has a twin and the two are a dynamic duo. Even with all she faces Emma makes efforts through her day to be a typical toddler. Thanks to our care team we are able to manage through some of our toughest days. The support does not go unnoticed and we are very thankful.
-Written by her Mother
Updated: Emma has received her new cells.
Meet emma
What started out as what we thought was just a normal stomach bug on March 8th, 2025 turned out to be much more. Everything really started on Friday, March 7th when I noticed Maverick had a low grade fever. I chalked it up to his back teeth coming in. Saturday he woke me up around 4am vomiting, he couldn’t hold anything down until around 10:30/11am. After that he was able to hold food and fluids down, however that same day is when he started complaining of leg pain. He started limping and crawling around but still acted like his playful self. I sent a video to his pediatrician who thought it was likely transit synovitis and would go away. Sunday was a pretty normal day other than some decreased appetite, he was still limping some but he was walking and playing.
Monday he woke up, everything seemed okay. He was still slightly limping but was acting fairly normal. His daycare called me that afternoon that his temp was over 101 and that he needed picked up. Dad picked him up and gave him some Tylenol. When I got home he was laying on the couch watching a movie. He has a history of bilateral mastoiditis so between the fever and the slight limp I contemplated taking him in to get checked out but decided against it as he ended up getting up and wanting to go play outside.
Tuesday I stayed home with him. He woke up with a temp slightly over 103. Every time we were close to the meds wearing off he’d spike right back up to 103. I took him into his pediatrician and he was swabbed for flu, covid and strep- all came back negative. She thought it was likely viral at this point.
Wednesday dad stayed home with him and same thing, meds would be close to wearing off and temp would spike right back to 103. I work with his pediatrician so I had consulted with her regarding his symptoms. She advised we go to the ER to be evaluated to ensure we were not missing anything. The ER did X-rays, lab work, urine culture and a respiratory panel swab. He tested positive for rhinovirus and his lab work was all messed up so we were admitted. The first few days he continued to have fevers of 103+. They were concerned with Kawasaki’s as he had swollen lymph nodes. They performed an echo which came back normal. They also performed an MRI which showed myositis of his glutes and thighs. They were convinced what he had was just viral and that it needed to run its coarse. We were supposed to be discharged on 3/14 that was until his blood culture came back positive. He was started on antibiotics, however the fever persisted getting all the way up to 104.8. 3/14 was also when he started not wanting to get up out of the bed at all. We even had PT come in to try to get him up walking and he was not interested, cried in pain when we tried to get him up.
On March 19th we were informed they were transferring us to Cincinnati Children’s to consult with rheumatology for potential JIA. We were also informed they believed that the original blood culture had been contaminated due to all the subsequent cultures being negative, including the 2nd one they did right before starting antibiotics. I was upset at first but now I almost feel like it was a saving grace to keep us in the hospital to get the care we needed. Thursday 3/20 we were transported to Cincinnati where we got more lab work and an abdominal ultrasound done. His spleen was slightly enlarged and his lab work still was not improving. On 3/21 his lab test for parvovirus B19 came back positive. I had also been working with him on trying to get him up and moving, so he was more active. The hospital staff was fairly confident that could have been the cause of all his symptoms and he seemed to be improving despite still having the fever, we were discharged on 3/22. When we got home his fever was still very much there. Activity wise we had good days and bad days. Some days he laid on the couch all day, other days he asked to go to the park to play. On 3/28 we had lab work done, his hemoglobin was still low and all his inflammation markers were still elevated.
On 3/30 he woke up complaining of neck pain and still had a high fever so we made the decision to take him back to Cincinnati, he was readmitted. This time they did more lab work, a spinal tap and a PET scan. Due to needing to rule out everything else to get the official SJIA diagnosis we had to be cleared by oncology. After the PET scan was complete on 4/2 oncology and rheumatology came in and stated they were fairly confident Maverick had SJIA. The plan was to try a dose on Kineret to see how his body responded and to repeat lab work the following day. His lab levels had improved significantly and they were able to officially diagnose him with SJIA. Since being on medication his symptoms have been week controlled he was on Kineret daily until 4/22 and started Ilaris every 28 days on 4/23. I am hopeful to keep his symptoms well controlled. I am forever thankful for the team at Cincinnati Children’s for helping us get the answers we needed for our boy
-Written by his Mother
Meet Maverick
Shortly after Emmie's second birthday, she developed a fever and rash. Her pediatrician initially suspected a virus and advised us to return in a week if the fever persisted. When it did, we went back, and they suggested it might be bacterial, prescribing antibiotics and asking us to return if the fever continued. Despite the treatment, the fever persisted, and Emmie became lethargic, prompting us to take her to the ER. She was admitted and given multiple antibiotics, but the fever remained, spiking at night. We advocated for her to be transferred to a children's hospital.
Within a day or two of the transfer, Emmie was diagnosed with SJIA and started on Anakinra. Remarkably, within hours, we saw our two-year-old return to her usual, vibrant self. We remained in the hospital for further testing to confirm the SJIA diagnosis and rule out other possibilities. After a few weeks, we finally returned home. Emmie thrived on Anakinra until she was four, but around that time, we noticed breakthrough symptoms. It was determined that the medication was no longer effective, and a new treatment plan was needed.
Since then, Emmie has been on steroids and various combinations of medications, but none have been effective enough to achieve medicated remission. She has been classified as having Refractory SJIA for many years. Currently, she is in the hospital undergoing a Bone Marrow Transplant (BMT), a procedure we hope will finally bring her into remission.
-Written by her Mother
Update: Emmie has received her new cells
Meet Emmie
Meet Madyson
Madyson was diagnosed with secondary HLH in March 2020 when she was 15 months old. She initially started showing signs around 6months old with rashes and fever. She was misdiagnosed by many doctors until she was so sick a pediatrician finally did labs and admitted her. She was in the hospital for 2 weeks before receiving the HLH diagnosis and she did 5 months of chemotherapy (etoposide) and high doses of steroids. As soon as she was done with that treatment her rashes and fever came back in September 2020.
Where we lived at the time, there was only one rheumatologist and he diagnosed her with SJIA. She was immediately put back on steroids and start Actemra infusions. She did not respond well so we switched to monthly Ilaris injections as well as still on steroids. She had a major SJIA/MAS flare June of 2021 and she was back in the hospital. At that point we knew she needed more expert care and thanks to parents in the SJIA Support Facebook group I found out about Texas Children’s Hospital in Houston,Tx. It was 3 hours away, so we made an appointment. She continued to not respond to the medications like we hoped and started developing a cough.
She was referred to Pulmonary and had a CT scan in October 2021 and it was confirmed she had lung disease. Since then she had tried every combination of medications (Ilaris, Anakinra, Ruxoilitnib, Gamifant, xeljanz, and steroids) so In 2023 we decided to have a Bone Marrow Transplant consult. We had been going back and forth to Cincinnati children’s since 2021 to have them help her local team. Everyone was on board that a bone marrow transplant would be her best option before her lungs progressed any more. Every 6 months her CT scans would show lung progression. She had her Bone Marrow Transplant at Cincinnati Children’s in April 2024 and is still having a lot of ups and downs with flares and symptoms and still remains on medication. She was on steroids for 5 years and she has finally as of recently been able to come off.
-Written by her Mother