BROOKS, 4 (Anchorage, AK) | Rare Diseases: NOMID/CINCA
written by his mother, Holly
photographed by Laura Stennett Photography
Today, when you meet Brooks, he is normally a happy, curious, funny, energized little human. But it hasn't always been this way. For the past 4 and a half years, we have been in and out of many doctors’ offices trying to figure out what was preventing Brooks from developing.
It started at birth. Brooks was born a seemingly healthy boy; joining his two older sisters. I noticed immediately that something was very different, and there was something in me that told me to keep a close watch on him. As time went on during his first year, with the tremendous support of his pediatrician, we started down the path of evaluating his symptoms and trying to determine possible causes for what we were seeing - transient hemipeligia, significant swelling in limbs that would come and go, urticarial rashes followed by swelling so significant it left bruises, delayed motor skills, allergies and intolerances to many foods, inability to sleep, and the most haunting to me was that look of pain in his eyes.
With the help of many local and Seattle-based providers, we worked over the years to diagnose and identify a treatment course to get Brooks back on track with his peers. We had a number of frustrating dead ends, and after what seemed like endless testing and a lot of opinions at age 2, no one really knew what was going on and we were left with knowing something was very wrong, but no name or treatment path.
A big milestone was reached just after Brooks' first birthday. At 53 weeks old, he intentionally clapped his hands together for the first time (coordinated bi-lateral movement!). Even with significant therapy, he did not crawl or walk unassisted until 17 months (therapy was weekly from 4 months old, regression of skills documented).
Brooks did not sleep more than 2 hours in a row until he was 56 weeks old when he slept for four hours. We thought he could not sleep due to pain - stomach or body (legs?), but had no real way to determine what caused the pain, or how much pain was he in. Brooks also has some vision challenges and has worn glasses since August 2014. The glasses have greatly helped Brooks' development in his ability to move through space. He continues to wear glasses today, and has undergone a number of focused testing to determine just how much, if anything he can see out of his left eye. It is clear his vision is significantly impaired in his left eye due to inflammation damage.
We met a doctor who had recently read a research paper on NOMID - Neonatal onset multi system inflammatory disease - also known as CINCA (chronic infantile neurological cutaneous and articulate syndrome). Brooks was nearly 3 years old when we learned of this very rare disease. We followed down the path for a possible NOMID/CINCA diagnosis with more blood samples during a flare up, x-rays of his knees, and a skin biopsy of the urticaria. With the results of these, and in consultation and a review of his neurological history with National Institute of Health a clinical diagnosis of NOMID was given, and we began treatment with Anakinra.
Within 3 days of starting treatment, Brooks was a completely different child – he began playing for more than an hour at a time – where before he could handle only 10 – 20 minutes of activity before needing to rest. He could walk almost double the distance, although it was tough because he lacked the core strength, form and practice, but he seemed to want to move more. He had more energy, and he was able to be more organized in his motor movements. It was apparent to everyone around him – his parents, caregivers, and doctors who knew him well. It was amazing progress, and we have continued to see the same progress since then.
I am grateful for the NOMID Alliance (http://www.autoinflammatory.org/) and for the research done by their organization in coordination with NIH. Without the past research and publishing of papers on NOMID, we may not have had a diagnosis and begun treatment, and Brooks might still be in a place of significant delays and inability to move freely.
Brooks got fitted for and received ankle foot orthotics (AFO's) around age 3 and a half, and until then we had NEVER seen him run. 20 minutes after putting them on, he was so fast he slipped right by me and out the door of the office! We call the AFO’s his ‘fast shoes’ and I will never forget the look on his face of pure joy and freedom.
We are so thankful for the research and treatment that others pioneered before us, and even though Brooks is doing well today we worry it won't always be this way. As he continues to grow he will need different treatments as the disease progresses, and while the medicine works now, it might not always work. That is why research is so important to us - there is much to be learned about rare diseases like what Brooks has - and we hope there is continued focus on his disease and others like him in the research community.
