- CASE FILE
My son is 14 and at 8 he was diagnosed with his 1st autoimmune disease called Uveitis, and now has more. All 3 kids have immune deficienci.
ABOUT THIS CASE FILE
As a toddler my son had many allergic reactions to various things. The first time he received IV Steroids he was 18 months old. He developed hives from head to toe while swimming in a pool. If stung by an insect he would have large local reactions and develop cellulitis. At the age of six he was diagnosed with developmental coordination disorder. He has severe fine motor deficits and still cannot tie his shoes. At the age of 8 he was diagnosed with an autoimmune disease called Uveitis, or Pars Planitis. His optic nerves were also swollen. He underwent many tests and it was found to be idiopathic. He was treated with steroids, Humira, and Methotrexate, and still the disease persisted. If taken off the steroids, he would experience hives. He then began passing kidney stones once a year, and was diagnosed with Vitamin D Deficiency, Hypoparathyroidism, and Osteopenia. At age 11 his knees began to swell and he developed a contracture. He was diagnosed with Juvenile Idiopathic Arthritis. The arthritis was soon discovered in multiple joints. Treatments with Orencia were started but did not work. He was then switched to a medication called Actemra. It worked for a little while but had to continue IV and oral steroids to help control the disease. He began having rashes, his face always appeared flushed and I was told it looked like a lupus patient by a doctor. He has never tested positive for any autoantibody. The only abnormalities in his bloodwork have been low immunoglobulins, low vitamin D, high converted vitamin D, low parathyroid hormone, low class switched B cells and,sometimes slightly elevated CRP. Every imaging scan of the brain has been normal including MRA’s and MRI’s. Genetic testing for Blau Syndrome, familial Mediterranean fever, and NOMID were negative. In 2017 He was diagnosed with Retinal Vasculitis. After finding the vasculitis, he had a vitreous biopsy preformed which showed his inflammation is “granulomatous”. After, ophthalmologist we’re convinced that he has Sarcoidosis and he was given the diagnosis by his rheumatologist. He had a retinal detachment, and surgery for glaucoma which is caused by the steroids. He was then started on a medication called Remicade. A few months later, it was found that my oldest child had a form of immune deficiency. His older brother suffered from chronic diarrhea and extreme weight loss in a short about of time. When testing for celiac disease revealed low Iga I asked for a referral to an immunologist. Testing revealed his brother had allergies to almost everything he was tested for and hypogammaglobulemia. I had all three children referred to the immunologist and tested. My son with the autoimmune issues and my daughter who is 10 were both diagnosed with Common Variable Immune Deficiency and started on IVIG, immunoglobulin replacement therapy. He is now in medicated remission on IVIG and Remicade. He hasn’t had an arthritis or Uveitis flare in six months, but at his last ophthalmology visit his right optic disc was found to be swollen, so we are back to waiting for a Neuro-ophthalmology appointment to see if we can find out why. The diagnosis of Sarcoidosis fits in a lot of ways, but he doesn’t have a typical presentation, especially being that he’s is a Caucasian child, his ACE has never been elevated, and it has never been biopsy proven. We know JIA doesn’t fit as the cause as his Uveitis progressed to Panuveitis, meaning all areas of the eye had inflammation, JIA associated Uveitis typically affects the anterior, or front of the eye and the inflammation isn’t granulomatous. Since he’s in medicated remission on IVIG and Remicade, I’d say we’re on the right track, but there is still so much that doesn’t make sense. This disease has stolen his childhood. Multiple doctor visits, 6 surgeries, losing most of his near vision, the weight gain (which he has now lost) and emotional issues from five years on high doses of steroids...it’s been a roller coaster. It’s been a nightmare having to do so much research to try to get answers and the right mediations to make sure he doesn’t go blind. I even had to homeschool him for three years due to this disease and he’s just now back in public school. Uveitis is one of the leading causes of preventable blindness in children, and I’d like to bring some awareness to it, see if there is anyone out there who has experienced a similar path, and see if the crowd believes Sarcoidosis is the correct diagnosis for my son. Both boys were diagnosed with hyper-mobility Syndrome in the past. The only genetic studies performed are the ones I mentioned. I feel that all three kids need genetic testing to figure this out and we’ve never been referred for it. It just doesn’t make sense to me that it could be Sarcoidosis when all three kids seem to have immune abnormalities, and if something genetic connected to the immune deficiency is causing it, we need to know for the sake of my other two kiddos as well.