Declan Heuer Anakinra Medication #geneticraredisease

Declan Tag Heuer will be 2 years old on the 16^th of July. As a family from when he was 7 months we went through many doctors and struggles of sleepless nights, time off work and many tears, finally my son was diagnosed with MuckleWells Syndrome by our referred paediatric rheumatologist Dr Gail Faller. This diagnose was made due to his genetic test results and clinical diagnose. Not only did MuckleWells Syndrome give Declan fevers, rashes on his body but also joint pain. Which at his age he could not explain if he was in pain. My husband and I felt a little at peace knowing what the problem was, but that was just the beginning for our family. Declan required a medication that is not available in South Africa, Kineret or also known as Anakinra. It must be imported through the UK.

Dr Faller wrote a motivational letter to the medical aid for assistance and completed the application form for the MCC. While we waited I did extensive research on his syndrome and the medication. From my research MWS says this: “Muckle-Wells syndrome is a disorder characterized by periodic episodes of skin rash, fever, and joint pain. Progressive hearing loss and kidney damage also occur in this disorder. People with Muckle-Wells syndrome have recurrent "flare-ups" that begin during infancy or early childhood. These episodes may appear to arise spontaneously or be triggered by cold, heat, fatigue, or other stresses. Affected individuals typically develop a non-itchy rash, mild to moderate fever, painful and swollen joints, and in some cases redness in the whites of the eyes (conjunctivitis). Hearing loss caused by progressive nerve damage (sensorineural deafness) typically becomes apparent during the teenage years. Abnormal deposits of a protein called amyloid (amyloidosis) cause progressive kidney damage in about one-third of people with Muckle-Wells syndrome; these deposits may also damage other organs. In addition, pigmented skin lesions may occur in affected individuals.”

We paid the Medical Control Council to approve the importing of the medication.While waiting for the approval of the Kineret he was put on methotrexate. This medication is used by patients with rheumatoid arthritis. Declan's rheumatologist did this because at that stage our main concern was to protect his joints. Weeks later we then received the approval from the MCC and Equity Pharmaceuticals imported the medication. At the moment Declan requires 0.10mls of Anakinra a day. We have to purchase atleast one box at a time which contains 28 syringes. One syringe lasts Declan approximately 5 days. So currently in total one box of 28 syringes lasts 140 days because the dosage is based on Declan's weight. My daily worry is that with Declan getting older, growing and picking up weight like a normal child does and he will require higher dosages of Anakinra per day. A box of 28 syringes currently costs us approximately R 16 600 (not precise costing as the price per box is based on the Euro exchange rate) The current box we need to purchase at the end of August is R16 600. Not only does he require this daily medication but Declan also requires blood tests every 3 months as the Anakinra breaks down his immune system. We are very weary of him seeing other kids or people when they are sick but we can’t keep him in a bubble. Every 6 months we will have to pay the MMC to approve the importing and every 6 months the department of health wants an update report on his condition. We are starting the report when we see his rheumatologist again in August.

If you can assist us with any donation we will appreciate it.

Regards

Kirsten Heuer