- CASE FILE
My son has had a medical issue since he was 13, now 20 we can’t find any specialist that knows about it. He’s deteriorating fast.
ABOUT THIS CASE FILE
My now 20 year old son was diagnosed in 2013 with Idiopathic Juvenile Osteoporosis. He was referred to a wonderful Endocrinologist, he tried everything he could think of. He was also seeing a hematologist/Oncologist due to his whiny cell count and vitamin D levels were low. They worked together, the Oncologist said it sounded like leukemia, so they did a bone marrow biopsy November of 2013. It was negative for leukemia, but the Oncologist said that when he pushed the needle into the bone it felt as though he was pushing it into skin. The Oncologist stated that bone is very hard to push a needle through. My sons bone density was extremely low, Z score was -4.3. It all happened so fast and my son ended up in a wheelchair, at this point I was so scared I was going to loose my son that I told them stop trying to figure out what is wrong with him just treat him with anything you can think of. So the Oncologist handed over to the Endocrinologist and he started my son on treatments of Pamiginate. This is what menapausal women receive for Osteoporosis. Which I’m sure you know. His Endocrinologist didn’t want to interfere with his puberty, do to him just starting it. So now my son is receiving these treatments once a month for 6 months. At this point he had now been cleared by his Rheumatology, Hematology, Oncology, and Orthopedic specialists. After the last round of the treatments we saw the Endocrinologist, he dropped my son’s treatments down to once every three months, then get the details scan. Now we’re in January 2014 the Endocrinologist wanted to do another round of pramiginate for a year every 3 months due to seeing an improvement it was slight so he was hopeful more would help. my son did a follow up bone density scan, which showed that they had improved since the 2013 scan. My sons Z score was -3.1 in January of 2015. In his very last visit to the Pediatric Endocrinologist We were concerned that he wasn’t gaining weight and was still having abdominal pain, we went to ER that’s when we discovered he had kidney stones. He was hospitalized for a few days then we were sent to a Urologist/Nefrologist and found out that my son has chronic kidney disease. His bones are not absorbing the calcium so it’s backing up in his kidneys. Now in November of 2016 he had a repeat scan that I had to have the primary care doctor order due to not being able to find a ADULT Endocrinologist. That scan showed a Z score of -2.8. The primary care referred us to another Endocrinologist that apologized but she had no clue and had never heard of “ Idiopathic Juvenile Osteoporosis “. So now the primary doctor said let’s follow up in 2 years. My son was doing ok but he still has no quality of life, he reads most of the time and plays computer games. In February of this year he was complaining of pain. The primary care dr sent him to Another Rheumatologist where she was thinking that he has Marphans syndrome on top of the Osteoporosis. He had x-ray done and on his knees they found growth arrest lines within the distal metaphyses of the femoral and proximal metaphyses of both tibias and both fibulae. The radiologist suspects the following, Osteodystrophy/osteomalacia/secondary hyperparathyroidism. The primary care doctor wants to refer my son to a Endocrinologist but every one the insurance will take doesn’t know anything about his condition. This whole ordeal is very frustrating for a mother. You want to help your child and you can’t. He’s an adult now but due to his conditions he can’t work, he does have some cognitive disabilities but the disability says he isn’t disabled enough. I’m at a loss and don’t know what to do for my son. I do not care if I’m on tv. I’m doing this in hopes we can get some help. I am on state assistance he’s the oldest of my four children and my husband is our only income. I home school my younger boys due to having medical issues myself, and my daughter lives with us with her daughter and fiancé. PLEASE even if you know of someone that can help I’ll find a way to pay for it. Thank you for your time. Jennifer