BJ and Pepper Josey - the forgotten casualties
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About Us: We are the Josey Family from Burnie, Tasmania. Our youngest 2 children, BJ and Pepper, were diagnosed with Autism a few years ago, they also have a few other disabilities that fall under the ASD banner: Intellectual Disability, Global Developmental Delay, Sensory Processing Disorder, Anxiety etc.
Past: BJ had always complained about sore legs while he was young, every time we spoke to our Doctor or Pediatrician about this, they kept telling us it was growing pains and to just disregard it.
Recently: 2 years ago, our son BJ, knocked his ankle. Due to his Autism, it took him all day to tell us that his ankle hurt and that he could not walk on it. I took him to the local emergency room, where we had to wait for about 4 hours before they could have a look. He was sent for xrays and it was discovered that he had a fractured ankle and a weird growth. They put him in a half cast and organised for us to see the Orthopedic Specialist later that week. BJ and I went to the appointment and were informed that he had an Osteochondroma on his ankle and that it was fracturing his bone and the half cast will not help and they removed it. We were told that there were no specialists at all in our state who could treat BJ.
Our youngest, Pepper, had also complained of 'cold' elbows, knees and ankles. This would cause her so much pain, and she would be in tears and wanting us to make it stop. Pain killers can only do so much. Due to her complaints, after BJ's diagnosis of Osteochondroma, our Pediatrician recommended that Pepper get xrays done also, from that, she was diagnosed with Multiple Hereditary Osteochondroma. Her arms, legs and torso are littered with multiple bone growths which impact on her nerves and blood vessels.
Current: We were referred to see a specialist in Melbourne. Both my husband and myself flew to Melbourne with BJ and Pepper, that was a scary experience and disrupting to fellow passengers as Pepper's Austism really came to the party. She is extremely shy and has such huge anxiety. The specialist at the hospital did not seem to understand Autism and hurried our appointment to get us out without fully explaining to us what Osteochondromas meant to our children. We were told to wait and see what develops and to bring the children back if anything happens.
This was almost 2 years ago. Since we have spoken to our Pediatrician about getting the children follow up treatment, referrals have been sent, but we have not heard anything back. BJ can barely walk for any length of time now, he is in constant pain with new pain in his knees, hands and wrist. He has grown so tall in the last 2 years and his leg is shorter than the other, he has to walk on his toes so as not to put pressure on his ankle, he cannot go outside and play like most 13yo boys, because there is the chance that he can make the fracture become an actual break.
We have spoken to our Politicians etc in regards to getting specialists in our state to help our children. Also about getting better diagnostic equipment to help determine how severe and number of their growths they actually have. We were told that we just have to wait and continue with the specialist in Melbourne.
MHE - What is it: MHE stands for Multiple Hereditary Exostoses: a rare, incurable, debilitating childhood bone disorder often characterized by bone deformities, limb length discrepancies, mobility issues as well as physical and emotional pain. World Health Organization (WHO) refers to it as Multiple Osteochondromas (MO) thus removing the stigmatic hereditary aspect of the disorder. Some people inherit this bone disorder while others simply get it through some sort of genetic mutation.
There are numerous cartilage capped bony tumors that develop next to the growth plates of most long bones. These bony tumors are called 'exostoses' or 'osteochondromas.' These bony tumors may also arise from flat bones such as scapula, ribs and pelvis. These bony tumors keep coming as the child grows. Not only that, but they also keep growing, thus stealing from children's longitudinal bone growth - they have a mind of their own, thinking they are growth plates themselves.
MHE children suffer from progressive skeletal deformities such as limb length inequalities, bowing of limbs and angular deformities of the joints. There is pain from soft tissue trauma: bursa formation, ligament tears, nerve or vascular deviation, impingement, entrapment or injury.
MHE is a 1:50 000 disease (and we have 2 in our family)
There is an increased chance of malignancy.
Today: Since their diagnosis, I have been learning more about MHE and about treatments offered in Australia. I have been in contact with other Families that also have this disorder to learn what treatments have been offered for their family members.
We have learned that there are specialists on the mainland, in NSW and Qld, who are fantastic with this disorder.
We have started this gofundme page to assist our family with associated costs of moving interstate and out of pocket medical expenses to be closer to these Specialists and receive the treatment that BJ and Pepper so desperately deserve.
My husband and I both had to give up our jobs and business to become full time carers for both BJ and Pepper due to their other disabilities. We home school them both as they just cannot participate fully in mainstream education due to these disabilities. We just feel that our children need a break. It kills us inside to see them in so much pain, they have their good days and their bad, they take it all in their stride, when anxiety lets them. We just want them to have the best help available, so that they can lead normal childhoods and lives just like everyone else.
Please, do not let BJ and Pepper be the forgotten casualties of an uncaring health system.
Thankyou
Kym
Past: BJ had always complained about sore legs while he was young, every time we spoke to our Doctor or Pediatrician about this, they kept telling us it was growing pains and to just disregard it.
Recently: 2 years ago, our son BJ, knocked his ankle. Due to his Autism, it took him all day to tell us that his ankle hurt and that he could not walk on it. I took him to the local emergency room, where we had to wait for about 4 hours before they could have a look. He was sent for xrays and it was discovered that he had a fractured ankle and a weird growth. They put him in a half cast and organised for us to see the Orthopedic Specialist later that week. BJ and I went to the appointment and were informed that he had an Osteochondroma on his ankle and that it was fracturing his bone and the half cast will not help and they removed it. We were told that there were no specialists at all in our state who could treat BJ.
Our youngest, Pepper, had also complained of 'cold' elbows, knees and ankles. This would cause her so much pain, and she would be in tears and wanting us to make it stop. Pain killers can only do so much. Due to her complaints, after BJ's diagnosis of Osteochondroma, our Pediatrician recommended that Pepper get xrays done also, from that, she was diagnosed with Multiple Hereditary Osteochondroma. Her arms, legs and torso are littered with multiple bone growths which impact on her nerves and blood vessels.
Current: We were referred to see a specialist in Melbourne. Both my husband and myself flew to Melbourne with BJ and Pepper, that was a scary experience and disrupting to fellow passengers as Pepper's Austism really came to the party. She is extremely shy and has such huge anxiety. The specialist at the hospital did not seem to understand Autism and hurried our appointment to get us out without fully explaining to us what Osteochondromas meant to our children. We were told to wait and see what develops and to bring the children back if anything happens.
This was almost 2 years ago. Since we have spoken to our Pediatrician about getting the children follow up treatment, referrals have been sent, but we have not heard anything back. BJ can barely walk for any length of time now, he is in constant pain with new pain in his knees, hands and wrist. He has grown so tall in the last 2 years and his leg is shorter than the other, he has to walk on his toes so as not to put pressure on his ankle, he cannot go outside and play like most 13yo boys, because there is the chance that he can make the fracture become an actual break.
We have spoken to our Politicians etc in regards to getting specialists in our state to help our children. Also about getting better diagnostic equipment to help determine how severe and number of their growths they actually have. We were told that we just have to wait and continue with the specialist in Melbourne.
MHE - What is it: MHE stands for Multiple Hereditary Exostoses: a rare, incurable, debilitating childhood bone disorder often characterized by bone deformities, limb length discrepancies, mobility issues as well as physical and emotional pain. World Health Organization (WHO) refers to it as Multiple Osteochondromas (MO) thus removing the stigmatic hereditary aspect of the disorder. Some people inherit this bone disorder while others simply get it through some sort of genetic mutation.
There are numerous cartilage capped bony tumors that develop next to the growth plates of most long bones. These bony tumors are called 'exostoses' or 'osteochondromas.' These bony tumors may also arise from flat bones such as scapula, ribs and pelvis. These bony tumors keep coming as the child grows. Not only that, but they also keep growing, thus stealing from children's longitudinal bone growth - they have a mind of their own, thinking they are growth plates themselves.
MHE children suffer from progressive skeletal deformities such as limb length inequalities, bowing of limbs and angular deformities of the joints. There is pain from soft tissue trauma: bursa formation, ligament tears, nerve or vascular deviation, impingement, entrapment or injury.
MHE is a 1:50 000 disease (and we have 2 in our family)
There is an increased chance of malignancy.
Today: Since their diagnosis, I have been learning more about MHE and about treatments offered in Australia. I have been in contact with other Families that also have this disorder to learn what treatments have been offered for their family members.
We have learned that there are specialists on the mainland, in NSW and Qld, who are fantastic with this disorder.
We have started this gofundme page to assist our family with associated costs of moving interstate and out of pocket medical expenses to be closer to these Specialists and receive the treatment that BJ and Pepper so desperately deserve.
My husband and I both had to give up our jobs and business to become full time carers for both BJ and Pepper due to their other disabilities. We home school them both as they just cannot participate fully in mainstream education due to these disabilities. We just feel that our children need a break. It kills us inside to see them in so much pain, they have their good days and their bad, they take it all in their stride, when anxiety lets them. We just want them to have the best help available, so that they can lead normal childhoods and lives just like everyone else.
Please, do not let BJ and Pepper be the forgotten casualties of an uncaring health system.
Thankyou
Kym
Organizer
Kym Goldby
Organizer
Wivenhoe TAS
