Infections
Isabelle, 8 years old, 3 years old at time of Best Practice: “She got a virus just about twice per month, and allergies were causing major obstructive sleep apnea. She didn’t react well at all to antibiotics and continuously got ear infections. Ear tubes worked for a short time, until they fell out. We used a nasal rinse with distilled water, baking soda, sea salt and Xylitol nightly. At first we used a squeeze bottle, but we have since purchased a nasal irrigation machine.” – Julie
Lorelei, 20 years old, 11 years old at time of Best Practice: “When Lorelei gets sick it is always harder on her than other kids her age. She has been in ICU for breathing issues [Respiratory illnesses] due to a simple cold. Lorelei’s pulmonogist prescribed her a Smart Vest. She uses her Smart Vest at least once a day. It helps moves mucus around and up to hopefully she can clear them from her lungs. Lorelei has not been in the hospital since 2011. I am so grateful for this machine.” – Erica
Neurological
Isabelle, 8 years old, 3 years old at time of Best Practice: “Seizures that were not controlled by drugs or diet. Charlotte’s Web hemp oil given twice daily at the optimum side for her weight.” – Julie
Behaviour
Stephanie, 4 years old, 2-4 years old at time of Best Practice: “Can have major melt downs where she bites and screams and bangs head when sick, stressed or made to do something she doesn’t want to do i.e. Getting up in the morning, taking bath, etc. We minimize the meltdowns in the morning by spending time rocking with her first thing after getting dressed. She still gets upset and tries to throw up during dressing but by rocking afterwards to allows her to calm and have better morning. We have yet to figure out bathtime but we work as fast as we can to get it finished and spend time rocking. When we see signs she is stressed we have found out she prefers to be alone in her room with lights off for a short period of time. She lets us know when she’s ready by smiling when we come in. If not ready she will fuss at us till we leave room.” – Kathy
Vision
Florian, 2 years and 7 months old, 2 years old at time of Best Practice: “Florian was diagnosed as severely visually impaired when he was only a few months old. He was very short sighted (-16) in both eyes but also had pale thin retinas. He would not give eye contact and had a glassy expression. We tried glasses but because his prescription was so strong he would have to look directly through the middle of each lens to get any benefit. Unfortunately he often looked sideways and we also found that because his ears were set low that the glasses would tilt downwards and squash against his eyes. Cortical visual impairment was discussed amongst the group and although Florian did not have an official diagnosis he seemed to display some of the characteristics. We first switched from glasses to contact lenses. I wore contact lenses myself so I wasn’t too put off by trying them with Florian. At first we had to go to clinic once a month to have them changed but soon I learned how to do it at home. Eventually they would like us to take his lenses out nightly to clean them before replacing them the next day but we’re not there yet – more like fortnightly but I’m hoping we can get to weekly soon. We also looked into cvi more and started showing him shiny objects or lights against a very simple background. I also realised that I needed to show him objects for much longer than i had before to make sure that he had enough time to see it and process it. I also made sure I kept objects still instead of waving them about.” – Alice
Research
Xan, 5 years old, 11 months old at time of Best Practice: “I think it’s important to find the balance between yourself and your intuitive knowing and the amount of advice you receive from outside help such as doctors, physio etc. You know your child best and as much as the help is appreciated know you can say no to things that may not sit right for whatever situation it maybe. Independent research not just what your told sometimes can help you shed light on something. Listening to your gut instinct on a decision perhaps.” – Danielle
* Although children who are diagnosed Bohring-Opitz Syndrome (BOS) have a lot in common, each child is different and unique and the variation in level of illness from one child to the next can be great. Please keep in mind that Bohring-Opitz Syndrome is very rare and there is still little known about the clinical management of children with Bohring-Opitz Syndrome. These Best Practice results, experienced by parents, caregivers and doctors worked for this specific child. Therefore we think it is important to present, to discus and to consider these findings. However, we hope that more BOS children can benefit from these experiences. It is important to realize that given the complexity of the illness of each child a Best Practice of one patient may not help another BOS patient. Each child should have an individual care plan, which is designed to meet the unique needs of the patient. The plan should be routinely followed, monitored, and adjusted as needed.
The material and content on “Bohring-Opitz Syndrome – A worldwide exchange of information and awareness” is for information only and not intended to be a substitute for professional medical advice, diagnosis or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition.
Bohring-Opitz Syndrome 