Bohdi

Bodhi's mother Michelle:
"Bodhi had a normal birth and appeared a healthy baby, although his birth weight was lower than we had expected. As a baby, Bodhi was frequently poorly, with rashes, eczema, and bronchiolitis, and soon, he was classed as failure to thrive due to his slow growth. This was followed by multiple infections, including ear infections, diarrhoea and sickness, periannal absesses, and multiple chest infections, to name a few. Multiple infections, allergies, and failure to thrive led to him being tube fed via an ng tube at 10 months. This led to further complications as he was repeatedly sick and remained a failure to thrive despite being tube fed. We had lengthy hospital stays over the next year as doctors tried to work out causes and solutions. Bodhi had MRIs, CT scans, multiple xrays, ultra sounds,multiple blood tests, swallow studies, impedance studies, and an endoscopy. It was thought to be a gastro issue, and we were admitted to be assessed for an urgent jpeg to be fitted. During this stay, they did a sleep study, and Bodhi was diagnosed with obstructive sleep apnea. This led to an emergency tonsillectomy and removal of his adenoids. After this, Bodhi started to want food and milk orally, and slowly, things improved, and we escaped him having a peg or button inserted for feeding.
It was shortly after this that genetic testing was offered. We were keen to accept as we wanted answers. Bodhi's development was very delayed and he was displaying autistic traits and although his weight was starting to improve he continued to get multiple infections.
We knew something wasn't right and around age 2 Bodhi had a diagnosis of autism and development delay. This was followed soon after by the results of the genetics test. Bodhi had a deletion on chromosome 6q23.3-24.1 of which significance they were unsure at this time. We were referred to genetics for further testing and 'counselling'.I should note also that around this time Bodhi had tubes (grommets) fitted in his ears due to repeated ear infections and hearing issues. Speaking to the genetic counsellor, I was really hopeful for some answers but we didn't get many. It was established that his deletion was a de novo deletion and that neither myself or his dad were affected. We were told it was extremely rare and there was limited information.
We were given a leaflet from the 'Unique' charity which had the ‘Chromosome 6 Project’ project listed on the back. It was through the 'Chromosome 6 Project’ of the UMCG (University Medical Center Groningen in The Netherlands) that I have been able to find and contact others with the same deletion as Bodhi and those who had similar deletions. It also gave us hope that someone out there cared about researching these deletions and that we might find more answers. Bodhi's data was included in a research study looking at deletions on chromosome 6 affecting the q23-24 area as this remains a rare deletion area. I hope that the data will help others who go through similar and that one day we may have more answers and some more treatments for some of the conditions which affect Bodhi and others with similar deletions.
Bodhi is now 7. His physical health has improved over the years and he gets less infections now. Bodhi's development remains severely delayed and it is hard to determine how much he understands. He is severely autistic and has challenging behaviours, wanting everything to be on his agenda. Bodhi remains pre verbal and uses simple gestures like pulling me to an object to communicate a want/need. He is still in nappies. Bodhi was recently diagnosed with ADHD. He has medicine to help with this and we give him medicine to support his sleep as he frequently wakes for long periods at night. However, Bodhi is the most gorgeous, beautiful boy you could meet. He is cheeky and cute and has a magic sparkle which lights up a room. Everyone who meets him falls in love with him. Despite all the challenges he faces and we face as a family, I feel blessed to be his mum 💖"Deze tekst past u aan door erop te klikken.