Bodhi’s Story
Alysha Martin lives on the beautiful Gold Coast with her fiancé Trent and darling 15 month old son Bodhi who has a life limiting condition. She shares Bodhi’s story and the journey they have been getting a diagnosis and learning to live with new expectations for Bodhi’s life.
Bodhi was born on the 24th of Jan 2020. My pregnancy was uneventful, every scan and test went well and I was considered low risk.
At 39 weeks and 5 days I had an appointment at the hospital as I had reduced foetal movements, this was the second time I had noticed it so the doctors suggested I be induced. The process started at 4pm that afternoon, at 12pm the next day my waters were broken and Bodhi arrived at 7.31pm that night. All initial tests were good and he was a healthy 6.9 pounds.
The next day he failed his healthy hearing test during his newborn screening tests. The hospital told us this can happen as sometimes the ears are blocked after coming through the birth canal and a midwife would test him again in a couple of days. He failed 2 more screenings after that so we were referred to the audiologist at the hospital. It was there he was diagnosed with mild hearing loss in both ears and we were told he would need hearing aids for both ears.
Following his hearing loss diagnosis Bodhi was referred to the Queensland children’s hospital in Brisbane for tests to determine if there was any underlying conditions causing his hearing loss. Due to COVID restrictions this appointment was via video chat.
The doctor assumed his loss was non syndromic, but Bodhi’s heel prick test was tested for CMV antibodies as I had a cold during pregnancy and a blood test for a genetic micro array. Both test came back normal. At his 6 months check up our GP noted Bodhi was still very floppy, did not have 100% head control and he had an unusual tongue thrust. She referred us to the hospital to meet with a paediatrician and advised us to seek help from a paediatric physio.
The paediatrician diagnosed Bodhi with low muscle tone, global developmental delay and was concerned why he didn’t have full head control. He was sent to have numerous blood tests. All his test came back normal except he had high liver levels - the doctor wasn’t sure at this stage whether this was related to anything specific. Bodhi started doing weekly physio to help with his gross motor delays. We later engaged the help of an OT and speech pathologist.
We decided to share more on Bodhi’s condition with our friends and as soon as we did we felt enormous amount of love and support.
Letting friends know what was happening
We battled alone these first few months, unsure of what to share with our friends as Bodhi’s condition was so uncertain (there had been mentions of him having cerebral palsy) but at 9 months we rushed Bodhi to emergency after he was gasping for air.
We were admitted for 3 days and Bodhi was sent for more tests. It was after this time we decided to share more on Bodhi’s condition with our friends and as soon as we did we felt enormous amount of love and support.
Getting a diagnosis
During this stay Bodhi had a chest X-ray, ECG, his oxygen levels were monitored and more blood test were ordered. These results showed his liver levels were still high. The paediatrician then referred him to the metabolic team at the Brisbane Royal children’s hospital.
During our first appointment there they told us they believed he had a rare genetic mitochondrial condition and sent him to have a full genome sequence blood test. The results would take 2 - 3 months. During the wait Bodhi had an spinal lumbar puncture and an MRI on his brain that showed his hypothalamus was smaller than a typical baby his age. This doesn’t indicate anything specific but the doctors advised us that genetic disorders can have unusual effects on the brain.
On the 21st of January - 3 days before his first birthday, we got his results. He was diagnosed with a genetic mutation in gene BCS1L, his condition is classified as Mitochondrial Complex III related disorders.
“Mito is a debilitating genetic disorder that deprives the body’s cells of energy, causing multiple organ dysfunction or failure, and potentially death. Up to 30 children born in Australia each week are at risk of developing a mild to moderately disabling form of mito, while at least one Australian child born each week will develop a severe or life-threatening form”.
Bodhi’s condition is an autosomal recessive condition - this means Trent and I are carriers of the same faulty gene and Bodhi received a copy of the faulty gene from both of us. We have a 1 in 4 (or 25%) chance of passing it on to a child.
We made the decision to take some time out, travel and make memories with Bodhi.
Making every moment matter
Even though our world felt like it had stopped we knew we needed to celebrate his birthday. We had a very small celebration with our family and friends. During those first few days, we made the decision to take some time out, travel and make memories with Bodhi. So we packed the car up and have been travelling around QLD making beautiful memories with him since mid Feb.
Bodhi is 1 of 4 known cases in Australia so there is not a lot of information available about his condition. He has no clear prognosis but the doctors suspect he won’t survive past early childhood.
He suffers from global developmental delay, hearing loss, low muscle tone and eating difficulties. He can’t walk, crawl or sit. Because of his low tone and delays, he can’t do anything himself. He still requires us to feed him, give him bottles and help him play.
Despite all of his challenges Bodhi is the happiest little boy. He lights up whenever he is around people and spends most of the day laughing and smiling.