Mum of baby with rare incurable illness ‘gives up her life’ to look after himMarch 1, 2020
Jeremiah was a playful, lovable baby – but when he was just five months old, mum Aneesa realised something was quite seriously wrong.
Jeremiah started to become floppy and weak, he was unable to lift his head, lie on his tummy to play, or hold his arms and legs like he used to.
‘He would sleep all the time and simply had no energy – not even to play peek-a-boo, which is his favourite thing to do,’ Aneesa said.
After many weeks of being dismissed by doctors, Aneese persevered because she just knew that something was wrong with Jeremiah. She spent all her time with him and noticed the subtle changes in his behaviour that doctors didn’t see.
After finally seeing a skilled therapist, Aneesa was advised to get emergency referrals to a neurologist and a geneticist, but with the waiting times being so long, she turned to Greenwood Genetics and was seen the next day via a video consultation with a doctor.
‘She did a thorough exam of his body, they collected paternal and maternal data and ordered blood samples,’ explains Aneesa. ‘They also tried to assist us with the other referrals to see a neurologist and of course I switched paediatricians. In our case, the swift response of Greenwood’s team saved my baby’s life.’
Katie Clarkson, MD and GGC clinical geneticist, considered several tests, but with a long list of possible diagnoses, she suggested whole-exome sequencing, a diagnostic test looking for mutations in the coding regions of all 20,000 genes.
Because of Jeremiah’s rapid regression, the test that typically takes 10 weeks for a result was fast-tracked by GGC’s Diagnostic Laboratory, and an answer came in fewer than three weeks. The doctors identified two changes in the TK2 gene.
This gene is known to cause mitochondrial DNA depletion syndrome, type 2 also called TK2 deficiency.
TK2 deficiency is an incurable disease that progresses quickly, causing muscle weakness, problems with chewing, swallowing, and breathing, loss of motor skills, and slowed mental development.
Aneesa was devastated to receive such a complex and life-altering diagnosis for her son.
‘I wanted an answer similar to the one the doctor prescribes for the cold – take this pill, get some rest – or maybe just a physical therapy routine,’ she says. ‘Instead, I was told that there is no treatment, no cure and that your son has a rare progressive disorder.
‘It was overwhelming, but due to the time-sensitivity, I was grateful that we had an answer to what dreaded monster we were truly facing. I typed the name of it into Google and cried for days.’
Jeremiah’s illness has affected his mobility, his nutrition and his other bodily functions. He is connected to oxygen at night to make sure he is breathing, and Aneesa has to keep a suction machine close by in case he produces too much saliva.
He has been rushed to hospital for pain and new symptoms many times since his diagnosis, and sadly, the early the onset of the disease, the more severe it is likely to be, But Aneesa is just happy to have some answers.
‘I am thankful that Jeremiah’s diagnosis was early so that he does not miss running around or doing other activities,’ she explains. ‘To him, it’s just a lot of work to get to certain milestones regarding growth and development.
‘Children are resilient so the impact is cushioned as they adapt easier than we do.’
Aneesa’s family life has changed drastically to cater to Jeremiah’s needs, but Aneesa remains hopeful about their future.
‘We stay indoors most of the time to avoid germs as Jeremiah’s immune system is not the strongest,’ says Aneesa. ‘I no longer work, and I can’t attend late-night football or basketball games with my other boys.
‘They only visit on weekends and now live with their dad. I’m positive they would love to see their brother run and play with them, and we hold on to hope that one day he will.’
Aneesa says that social media and online support groups have been a lifeline. As has identifying the correct treatments and seeing little improvements in Jeremiah’s condition – he can now move his arms and legs again, he has less reflux and less need for oxygen.
‘The medication has seemed to slow the monster of the disease down,’ says Aneesa.
She says that ‘coping’ varies depending on different definitions and circumstances, but she believes she is coping.
‘Coping, to me, is making sure he gets all of his physical, occupation and speech therapy as well as keeping up with his medical specialists on rotations,’ she says.
‘Jeremiah sees his pediatrician, an early interventionist, his therapists, a cardiologist, a pulmonologist, a gastroenterologist, a pediatric surgeon, an orthopedic team, neurologists and of course his research team.
‘His resilience gives me the strength to “cope” for him and with him.
‘I’ve given up my life so that I can provide the best care but also become an advocate for him and the disease. I post daily on his Facebook page – Jeremiah Gracen TK2D Warrior, giving a very personal look into our new life in the hope to inspire others.’
Jeremiah’s medical diagnosis is a result of a collaboration between Emedgene and Greenwood’s Genetic Center, the facility where Jeremiah’s life-saving diagnosis was given, and where Emedgene’s AI powered solution is integrated.
On average, a patient will see eight doctors before getting the correct diagnosis of TK2d. And time is of the essence. Jeremiah’s disease is highly aggressive and is still regularly misdiagnosed, or even undiagnosed, for long periods of time. Experts say using AI is the key to ensuring timely diagnosis for the children who desperately need it.
‘I truly believe that diseases are only rare because many people are living either undiagnosed or misdiagnosed,’ says Aneesa.
‘To get a diagnosis of a rare disease is tough, to say the least, but being able to connect with others sharing similar situations helps tremendously.
‘Rare diseases give way to new advancements in technology, research and medicine. Rare diseases fuel parents with a sense of supernatural hope where we become medical experts learning about our tiny superheroes.
‘Rare diseases give room for God to perform miracles, so for us we simply hold on to hope and a firm belief that God makes no mistakes, and regardless of how cliché that can sound it helps us to cope.
‘Just because an illness is rare doesn’t mean that we will ever give up on it.’