Leon was born in 2014 without any noticeable problems regarding his health. The first 1,5 years were as one would wish - a happy baby who loved to be sung to sleep.
In order to be on the safe side - with the medical condition of his brother in mind - we arranged for a BERA test (brainstem evoked response audiometry) at the age of 4 as it is known to be a very reliable method and can be done without needing patients active coordination - at that time no deviations had been detected.
As a toddler he loved dancing to music, singing children's songs and we enjoyed having little chats together.
Emerging changes were subtle in the beginning, he gradually abated talking and it was as if he would lose many of the skills and faculties he had already developed and adapted. We were quite worried and got in contact with the physicians we already knew from Philips treatment. We were taken seriously and they arranged for an examination shortly thereafter - the plan was to insert a tympanic tube and make another BERA test.
While Leons undergoing surgery a doctor came by and told us that the results of the test were abnormal and that she was not sure whether the device was working properly. We informed her about Philip and his diagnosis. From this moment on we thought that Leon was also suffering from auditory neuropathy. As this is a neural disease of the auditory system, the internal ear is unimpaired, so the otoacoustic emissions are not affected. This was in January 2017.
In April 2017 Leon received the first CI and he profited from it to such an extend that in October 2017, the implantation on the other side was effected. But the first implant was on the rocks as an MRI showed an inflammatory tissue reaction. Fortunately it did not turn out to be an inflammatory mastoiditis and the tissue could be removed.
Leons behavior became more and more difficult and he was suffering from perception disorders. But we assumed that he only needed more time to come to terms with all the problems and to catch up with the other children, so we placed him in a kindergarden specialized in hearing-impaired children with a good reputation.
My older daughter asked me to make a genetic test. She wanted to have a baby and to ensure that there is no genetic predisposition. In the past Philips testing did not show any results, but we went for a new testing of Leons blood in the Division of Pediatric Genetics. The first examination did not produce results but the doctors told us that there were improved methods for detection of aberrances (panel tests) at their disposal. We gave our permission to proceed and a few months later they received results which had to be verified with blood sample testing of me, my daughter and my older son.
At that time we got the confirmation that, sadly, both of my sons suffer from the Mohr-Tranebjaerg Syndrome.
As of today (Sep 2019) Leon is still suffering from ENT infections but much less pronounced than his brother. He struggles with impulse control, suffers from attention deficit disorder and is displaying behavioral problems but his speech comprehension is - due to the CIs - really good as well as his language faculty.
The best thing we can do at the moment is to live in the here an now, enjoying life to the fullest. We hope that the MTS (TIMM8A-Gen:tranclocase of inner mitochondrial membrane 8A) will have a mild course and both of the boys will benefit from a dolphin-assisted therapy in 2020.