Living with 2 rare diseases

The story of Sarah

When our son Corey was born, he was happy and healthy with no sign of any health problems. We had no idea what the future held for us. 

It wasn’t until Corey was around 9 month old that we realised he wasnt meeting his milestones and so health professionals began to get involved to try promote his development.

Unfortunately, not much progress was made and when he was one he was diagnosed with microcephaly and global development delay. We were told these were likely symptoms of an underlying genetic condition and so began the blood tests. We had a couple appointments with our geneticist who took samples from Corey, his dad and I and discussed in detail our family health history. We were told results could take a while and they would be in contact if they found anything significant. 

In December 2017 Corey starting experience myoclonic and absent seizures and was soon after diagnosed with epilepsy and starting taking medication to control his seizures. Thankfully, these are still well controlled and he only rarely experiences seizures when too hot or over stimulated. 

It wasnt until the start of last year, Jan 2019 that we got invited to see our geneticist as she had some results to give us. She explained that the HSP gene was found in Corey and I’s samples and that was likely presenting in Corey, affecting his development. I had previously discussed that my dad had started experiencing walking problems when he was 40 and had been diagnosed with cerebral palsy. His condition had significantly worsened over the years and now at 69 he is confined to a wheelchair. Our geneticist invited my dad in to get tested as his symptoms were consistent with HSP and considering the gene had been found in Corey and myself it was likely he had been misdiagnosed all these years ago. 

As well as the HSP diagnosis, we were also told of a MAP2 variant they found in Corey’s genetic sequence. She discussed with us that they have only recently discovered that this disease can affect an individuals cognitive and physical development but at this stage they are unable to tell us anything else about it. They only know of one other who has the MAP2 variant and research is still ongoing to try find answers. 

We waited a few weeks for the results of my dads blood tests but as predicted, my dad was tested positive for the HSP gene along with me and my son. Although I am not yet showing any symptoms, I understand I likely will as HSP usually takes affect in later life. 

Bearing this in mind, its also been assumed that the MAP2 has sped up the affects of HSP in my son as he has seemingly been affected from birth. Now, aged 6, he unable to walk, stand or sit unaided. He uses a wheelchair fulltime, specialist seating equipment and standing and walking aids. In addition, he is also non verbal, using makaton, body language and pecs to communicate. 

Despite his difficulties, he is a happy boy who takes it all in his stride. Everyone always comments on how happy he is and we are so proud of him.