BiographyAfter going through IVF and being able to only collect one egg, our miracle baby boy - Henryk was born on Christmas Day.
During the pregnancy, while having extra scans, it was identified that Henryk will probably have only one kidney (which was confirmed after Henryk was born).
From birth we noticed that Henryk was not focusing and not looking into our faces. Also, we noted that he was very sensitive to sunlight, when outside during walks. At his 2 months GP check, we verbalised our concerns. However Henryk passed the torch test, so the GP said let's observe.
When Henryk was 4 months, again we contacted our GP. Than we were referred to ophthalmology and to Great Ormond Street, when a diagnosis of ocular albinism with nystagmus was made. However, after seeing our paediatric nephrologist, we were also referred to the genetic team, due to Henryk having a few more issues by that time, including an undescended testicle (Henryk had surgery at 1 year old to move the testicle down) and a heart murmur.
After the genetic tests were done, it was confirmed that Henryk has a very specific gene mutation, which can cause all those problems. There is no name to his mutation, it is very specific to Henryk (I also had a blood test done and it turned out that I am a carrier of this specific gene mutation). Knowing that, we also have to make sure that Henryk will be having regular endocrine tests, since that genetic mutation can be responsible for issues on reaching puberty.
The first year of his life was very difficult and traumatic for our whole family, since we did not know what the future will bring and how those genetic mutations would affect him. So I can say, processing the diagnosis was really tough.
Henryk was also under the child development team, because at first nobody knew, if, apart from the physical problems, he will also have intellectual difficulties.
Mobility was also challenging for Henryk. He only started to walk at the age of 2. However, now he is 4 and is really doing well!
He is a pre-schooler now, able to socialise and run. He is discharged from the child development team, he is reaching all age related milestones.
He wears glasses for his astigmatism. He is definitely having issues with his balance and distance vision, but he is unstoppable.
We can definitely say, that although we know Henryk will always have limitations, his personality, persistence and being so fearless, will help him to reach his full potential. Especially, with the right support.
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