Supporting Evelyn and Rare Diseases

Our daughter Evelyn was born in 2018 with a complex congenital heart defect which required two open-heart surgeries amongst a vast number of other surgeries, tests, transfusions, and treatments to help her survive. During this time, Evelyn was diagnosed with several rare conditions. The list kept growing and growing. She now has nine specialist consultants in different areas to help monitor and treat these conditions.

During this time, she had genetic testing, which in early 2020 came back that she has the WDR4 gene, which is linked to Galloway Mowat syndrome. At the time, Evelyn did not show any clinical signs of this affecting her as the research indicates, and the other health problems are in addition to this. Since then, she has been monitored for possible signs of early-onset kidney disease. Currently, there are only two children with this gene in Europe.

In December 2021, she developed glucose in her urine, which our local hospital shrugged off. Over the next few months, as parents, we expressed our concerns regarding this to anyone that would listen as we had done our research on the WDR4 gene and feared what this could indicate for Evelyn. Since then, things have worsened, meaning her kidneys are involved as we feared in December, and she has been referred to the renal team. Unfortunately, due to current NHS waiting times, she will not be seen by a nephrologist anytime soon unless she clinically deteriorates.

Her other consultants have also expressed their concerns to the renal team that she needs to be seen quicker, but things are still prolonged, and no further improvement has been made.

The more tests she has done, the worse things are getting, so we are now desperate and asking for support to help us go privately to see a nephrologist quicker and get her the treatment she needs before more damage is done and to give her the best chance.

We are also hoping to raise awareness of rare conditions and how this impacts the access to health care people experience when dealing with these conditions.

Any funds raised that don’t go towards Evelyn’s private treatment will go to Rare Disease UK and SWAN UK.

We thank you from the bottom of our hearts for everyone’s support in getting us this far and supporting us to keep fighting and staying positive x