A Chance for Sarah

This is our daughter, Sarah. Sarah is a bright, loving and bubbly six-year-old little girl who needs your help.

We are needing to raise £20,000 in a short space of time so Sarah can play safely in the garden without being exposed to the sunlight. In order to do this, we have to build a structure on the back of our house which will provide this protection. There must also be adaptations in our home to cater for Sarah’s visual impairment. This entails adding extra lighting and making the house brighter.

We also wish to treat Sarah with a trip to Disneyland Paris whilst she still has her sight as her future vision is uncertain.

Earlier this year, after two years of continuous assessments; scans, MRIs, x-rays and seeing different doctors as well as consultants. She was initially diagnosed with Uveitis. Despite them being along the right lines, after seeing doctors at Great Ormond Street Hospital for sick children she was eventually diagnosed with a rare genetic cancerous disease called Wagner Syndrome. Being made aware of this and given little to no information about this condition, we were left to deal with the aftermath.

As a family, this is a route that is not unfamiliar to us. Yet again, we are headed into the unknown with no support and coping structure due to a complete lack of knowledge of this condition as a consequence of the lack of research. What we were able to gather is the fact that this condition is caused by mutations in the VCAN gene which can affect different parts of the body. In Sarah’s case, it has attacked her eyes which has subsequently caused her loss of vision by retinal detachment in her left eye as well as a build-up of gel and inflammation in her right eye. If left untreated, the same retinal detachment can occur. Sarah is due an operation in May to attempt to reattach the retina and clear the gel in the right eye but, the hospital has made it clear that damage has already been done.

As parents to an amazing little girl, it has deeply saddened us to see what Sarah is having to endure as we have already lost a child to another rare genetic disease. Our son, Joseph was born with Canavan Disease and was diagnosed at seventeen months old. When we were told by the junior doctor, they gave us a sheet of paper with information on which they had downloaded from the internet, told us to read it and take our baby home to care for him. You can only imagine the torment that thus news put us through. After reading the small leaflet given to us and being told he could live for only two to three years, we came away from the hospital sobbing in the car, entirely devastated as our little boy sat in his car seat not understanding or knowing what was going on.

At the youthful age of only four, Joseph died in February 2018.

The morning of his death was a tragic shock to us all. We did not even know who to contact to notify about his death. We rang 111 to be told to ring our local family doctor who arrived and certified his death. After which, she left our home and returned to work whilst our world had just stopped turning. Still in a state of shock and not knowing what to do, we received a knock at the door, it was the police. They came into our home and separated my husband and I into the kitchen and living room to begin an investigation into the unexpected premature death of a child. Being Joe’s mother, after the police had left, I felt so distraught and insulted that I was the main suspect of my own son’s death and had to prove my innocence as well as the fact he was terminally ill by providing medical documents with trembling hands. This ultimately, left a gaping hole in our family.

We now want to give Sarah as much as we can whilst she still has some sight as the future of her vision is uncertain. Sarah is currently receiving treatment at Great Ormond Street Hospital and having monthly infusions consisting of a low dose of chemotherapy to prevent the disease from developing and becoming cancerous. As well as this, Sarah is taking regular medication daily including another chemotherapy drug every Friday. Despite this current treatment, there is still uncertainty about whether or not it will be successful. We do not know what the outcome could be and any future treatment may be absolutely necessary. Her infusions may stop or keep going on. But they look as though they will be needed for a long time to come. She may need further hospitalisation, as the future is uncertain. However, we can make a difference. This money will help improve her quality of life at home and that is of the upright importance to us.

Unfortunately, due to the nature of the medication Sarah is taking, she has become immunosuppressed meaning she has a reduced ability to fight off infections. In due course, this has had an impact on her as she attracts the slightest flu that can become increasingly dangerous. Additionally, another downside to taking all of this medication is that Sarah cannot play out in direct sunlight as she can burn incredibly easily or suffer from sun stroke. Sunlight can also make it harder for Sarah to see as her eyes are sensitive to incredibly bright light whilst at the same time, she struggles to see if the light is too dim.

Sarah is now registered blind.

She has also gained weight because of the treatment she is receiving and can find it difficult to keep up with her friends.

After everything we have been through, Sarah has always remained our rock and now it is our turn to be hers.

As you have read, raising £20,000 will make a tremendous improvement to Sarah’s quality of life.

Thank you for your generosity.

UPDATE:

Sarah has had her operation and it did not go as planned. As two weeks after the surgery the doctor saw her and explained that the retina had partially detached again.

Sarah is now using a symbol cane which is proving to help Sarah with her mobility.