Khadija and Adam are siblings who share very different stories based on early testing and diagnosis for Refsum Disease. Khadija was diagnosed with Refsum disease when she was ten, while her younger brother, Adam, was tested at 6 weeks old and with proper nutrition, has been able to stave off the disease itself.
How did your diagnosis come about, and how old were you?
“The first symptom noticed by my mother was resting nystagmus, and night blindness at the age of 3. I noticed that when it got darker outside, I struggled to see and was clinging on to her very tightly.
I was subsequently referred to the ophthalmologist, and diagnosed with RP, and nystagmus. It was not until several years later, at the age of 10, I was referred to clinical genetics at Saint Mary’s Hospital by the ophthalmologist, where I was later diagnosed with Refsum’s disease, with a PA level of 880umol/L.
Following my diagnosis, I was admitted as an inpatient where I had a permanent hick-man’s line fitted and received repeated courses of plasmapheresis. My body did not respond to plasmapheresis very well, I think this was due to weight and blood loss. I remember on 2-3 separate occasions, I had fainted following plasmapheresis treatment, straight after being disconnected from the machine. This treatment was therefore unsuccessful for me, and hick-man’s line was removal. I continued management via low phytanic acid diet.”
Photo of Khadija that she was nice enough to send.
When was your sibling diagnosed? If not diagnosed, what prevented that?
“Following my diagnosis, all my siblings were tested, and thankfully my elder brother and younger brother were not affected by Refsum’s. My brother Adam was born several months after my diagnosis, and he was tested when he was 6 weeks old with a PA level of 51umol/L, he was put on a low phytanic acid diet.”
How was your family impacted?
“It was a shock to everyone, especially my mother. She had to prep our meals separately, making sure there was no contamination with food we needed to avoid. It was very difficult at first, but later they adjusted their diet, and started to have some of the same dairy products as me and Adam, apart from milk.
Adam was very young, so my mother had instructed the sibling to eat the foods we needed to avoid in another room, and not in front of him and I.”
What were the next steps recommended for you?
“Following the unsuccessful treatment of plasmapheresis, the next recommendation was a liver transplant in the United States. Our GP advised not to go ahead outlining the risks. Instead, I continued with the low phytanic acid diet.”
What do you think has been the most difficult part of living with Refsum for you?
“For me, I went through a lot of difficulties. My late diagnosis caused multiple eye conditions and worsening of vision in my late 20’s impacting me in many ways.
I do not feel confident going out alone, as I have had many falls, and eight keyhole surgeries to repair ligament tears/damage. I have lived with cataracts for many years which I had thought was the worsening of my condition, and I feared becoming completely blind. It was not until I had an acute episode of uveitis in both my eyes that I was referred to the ophthalmologist. It was so urgent that I was seen within 24hours and that is when I was told I had bilateral congenital posterior polar cataracts, and narrow angles glaucoma. The type of cataracts I had formed at the back of the lens, and I was told that I was at a very high risk of intra-surgical complications, and may require more than one procedure.
If my diagnosis had come earlier, I think I would not have faced the difficulties I am facing today. My brother Adam, who was diagnosed at the age of six weeks, does not have any eye related conditions.”
Can you share any mental health practices you use to help you stay positive?
“I have faced many life difficulties/challenges but, I focus on positivity. I take part in relaxing activities (hot tubs/jacuzzi), exercise/gym, and prioritize sleep. I also prefer alone time, dinner out with family, and coffee shop with friends.”
In what ways do you think the Global DARE Foundation has helped you or others with Refsum?
“I found the Global DARE Foundation site very useful. When I first discovered the site, I realized that I was following the dietary guidelines from when I was first diagnosed, which was from the 90’s. It was not until April 2022, when I was referred to GST Hospital and I was then moved to the new dietary guidance. There is a lot of great information and webinars on the site and that were interesting to watch!”
What is your message to individuals or families navigating a Refsum diagnosis?
“Support the individual diagnosed in the best way possible. There are plenty of resources available on the Global DARE Foundation website. You will also find updated dietary guidelines, along with other recommendations and advice to help minimize the deterioration of the condition.”
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