My Story: For Adelinde

We all know the importance of seeking shade and covering up to avoid the sun’s harmful UV rays on a hot, sunny day. But, what if being exposed to even the smallest amount of UV radiation could be deadly?

We had the honor of speaking with an incredibly strong woman, Christi, about her adorable daughter, Adelinde. Adelinde has been diagnosed with Xeroderma Pigmentosum. This genetic condition makes her susceptible to harm from even the smallest exposure to UV light.

This is Adelinde and Christi’s story.

My Story: For Adelinde

Can you please explain what Xeroderma Pigmentosum is, how it affects individuals, and what it is caused by?

Xeroderma Pigmentosum (XP) is a rare genetic condition that causes incredible sensitivity to Ultra Violet (UV) light. With XP, the DNA can’t repair itself when exposed to any type of UV light, either directly or indirectly, or even from certain types of light bulbs. People with XP are between 2,000X – 10,000x more likely to get skin cancer than someone without XP and people with XP have a nearly 100% risk of developing multiple skin cancers without very careful monitoring and limiting of UV light exposure. In addition to being a high risk for skin cancer, XP can also affect vision, hearing, and the nervous system. The type of XP that my daughter, Adelinde (Della), has put her at a higher risk for neurological degeneration in addition to being extremely sensitive to UV light. XP is an inherited autosomal recessive condition, where both parents are “carriers” of a recessive mutation in the same gene, and both parents pass the mutated gene onto their child. In all cases of XP, the DNA’s repair mechanism called nucleotide excision repair is unable to repair UV light damage. This is what causes cancer and pre-mature aging for those with XP.

How was your daughter diagnosed with Xeroderma Pigmentosum?

Della was diagnosed with XP at 11 months old. The journey to her diagnosis felt like years, not months. Adelinde’s first sunburn occurred at 7 days old when she was outside for under 10 minutes on a cloudy day without being exposed directly to sunlight. Neither myself, my Mom who is an RN, or our pediatrician could figure out what exactly was going on with Adelinde’s skin – was it a rash or an allergic reaction? We thought that perhaps it was contact dermatitis, or an allergic reaction to something I ate that was getting passed through my breast milk. Whatever it was it went in cycles and each week the symptoms would come back and they appeared to be getting worse and spreading across her face to her neck and ears and her hands. We didn’t understand it was a sunburn until Memorial Day weekend 2019 when her face swelled to the point that she couldn’t open her eyes and she ran a fever of 102. Because of this, we rushed to Seattle Children’s emergency room and had a several-day hospital stay. An on-call dermatologist stopped by and identified what we thought was a rash, as a severe sunburn.

We were referred to the Seattle Children’s dermatology clinic and got a follow-up appointment three weeks later, and were told to not expose her to direct sunlight and to call back if things got worse. Inevitably they did. When we came back, at both my and our pediatrician’s request, I received a referral to a specialist at UW (University of Washington) who dealt with rare genetic disorders. We saw the specialist in late August, and she walked us through the various genetic conditions that could cause photosensitivity at such a young age, the discussion was horrible. The only good news, was that most of the conditions involved some sort of physical deformity or cognitive delay, and Adelinde didn’t have either yet – we weren’t out of the woods, but without genetic testing, we wouldn’t have answers.

It took months of advocating for testing—despite the specialist’s recommendation. The dermatologist recommended a “wait and see” approach. However, I and our pediatrician advocated and challenged that decision over and over again until the dermatologist agreed to submit the paperwork for genetic testing. When we received the results from the testing in April, I knew being an advocate on behalf of my daughter was the right choice. The wait and see method that the dermatologist recommended would have worked in the sense that we wouldn’t see physical sunburns, but the permanent and lasting damage from repeated UV exposure would have caused skin cancer to appear maybe not today, but in the near future. Now that we know, we can do everything possible to reduce UV exposure so that she will be much less at risk for developing skin cancer.

What is the treatment for Xeroderma Pigmentosum?

There is no known treatment for XP. Reducing the amount of UV light exposure as much as possible (none would be the best case scenario) is the only way to reduce the risk of developing skin cancer.

CRISPR and other gene-editing therapies show distant promise, but little work is being done on curing XP.

People with XP use tools like a SolarMeters to detect the UV light levels at a very sensitive level. A reading of less than 10 is considered “safe” however with some of the different gene mutations with XP the level needs to be at a 5 or lower.

The best hope is that research into anti-aging and cancer-fighting drugs will produce treatments to keep the more lethal symptoms at bay. Right now there’s no expectation that children born with XP will ever receive treatment that would let them play safely outside during the daytime, or live fully normal lives.

How has your lifestyle changed since the diagnosis?

Our life has been turned somewhat upside down – it is a complete lifestyle change to avoid UV exposure. From what I’ve heard from other families of XP children, it will only get easier as she grows and as we develop a rigorous system or a routine. Right now we’re learning. We’re trying to get her environment protected (inside our house, our car) so that it is UV safe. We’re implementing routines that we have to follow every time we go to open a door, a window, or try to leave the house with her so she can be safe.

We used to spend every weekend outdoors, working in our yard, going for hikes and walks – right now we have to divide and conquer. One of us doing outdoor activity with our 4 year old, and the other stays with Della inside the house. We do go on family walks if it’s cool in the evenings – with her in the UV protected stroller.

On a cloudy day here in Washington the UV meter can read between 300 – 600, on a sunny day the meter stops functioning once the level gets above 2000. Why is this important? Because in order for it to be “safe” for my daughter the meter needs to read 10 or less. This means that in order for her to go outside even on a cloudy rainy day, she needs to be fully protected from head to toe, with zero skin exposed. This means a full application of sunblock, a UV-sun protectant hat with a UV light blocking face shield, gloves on her hands in addition to clothing that protects her skin and brings the UV reading down to 5 or less. Since she is so young and isn’t walking yet, the hats with shields get in the way of her crawling, so we have both a specially made car seat cover and stroller cover with UV blocking plastic.

What would you most like people to know about Xeroderma Pigmentosum

Johanna Sweet explained it the best in a post on April 29th about how resilient, strong, and brave individuals with XP are.

The post reads: “Imagine that the COVID virus could be contracted just by breathing in fresh air. That it was everywhere in fresh air. That every time you did get some of the virus particles, it damaged your body and too many would definitely eventually kill you. Every time you went outside you had to thoroughly wear your mask and make absolutely sure it was perfect to save your life. Every mistake could add up and kill you. Imagine gearing up to open the door or window cause the particles will come in with fresh air. Imagine. What if this were permanent. You had to live the rest of your life this way. Imagine it was in every breath you took outside every. single. day of your life you had to prepare and gear up! Would you be scared to go outside? Would your framework on life change? Would you overcome your fear and trust yourself and live life to the fullest?”

This COVID fear has me realizing how resilient, strong, brave, and courageous all patients living with XP are. They deal with this scare more deeply and every day of their lives. UV from the sun and lightbulbs are everywhere.

What has been your greatest source of strength and/or motivation through this?

Right now our greatest source of strength is our faith. That combined with the support from other XP and Cockayne Syndrome families that are helping… They provide me with hope and insights on what we should know and need to be watching or doing.

Are there any motivational quotes, poems, or songs that give your strength and motivation through this?

“For I know the plans I have for you, says the Lord. They are plans for good and not for disaster, to give you a future and a hope. English Standard Version. For I know the plans I have for you, declares the Lord, plans for welfare and not for evil, to give you a future and a hope.”
Jeremiah 29:11

What is the most important thing you think people should know about sun protection?

Everyone assumes that because we’re in Washington that it’s safer for Della and that individuals don’t need to worry about sun protection. But it’s not the case. I’m a fair-skinned (translucent) redhead who has burned easily my entire life. I don’t tan, but I do freckle and the freckles I’ve received are due to the skin damage I’ve experienced from UV exposure. Even though I carry the recessive genes that my daughter inherited, I need to be cautious and protect myself.

I come from a long line of individuals on my father’s side who have had skin cancer, including my 41 year old sister who was diagnosed this last year.

My sister’s diagnosis was a wake-up call that I need to get checked regularly because of the issues that run in my family.

Della’s diagnosis was a wake-up call to understand just how much UV exposure we experience, even inside a house on a cloudy day. The UV meter made me realize how little protection we receive from light colored and cotton shirts, which I assumed were enough.

Do you have any final thoughts or additional info you would like people to know?

Today, face masks are a little more commonplace, but for our children, it’s a way of life. My son had to wear a helmet for Brachycephaly and plagiocephaly for 8 months, and people would stare and make weird and awkward comments. It’s so tough as the Mom, listening and wondering how the comments will impact your children.

I want people to know, it’s okay to ask questions. Please ask, but be cognizant that the words you use do have an impact. Teach your children that it’s okay to ask questions, and teach them how to politely ask questions instead of staring or making awkward comments from a distance. Della will be resilient and she’ll know how to respond and answer questions, but it doesn’t mean that she won’t have feelings.

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