After a day of travel, today was our first day at NIH, and what a day!
The National Institutes of Health study a number of rare conditions, including xeroderma pigmentosum. While there currently is no cure, they hope that by studying individuals who have this diagnosis, they will one day be able to treat it. We feel so grateful that NIH was able to bring my mom and the girls out to NIH with us. After their donation of some blood for XP research, they’ll be able to explore DC whenever they don’t need to be at the clinic with us.
We left Seattle at 8:10am yesterday (requiring us to be at the airport at 6:10am). This was Wes’ first time flying with kids, and Pacific’s first time flying in general. We were disappointed that Pax’ seat near the window had UV reads too high for our comfort once we got above Seattle’s cloud cover, but he was generally agreeable and even napped twice while we were in flight. After a 4+ hour flight, we landed in Washington DC in late afternoon, followed by my mom’s flight getting in within an hour of ours. After catching a shuttle, we arrived at the National Institutes of Health campus around 7pm local time.
We took care of hospital admissions early, and were able to settle into The Children’s Inn, a special facility that is set up for families receiving care at NIH. Various businesses and community groups provide dinner to families staying there several times a week, and despite the late hour, we found taco fixings in a community fridge, along with a pantry stocked with things we could eat for breakfast.
With darkness already set in, but us on West Coast time, all three kids (okay, and the parents too) got to explore the amazing playground outside. This was Pax’s first time playing on the swings and other such things since the day he was burned, 5 months ago. I never would have pictured our life taking us here 6 months or a year ago, but at that moment as I watched my kids play, life felt right again.
We were up bright and early for our first day of appointments, starting at 9am local time (6am for those of us from the other Washington!) We were greeted by the wonderful Nurse Debby Tamura, who had been the one to give us our presumptive diagnosis over the phone, and talked us through many of our questions. There were the usual consent forms and history taking, which took up the majority of the morning. Wes and I had skin biopsies taken so that they can grow skin samples. The entire family, including Nama, had blood drawn and their skin checked for any abnormalities. The afternoon ended with a photo session of all of us with closeups of the little guy in order to track any future changes. Nurse Debby was with us the entire day, guiding us from one appointment to another. I had heard such wonderful things about her from my friends in the XP Family Support Group, and they were all proved true today!
One expected, but disappointing part of the day, was hearing that they have found difference’s in Pacific’s DNA. There are 8 different types of XP, and we will likely find out what type Pacific was born with on Wednesday. This most importantly should give us a better idea of the likelihood of neurological issues as he gets older, enabling us to better plans for his needs.
Tonight we again ate a community provided dinner, and Wes took the provided shuttle to the grocery store for a few needed items. The kids made their rounds of the playroom, outdoor playground, games room, craft room, and toddler play area. Arcadia is honing her skills in air hockey against her mother and sister. The Children’s Inn has even more spaces than this, including a learning center for those with longterm stays, a teen room, exercise room, reading areas, quiet rooms, and more.
Tomorrow we delve into the workings of the brain- seeing neurology, neuropsychology, and a CT scan among others. Much of this is to establish baselines for Pacific so that we can track any changes that may occur as he grows. The girls will be able to take the Metro from the NIH campus and get their homeschool work in for the week exploring national monuments and museums.
Because of Pacific’s disorder, he cannot be exposed to UV light. UV comes primarily from the sun, but it is also present in some artificial forms of lighting.
We are learning all about the precautions we need to take to keep him safe. To help with this, we have a UV light meter. There is no known amount of UV that is safe for Pax, but because we can’t protect him 100% of the time, we aim to at least keep his UV levels below 10. To give perspective, the UV levels outside even on cloudy days can be up around 1000. Windows filter out some UV, but not enough for Pax unless they are specially treated.
We love suggestions of local places that look like they’ll be safe for Pax, as well as being able to visit friends. If you’re up for doing a little bit of scouting, here’s what you need to know. If you aren’t sure if a space would be safe for Pax, just ask us. We can get a general idea from a description or photos, or can check it in person with a light meter.
Artificial light sources:
- LED lights
- Incandescent lights
- Fluorescent or halogen lights with covers
- Sometimes Safe
- Fluorescent or halogen lights high off the ground
- Not Safe
- Bare fluorescent or halogen bulbs
Natural Light Sources
The UV from the sun can penetrate through clothing and glass. For Pax to be outside safely, he must wear two layers of UV treated clothing or denim, over a layer of sunscreen. He must be covered from head to toe, including a shield of UV protecting plastic attached to a hat and over his face. (Remember, sunscreen doesn’t protect his eyes or the inside of his mouth!)
- Windows with light blocking curtains
- Outside after dusk
- Sometimes Safe
- Windows treated with UV film- not all films are sufficient- we need to test with our meter to be sure
- Windows with blinds (blinds are sufficient, but there are often small holes where light beams come through and are an issue)
- Distant windows
- Not Safe
- Bare windows
The consequences of UV exposure of Pacific are very serious. In an acute sense, short term exposures can leave him with severe burns over all exposed portions of his body. Over the long term, his DNA is unable to repair the damage done by UV radiation, and that leaves him with a 10,000 higher chance of skin cancers compared to the general population, and a 1,000 increased risk of eye cancer as well. Thankfully, with our UV meter from the XP Family Support Group, we are able to know for sure if we are keeping him safe at any given time.
This is the story of how Pax was diagnosed with xeroderma pigmentosum, and the events leading up to it. There are some graphic pictures from his time in the hospital, and you may not want to read this post if you would be sensitive to viewing those.
Pax was a healthy baby. He was born a few weeks early, October 10, 2012, but had no medical issues in his first months of life. With his fall birthday, he had little exposure to the sun, since it was too chilly to take a newborn outside much through the winter.
In March of 2013, I took Pax and his two sisters on a trip to visit friends in the San Francisco Bay area. We went by train and got there early the morning of March 22. The next day, we went to the park in the afternoon. It was a perfect temperature- not too hot, not too cold. We spread out blankets in the shade for the babies while the older kids played. As sun kept ducking behind some clouds, we moved out of the shade to be a little warmer. I hadn’t brought sunscreen on our outing, so I just used the shade from my body to keep him out of the direct light for the most part. He was out in the sunshine for about half an hour total.
We noticed some redness and then swelling over the next 24 hours. We thought at first it might be a bug bite, since the swelling was mostly under one eye. A little over 24 hours later, one eye was almost swelled shut and the other was swelling as well. The nurse helpline from his insurance finally said we should take him in, and I rented a car and drove an hour and a half to Sutter General Hospital in Sacramento, where insurance told us was the closest place he would be covered.
We got to the hospital around midnight and were taken to a triage room. A medical assistant quickly looked at him, chastised me for not having a hat and sunscreen on him, and sent us home, telling us to just put aloe on his burns. I asked repeatedly to be seen by a doctor, but they wouldn’t do so.
The next two days were miserable. Pacific was in constant pain, and would only sleep in fits and start while being bounced. Children’s Tylenol did little for the pain. The swelling and weeping spread, and where the fluid dried, his skin would peel off. I kept in touch with his pediatrician’s office in Seattle over the phone, but since he had already been seen in an ER and determined to not be in need of treatment, they didn’t have me bring him back in.
Finally on Wednesday, March 27, the insurance nurse help line gave approval for me to take him in again. He hadn’t had any wet diapers in over 8 hours and was severely dehydrated. This time they sent me to San Francisco General Hospital, an hour close to where I was staying in Berkeley. Upon seeing him, they sent us upstairs immediately and they started him on IV fluids and morphine. He was admitted for the night, and slept restlessly in my arms while the IV rehydrated him and attempted to keep his pain under control. Whenever his pain would spike, he would have issues with tachycardia, and they kept him on a heart monitor.
The next day, they finally seemed to find a pain med combo that worked for him, and started to be awake and alert that evening. When it became clear that we wouldn’t be leaving the hospital anytime soon, my partner and my girlfriend drove the 14 hours down from Seattle to be with us and arrived Friday morning. He was having longer periods of being awake by then, and they began weaning him off of his IV fluids.
We were discharged on Saturday afternoon, almost exactly a week after his initial burns. We took a few hours to pack up, then drove through the night to get home to Seattle, since he couldn’t be exposed to any sunlight, even on the car ride.
We arrived home late Sunday morning and all fell asleep for several hours. When we woke up, we found that Pax had spiked a temperature of 102.8, so we went to the Emergency Room at Seattle Children’s Hospital. His temp reached as high as 103.8 before meds brought it down finally.
The main concern was a blood infection from the burn site. They admitted us to the hospital and began running tests. They collected urine to test for porphyria, another condition that causes severe sun sensitivity, and sent that off to a lab in Texas. Labs eventually showed that his fever was due to RSV, which he had likely picked up during his hospital stay in San Francisco, and a UTI, which we believe he likely contracted during his catheterization. Because UTIs are rare in infant boys, they did an ultrasound where it was discovered that he has a duplex left kidney, a relatively common and minor defect. We spent two nights at Seattle Children’s Hospital before being discharged.
The next week was spent at home keeping him isolated while his immune system was compromised. We found out on April 5 that the tests for porphyria had come back negative, which left the scariest of the potential diagnoses remaining.
On April 9, the day before Pacific turned 6 months old, I received a phone call from the National Institutes for Health. Tests had ruled out all other diagnoses that would cause the severe burns he had experienced. They were giving us a presumptive diagnosis of xeroderma pigmentosum. I spent about an hour on that initial phone call, trying to absorb as much information as I could. A few weeks later, they took a skin biopsy and sent that with blood samples to NiH for genetic testing. That may be able to confirm the diagnosis, but because this disease is so rare and there are multiple forms of it, it is possible that genetic confirmation may not be possible.
We have been lucky in many ways. We learned of Pacific’s condition before he had much sun exposure, and because of that we are able to modify his environment to keep him protected from UV, giving him a good chance of living a long life.