The last 6 months have entailed a lot of changes for all members of the family, including Pacific’s siblings. There’s something impressive, yet rather disconcerting, when your 8 year old can perfectly pronounce “xeroderma pigmentosum” and explain what it entails.
It’s been hard on them. One night after he was burned, I’d been up for 24 hours with a baby who cried every time I stopped actively bouncing him, and in desperation, woke my 13 year old daughter, offering her cash if she would hold him so I could get an hour or two of sleep. That was just the first time our family plans were disrupted, when a family vacation turned into Mom spending almost a week at the hospital with the baby while they were cared for by family friends. Our plans out East this summer were cancelled as well- replaced by a trip to a hospital in DC, with their grandmother along to take them on some of the sightseeing I had originally planned for June.
They worry a lot- about their brother for one. When he was in the hospital initially, they asked me if he was going to die. I told them no, but they could still see the worry on my face. They worry about their parents. Liberty and Arcadia are both empathetic and pick up quickly on when we are stressed. They worry about their family staying intact- they know the stress this year has put on their parents’ relationship.
They have been blessed by so many people who love them. They spent time in Indiana over the summer where they went camping with their grandparents. A family friend took Arcadia on a stargazing camping trip with their family before school started. So many times when friends are going somewhere, doing something interesting, be it the zoo, a book club, or a trip to the beach, they call me asking if Libby and Arcadia can come along. Friends from church pick them up for events when a long car trip would be miserable for Pax in covered car seat. A family from their school stepped in and not only arranged for transportation and supervision during classes, but worked with facilitators for extracurricular activities so that they could attend activities without straining our already tight finances.
They haven’t met many other kids who siblings with special needs, especially not with anything similar to Pacific’s. Seattle Children’s Hospital has a program that debuted here, but is now modeled after across the continent, that helps to meet this need. Their website describes:
“Seattle Children’s Sibshops are lively, pedal-to-the-metal, award-winning celebrations of the many contributions made by brothers and sisters of kids with special needs. Sibshops acknowledge that being the brother or sister of a person with special needs is for some a good thing, others a not-so-good thing, and for many, somewhere in between. They reflect a belief that brothers and sisters have much to offer one another – if they are given a chance.”
Many of our friends and family across the country have asked for ways that they can support our family as we deal with the challenges from Pacific’s disorder. Sibshops cost $100 per child for a year of workshops, one every other month through the school year. If you’d like to support our family in this way, I’ve added a “Donate” link via Paypal on the side of the blog. Your contribution would go directly to enrolling the girls in this resource. Any additional funds received would be put towards items on Pacific’s wishlist, such as a patio heater for outdoor playtime after dark in cool weather, or in trust for later needs.
Below is a post that Arcadia requested to write for the blog about her experiences dealing with Pacific’s condition, titled “Me and XP”.
When we were in Berkeley, at the family friends’ house, at night after his burn, Pax wouldn’t sleep very much. Mom was tired, and like the person I am, I felt the desire to stay up with Pax, at Mom’s request, rocking him so he would go to sleep. I felt like Mom had gone through enough and deserved sleep. I wasn’t going through NEARLY as much as she was.
It was just a tad unsettling at night, rocking Pax, wiping him with a damp cloth so the liquids trickling from his pores wouldn’t clog. I listened to his whines and looked at his face, so bloated, cracked and messy that his eyes were swollen shut, the pus crusting his eyes. Thank goodness for Netflix on the iPad or I would have gone crazy. As a human, i needed to have some background noise, some distraction so that I wouldn’t concentrate on someone that needed help that I couldn’t give.
I felt, and still feel almost guilty to reminisce on the past, when Pax was a newborn and we could have the windows open and take him out in the sunshine. There are several memories I think on fondly, the day we had the family pictures, Pax’s first Christmas, the first time Pax went to the beach, and the day Pax was born, most of all.
You know, now I wonder, if we hadn’t gone to Berkeley, would we have found out about Pax? What would life be like now if we were ignorant to Pax’s disorder? Are we actually fortunate to have found out so early?
Day Three was a mixed bag. We finished up earlier than any of the previous days, around 3pm. Pacific had an audiology appointment, which confirmed for their records the normal hearing screen he had at Seattle Children’s a few weeks ago. The rest of the day was spent going over test results and getting education on XP.
Pacific’s neurological tests all came back with good news. He is developing as he should, and his brain structure looks mostly normal. The lab tests we already received were normal, and we should get the results for those yet to come back soon. One of the most important things they are checking is his Vitamin D levels. Because he is protected from sunlight at all times, he requires daily supplementation to keep him healthy. (With us being from Seattle, Vitamin D supplementation is par for the course for most residents already, but it is particularly crucial for him.) Speaking of Seattle, the doctors said that they have previously recommended our city as the best place in the US to live for patients with XP due to the low UV index.
We learned about the genes that are a part of the DNA repair process. There are 8 genes, each with a slightly different job, such as identifying damaged DNA, cutting away damaged DNA, and repairing sections that have been damaged. When one gene is defective, the entire process is disrupted, and the remaining damaged DNA can cause cancer. The doctors have found that Pacific most likely has xeroderma pigmentosum type D. It is the second most common in the US. It also is the source of most XP patients who have neurological issues. About 50% of those with Type D have some sort of neurological issues, from mild to severe, while half are completely unaffected by those problems. Some people have these issues present in infancy, while occasionally there won’t be issues until adulthood. The median age of neurological issues coming into play is between 7 and 12 years old. We’ll be getting Pacific enrolled in early intervention services soon so that any potential problems can be identified and addressed.
Wes and Arcadia took a shuttle bus with other Children’s Inn residents to the Renwick Gallery for the rest of the afternoon after we finished up our appointments. When they got back, the whole lot of us walked into Bethesda to a CVS and dinner. The Tastee Diner was an unexpectedly unique experience. We apparently stumbled into a local favorite through laziness and indecision, and had some of the best waitstaff I’ve experienced in years. The NIH campus is a giant maze, so on our way back we took the scenic route to say the least. Thankfully campus is gorgeous, and we even got to see a doe with her two yearlings.
Day Four at the clinic was blissfully short. We came in early for rounds at 8am (5am Seattle time). Fifty or so medical students and doctors filed in in groups of four to look at Pacific, and pictures from his time in the hospital. We were instructed not to answer their questions, as after leaving our room, they conferenced to discuss what the diagnosis might be for a patient with his symptoms. Several definitely appeared to be on the right track by the questions they tried to get us to answer and the specific things they were examining. We ended our time at the clinic with hugs from the medical team we’ve been working with, and promises to keep in touch.
We’ll be heading off in a shuttle for the airport shortly, and should be back in Seattle just before 10pm. I’m hoping to spend as much of the day as possible tomorrow doing absolutely nothing. I’m so grateful that we were able to come out here and both get answers for our family about Pacific’s condition, and to help the researchers find answers for all those with XP, both now and in the future.
Yesterday was exactly 6 months since Pacific was burned. 6 months since the last time I traveled. 6 months since my life changed forever. He’s officially spent more of his life hidden from the sun than not at this point. What a place to be on the anniversary of the day things changed for our family.
Today the girls were able to go exploring with Nama (my mom). We left for our appointments while they were still sleeping. We started off the day with Neuropsychology. This appointment was a piece of cake. With my early childhood background, I have been able to be confident about Pax hitting his milestones on time, and the visit mostly consisted of me answering questions about what markers he has hit in the social, physical, and other domains.
After this, we checked out the playroom on the NIH campus until our next appointment. Pax had the room all to himself with three grownups and loved getting all the attention. We headed back up to our base on the 13th floor after this, and met with a psychologist who specializes in families coping with major medical issues. I learned the challenges of attempting to keep an 11 month old perfectly still for a CT scan without the use of a papoose board or anesthesia (finally padding the area around his head thoroughly and using Coban tape and a soothing rendition of “The Wheels on the Bus” to keep his head in place for the few seconds it took to run the scan.) Neurology was next, and was a simple appointment, testing basic functions and again talking to us about what milestones he had reached.
While this may not seem like a lot of appointments in an entire day, we didn’t stop moving from the time we woke up until collapsing into our hotel room around 4:30. There aren’t many moments when we aren’t expected to be 100% on to talk to doctors, nurses, and specialists. We have an exhausted baby who isn’t sure what a schedule is any more, and parents who would think that with jet lag, they would be wanting to go to bed three hours late, not three hours early, but that isn’t the case.
I’m incredibly glad that we have this resource available to us. I feel less alone in some ways. I’ve met other parents who have children with incredibly rare life-threatening genetic conditions. I’ve met patients who are getting life-saving experimental treatments. I’ve met medical professionals who know each of their patients by name, along with their parents, siblings, and stories. Our nurse has dedicated the past 10 years of her life to work to working with patients with XP, and has been with us from the beginning of each day until we go back to the Children’s Inn, when she continues at the hospital for hours more.
There’s a lot of processing to do. I’m grateful for the quiet moments when Wes or my mom takes charge of the kids and I can sneak away to update this website and recharge for a bit. I’m grateful for the restaurant that will be delivering us some dinner shortly. I’m grateful for all of the people thinking of us back home.
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.