Learning: XP Family Support Group Conference
Wow! The amount of information poured into my brain this weekend was incredible! I’m coming home with a page long to do list as well as another page of questions to follow up on. I also have half a dozen pages of notes. We had a variety of speakers. There were several doctors from the NIH, where we visited last year, though Pacific’s team wasn’t there this year. They brought in researchers from Texas, Child Life Specialists, a dermatologist, and a number of XP parents. I’d like to bullet some of the information shared.
- “Dermatology”- Average age of non-melanoma cancers in XP patients is 9 years old. The average age of melanoma for XP patients is 22 years old. (Because Pacific was diagnosed early and able to be protected, we are hoping it will be many more years before he develops any cancers.) XP types A, B, and D burn like Pacific. Types C, E, and V don’t burn and thus tend to be diagnosed later.
- “My Child, Your Patient”- Presentation by the Child Life specialists at a local hospital.
- “XP Business Cards”- We got some fun examples of business cards about XP that people hand out to those they meet. A friend has made some for us which we will be ordering soon.
- “Across the Pond Update”- The UK is doing some amazing things! They have a clinic for XP patients with specialists in a number of areas on staff. They also have a protocol for children with severe sunburns or with freckling appearing before age 2 to be referred for testing. Sandra shared her son’s story and how he is raising money for a charity riding across the UK on a rickshaw.
- “Incandescent vs LED Lighting”- Luckily we already knew that LED was the way to go, but it was great to find out about some of the options available and find out about some of the specifics for picking out lighting.
- “Disaster Planning”- This was a very motivating session. I have some new ideas for making sure we are prepared in case of disaster, and in particular, making sure that emergency personnel know about Pacific’s medical condition even if I’m unable to tell them.
- “Erivedge and Skin Cancer Treatment”- This seems like a great option for some XP patients. Thankfully so far, this isn’t something we have to worry about with Pacific.
- “A Rapid Assay to Measure DNA Repair Capacity”- Amazing research happening in Texas! They are studying genome instability disorders including XP. A big advancement they are working on is developing a rapid test for XP. In the past, it has taken months to culture skin cells in order to test for DNA repair issues, but with new protocols they will be able to do it in less than two days! I’m planning to have blood samples sent so they can continue to refine the process, and as a part of that, we will be able to find out what percentage of functionality Pacific’s DNA repair mechanisms exhibit. Other therapies they are interested in are DNA repair agonists, stem cells, anti-inflammatories, and anti-oxidants.
- “XP Neurologic Disease: Possible mechanisms, ongoing studies, and gene therapy”- We saw pictures of what a neuro-affected XP brain looks like, and how it is different from a neurotypical brain. They explained how UV doesn’t go through to the brain, so they know the neuro issues associated with XP aren’t related to UV. One hypothesis is that ionizing radiation causes free radicals. The neurons are affected when two T bases stick together, and then they die, and the brain begins to have glial cells instead of neurons. Because neurons are affected, it is known as a primary neurodegenerative disease. Gene therapy to treat the neuro issues may become a possibility in the next few decades, which is a very exciting development! They would be replacing brain cells using cerebrospinal fluid.
- “Obstetric and Gynecologic Health in Patients with XP”- I skipped this session since it isn’t relevant to me as my child with XP is male. One interesting tidbit I gleaned from those who do attend is that some women with XP have early puberty, followed by menopause in their late 20’s. It was not clear to me if boys with XP are also likely to undergo early puberty, as the study referenced was just on females.
- “Siblings with XP”- We got some great suggestions on dealing with XP in our family. One idea was to
- “A Practical Guide to Living without UV”- One of the other XP parents gave some fantastic explanations and suggestions. One particularly interesting bit involves the special plastic we use for making XP gear, putting on windows, etc. He explained how there is a wavelength of UVA rays that don’t cause DNA damage. Our meter picks up those rays, and that is why we don’t get a zero read, but it still is safe for people with XP. He also shared information about what fabric materials provide the most UV protection, sources for UV film, and other details about UV safety.
- “Prevention of Skin Cancer in XP”- This researcher shared quite a bit about drugs that are being used prophylactically in DNA damaged areas to prevent cancers.
- “XP Round Table”- They spend between $50,000 and $75,000 to put on this conference for the families and medical professionals. They also have taken multiple trips to a village in Guatemala where many people have XP. On those they’ve provided medical care and education. They also filmed a documentary, and the trailer for it can be viewed below. I’d like to encourage anyone reading to donate to the XP Family Support Group. They are a non-profit, so if your company has a program where you can donate through payroll (and maybe even provides a matching donation!) I would encourage you to look into that.
There was also a lot of informal education. I may have cornered one of the doctors from NIH in order to seek out more answers about the neurology component of XP. What I found out was very encouraging and informative! Pacific has been diagnosed with delays in a number of areas over the last year- speech, gross motor, and educational (cognitive, social, and adaptive.) He is learning and advancing, but not as quickly as most other kids. Because Pacific has an approximately 50% chance of developing neurological deterioration as a part of his XP-D, we have been concerned that this could be an early sign of problems to come.
What I found out is that XP-D is the most complex of the types of XP. Because of where the break is in the Nucleotide Excision Repair gene, it can present differently in different patients, and it also affects more than just DNA repair. With XP-D there are transcription errors, which can affect not just repairing DNA that is damaged by UV, but producing proteins in general. The delays as he develops may be a function of his body just not building itself very efficiently, and not a symptom of the severe issues that can be caused by neurological deterioration.
Something else I learned is that many XP patients rather petite. They aren’t quite sure why this occurs, as tests have shown that they produce growth hormones normally. Pacific has also been rather small for his age and it is helpful to know that there is a reason for it.
This is just some of the massive amount of information shared at the conference. I have pages and pages of notes and am hoping to get copies of some of the PowerPoints since I couldn’t always write as fast as the presenters talked!
XP Family Support Group Conference- The Basics
We just left the XP Family Support Group Medical Conference in Kansas City. This conference happens every two years and brought close to 150 people from the US as well 5 other countries. The adults have three days of learning with topics ranging from the practical- making business cards to explain XP to people you encounter, to finding about current research on neurologic issues in individuals with XP.
Firefly Kids Camp happened at the same time for all the kids. They have crafts and games as well as education on healthy skin care. More importantly, they get to spend time with other kids whose families have been changed by XP. Liberty made fast friends with several other girls her age who have the same condition as Pacific. The XPFSG had made special arrangements for Pacific to be cared for and participate in kids’ activities while I was in conference, but his dad elected not to allow him to come at the last minute.
The final, but one of the most important components of the conference was connecting with the other families and enjoying time with your own. They arranged special activities for us each night- three nights at the indoor waterpark, a trip to Arrowhead Stadium, and a visit to Legoland and other attractions in Crown Centre. It was an amazing experience!
More posts forthcoming about the emotional intensity of the conference, what I learned, and the conference from a kid’s perspective.
Getting shared!
How exciting! Our blog was picked up by the Seattle Aquarium and shared!! I love that we are able to share Pacific’s story and increase awareness of XP.
Our Favorite Places- Seattle Aquarium
I’m hoping to start a series on some of our favorite places to visit with Pacific.
We have been blessed by the Seattle Aquarium. We began visiting there in early 2014. We’d gotten a membership the year before, just before Pacific was diagnosed, and in the hectic times that followed, never actually used it. With a month remaining on our membership, we finally ventured there, and found that it was almost entirely UV safe! The main building is completely safe with blinds closed, save for a single set of doors that is easy to avoid, and the other building was completely accessible with his shielded stroller, with several areas that were UV safe.
Pacific LOVES the water! He was born into the water and has been fascinated by it ever since. He also loves fish! It was one of his first baby signs, and one of his first words as well. When we go to the aquarium, we spend lots of time in the touch tanks, as well as wandering around the big underwater dome.
Pax can check out lots of different sensations- from the sticky or spiky anemones to the rough sand textured areas in the Hawaii area to the smooth glass mosaic tiles on the walls. Plus rubbery octopus tentacles!
What has made the Seattle Aquarium so special for us though has been the way they have welcomed Pacific with his special needs. One of their security guards, Angel, got to know us first. With a mild photosensitivity of her own, she took us seriously when we asked for the shades to be closed. From then on, every time she saw us come in, she would take the initiative to close them preemptively.
Then last spring, we happened to wander in on a day when they were having Toddler Playtime! There we met Jean, who runs that educational program among others at the aquarium. Despite her busy day, she took the time to listen to our story, and helped make the room safe for Pacific. When it started up again this fall, she remembered us! She checked and rechecked the windows, making sure that sunlight couldn’t slip in. She explained Pacific’s condition to the other staff as well. Yesterday, when we were coming down the hall, she went running for the blinds, getting the room ready for us before we even got there. Sean, another staff member who had only met Pacific once, remembered him by name when we were in the main part of the aquarium later that morning.
Pacific loves Toddler Playtime- they have sensory tubs set up with “ish” (fish) and other aquatic creatures, play dough, painting, pretend play, and other activities.
I’ve since gotten an aquarium for Pacific to encourage his love of fish at home as well, and it is the first thing he goes to when he gets into the house each day. I’m grateful for the part that the Seattle Aquarium is playing in helping Pacific to discover his world.
World opening up!
The last few months have been great for Pacific. He figured out that wearing his gear means he gets to go outside! We’ve gotten to go on adventures that were out of the question just this spring.
We started with some trials at dusk, when the UV levels were already low,
And after a few minutes of practice it was dark enough to take off the gear and play with our sister.
The grocery store was another safe place to trial wearing our gear.
But since then we’ve tried it for longer and longer periods at lots of different places!
At the park…
Our first boat ride!
Adding in some sunglasses so the bright sun doesn’t hurt our sensitive eyes. What a cool dude!
We even took our first trip to the zoo last week with a friend! The Zoomazium is a playspace that is almost entirely UV-safe where we could take off his gear after being outside seeing the animals for a while.
Another new achievement is Pax being willing to wear his headlamp at night so he can see where he is going. This makes playtime much more fun (and safe!)
Who knows where he will go next!
One Year
It’s amazing where a year can take you. This last one has been a journey. Pacific will be 18 months tomorrow, and it was the day before his 6 month birthday that we got the call that changed our lives.
I remember the first time I heard of XP. I was sitting the hospital room with Pacific at San Francisco General Hospital. His hands, face, and ankle were blistered and burned. We had him coated in Aquaphor. His skin was peeling away wherever the sun had touched it, even just for a few minutes. I was in a hospital gown myself. I hadn’t left his side in days. The doctors were puzzled, and I started doing my own googling. It came up on a list of disorders causing photosensitivity. And I knew. But no one else even seemed to consider it. My girlfriend told me I was overreacting. That it was one in a million… “What are the chances, Mel?” The doctors didn’t want to talk about it either. Not until everything else had been considered. While we were in San Francisco they just wanted to get him stable enough to come home to Seattle, and let them do the testing here.
On the morning of April 9, 2013, I received a phone call from Debby Tamura, a nurse at NIH. I don’t think she knew that she was the first one giving me the diagnosis of xeroderma pigmentosum. Really, it’s the kind of news I wouldn’t expect to get over the phone. We knew that a few days before the tests for porphyria had come back negative. We knew that there wasn’t much remaining that could have caused burns like that. Still, it hit hard. My then-partner was at work. A friend texted, asking if I needed a shoulder once I’d posted the news, and came straight to my house upon hearing my yes. I went into mom mode. I made appointments. I talked to other XP families. I reached out. I collapsed.
My partner didn’t handle it the same way I did. Kept reminding me that it was a “presumptive diagnosis”…. that we didn’t really know for sure that it was XP, that we shouldn’t get caught up in that being the diagnosis. I on other other hand needed to learn everything I could about this disorder that suddenly was changing our lives. I needed to accept it, to grieve. I had to process the idea that my child might be buried by his parents. I had to grieve the ideas of what I thought my son’s life could look like. I had to grieve the ideas of what I thought my family’s life would look like. I had to grieve the ideas of what MY life would look like. I feel like I’ve done a lot of that.
I’ve come up with new visions for my life with my son and daughter. In it there are UV hoods, doctor visits, NASA blankets, and sunblock. There’s also giggling and ticklefests, children’s museums and aquariums. There is still traveling, though altered somewhat. There’s friends, and there’s family.
I had no idea a year ago that I would be where I am today. I’ve learned so much about what true friendship actually looks like, and what it doesn’t. I’ve learned to cherish the little moments. I’ve learned that love doesn’t always come from the places you expect. I’ve learned that I can overcome so much, and so can my baby boy.
Siblings and XP
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.”
Arcadia, Liberty, and Pacific, a week after he was born.
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?
NIH: Day Three and Four
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.
In the playroom at The Children’s Inn
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.
Pacific with his medical team.
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.
The whole family with Pacific’s medical team
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.
NIH: Day Two
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.
Pacific Nights 