Nearly six weeks ago my life, my family’s life was oh, so very different. My biggest concern at the moment was whether or not I needed to have a prosthetic made for my newly, partially amputated toe. I was also still recovering from my fourth surgery in an 8 month period. I have two daughters’ with chronic health conditions too. Managing all of that with the daily dealings of a household of five children can be daunting at times. But, with the help of my 18-year-old we got through this past year and all that was thrown at us until…
I took my youngest child, Oliver to the dermatologist nearly six weeks ago to have a mole on his cheek looked at. He had some freckling on his face and lips as well. Oliver has always scratched himself from birth and was diagnosed with eczema. I also thought a lot of his issues were due to our family’s history of severe environmental allergies. So did several of his other doctors. The dermatologist diagnosed him with eczema, a blue nevis mole but also said he wanted me to have Oliver’s heart checked out. He thought Oliver may have Carney Syndrome ( a heart condition that manifests with freckling of all things). I was taken back with the diagnosis so I took Oliver into see his pediatrician the following day. She was a bit perplexed as well. She attempted to contact the dermatologist but was having a difficult time communicating with him. Oliver’s pediatrician then referred us to a pediatric dermatologist. I was able to get an appointment with her rather quickly (she was leaving the country for several weeks). My husband was out-of-state working so I took Oliver to see the dermatologist by myself. I undressed him and after examining Oliver she left the room. His dermatologist then reappeared with another physician and three ginormous medical textbooks. They were throwing out words like bloom syndrome, XP and other words I cannot recall. The two doctors were discussing XP and both concurred that they thought Oliver had xeroderma pigmentosum, or XP for short. The other physician left and Oliver’s dermatologist placed her hand on my shoulder and said that she knew it was a lot to take in. She began to tell me that Oliver could never be outside in the sun. That our family vacations to Hawaii (being an airline family it’s cheaper than Disneyland) would never come to be again. She said I had to take Oliver home and slather him in a zinc sunblock every two hours, clothe him in long sleeves and pants with socks, a hat and sunglasses INSIDE! His doctor said that I would have a lot of questions, so she wanted me to go home and write them all down for her and call her the next day before she left the country. She told me that I needed to take Oliver to see a geneticist and then follow-up with her in 3 months. I had tears in my eyes as I left the office with Oliver. I bundled him up and ran for the shelter of our vehicle (which at this time had no tinting to protect him from the UV rays). Then, I did the worst thing ever and googled XP. If you happen to google xeroderma pigmentosum you will see some pretty graphic photos online. You will also read about children with XP dying by the time they reach the age of 10-12 years old, or their 20’s if they are lucky. This is all I had at the moment. I called my husband who was on the east coast at the time and just sobbed. Having to hear such a diagnosis and for us to be separated across the country was excruciatingly painful. All I could do was call my parents, cry into the phone while trying to explain what Oliver was diagnosed with and then hang up. I just could not talk to anyone else. I immediately ran out and bought mylar emergency blankets to cover all the windows with. I called a member from my church and he and his son kindly came over with their giant ladder and helped Savannah (my oldest) and I, to cover the windows we could not reach. When this didn’t work I went out and bought reams of tin foil. That was the quickest fix I could think of to keep Oliver safe without having to go through such extreme precautions that his dermatologist advised. It was still so hot with the air conditioning running at full blast that it was not practical to keep Oliver bundled up. He was overheating. I spent the next several sleepless nights crying and researching what I could about XP. I kept seeing this XP Family Support Group website but I thought it was just a group that talked and listened to you. Well, I made a call and left a message to inquire about the pricing for a hand-held UV meter. The next day Michele Milota, Executive Director of the XP Family Support Group called me back. She was an answer to our prayers.
The XP Family Support Group has truly been our lifeline. Michele has a daughter with XP and she formed this group about 6 years ago since she didn’t have any resources to turn to at that time. Michele talked to me for quite a long time. She highly advised against googling XP. Sorry that was already done.Most importantly Michele gave me hope. She told me about all these other parents with children who have XP and what they are doing to keep their children safe but also how they can help their children live a more normal life. It’s all in the planning and protective gear and precautions. Michele has arranged for our vehicles to be tinted so that we can safely transport Oliver and she has arranged for our home to be tinted as well. This is such a blessing for us because we have been living in a cave for nearly six weeks with our windows blacked out. Michele put me in contact with several moms across the country, as well as my husband in contact with other dads across the country who have children with XP. Seeing that only about 250 people in the United States and 1000 worldwide are afflicted with this rare autosomal recessive disorder, the families of those afflicted with XP are a tight-knit group.
Having xeroderma pigmentosum means that Oliver can never go outside during daylight hours. He cannot visit another home or building unless the doors are shut and the windows are protected with a special UV protective tint. If he is fully geared up in jeans, double layered on top with a tightly woven jacket, gloves, shoes, socks, sunblock and a specially made hat and hood, weather permitting, Oliver can venture outside a bit. This has proven to be very difficult because he is only two years old and it’s not always easy to get him to cooperate. On most days we just spend our days inside. This is FOREVER. This is not something he can grow out of. It’s genetic. Oliver’s body does not have the ability to repair DNA that has been damaged by his exposure to UV lights (both sunlight and indoor UV emitting lights).
I spoke with Michele for the first time on a Saturday. Two days later all of Oliver’s pictures and information had already been sent to Dr. Kraemer at NIH/NCI (National Institute of Health/National Cancer Institute)in Maryland. Michele was also able to arrange for Oliver to see Dr. Bari Cunningham in Encinitas just 9 days after his initial diagnosis. Dr. Cunningham is amazing. Not only is she smart and professional, she has a genuine compassionate heart for her patients. We have driven to see her twice now in the last few weeks. The first visit she concurred with the XP diagnosis and even called Dr. Kraemer while we were visiting. He has concurred with the XP diagnosis despite not physically seeing Oliver. Dr. Cunningham took a biopsy from a cyst on Oliver’s back. The results came back as a leiomyoma tumor. It was a bit perplexing. She also doesn’t think he has NF but wants to rule out the possibility that Oliver may have NF as well. We have seen a neurologist and she seems to think he does not have it as well but will defer to what the geneticist may say and do. Oliver does have cafe au lait markings on his body as well. Oliver had his biopsy for XP a week ago. We won’t know those results for another two months. We are anxiously waiting to hear what variation of XP that Oliver has. Some XP genes are at significant risk for having neurological abnormalities. Oliver is scheduled to see Dr. Kraemer at NIH in February. We look forward to flying back there and doing clinicals and meeting him and his awesome nurse, Debby.
Yesterday, I took Oliver to Children’s Hospital at their Arcadia location. Oliver was seen by a ophthalmologist for the sun damage that he has on his right eye. She is referring Oliver to an ocular oncologist for him to look over Oliver’s lesion and determine whether or not it is the beginnings of cancer in his eye. This two-week wait is going to be the longest two weeks of our lives. We were already warned that Oliver would most likely have his first surgery to remove cancerous lesions from his face within a year. But this just kind of snuck up on us a whole lot sooner.
This has been life changing not just for Oliver but for us as parents and his 4 older siblings. Oliver was born into an airline family. As such, it has afforded our family to fly free to many fun places (cheaper than Disneyland and the likes), and has allowed us better opportunities to keep in touch with family and friends. This has been especially hard on me because I have always worn my babies on my back and just gone out exploring with my children. Whether its hitting the museums, the parks, the beach or hiking I have always been a mama on the go. Life for us as we knew it has ground to a halt.We are still in the mourning stage.Mourning a loss of our yesterdays, mourning the loss for the things we know Oliver will miss out on and the many challenges he will face in his lifetime. Oliver is too young to know or to comprehend the difficulties that lie ahead but we as his parents can plainly see it now. I think that all the challenges that I have had with my own health and that of my other children, coupled with other life events has in some way prepared me for what lies ahead with Oliver and all the challenges it will bring. I think I owe a lot to my father in that I have the same spirit of not giving up, but instead picking myself up and fighting on no matter how tough the situation may be both physically and or mentally/emotionally.
We are tremendously grateful for our other children that have so selflessly embraced our new lifestyle.We are grateful for their awareness of Oliver and his needs. I am constantly amazed at how kids adapt so quickly to change. Our four-year old is already a protector of Oliver and knows that he cannot go outside unless it is sun safe or Oliver has all his gear on. I love my children, each and every one of them.
We are trying to concentrate on today. Taking things one day at a time and looking for the ‘can do’s’ instead of the ‘cannots’. We are grateful for the love, support and many prayers that we have received from our friends, family, church family, school family and community at large. Thank you for taking the time to read through my initial blog update. I hope to continue to update Oliver’s journey into his new normal and will also let you know more about TEAM OLiVER and our After Dark Glow-in-the-Dark parties and other events as they happen. Thank you for sharing in our journey.
Noelle, Thanks for sharing your story. I can’t wait to meet you at the conference. You will love visiting the NIH to meet the wonderful doctors and getting more answers. God bless you and your family!
It was great to meet your family! Anna is a doll! We are looking forward to our visit to NIH. The XPFSG conference was fantastic as well. We still have much to learn.