The XPFSG Conference in Sacramento & Organ Donation

I know it’s been awhile since I have last posted. We’ve been busy with lots of doctor appointments and all four little ones came down with a nasty virus upon our return from Sacramento. After a few visits to urgent care and a couple of IV’s I think we are now on the up and up.

On November 8th our entire family journeyed to Sacramento to attend a XP Family Support Group Medical Conference and Firefly Kids Camp.  We were finally able to meet Michele Milota, Executive Director of the XP Family Support Group (XPFSG).  I already felt that I really knew her after speaking to her and emailing her countless times over the 6 weeks prior to our in person  meeting. Michele has truly been a lifeline for Albert and I.  We also had the opportunity to meet many children, young adults,  and adults afflicted with XP and their families as well. Prior to our trip my husband found a blog online about an adorable little girl named Anna, who has been diagnosed with XP-D.  You can follow her blog at http://www.annaliberty.wordpress.com. Oliver had the chance to meet Anna and play with her and the other kids for the weekend conference.

Our oldest Savannah, volunteered to help out with the kids camp.  That was such a blessing because Oliver has been exceptionally clingy these last two months.  My husband and I would have had to switch off attending the seminars so that we could care for Oliver if it hadn’t been for Savannah. I am grateful that we were able to attend the seminars together.  Some of the subjects were a bit heavy and I am glad that I was not alone. We had the opportunity to meet Debby Tamura (Dr. Kraemer’s nurse) from NIH. I felt like I already knew her so well after speaking to her on the phone for a couple of hours over the past several weeks.  We also got to hear different seminars from  James Cleaver,Ph.D and Eric Huang, MD,Ph.D both of the University of California, San Francisco as well as Dr. W. Clark Lambert.  They talked about the causes of DNA damage, the neuropathology of DNA damage, how to manage xeroderma pigmentosum and the research that has been done and continues to be done for XP. Of course our favorite talk was given by Dr. Bari Cunningham, one of Oliver’s dermatologists.  Our least favorite but necessary seminar was given by Debby Tamura.  Her seminar was titled, “The Ultimate Gift-Organ Donation for Research”. I have always been an organ donor since I turned 16 and had that pink dot placed on my driver license indicating so. It has always been my belief that I would only donate the necessary organs for live donors. That way in the event I pass through this life I maybe able to help someone else live a more full life. It had never occurred to my husband and I,that we would someday be sitting down in a room discussing the possibility of donating our own child’s organs, eyes, etc to aid in the research and future cure of xeroderma pigmentosum.  I don’t think that anything can ever prepare a parent for the possibility that they may outlive their own child. We have decided to send off  Oliver’s registration to the Brain and Tissue Bank for Developmental Disorders at the University of Maryland, Baltimore so that he can be a tissue donor IF he returns to his Heavenly Father sooner than expected. We still are waiting for his biopsy results. The results will tell us whether Oliver has a significant risk for having neurological abnormalities. It is our hope and prayers that Oliver will outlive us both and he will be able to live a long and fulfilled life here on earth. When Oliver is an adult he can choose to rescind the donation, but as his parents we want to be prepared in case that awful day arrives before we are ready. I encourage all of you reading this blog post to take a few moments to sit down with your loved ones and discuss whether or not you want to be an organ donor.  If you do choose to give the gift of life, please don’t wait. Please take the necessary steps to make your wishes  known to your loved ones as well as have the proper documentation done ahead of time. You just may make a difference in not one but several people’s lives.

Attending the conference was a bit emotionally draining but my husband and I both agree it was well worth all the effort it took to get 5 kids up there. We had the opportunity to meet all the men and women who called us in the first week of Oliver’s diagnosis and gave us a lot more promising information than what we had received from using Google search. They gave us hope that if we take the necessary precautions now, Oliver has a good chance at living a good life. We hope it’s long and fulfilled, however, there are never any guarantees. For today we live on hope. We are grateful for the friendships were we able to forge and for our new XP family that has so lovingly welcomed our entire family.

Tomorrow is Oliver’s big day. We head to Children’s Hospital Los Angeles early in the morning to meet with an ocular oncologist in regards to the lesion on Oliver’s right eye. We are hoping that it is just pre-cancerous and can be easily removed. I will post an update as soon as I can. Thank you for following our sweet Ollie’s blog.

By omaof5

After Dark Glow-in-the-Dark Party in the Park

Despite our travel-lag we had from returning from Sacramento the night before, we gathered together with our friends on Tuesday, November 13th for a night outside filled with hot chocolate, divine cookies, and all things that glow. We are thankful for our dear friend, Laura for organizing this outing with friends. We are indeed grateful for all those who showed up to offer their support. Some were old friends from our previous ward (congregation) and some were new friends that we had never met before. Laura also invited the Antelope Valley Press out to do a feature on Oliver. Look for his article to be in the Monday, November 26th edition. I didn’t realize the editor and photographer would be there so long so I apologize if I was not able to get to talk with each of you more.  We do appreciate all those that came out to play. We know how challenging it can be especially with the winter elements upon us. The weather was a bit milder that night and the children had a lot of fun running around with their light sabers, glow in the dark rings, bracelets and balls. It sure wore my kids out and they happily retired to bed on time. Thank you all for joining us in our nighttime play!

By omaof5

Blog Beginnings

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

By omaof5