Rare and Amazing

I have been remiss in not posting on this blog in a few years and have had people ask what has been going on with Austin. I wrote this essay for Nevus Outreach recently and it sums up the past ten years of Austin's journey. If you would like to learn more about Nevus Outreach or support available for parents of children with NCM please see the sidebar. Thank you for reading.

Ten years ago our third son Austin was born. Everything about my pregnancy and his birth were completely normal and uneventful. He was born weighing 8 pounds and 8 ounces, with a beautiful round face, a dimple on his cheek, and five brown spots on his skin. The largest of these spots was six centimeters in diameter. This is an extremely rare way to be born. Most people who are reading this are aware that It is extremely rare to be born with a large melanocytic nevus. It is even more rare to be born with multiple nevi without a giant nevus. At the time I did not know any of this, and was told that these were just birthmarks, though larger than most, and just needed to be monitored by a dermatologist. I was not told, and I do not think the doctors at our local hospital knew, that people born with this rare presentation of birthmarks are at risk for developing severe complications.

Soon we noticed something unusual happening to Austin’s eyes. Sometimes his irises would seem to slip into his eye sockets and only the top of them were visible. It was very unsettling. I know now that this is called “sunsetting” because it looks like the iris sun setting behind the horizon. I also now know that this is a sign of hydrocephalus. In addition his forehead was developing an odd shape and seemed to bulge at the top. A visit to our pediatrician quickly determined that Austin had hydrocephalus. This resulted in an ambulance taking us to the hospital where an emergency surgery was done to place a tube called a ventriculoperitoneal shunt into Austin’s brain. This would be the first of four shunts he would have in his first ten years. Hydrocephalus is a rare condition that develops when cerebrospinal fluid in the brain is not draining properly. The shunt pulls the fluid that can’t be drained the usual way down into the abdominal cavity so it can be absorbed by the body. The pediatrician suggested that the hydrocephalus and the birthmarks could be related. We were stunned by this idea. It didn’t seem possible.

The shunt worked immediately. We could see his eyes again. A neurologist suggested that maybe the hydrocephalus was caused by a condition that he heard about at a conference called neurocutaneous melanosis (NCM) which means that pigmented lesions are present on the brain and spinal cord. After an MRI was performed it turned out that this was correct. NCM is a rare complication that is estimated to occur in 5-15% of people with large nevi. In most cases the lesions on the brain don’t cause any problems, just like nevi on the skin often don’t cause any issues. But in some cases they can prevent cerebrospinal fluid from draining properly and cause hydrocephalus. More commonly they can irritate the brain tissue and cause seizures to occur. Austin began to experience seizures around this time as well.

Because NCM is such a rare condition most doctors and hospitals, are unfamiliar with it. At this hospital they were convinced from the available medical articles that Austin’s prognosis was grim. We overheard a doctor stating it was “horrible,” and a nurse informed us that 90% of babies with this diagnosis die before they turn 3. The hospital staff gave us brochures about planning his funeral. However on a whim I did an internet search about NCM. I came across a group called Nevus Outreach that had an email support network. I sent out an email and immediately received several responses from people whose children had NCM, some with hydrocephalus, and they were still alive. I knew now although this condition can result in death, it was possible to survive and that gave us some hope.

Fortunately we were connected with the brain tumor team at Ann & Robert H. Lurie Children’s Hospital of Chicago. The specialists there have been our lifeline throughout the past ten years. They were familiar with this condition and although they agreed that the situation was dire, our neurosurgeon was reluctant to jump to conclusions. Austin required a second surgery to replace the shunt that was placed improperly and had a biopsy of his brain tissue to determine whether there was malignancy present. Unfortunately in some cases of NCM the cells can transform into leptomeningeal melanoma, a form of melanoma that originates in the covering of the brain. Austin’s biopsy was negative for malignancy. We were extremely relieved. The doctors agreed that this was likely to change over time, and that at some point the cells will transform and cause more problems. 

At home he received physical therapy because of a severe delay in development. After two years he mostly caught up in development and could walk. When he was nine months old he began to have seizures and had them until he was two, when they abruptly stopped. 

When Austin was 5, his shunt had to be replaced in his third brain surgery. The next year at age 6, Austin began to have seizures again. They continued despite trying several different medications. Anti-seizure medications can cause severe side effects. Austin was dealing with extreme mood issues from the medication, and despite all this the seizures still were not under control. From EEGs and MRIs it was determined that the seizures were coming from a lesion in the right temporal lobe. In 2016, he was evaluated by a neuropsychologist and it was determined that his memory was suffering due to the seizures. We began to consider the possibility of removing the lesion and therefore hopefully stopping or reducing the seizures. By the summer of 2017 he was having seizures daily and we decided to do the surgery. Austin has had the same neurosurgeon since he was one month old and we felt confident with him doing the surgery, although it was scary deciding to have part of his brain removed. The surgery and recovery were grueling. He continued to have seizures which was a major disappointment. In December of 2017 he was experiencing extreme headaches and nausea which led us to the conclusion that his third shunt was malfunctioning. He had another surgery to replace it. At this time his seizures have lessened and that is a relief. Austin has always been smart, hilarious and resilient. He has spent his whole life battling a condition that is essentially trying to stop his brain from working. In addition he has had to tolerate multiple medical procedures and take medicines meant to help him that cause him distress. It is hard for me to imagine what he is going through every day, to navigate pain and frustration that most adults have never had to manage. He is truly rare and amazing.

Kindergartener

Austin is now 6 1/2 years old and heading into the home stretch of his kindergarten year. He is doing great health wise and in school. We just celebrated the one year anniversary of his shunt which was replaced on February 1, 2013. He wasn't having any symptoms of shunt malfunction but an MRI showed that the tubing was pulling away from the ventricle in his brain and most likely would soon stop working. So the shunt revision was done as a preventative measure and it was a fairly routine procedure. He recovered from it well. We are in the process of scheduling his MRI for this year.  We're excited to announce our 3rd biannual Garage Sale & Bake Sale benefiting Nevus Outreach will be taking place on April 25 & 26. We will be selling all kinds of household goods, children's clothing and toys, appliances, furniture and electronics. This year we will again be featuring baked goods, as they were a huge hit last time. We hope that you will join us to support this great organization that has helped us so much over the past 6 1/2 years! If you cannot attend or would prefer to make a donation by credit card please visit our fundraising page at http://www.nevus.org/fundraiser-details_id657.php?fevent_id=213.  Thank you so much for reading!

Garage and Bake Sale benefiting Nevus Outreach

We are having a fundraiser to support Nevus Outreach's efforts to find a cure for NCM. It is going to be this weekend, Sept. 28 & 29 from 8-4 at 720 S. 6th Street in St. Charles. It is a multi-family sale and will be featuring lots of great toys, children's clothing, housewares and electronics. Plus this year we are adding a bake sale! We are so thankful for Austin's current health and want to do everything we can to help fund the research to find a cure. Austin is five now and doing well, but we are looking to the future and want him to live a long, healthy life. Too many beautiful children have been lost to NCM in those 5 years. We just want to help in any way we can! Please join us if you are in the area this weekend. We so appreciate all the support.

It is a coincidence but significant that this week is the 5 year anniversary of Austin getting the shunt that saved his life, when we first found out he had NCM. He is now 2 years older than we were told he would live. Research and knowledge about NCM has grown exponentially since then but a cure is still not available. We are so thankful that treatments for the symptoms, such as a shunt and seizure medication, have been developed to keep him alive. But there is always the possibility that the lesions can become malignant or begin to change or grow in ways that cannot be managed and that's why we need to find a cure.

Summer

Austin is doing fantastic right now. I should have come on the blog to report that a few months ago he took his very last dose of his anti-seizure medication! It was such a great milestone for him. Now he doesn't take any medicine regularly and that is a huge relief. He finished another year of preschool. He wants to be a rock star when he grows up, as well as a chef, a dad, and a pilot.  We decided to wait a year to send him to kindergarten as his birthday is August 24 and he's having a little trouble mastering some fine motor skills like writing. We hope to get some good practice in this summer and he will go to  5 day preschool in the fall. He is loving life and we are loving every minute of watching him grow.

September

Most of the year I don't think too much about Austin's medical issues. They don't affect our lives all that much on a daily basis and I suppose it's natural to try to put unpleasant things out of your mind. Even when I meet other parents of babies or children with large nevi and try to raise money and awareness I still don't think of Austin as having a serious condition that will be with him all of his life and could shorten his life. I'm pretty successful at this until it is time for his annual MRI of his brain and spine. I am ashamed to admit that this year I put it off as long as possible, partly because this time he required general anesthesia instead of what we usually do which is called IV sedation. He usually goes to an outpatient clinic where they hook him up with IV medication and he has the MRI there. It is not far from our home and we have gotten to know the people there over the years and feel somewhat comfortable there, as comfortable as you can be at a medical facility. But last year the anesthesiologist informed us that Austin woke up several times during the study and as a result he strongly recommended that we do not attempt an MRI with only sedation again, he should be put under a general anesthetic in order to get the best result and to prevent having to redo the MRI. I was very upset at the idea of putting him under and therefore procrastinated and did not have the MRI done until late July. On August 3 we went to see Dr. Tomita who once again informed us that there were no changes in the MRI, in the spots or with the hydrocephalus. Obviously great news, and it makes me feel ridiculous for the emotional turmoil I put myself through for the preceding several days. Even though I saw no signs of any ominous changes in Austin and I knew he had been doing great developmentally, just like every year I panicked right before the MRI. The what-if's take over my brain and memories and feelings from that September four years ago come rushing back. Too many children have been taken by NCM in the past 4 years and it's so hard to believe that Austin is still here with us and doing so well.

September is hydrocephalus awareness month. If I would have had any awareness of hydrocephalus 4 years ago I think I could've avoided some pain for Austin and possibly some of his early developmental delay (in gross motor skills). But all I can do now is hope that I can help someone else understand and help share what I know to help parents of children with NCM or hydrocephalus, or both. The only way I know to do this is to share Austin's story with everyone and hope that they understand hydrocephalus better, as well as the strange and rare condition that caused it so we can someday find a cure for both.

As a coincidence, September is also childhood cancer awareness month. Four years ago this week we were told that Austin had an extremely rare and incurable form of brain cancer called leptomeningeal melanoma. I'll never forget the day the oncologist used that term and I said "what's that? I thought they said he had neurocutaneous melanosis," and the look on his face when he told me that at this point we are hoping he *only* has neurocutaneous melanosis. Even though not many survive NCM with hydrocephalus, leptomeningeal melanoma is worse. And that night when he called me from the train after meeting with the tumor board, saying we should have a catheter implanted in Austin's chest for chemotherapy at the same time when his brain biopsy was performed, but he completely understood if we choose not to do chemo because at his age (one month) it would be terribly hard on his little body. In my mind he was saying he had no chance and that the humane thing to do was let him die peacefully. That seemed like the final blow to our hope after so many days of bad news and worse news and hospice nurses and chaplains and little booklets telling us how to arrange his funeral and doctors talking about him in the cafeteria like he was a lost cause. Thank God we also had a neurosurgeon who knew better than to jump to conclusions about anything and insisted we get the biopsy results before even discussing chemotherapy because as you all know he did not have cancer. And as soon as we got home from the hospital, especially after the shunt revision but even before we knew he didn't have cancer, he was such a different baby. Smiling, happy, interacting with people. I knew a baby who was dying would not be thriving the way he was. I always said we just want all the time we can get with him and all I ever asked God was please don't take my baby. Every year at this time I find myself saying it. I'm glad September is over.

After shunt revision

Home after first shunt

In the hospital in critical condition

Amazing 3 year old

It's hard to believe but Austin just turned 3! Besides just being amazed that my baby is starting preschool and 3 years have gone by, three years ago we were told that he had a 10% chance of living to be 3 years old. We celebrated his birthday with our fantastic group of family and friends. This is a video of Austin's friends singing Happy Birthday to him!

In July we were lucky enough to attend the 2010 Nevus Outreach Conference. This year it was again held in Dallas, TX. We spent several days visiting our dear friends in Austin (yes Austin is named in honor of the city of Austin!) and then came to Dallas to spend the rest of the week with our wonderful Nevus family. It was wonderful to return to the conference having 2 more years on this disease and a lot more hope and optimism. Of course we also enjoyed seeing all of the great people that we met 2 years ago again, and spending time with parents who truly understand our situation. We were extremely fortunate to hear from and have one on one consultations with some of the world's top experts on large nevi and NCM. I had the opportunity to sit in a small discussion over drinks one evening with several of the world's top experts on nevi and other parents dealing with NCM. Priceless. Genetic research currently being done in England sounds very exciting and groundbreaking. Many participants at the conference (parents & children) had their blood drawn in order to contribute to this research (though we didn't because Austin wouldn't comply). We have always been told that the condition is not hereditary but apparently new research is proving otherwise. Not that parents and children both have giant nevi or NCM, but that they may be passing down a gene that causes the condition in the right circumstances. The research is being done by Veronica Kinsler at Great Ormond Street Hospital in London. She even introduced the concept of "CMN syndrome"- the idea that our children having large/giant nevi is just one of a collection of symptoms that all fit together- for instance, that many (most) of them have similar facial features. Sounded crazy until she started putting pictures on the screen that really did look alike and guess what, really did look like Austin. Even more amazing, she said they may have identified the gene that causes this syndrome! There was an overwhelming feeling that day that a lot of earth shaking (at least to those in our world) information is coming down the pike very soon. It was extremely exciting to see and hear researchers and doctors from the US and Europe working together and discussing their research. They are going to have an international science conference next year for just the scientists/doctors in Germany. This is a first and such a huge step! We are so proud to be a part of Nevus Outreach and so amazed at all that has happened in the past 2 years. It is really something to see the kids at the conference 2 years later growing up and changing so much. I especially enjoy the teenagers, many of whom have many, many spots all over their faces and bodies. Beautiful girls and handsome guys who seem confident and happy and Austin is so privileged to have them as his role models as he grows up "spotted."

Today Austin started preschool. He was so excited, he's been asking for weeks when it will be his turn to go to school. He had no hesitation whatsoever about going into the classroom. On "Meet your Teachers" day he walked up to a group of kids and proudly showed them one of his favorite spots, the one on his left hand. Today as I pulled up to pick him up from school the whole class was walking back from the playground holding hands. I have to admit to a few tears, thinking this is my baby, the same one who was in that hospital bed clinging to life 3 years ago. I dared to hope for this, I admit, but to see it really happening in front of my eyes is the best. I'm so proud of him!

Austin's 2nd birthday!

I can't believe that my baby is turning 2 on August 24! We are so happy and thankful that we have made it this far! Of course we are planning to celebrate in a big way. Remember, we were given a small chance that Austin would live 2 years. We have no idea what the future holds but we are celebrating this moment right now! Last year in addition to having a great time at Austin's birthday party we raised over $2100 for Nevus Outreach to help find a cure for NCM. Nevus Outreach is currently funding a few very interesting research projects which we hope will help lead to a cure. This is the only organization we know of that is trying to find a cure for NCM. We are so grateful to our family and friends who have given to Nevus Outreach and very touched by the fact that others love Austin and want to help us find a cure. If you would like to commemorate Austin's birthday by donating online, please use the tool at the left under the heading "Donate to Nevus Outreach," or go directly to their website at www.nevus.org and click on "donate" at the top right corner. Additionally, donations can be made through our Cause, "Austin's Angels," on Facebook. If you would prefer to send a check the address is: Nevus Outreach, Inc., 600 SE Delaware Avenue, Suite 200, Bartlesville, OK 74003. Either way please clearly indicate that your donation is in honor of Austin King or Austin's Angels and the money will be used only for NCM research projects. Nevus Outreach is a 501 (c) (3) and your contributions are fully tax deductible. We are grateful beyond measure for your generosity!