tag:blogger.com,1999:blog-29158908478337149572024-02-20T12:07:22.456-06:00Everybody Loves AustinThis is the story of a boy named Austin who has a condition called neurocutaneous melanocytosis (NCM). He has a shunt in his brain due to hydrocephalus. He is a survivor and a fighter. This is also the story of his family and what it's like to live with a life threatening condition.We hope this blog will help people understand this condition. We also hope to use it to reach out to parents of other children who have NCM. You are not alone!JenKhttp://www.blogger.com/profile/00714788880231908646noreply@blogger.comBlogger21125tag:blogger.com,1999:blog-2915890847833714957.post-7242924919845481912018-03-13T10:43:00.000-05:002018-03-13T10:43:11.614-05:00Rare and AmazingI 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.<br />
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<span style="font-kerning: none;"><span class="Apple-tab-span" style="white-space: pre;"> </span>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.</span></div>
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<span style="font-kerning: none;"><span class="Apple-tab-span" style="white-space: pre;"> </span>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.<span class="Apple-tab-span" style="white-space: pre;"> </span>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.</span></div>
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<span style="font-kerning: none;"><span class="Apple-tab-span" style="white-space: pre;"> </span>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.</span></div>
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<span style="font-kerning: none;"><span class="Apple-tab-span" style="white-space: pre;"> </span>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.</span></div>
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<span style="font-kerning: none;"><span class="Apple-tab-span" style="white-space: pre;"> </span>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. </span></div>
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<span style="font-kerning: none;"><span class="Apple-tab-span" style="white-space: pre;"> </span>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. </span></div>
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<span style="font-kerning: none;"><span class="Apple-tab-span" style="white-space: pre;"> </span>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.</span></div>
JenKhttp://www.blogger.com/profile/00714788880231908646noreply@blogger.com0tag:blogger.com,1999:blog-2915890847833714957.post-47285551555916299692014-04-02T13:02:00.000-05:002014-04-02T13:02:05.588-05:00KindergartenerAustin 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 <span class="Apple-style-span" style="color: #333333; font-family: helvetica, arial, sans-serif;"><a href="http://www.nevus.org/fundraiser-details_id657.php?fevent_id=213" title="View your fundraiser page">http://www.nevus.org/fundraiser-details_id657.php?fevent_id=213</a>. Thank you so much for reading!</span>JenKhttp://www.blogger.com/profile/00714788880231908646noreply@blogger.com0tag:blogger.com,1999:blog-2915890847833714957.post-4631016275452468382012-09-23T09:36:00.000-05:002012-09-23T17:40:21.189-05:00Garage and Bake Sale benefiting Nevus OutreachWe 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.<br />
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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.JenKhttp://www.blogger.com/profile/00714788880231908646noreply@blogger.com0tag:blogger.com,1999:blog-2915890847833714957.post-75224751341411098432012-06-16T18:37:00.003-05:002012-06-16T18:37:48.892-05:00SummerAustin 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.JenKhttp://www.blogger.com/profile/00714788880231908646noreply@blogger.com0tag:blogger.com,1999:blog-2915890847833714957.post-4582263967360300092011-09-26T13:27:00.002-05:002018-01-24T10:45:57.720-06:00September<div style="text-align: center;">
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. </div>
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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.</div>
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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.</div>
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After shunt revision</div>
<a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEiRY9AGinQEs9DQVaUExu1WnZB9FZTJ3vGhyFWPzyiqgNtEYcqg51jNzMZbYXJVxOFwIozTdsOY6jOhgbzjQ2PtcJYZuw90sRxj1v9FqTiMbmGTzNezU8qnUNaQQIbSxCl0aaaG9tT2FkKL/s1600/DSC01403.JPG" onblur="try {parent.deselectBloggerImageGracefully();} catch(e) {}"><img alt="" border="0" id="BLOGGER_PHOTO_ID_5657045939587560690" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEiRY9AGinQEs9DQVaUExu1WnZB9FZTJ3vGhyFWPzyiqgNtEYcqg51jNzMZbYXJVxOFwIozTdsOY6jOhgbzjQ2PtcJYZuw90sRxj1v9FqTiMbmGTzNezU8qnUNaQQIbSxCl0aaaG9tT2FkKL/s320/DSC01403.JPG" style="cursor: hand; cursor: pointer; display: block; height: 240px; margin: 0px auto 10px; text-align: center; width: 320px;" /></a><br />
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Home after first shunt</div>
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In the hospital in critical condition</div>
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JenKhttp://www.blogger.com/profile/00714788880231908646noreply@blogger.com0tag:blogger.com,1999:blog-2915890847833714957.post-80004989267062368752010-09-06T16:26:00.007-05:002010-11-21T18:53:10.415-06:00Amazing 3 year oldIt'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!<div><br /></div><div><iframe allowfullscreen='allowfullscreen' webkitallowfullscreen='webkitallowfullscreen' mozallowfullscreen='mozallowfullscreen' width='320' height='266' src='https://www.blogger.com/video.g?token=AD6v5dybNKOP2LjDWNtHiZ0HheFIyykwyEqo5SczAbvHdxRr6OcqZ7EnbL2OsnEm-BTKuC2KWohdDKekZWJqYwOHmQ' class='b-hbp-video b-uploaded' frameborder='0'></iframe><div><div><br /></div><div><br /></div><div>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."</div></div><div><br /></div><div>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!</div><div><br /></div><div><br /></div></div>JenKhttp://www.blogger.com/profile/00714788880231908646noreply@blogger.com1tag:blogger.com,1999:blog-2915890847833714957.post-22017501935901781992009-08-07T12:47:00.004-05:002009-08-07T19:30:39.002-05:00Austin'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!JenKhttp://www.blogger.com/profile/00714788880231908646noreply@blogger.com3tag:blogger.com,1999:blog-2915890847833714957.post-68134357664565605102009-07-17T17:43:00.002-05:002009-07-17T17:58:20.464-05:00Austin updateJuly is a very busy month for Austin. He has appointments with all of his specialists in addition to his MRI and was evaluated by both physical and speech therapists. He has been receiving physical therapy for 18 months, weekly for the past year, and this week his therapist discharged him because he no longer needs therapy! He was considered 58% delayed in gross motor skills as of December 2008, and now is only 18% delayed. In December he wasn't even crawling, and now he is almost running so he has come a long way. The speech evaluation determined that he is only delayed 2 months in language expression (speaking) and is actually testing at 4 months above his age for understanding language. So he is not going to be receiving any therapy for the time being, unless he has some kind of setback in the future. He had an MRI of the brain and spine on July 14. This is a 3 hour long procedure under anesthesia but he came through it with no problems. On July 15 we saw his neurosurgeon, Dr. Tomita who did not recognize him at first because he looks like such a big kid now, walking all over the halls of the Brain Tumor Center. He gave us the results of the MRI, no changes were seen in the brain lesions and this is fantastic news (the only better news would be that they are gone all together). He doesn't have to have another MRI for 9 months. Today he saw the eye doctor who also has no concerns about his eyes. Next week we will see his dermatologist and the following week his new neurologist. Austin is having a great summer playing with his big brothers and spending a lot of time in the sandbox. He is the friendliest little boy I've ever seen and so darn cute! We are so excited about his 2nd birthday coming up next month and can't wait to host another celebration of his life. We got to spend another year in the company of this amazing little boy, watching him grow and getting the chance to hold him and love him whenever we want. Knowing other families would give anything to have their children in their arms again makes me realize that every day should be celebrated and we are so thankful for Austin!JenKhttp://www.blogger.com/profile/00714788880231908646noreply@blogger.com0tag:blogger.com,1999:blog-2915890847833714957.post-40686699361366531162009-06-02T19:53:00.002-05:002009-06-02T20:01:38.992-05:00Other families who need your prayersUnfortunately there are other families who are also battling NCM. Here is one who really needs prayers right now: <a href="http://www.caringbridge.org/visit/rileymitchell">www.caringbridge.org/visit/rileymitchell</a>. Riley is an 8 year old who is currently fighting progressing NCM. I have recently been in contact with 2 other families who have recently lost children to NCM, the families of Cooper and Gabriella. It is heartbreaking that our children are suffering from and dying of NCM and the families are being told there is nothing anyone can do. Why not? I am dedicated to finding a cure for this condition and bringing all of the families touched by NCM who wish to participate together to share information in the hopes of finding a cure. If you are reading this and you are interested in being a part of this effort leave a comment and let me know how to contact you.JenKhttp://www.blogger.com/profile/00714788880231908646noreply@blogger.com0tag:blogger.com,1999:blog-2915890847833714957.post-28707978303026710272009-06-02T19:41:00.006-05:002009-06-02T19:48:42.386-05:00Beautiful article about AustinMy mom wrote this article for US Catholic. It's about the day we found out Austin had hydrocephalus and decided to baptize him right there in the hospital room, and the tough weeks that followed. Hope you enjoy it. (click on the title of this post or <a href="http://www.uscatholic.org/life/2009/04/what-do-you-ask-child">http://www.uscatholic.org/life/2009/04/what-do-you-ask-child</a>)JenKhttp://www.blogger.com/profile/00714788880231908646noreply@blogger.com0tag:blogger.com,1999:blog-2915890847833714957.post-34564718176236084632009-04-26T15:58:00.002-05:002009-04-26T16:46:43.603-05:00Hope and heartbreakIt's already the end of April! The good weather is here and in Illinois that means lifting the depressing veil that has been hanging over us for months. Austin has been fighting a cold all winter and had 5 ear infections. He had tubes placed in his ears on April 3. His ears have been fine since but the cold remains. We took him to the allergist and she recommended a battery of tests to find out if he is allergic to something that is causing the symptoms. We are awaiting the results. Otherwise Austin has been doing great with no serious concerns. We even heard some promising news about a possible potential weapon in the fight against NCM. It happens that vitiligo, a skin disorder that takes away pigment in the skin, is actually more common among people with nevi (like Austin's birthmarks) than in the general population. It seems to be an immune response in the body *against* the nevi- a "halo" forms around the nevi and they slowly begin to disappear. A child with nevi and vitiligo who also has NCM recently had an MRI of her brain done, and the NCM seems to be disappearing. This could mean that if- somehow- vitiligo could be induced in people with NCM, maybe, possibly it could lead to a cure. Sounds exciting. There are actually some drugs with the documented side effect of vitiligo. Could there be a way to induce vitiligo without causing other damage? Maybe....<br /><br />Unfortunately as this exciting news comes, we also receive sad news. A baby the same age as Austin died last month of NCM related complications. A boy of 9 years who developed hydrocephalus as a result of his NCM within the last year died of leptomeningeal melanoma. An 8 year old boy named Riley, a first grader like Aidan, just found out that he may have leptomeningeal melanoma as well. You may remember this is what they call it when the pigment cells in the brain turn into cancer. The reason you may remember it is that the doctors thought this is what Austin had all those months ago. At this time there is no reliable treatment (although there is an experimental one) and certainly no cure for this type of cancer. It is extremely rare and the survival rate is extremely poor. It seems to be the main reason that people with NCM who develop hydrocephalus (like Austin did) are told the chance of surviving 2 years is about 30%. We are closing in on the 2 year mark since Austin's diagnosis and I will admit that I am terrified. All of this bad news is finally beginning to sink in (and imagine what it is like for those families). For all this time we have done a pretty good job of staying in the present and are praying for the strength to continue on that path. <br /><br />All of this news has made me consider what to do next. I feel an urgent need to do something more and we are considering some major fundraising ventures for the short and long term future. We greatly appreciate any input and ideas, and of course, your support and prayers mean everything to us. Of course the main thing we plan to do is enjoy Austin, Liam and Aidan and appreciate each day as it comes!JenKhttp://www.blogger.com/profile/00714788880231908646noreply@blogger.com1tag:blogger.com,1999:blog-2915890847833714957.post-41966827665425523322009-03-05T14:13:00.002-06:002009-03-05T14:23:01.524-06:00Austin is walking!Just wanted everyone to know that! Also we had him evaluated for speech and he does not need speech therapy. He was determined to be age appropriate for understanding language and just a few months delayed in speaking, but not enough of a delay to warrant therapy. Also his occupational therapist discharged him, saying he does not need OT anymore so we are happy to be down to just physical therapy now! The only negative right now is that he has had several ear infections in the past few months, and currently one that appears to be antibiotic resistant, so we are going to be taking him to an ear specialist to discuss placing tubes in his ears. Hopefully with the warmer weather we just won't catch as many viruses either. We are so sick of going to the pediatrician's office!JenKhttp://www.blogger.com/profile/00714788880231908646noreply@blogger.com0tag:blogger.com,1999:blog-2915890847833714957.post-1132762480876224152009-01-22T13:19:00.002-06:002009-01-22T13:29:06.901-06:00MRI resultsJust wanted to update that Austin had an MRI of the brain on January 13. It showed no changes, which is good news. He does not have to have another MRI until July. We obtained a copy of the MRI and sent it on to Nevus Outreach, through a new program they are now able to have MRI's read by the pediatric radiologist at UC-San Francisco who is the worldwide expert in reading and performing MRI's to detect NCM. The best part is they have a grant to pay for this so it is at no cost to us. We are very happy to have this opportunity. Austin also saw his neurologist, Dr. Keating on the 14th. Of course, after praising her so effusively in my last post she is now leaving Children's Memorial for Minnesota! So we will have to figure out what to do next on that front. Her opinion on Austin's development is that he is catching up quickly on gross motor skills and is not behind at all in cognitive or fine motor skills. In fact she thought his fine motor skills (using his fingers) were excellent. At almost 17 months old Austin has taken a few steps and is standing alone briefly. He walks holding onto furniture and can climb the stairs all the way to the top. He has been crawling on all fours for about a month and is very fast! He is not saying many words yet, though has a few animal sounds. I have asked for a speech evaluation and have been told that it is being arranged. We are so happy with all of his progress!JenKhttp://www.blogger.com/profile/00714788880231908646noreply@blogger.com0tag:blogger.com,1999:blog-2915890847833714957.post-31754062192636399322008-12-15T15:13:00.003-06:002008-12-15T15:44:58.461-06:00Thanksgiving<a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEhfvKMBP02Sw2wAYCEza-ejB-dEVceawh_kQRvVK_AQxH9XIA73stotZwFrA1LHXGGeYoNBUCDLfVznAix-iXF2V_VTb5dpCvx5zN7s6WrqZSW24GU1xwdSSf6y5oUGu8uyTGSLJL0jPMNi/s1600-h/December+2008+021.jpg"><img id="BLOGGER_PHOTO_ID_5280136096006029778" style="DISPLAY: block; MARGIN: 0px auto 10px; WIDTH: 320px; CURSOR: hand; HEIGHT: 240px; TEXT-ALIGN: center" alt="" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEhfvKMBP02Sw2wAYCEza-ejB-dEVceawh_kQRvVK_AQxH9XIA73stotZwFrA1LHXGGeYoNBUCDLfVznAix-iXF2V_VTb5dpCvx5zN7s6WrqZSW24GU1xwdSSf6y5oUGu8uyTGSLJL0jPMNi/s320/December+2008+021.jpg" border="0" /></a><br /><div>True, the actual holiday of Thanksgiving was last month and I am very late with this post. But I did want to take a moment to take stock of the many blessings of the past year. One year ago I was not sure if we were going to get the chance to celebrate another holiday season with Austin. Since then many positive things have happened for Austin. He had seizures for a few months that were very concerning, but soon dissipated. One of our great blessings has been Austin's neurologist, Dr. Keating at Children's Memorial. She and her nurse Emily have been so helpful and approachable. She is really unlike any other doctor we have ever known and we are so lucky to have her as a part of Austin's team. We were fortunate that a Nevus Outreach conference was held this year and we were able to attend. I thank God that we are living in the age of the internet and have been able to connect with other people with Austin's condition through Nevus Outreach. I have thought many times how much more difficult this would have been years ago, and my heart breaks for parents who were faced with a rare diagnosis in the pre-internet age. Austin is catching up in motor development. He is now crawling and pulling up to stand on his own. His cognitive and fine motor skills are age appropriate. I can't begin to describe how wonderful this is to see.<br /><br />I am so thankful for our many wonderful friends and family who have supported us in so many ways this past year. I am thankful for the opportunity to celebrate each day and realize that each one is precious. I always thought I was living this way, but I found out last year that I wasn't. I spent so much time worrying about things that I now realize are not important. It has given me perspective I never had before.<br /><br />The other morning, Aidan and I went into Austin's room to get him up and dressed. He was standing up in the crib and babbling to us in such a way that I am sure he thought he was chatting with us. I told Aidan, it won't be long before he is actually talking and we will be able to understand. Aidan said, "Mom, I don't really care if he talks or not. I am just so happy that he is here with us."<br /><br />Every night before I go to bed I quietly sneak into Austin's room and listen for his breathing. As soon as I hear it, a huge wave of relief comes over me and I thank God for one more day.</div><br /><div></div><br /><div></div>JenKhttp://www.blogger.com/profile/00714788880231908646noreply@blogger.com0tag:blogger.com,1999:blog-2915890847833714957.post-60419744355021699182008-09-24T20:05:00.002-05:002008-09-24T20:08:06.144-05:00We raised $2177 for Nevus Outreach!!Thank you, thank you, THANK YOU to all of you for your generosity! We truly believe that every dollar we raise brings us closer to a cure for neurocutaneous melanocytosis. There are scientists working on it right now with mice who have NCM (I know it sounds bizarre but it is really happening!) and human testing is scheduled to begin in 2009. We are ever hopeful!JenKhttp://www.blogger.com/profile/00714788880231908646noreply@blogger.com0tag:blogger.com,1999:blog-2915890847833714957.post-19068559017508688522008-08-26T15:47:00.004-05:002008-08-26T16:01:27.711-05:00Austin is one year old!<a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEgjIJFy7rw_2ui6CB5XvGP3vwgOfpGm5z-nrU9xwBfrTl2N5AKI4q3OMjzjMnUBHsDfclbP3c-X77WF5vZqTeEfiTdtekjm1tOulsfLWZ8JvtSyt9kSFeu3WtpY2dF4Y-mUEBdhNhYFQd1o/s1600-h/August+2008+060.jpg"><img id="BLOGGER_PHOTO_ID_5238934354336003906" style="DISPLAY: block; MARGIN: 0px auto 10px; CURSOR: hand; TEXT-ALIGN: center" alt="" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEgjIJFy7rw_2ui6CB5XvGP3vwgOfpGm5z-nrU9xwBfrTl2N5AKI4q3OMjzjMnUBHsDfclbP3c-X77WF5vZqTeEfiTdtekjm1tOulsfLWZ8JvtSyt9kSFeu3WtpY2dF4Y-mUEBdhNhYFQd1o/s320/August+2008+060.jpg" border="0" /></a><br /><div><div></div><div></div><div>Austin turned one year old on August 24! We are thrilled to report that he had a fun and love-filled birthday. We celebrated with 77 of our friends and family members in our backyard and had a wonderful time. Austin got to try his first piece of cake and he loved it, but mostly he enjoyed spending time with all of his favorite people. We spent 11 months thinking about and planning for this party. When I said that we promised him a big party at his bedside in the hospital last September I was not trying to be dramatic. At that time, we were not given a lot of reason to hope that Austin would be here with us to see his first birthday. So when we made that promise it was a way for us to hold on to something positive in the future. But in my heart I always knew we'd have this party and celebrate this wonderful day with all of the people that supported us and helped us through that horrible time. And here he is, Mr. One Year Old, doing so great and right now making his way across the dining room floor to get into his brothers' toys. (So far he is rolling across the floor, not quite crawling yet, but getting around just the same!) Thank you from the bottom of our hearts to all who came to the party or made a donation and marked this occasion with us. I guess to some a baby's first birthday party is not that big of a deal but to us this was one of the most important days of our lives. Hope to see you all at his 2nd birthday party next year!</div></div>JenKhttp://www.blogger.com/profile/00714788880231908646noreply@blogger.com2tag:blogger.com,1999:blog-2915890847833714957.post-69803733613137509112008-07-23T10:42:00.004-05:002008-07-30T08:42:48.071-05:00How to donate to Nevus Outreach (and help find a cure for NCM)Austin is turning 1 year old on August 24! For this occasion, we are trying to raise as much money as possible to find a cure for neurocutaneous melanocytosis. Although this is a very rare condition, there is an organization that is committed to providing support for people with NCM and large nevi, promoting awareness and finding a cure. Nevus Outreach, Inc. has been a great source of support and information to us in the past months and we are committed to this cause. If you would like to learn more, please visit the website at <a href="http://www.nevus.org/">http://www.nevus.org/</a>. If you would like to make a donation, go to <a href="http://www.nevus.org/">http://www.nevus.org/</a> and click "donate" in the upper right hand corner. Please indicate that your donation is in honor of Austin's birthday so Nevus Outreach can total up the amount we have raised as a group. If you feel more comfortable donating by check, please use the donation form on the back of the Nevus Outreach brochure. (If you need one please let me know). Additionally, after his birthday everyone who makes a donation will be able to access a special "after party" area of the nevus.org website that will contain pictures, video and other content from the birthday party, plus update you on the total amount we have raised as a group.JenKhttp://www.blogger.com/profile/00714788880231908646noreply@blogger.com1tag:blogger.com,1999:blog-2915890847833714957.post-60957802233112253802008-07-18T16:56:00.006-05:002008-11-13T05:56:11.939-06:00Pictures from the conference<a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEg6rnhaNS5TkIb96n2klo8gaB0TtLhdBmCS3Lo8hXDjKQcPGmZwfdSvQrYWvhXJ91XAV4ss6w3kh-li763I-Ys-f1K9NQGlKxBp9TMbpoLhXZYbykk0mippngBOOxeL-NZ6-I0-uuqVu0da/s1600-h/IMG_0090.JPG"><img id="BLOGGER_PHOTO_ID_5224477988313487074" style="DISPLAY: block; MARGIN: 0px auto 10px; CURSOR: hand; TEXT-ALIGN: center" alt="" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEg6rnhaNS5TkIb96n2klo8gaB0TtLhdBmCS3Lo8hXDjKQcPGmZwfdSvQrYWvhXJ91XAV4ss6w3kh-li763I-Ys-f1K9NQGlKxBp9TMbpoLhXZYbykk0mippngBOOxeL-NZ6-I0-uuqVu0da/s320/IMG_0090.JPG" border="0" /></a> Austin thought the hotel was pretty awesome<br /><br /><div><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEh_3LB99sxT25cCXoFGfrtRZLNXx6p5gFnlp2CkuZDT4arIV7alHVb-sg2yQWY_Ir6ouDdgkPx35U7mlf7EtVsJgKVsSPPYkB8jxYK7ebzRL986nTeBzYjVnQVRjV09dH4sbcrKB3D4-Zc6/s1600-h/IMG_0079.JPG"><img id="BLOGGER_PHOTO_ID_5224477813921934034" style="DISPLAY: block; MARGIN: 0px auto 10px; CURSOR: hand; TEXT-ALIGN: center" alt="" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEh_3LB99sxT25cCXoFGfrtRZLNXx6p5gFnlp2CkuZDT4arIV7alHVb-sg2yQWY_Ir6ouDdgkPx35U7mlf7EtVsJgKVsSPPYkB8jxYK7ebzRL986nTeBzYjVnQVRjV09dH4sbcrKB3D4-Zc6/s320/IMG_0079.JPG" border="0" /></a> Aidan & Liam dancing at the anniversary party<br /><br /><div><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEhQUmU52lM7VT45EtSyuEXsr3ejSk5D8wuHMh5lCwcrbI06iMCGuvRwKdUCp0G5tBVG3Z2ymP5F3V6V-u1sIERKzV03bhFw6dG6RasNmRYSZoTjV3idDUh5zXSzDphcLEnFZiH3qC3tYJTH/s1600-h/IMG_0074.JPG"><img id="BLOGGER_PHOTO_ID_5224477516132025890" style="DISPLAY: block; MARGIN: 0px auto 10px; CURSOR: hand; TEXT-ALIGN: center" alt="" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEhQUmU52lM7VT45EtSyuEXsr3ejSk5D8wuHMh5lCwcrbI06iMCGuvRwKdUCp0G5tBVG3Z2ymP5F3V6V-u1sIERKzV03bhFw6dG6RasNmRYSZoTjV3idDUh5zXSzDphcLEnFZiH3qC3tYJTH/s320/IMG_0074.JPG" border="0" /></a> Family picture<br /><br /><br /><div><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjAfMV9xZGhU3em08Y5PwitP68GPRPIY2GWOBz1Aywp0Kimkx1uPnBs8ZpP63CodsP2b-IZcwrxwZiOT_bZ2e5nJBh3AqRpdqSrLk4yb-tPi9L3aML2KPF2Zq3c0PHd4enNwkGLe7zBcSr3/s1600-h/IMG_0070.JPG"><img id="BLOGGER_PHOTO_ID_5224476730431074946" style="DISPLAY: block; MARGIN: 0px auto 10px; CURSOR: hand; TEXT-ALIGN: center" alt="" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjAfMV9xZGhU3em08Y5PwitP68GPRPIY2GWOBz1Aywp0Kimkx1uPnBs8ZpP63CodsP2b-IZcwrxwZiOT_bZ2e5nJBh3AqRpdqSrLk4yb-tPi9L3aML2KPF2Zq3c0PHd4enNwkGLe7zBcSr3/s320/IMG_0070.JPG" border="0" /></a> Aidan & Austin at dinner<br /><br /><br /><br /><div></div></div></div></div>JenKhttp://www.blogger.com/profile/00714788880231908646noreply@blogger.com1tag:blogger.com,1999:blog-2915890847833714957.post-28243905017688291602008-07-17T16:22:00.002-05:002008-07-17T16:25:42.349-05:00Austin's MRIJust to update everyone, Austin had an MRI on Tuesday July 15 and we went to see Dr. Tomita, his neurosurgeon, at Children's Memorial yesterday to get the results. The news is good. There are no changes since February's MRI. Also a cyst in the brain stem area that we have been watching is getting smaller. The only better news would have been "all the spots are gone" so we are pretty happy!JenKhttp://www.blogger.com/profile/00714788880231908646noreply@blogger.com1tag:blogger.com,1999:blog-2915890847833714957.post-18051830154355552022008-07-16T09:51:00.002-05:002008-07-16T10:22:01.165-05:00We're back!We had a very emotional and exhausting week but we are now back from the Nevus Outreach conference in Dallas. We spent three days hearing medical experts speak on congenital nevi (birthmarks like Austin's) and meeting so many wonderful people affected by this condition. We met adults with large birthmarks as well as babies like Austin. Time and again we heard the stories of babies being born with large birthmarks and parents being told that they would not live to be 2 years old, even babies who had no evidence of central nervous system involvement (neurocutaneous melanocytosis- NCM-unfortunately this <em>is </em>what Austin has). Although we did not hear the good news we were hoping for, such as a new treatment or a new study about kids like Austin, that made us only more committed to working together with other families like ours to make our dreams of a cure for NCM a reality. This of course goes along with our other goals of raising awareness generally about NCM, especially in the medical community, and providing more support and information for families affected by NCM and large congenital nevi. One thing we realized is that the extremely small amount of information on the condition is a main limitation. Nevus Outreach is growing very quickly in terms of people affected by large nevi, they had double the amount of people at the conference this year than in 2006, and they are trying valiantly to keep up in terms of resources. We have made a commitment to support this organization and we feel that the support they provide for families is just fantastic and life changing. However, there is a long way to go to achieve our goals. We felt a little discouraged at times because we are dealing with such a time sensitive problem, Austin's health is excellent right now and we pray every day that this remains the case. But the depressing statistics don't give us a lot to hang our hats on as far as an evidence-based reason to hope. But, you all know us, and we are NEVER giving up!! After feeling very discouraged for an hour or two we thought of it as, all these babies born with large nevi were told they weren't going to live- and look at them now as successful, absolutely lovely adults. Why can't the statistics be wrong about Austin too? Then we went back downstairs and met more awesome people and decided that we are going to do everything and anything we can to help achieve these goals. The sad truth is that there is no one out there that's going to do it for us.<br /><br />Austin had a routine MRI for follow up on July 15. We are going to see Dr. Tomita at Children's Memorial today to get the results. Just praying that there are no changes (or only good ones). I'll update when I have the information.JenKhttp://www.blogger.com/profile/00714788880231908646noreply@blogger.com1tag:blogger.com,1999:blog-2915890847833714957.post-73920230004935714442008-07-03T11:16:00.003-05:002008-07-07T10:32:13.058-05:00Austin's New BlogHello to everyone and welcome to Austin's new blog. We are moving on from the CarePage to give a little more flexibility and because it will hopefully be easier to access and keep up with this format. The big news right now is that we are getting ready to go to Dallas to attend the 2008 Nevus Outreach Conference. We are very excited to meet all of the people from Nevus Outreach who have been such a support system for us in the past 9 months (and to be back in Texas though we won't be able to make it down to Austin as we had hoped). Also we will get to hear from the top experts on the subject of congenital nevi and NCM. Austin is going to meet with a neurologist from Sloan Kettering Memorial Cancer Center as well.<br /><br />In other news, I am knocking on wood as I say this, Austin has not had a seizure since late April. We are quite relieved about this! On the not so good side we have discovered in the past month that he is allergic both to dairy products and amoxicillin.<br /><br />He is really starting to try to move around, rolling over and sitting up much better than before. He is moving to weekly physical therapy and twice monthly developmental therapy (although he was determined to be age appropriate developmentally, they want to keep an eye on it). He is starting to communicate with us too by waving hi & bye and signing for more when he is eating. He is so cute and cuddly.<br /><br />We are getting excited about celebrating his first birthday with a huge party, just like we promised him back in September 2007 when he was in the hospital! We will let everyone know the details soon. In the meantime, we are preparing for our trip and plan to have lots of great stories and pictures to share when we return.<br /><br />For more information on Nevus Outreach and the conference, go to <a href="http://www.nevus.org/">www.nevus.org</a>.JenKhttp://www.blogger.com/profile/00714788880231908646noreply@blogger.com2