Austin update

July 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!

Other families who need your prayers

Unfortunately there are other families who are also battling NCM. Here is one who really needs prayers right now: www.caringbridge.org/visit/rileymitchell. 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.

Beautiful article about Austin

My 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 http://www.uscatholic.org/life/2009/04/what-do-you-ask-child)

Hope and heartbreak

It'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....

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.

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!

Austin 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!

MRI results

Just 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!

Thanksgiving

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.

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.

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."

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.