Friday, August 28, 2015


This is a mom that I have recently been connected with through a national organization called Parent to Parent. Her son has the same thing that our son has. We spent a lot of time on the phone chatting about life with our boys. She recently shared her experience with Parent to Parent and has given me permission to share her story too.
Possibilities- By Alison Kandrovy

Imagine a world of possibilities. You are pregnant with your first child. So much to be excited about, to think about, and to plan. Your entire life is about to change but you couldn’t be more ready. You experience a pregnancy that is about as typical as a 7 day work week and you have no health issues whatsoever other than the occasional heart burn. At your baby shower, you are overwhelmed with all of the gifts for your new arrival and the anticipation and excitement is just an added experience to what is supposed to be the happiest time of your life. A new baby to love. Someone who will need you and love you unconditionally. Someone who will count on you. You try to prepare to be the best that you can be as you know you are going to be shaping your child’s life. 

As you dream about that wonderful world of possibilities – first steps, first words, building sand castles on the beach, first days of school, childhood activities, and making wonderful memories – nobody tells you about what could go wrong. 

When I was eight months into my pregnancy, I had a typical ultrasound done, no apparent reason, just as a policy with my OB’s office. During that ultrasound, the technician saw that the baby’s brain did not develop and we were told by the OB that our baby boy would be born “not compatible with human life.” No warning. No signs of anything ever being wrong. And in one quick second, our entire world changed. Through our complete and utter horror and devastation, we visited a high risk OB the very next day with intentions to terminate this pregnancy but instead we were told that our baby had hydrocephalus and that he would survive. During the next few weeks, we visited The Children’s Hospital of Philadelphia and were told one thing and then another. First that our child would have learning disabilities. Then that he would be perfectly and normally fine. Our beautiful baby boy was born three weeks later and although he had surgery at 4 days old and experienced a roller coaster of ups and downs, he seemed to be pulling through. We finally thought we saw light at the end of the tunnel. Then our worst fears were brought to light after 26 days at CHOP with our child in the NICU. He had the rarest form of hydrocephalus called X Linked Hydrocephalus, he would be a vegetable, and live maybe 1-2 years. Four days later, we went home and instead of experiencing joy and excitement, we had nothing except pain and no hope of a future. We had no choice but to prepare for the worst. 

That world of possibilities was a complete and utter memory. I couldn’t remember what happiness even felt like for months afterwards and I used to wish more than anything that it would all end. For a long time I didn’t leave the house. I didn’t talk to any of my friends, especially those who had just had babies of their own. I wanted nothing to do with other people’s happiness and I didn’t want to hear about what milestones their “perfect babies” were reaching. The only people who visited us were people from the hospice service that we were set up with. They were the only ones I wanted to talk to. Otherwise, my routine was watching my husband go off to work and then sit in my baby’s nursery and cry for the entire day. The worst part of the entire situation was probably the fact that I felt like I had failed my child by not realizing I was a carrier of the condition that he had and that not one single person in this entire world could ever understand how I felt. This type of thing didn’t happen to anyone else. 

Who else brought their baby home with hospice nurses and social workers there to greet you to try and make the pain of watching your child die over the next few years as easy as possible? Who else brought a baby home anticipating that no matter what you did for them, it wasn’t going to make a difference because at some point, this would all be over? To say I was angry was an understatement. I was robbed and defeated. I wanted to take my baby’s place and have him spared. I wanted someone to call from CHOP and tell me that they had been mistaken or that they got his medical records mixed up with someone else’s. Who could I talk to? Who could I turn to? I had plenty of support. But nobody who really knew what I was going through. Nobody who knew what it felt like. And with all the support I did have through family, friends, and hospice…I had never felt so alone in my life. 
Then one day I was told about Parent to Parent of PA support system. I was wary of support groups. I had gone to a post-partum support group for two sessions and could not relate to a single woman there. They had been depressed yet they had perfectly normal children. I couldn’t relate to what they were even depressed about. Maybe my story had made them actually feel better. There wasn’t much I got out of those types of groups. However it had been many months later, our baby boy was doing a lot better after a second surgery and had a better prognosis, and I was in a better place myself. So I decided it couldn’t hurt to give it one more try. I still didn’t know who would ever be able to relate to me though. This condition is so rare, who else would even have this problem? 

It turns out some other moms were out there whose child did have the exact condition as Riley! The coordinator of Parent to Parent of PA, Michele, found a match for me and I spent two hours on the phone one night talking to this mother. This mom hooked me up with another mom whose son had the same condition and her son particularly was much like my own – more on the moderate side. It is almost two months later and I am still in touch with both of these moms. Through this experience, I even learned a few things that nobody ever told us. This condition, like every other, is a spectrum. Some have it very severe and others have it moderate. Some walk and talk while others are non-verbal. Some pass away at a young age while others are older. When I realized what other moms had been through, I realized just how lucky our baby boy really was. So far he has defied a lot of odds against him. He showed all of the neurologists that told us he was going to be a vegetable that he was going to do what he wanted to do and nobody was going to tell him otherwise. I cannot tell you how wonderful it has been to be in touch with other moms who know exactly how I have felt. Even just to know that I wasn’t crazy! And to know that there really are others out there with their “one in a million children” who are the trail blazers and the warriors who will do anything in this world to ensure that their child has the best quality of life possible. These moms are heroes and warriors. I cannot say enough wonderful things about Parent to Parent of PA. They were diligent and consistent about sending me matches and truly wanted to reach out and help. They have hooked me up with moms I never would have met otherwise and therefore would not know these new things that I have learned. I never would have known there were other moms out there who knew what it felt like to truly be in my shoes. 

Since talking to these moms through Parent to Parent, I have started imagining a new world of possibilities – a world of support, help, and realizing the people who are truly going to be there for you. The possibilities of what our child is going to be able to do instead of what he won’t be able to do. The possibilities of doing everything that we had planned as a family, but having it be so much more worthwhile because we know things could be so incredibly different. We have the possibilities of giving our child a wonderful quality of life. I realize that these moms have done it. And we can too!

If you would like more information about the Parent to Parent organization please click HERE. If you are feel lost and alone and think you are the only one dealing with a certain disorder, they may be able to help.
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Friday, August 14, 2015

A day in the life...

I have been thinking about whether or not I should even write this. I have decided to share a video with you. It is rather long. It may disturb some of you. It may make you sad. But I am not sharing this for pity or anything else. I am sharing this because I want people to see what we deal with sometimes. We also know that others have it WAY worse then us. I already think that we have to deal with this more then I would like, and I could not imagine seeing this every day, or several times a day.
This is a seizure.
This is the first time I have not been thrown into full panic mode.
This is his 8th one, ever(I think).
We have nursing care in our home that can help watch for any after effects.
We have doctors orders that say we can keep him at home unless A, B, or C happen.
This is the first time we have ever gotten the whole thing on video.
Yes, his doctors and nurses have looked at it and made suggestions on ways to improve, so please, no rude comments.
(This one happened right as he was waking up for the day. We took the blanket off because he hot. We were told that next time we should leave his shirt up too, so we can see how he is breathing.)
I hope you never have to deal with anything like this. I hope if you do deal with seizures, that you find some way to help them stop. These are NOT fun. We are very lucky to have the rescue medicine because it brings him out fairly quickly and is easy to give. If you would like more info about seizures please click HERE.
Friday April 25th 2014 was his first one ever! That was the hardest one to see because he was not on any medication and we didn't have any rescue meds to help it stop. That day we were forced to pause. That was one of many hard days that we have had to deal with. That day landed us in the hospital, as did most of his other seizures. 
We have been told that he gets seizures because his brain is not normal. It's because of the Hydrocephalus. This is probably the case and we may deal with this for the rest of his life. Not everyone with hydrocephalus has seizures though. Not all of the other boys that have the same genetic disorder as our son, have to deal with seizures. And people with "normal" brains sometimes have to deal with this. Basically seizures can affect anyone and the doctors end up learning more from the patients then they do in school.

Hopefully you don't have to deal with this, but if you do, please share your story with me. How often does you or your child have them? What do you do to stop them? What are your thoughts on cannabis treatments?
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Friday, August 7, 2015

G Tube Care

Does your child get fed with a g-tube? 
Have you been struggling with it?
Does it look red?
Is it always irritated?
What have you tried to do to make it better?
How many doctors have looked at it?
How many creams have you tried?
Anything natural?
Has anything really helped?
Our son has had a g-tube for about 2 1/2 years now and it has been a constant struggle. It has always looked red. It has always leaked. He has had multiple people look at it including, a GI doc, a wound care nurse, and a dermatologist. We have tried EVERY kind of cream, barrier, gauze pad, and even a few non-traditional things like crushed tums. Nothing has seemed to help. At one point someone said we might have to take this one out and relocate it to a different spot! That's when we really pushed oral feeding in hopes of just getting rid of it. Well that did go over well either. He is just not ready to handle all of his calorie intake, that he needs to grow, by mouth. Then add water, medication, and anything else in the "what if he gets sick" situations. Nope it is just not in the cards for him right now. So we are back to square one.
We have gotten the go ahead to try anything that we think will work. And we changed out the button for a more traditional style tube with the thought that he may be allergic to the plastic of the button.
This is what the site commonly would look like...
g-tube site
What we were always dealing with
So I posted a picture like this one on social media and got a lot of feed back. Most of it we had already tried and had no luck with. That's when Alicia Koehler got in touch with me. She said that she makes cloth belly pads that go under the tube. Then she got my address and sent me some to try. She sent 2 different styles, ones with just a slit in the middle, and others with a plastic snap on them. 
We are currently using skin prep barrier wipes, stoma powder, the traditional tube (not a button), and the pads that Alicia sent us. 
Here are the results...
g-tube care
Amazing results!
 We are still not out of the woods yet, but it looks WAY better! The shininess is gone. It is no longer flaming red. It does not leak as much. And he seems to be less bothered by it. We are now dealing with just a bit of granulation tissue because the new tube moves a lot more then a button, and there is no extension that we can remove so we are always having to tuck the end of the tube somewhere. A small price to pay for these results!
This is one of the pads, with a snap, under the tube...
g-tube care
Love the snap!
These are the pads we got to try out...
g-tube care
Lots of different fabric to choose from...completely customizable! 
I absolutely LOVE these pads! For ease, we like the ones with the snaps, but they both work well.
If you would like to get your hands on some you can head over to Alicia Koehler's shop at

Just click on the link above and it will take you right to her store where you can customize yours today!
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Sunday, August 2, 2015

1 in 60,000 doesn't feel so lonely anymore

Scared     Rare    Lonely    NICU    1 in 60,000    X Linked Hydrocephalus      L1 CAM

Can you relate to any one of these? This is what we were up against when our oldest son was born. A condition so rare that the genetic department in our clinic has never seen another family with this. Doctors told us to prepare for the worst. We made many attempts to connect with SOMEONE, ANYONE, else that may be dealing with this same condition. We just couldn't believe that we were the only ones out there. But all of our searching came up with nothing. NO ONE like our son.
Life was hard. We didn't know anyone else with a special needs kid, much less one with so many medical challenges. For 2 years we leaned on each other and God, because we had no one else. We got through life...some how. (looking back I really don't know how we did it)
Then one day last August, after blogging for a few months, and sharing our story on social media, someone got in touch with me and said there was a Facebook group with other families like ours!!!!! She accepted my request to join the group and I didn't sleep very well that night. I was up scanning everything in the group. Reading all the posts. Finding out where everyone lived and the ages of the boys. That day changed my life! 
This last weekend was another moment in time that I will never forget. 21 boys from this Facebook group, and their families, all met in person for the first time! There are other families that couldn't make it for various reasons, and  we were sad that they weren't there, but the ones that did make it had a great time. 

21 boys with L1CAM syndrome all in one place
I can still barely wrap my brain around how great it was. Our lives have changed so much in the last 3 years, and even more so since finding this group of families. It has saved my soul in more ways then they may ever know. Just knowing that they are there brings peace and joy to me. We support each other when one of our boys is having a bad day. When someone is in the hospital we pray. We go to each other for advice. We vent when doctors and therapists are not listening to us. And when a boy passes on to the next life, we are there for the surviving family members. We help each other in any way that we can through long distance. 

2 boys, 1 rare connection, forever friends

This picture sums up the feeling of the weekend. We all hugged as soon as we saw each other. We were all so excited to finally meet in person. Some of us sat back in awe. Some cried tears of joy. Some were thinking about the boys that have been lost to this disorder. We were all missing the ones that couldn't make it. We were all learning from each other.

Here is our son, Noel, with some of his new friends.....
Noel and one of his new friends
2 different boys that do the same things
Just 2 friends going out to eat
A parade of wheelchairs walking back to the hotel
I didn't want the weekend to end. I missed my bed, but wanted to stay and soak in the moments. I wanted to get to know the boys, and their families better. I want to bring them all back to my house so we can all live together. I want their boys to teach our boy. I want to do it again next weekend. I want to learn everything that they know, so we can do it too.

My heart is full. I feel so blessed to have these people in our life. No matter the distance, or year, we will see each other again, and we cannot wait! 
Here are what some of the other families have said...

"This L1 journey feels less like 1 and 60,000 and more like family."
"Arriving as strangers and leaving as friends."
 "Made our children feel normal, we were the weird ones"
 "Happy to find new lifelong friends/ family"
 "Meeting each other was wonderful, SeaLife was fun but sitting around while we visited and our boys played was priceless!"
Friends that have become family. 



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