Category Archives: L1 Syndrome Awareness

Raw and Confidential Confessions of a Special Needs Mom

Confessions of a Special Needs Mom

I’ve written this for one reason: to give light and insight into the emotions of a club I hope you are never a part of: the special needs club. Specifically, the special needs club of a rare condition. You see, unlike cancer and autism (that have their own difficulties)… no one has ever heard of us. There are several conditions that fit this club, obviously L1 being my club of best fit.

1. There’s a Difference in Being Alone and Being Lonely

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He needed brain surgery? We’ll be here awhile. He needs observation for seizures? Darnit, I hoped this wouldn’t happen. We’re going to give him fluids for hydration? That was easy. While we’re at it, lets grab a renal ultrasound, stomach xray, and brain MRI. Check! Some mamas and papas get very lonely. Some mamas and papas need help making time for each other. Some mamas and papas want some time to breathe. Some mamas and papas just want to sit silently with their children. If you want to help, knowing what they need is a lot more helpful than pushing your agenda on us!

2. We Remember Who Respects Us…
We Remember who Doesn’t…

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Did you text us love hope and prayer even when we forgot to text you back? That gives us reassurance. Were you in the hospital 24 hours straight showing support in your way, not ours? That causes us stress. Did you ask us what we wanted for dinner and when you could drop it off? That shows us love. Did you make a fuss when we mentioned it wasn’t a good time? That pisses us off. Did you pray from the quiet of your bedroom? That gives us comfort. Did you ask for favors? That off-sets our focus. Did you reply with any ideas you had to our facebook status questions? That gives us room to grow. Did you reply to facebook statuses with messages we were doing something wrong? That’s just plain silly.

3.  Never Disregard Our Research

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Okay okay okay. I get it! Really! I worked in a vet clinic for four years, my best friends are veterinarians and pharm D’s and I’m fully aware they hate hearing…. “I looked it up on Google and….” But let me give you something to think about……

More doctors have looked at my son than I can count, literally. There were 11 doctors in NICU, 7 or 8 at his current pediatrician’s office (he’s seen 3 of them), 9 or 10 specialty offices, we’ve Tweet: How much do you know about L1 Syndrome? Did you know it affects fewer than 5,000 boys?been in the hospital twice since NICU discharge with rounds twice a day… usually that means two teams of doctors and each team has 3-6 doctors on the team. This doesn’t include nursing staff, support staff, therapists, and nurse practitioners. Want to know how many of those doctors had heard of L1 Syndrome? NONE. The Genetics Doctor and our Occupational Therapist had heard of x-linked hydrocephalus before, but both had information that were myths.

My point: I do my research. Four years at N.C. State University taught me how to conduct proper research. It doesn’t matter if your sister is a nurse, aunt is a pediatrician, or dad is a kidney specialist. Unless you are answering specific questions I’ve already looked up or you are an L1 Syndrome Specialist just because something happened similarly to your nephew’s best friend’s cousin…. or just because your sister has hydrocephalus…. I’m willing to bet the situation was entirely different.

 

4. Don’t Remind Us What Isn’t Done

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We are fully aware that our floors need vacuuming, cars need cleaning out, and baseboards need scrubbing. We also understand that you want us to run to the mall with you, catch a late night movie, and hit the next party. We comprehend the fact that we (to you, anyway) become hermits. It isn’t rocket science that we are “different” from you and your family. Instead of pointing all this out, why don’t you just reply to our random texts with a “hey! I was thinking about you last night! how are you?” Why don’t you just take out our garbage. Why don’t you just shout out to us on facebook – we might see it – eventually 🙂

 

5. Paperwork and Phone Calls are More Exhausting than Therapies and Our Jobs Could Ever Be

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Lemme tell you. I work for the post office, outside the home. I also take care of my 2-1/2 year old and 8 month old. I have two dogs. I have a husband. NOTHING is more exhausting than spending 3 days straight on the phone with insurance companies, billing and claims departments, and doctors only to realize I am no closer to having anything straightened out than I was 72 hours ago… then I wonder why I am trying. No one else is.

6. THE NUMBER ONE WORST THING

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Tweet: Be the difference: help spread the word that L1 Syndrome exists! http://ctt.ec/ufT9b+ Is that NO ONE HAS EVER HEARD OF L1 Syndrome! Help me change that. Change the world. Do you have a picture of my boy Noah or another L1 Baby? Instagram and tweet hashtagging: l1legend, xlinked, xlinkhydrocephalus, and my own tag – l1syndromeawareness! SPREAD AWARENESS! There is no cure. But, there are treatments. And, since no one has ever heard of it…. there is a clearly a need for people like you who are willing to stand up and make a difference.

7. We Need Your Prayer

Moms, Dads, Brothers, Sisters, Noah himself, and extended family too…. we all need your prayers. One thing parents of special needs children will never complain about: too much prayer.

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To Recap:

1. We don’t fear the hospital, we dread it.
2. We remember who respects us, and who doesn’t.
3. Never disregard our research.
4. Don’t remind us what isn’t done.
5. Paperwork and phone calls are exhausting.
6. The #1 Worst Thing: No one knows us
7. We Need your prayer.

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I Do Not Love My Son Despite His Condition, Nor Because of It

 

I do not love my son despite his disability (nor because of it).

My son Noah is seven months old. He is super cute and totally adorable. He’s never even been bitten by so much as the flu. He did have a suspected UTI that landed him five days in the pediatric ward. Random swelling has left us in that corridor as well. This is of course after his three week NICU stay due to brain surgery. But generally speaking, I feel like my kid is healthy. Breast milk much? I think so!

I Do Not Love My Son

The Beginning

That said, he was born with L1 Syndrome. I do not care what syndrome he has or does not have. And judging off the pictures I’m posting and character that Kara shows… she doesn’t care either. Daddy doesn’t care, either. So if we don’t care, if it makes no difference, if we are going to change dirty diapers, sing, play, and cuddle either way…. why do I not love him despite the disability?

Kara has curly hair. Would I love her differently if she had straight? Noah had brain surgery. Did I love him differently during surgery than I did before or after? NO!

While holding him, I’ve heard family members say, “We love you anyway, Noah,” or maybe, “[Mom], you are going to love him despite everything he has going on, you just have to stay strong.”

NO. NO. NO. NO. NO.

What if We Just Love….?

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What a crazy silly family. We love, just because we love! Love is an end within itself. And a beginning. Ditch the word despite. Ditch the word despite. What if we just love, to love? While you may not have birthed a disabled child, I’m willing to put money on the fact that you’ve heard friends and family say: “I love him, but…..” or maybe, “I love her because……”?

Why must we condition our love for someone? Why? Do we not just love to love?

Several months ago, I stumbled upon an article written by a North Carolinian pastor. He wrote, what if, when his children were grown, they revealed to him they were gay. He wrote, “I won’t love them despite their sexuality, and I won’t love them because of it.”

Such a powerful proclamation!

What I Always Knew

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From the moment I saw the positive on the pregnancy test, I knew God had a plan for this little one. A little less than two months later, when our Chorionic Blood Sampling tests came back contaminated at 13 weeks gestation, I had a gut feeling my child would have L1 Syndrome, and that my Little Bit was a boy. What I didn’t realize at the time was that there would be family members, friends, and strangers that singled Noah out.

There would be family members so moved by him, they would move toward Jesus. In their words, “feel called to Jesus” because they “see a miracle” they’ve never seen before.

They didn’t see a little miracle in Kara, my healthy two year old. They aren’t reminded of strength in Kara. In Kara’s birth, they weren’t reminded of the verses: Genesis 1:27 “So God created man in his own image, in the image of God he created him; male and female He created them,” and Jeremiah 1:5 “Before I formed you in the womb I knew you, and before you were born I consecrated you.”

But I did. I was reminded. I saw. My eyes were open. With both of my children, I rejoiced at the kicks in my tummy. I laughed at the cravings. I leapt with joy knowing they were mine. I knew that God had a plan for my girl, a place in this world for her. I knew that God’s boy would move mountains and light up shadows.

When we received the diagnosis of L1 Syndrome for Noah, doctors told us Noah would not live. At delivery, doctors told us Noah would not cry. In surgery, doctors told us he would not leave NICU. At home, doctors told us Noah would not nurse. It became our norm to hear what would child would not accomplish. No doctor ever said that about our healthy daughter, Kara.

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hmm…… I keep wondering and thinking….

I’ve been told angel voices sing from Noah because he should not have cried.
I heard them from Kara when she cried.

I’m told Noah makes people want to fight because he fights.
Kara made me want to fight.

Everyone exclaims from the highest mountain top that that Noah is a miracle.
Kara, too, was my miracle.

One person mentioned to me that while Kara is full of love, and amazing to watch grow, Noah is different.

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Let me return to: Not only do I not love my son despite his disability, I do not love him because of it.

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If I loved Noah despite his condition or because of it, I am adding a condition. Love is unconditional. If I love Noah because of his disability, I love Kara because she is healthy. If I loved him despite his health, I would love Kara despite her health. & that is just totally ridiculous.

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I see Jesus in Kara. I see Jesus in Noah. Kara makes me want to be better. Noah makes me want to be better. I see a miracle in Kara. I see a miracle in Noah. I see love in Kara. I see love in Noah. I hear the angel whispers from Kara. I hear the angel whispers from Noah. Noah is different. Kara is different. When they look at eachother…. they see….. eachother. They see themselves. They see love.

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I am different, too. Not only do I not love my son despite his disability, I do not love him because of it. There is no condition. I just do.

 

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An Astounded Neurosurgeon Follows Up with L1 Baby

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China Grove China Grove!! I’m telling you; Noah has done it again! My little Miracle on Mainstreet! Thursday morning bright and early I packed the kids up in the car and off we headed to the next biggest city nearby for a follow up with the neurosurgeon. Sometimes, I get aggravated that a simple fix isn’t simple for us, a local doctor isn’t good enough for us, and a 20 minute ride almost always turns into a ride over than an hour. But, that’s the life …. and it’s a good enough life for me!

My mom arrived and off we headed. Kara was stoked to be getting to go see Abbey, Noah’s PA. Abbey always remembers Kara, and always includes her. This time was no different. Abbey asked Kara as soon as we got there if we were heading to the aquarium after this visit, too! Of course we were! To see fish and sharks! I think my mom was even excited Abbey remembered Kara!

We arrived and were immediately whisked back to the MRI machine. I got permission to snap a photo of Noah Bear in the machine next time at 9 months old; I didn’t want to take my phone this time and have my memory erased! Then we headed into a patient care room and played games with Kara with some really cool dollar store finds {{I could make an entire blog on those alone!}}.

Abbey came in.

“Noah! Heeeeeeeeeeeeeeeeeeey! How is this possible! You are so big! Look at you! You are adorable! Well, all I have is good news for mom! You look great! I can’t believe it! You are doing so awesome!.”

And then the small chat, fun happiness began. I think we threw ourselves a little party, even! Next time, I’m gonna have to remember to let Kara take Abbey a cup cake for Abbey’s birthday! I promise you, she is worth it. So, we went to x-ray to check the dial of the shunt and placement, and then I requested to view the scans.

So, lets see what they had to say. Lets compare birth to now:

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Okay, so… on the right, you have an ultrasound from 6 days old – 4 days after shunt placement. In the right image, BLACK is WATER, and white is brain. Well, somewhat. See the two large black circles? All that is water. See the distinct “outlines” around the water (not the super thick stuff around the whole bottom half of the image). That outline is all the brain that was visable. Not a lot. Prior to shunting, no brain at all was visable and doctors said he probably had hydroancephaly – no brain. Bullcrap.

The left side is an MRI of yesterday’s brain. In this case, the WHITE is WATER (not the black) and the grey stuff that looks like squiggles of intestine/brainmatter/whatever is the brain. So, your thinking not too fair to compare those since one is an MRI and the other is an Ultrasound…. right?

Take a look at this!

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The image on the right is 3 months old. Image on the left is 6 months old, yesterday. In these, they are MRI’s. The Dark squiggly is brain. The white/light grey is water. I *know* every single one of you looking at this image can tell a difference. Just look at it! There is so much beauty here!

  1. Look at the mouse pointer. See that line? Look at the same spot on the left. THICKER!
  2. Look just below that pointer. See white stuff? Now long on the left? There’s two HUGE black circles – BRAIN!
  3. Look in the white on the right? See how its light grey? Look at the same spots on the left. See how much darker that grey is? Its brain under the water!!!!
  4. Look at the dotted line on the left? Now look at the same spot on the right. See how much wider it is on the right than the left? BRAIN MATTER is starting to show!!!!

In fact, I even see a face on the left …. its’ Noah’s brain laughing at those doctors’ faces for ever doubting my boy! ❤ ❤ Jesus says He’s working miracles in Noah! ❤ Every. Single. Day.

Just for laughs, here’s a picture of the dial in Noah’s head. A little button and magnet that controls the fluid:

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So, when we go back at 9 months, we will try to turn the shunt down a bit and see if we can make the fluid flow out faster. We can’t allow the fluid to rush out too quickly, or we risk flooding the space on the outside of his skull, which isn’t acceptable either. So for now, we continue working with Noah, doing five therapies a day, and pushing him to be all he can be ❤

 

For those of you waiting for an update on the swelling… Noah’s had four blood draws this past month to try to grab a trend. All results have been within normal limits. However, we notice a change in glucose and sodium during swelling. His pediatrician and I have decided for now, assuming his body continues to regulate the swelling within 48 hours and he does not experience pitting edema, to allow his body to regulate. In adults, fluid and sodium intake can often be monitored and restricted to accommodate for Syndrome of Inappropriate Anti Diuretic Hormone. For Noah, he is a breast fed baby who’s entire diet is fluid at 6-months old. At this point, I do not want to begin severe medication regiments which may later teach his body he doesn’t have to regulate himself because medications will do it for him. For the time being, we will log in a notebook each episode, and he will be closely monitored during swelling to ensure clear airways.

Thank you for all of your thoughts and prayers. Each one of you are equally valuable to our family!

 

 

 

Noah’s Story
What is Wrong with Our Baby Boy?
Baby Boy Eagle Has A Name! He’s Born!
My Two Day Old Warrior
Totally In Love, Noah’s Improving at 5 days old
Noah’s Moving On Up
There’s Hope In Progressive
The First of the Setbacks
Back on the Road to Recovery
Slow and Steady Wins the Race
Steps Toward Home
Noah’s First Week Home
The Therapy Journey has Begun
7 Weeks Alive
Noah is Enabled; never DISabled
Noah’s Brain Development
My Little Family
L1 & The Pediatric Ophthalmologist
Really, What is L1?
A Frantic Day in the Life of: an L1 Family
An Astounded Neurosurgeon Follows Up with L1 Baby (this post)

 

 

What is L1 Syndrome

What is L1 Syndrome?

Ultimately, L1 Syndrome is a genetic mutation on the L1 Cam Gene that causes severe physical and mental delays. When I explained L1 the night before I delivered, I had no idea what to expect for my son. I didn’t really care about the science of L1 at the time. I cared about how it affected me, and how it would affect my son and my family. All of my research left me with a bunch of new big long words.

I have found an amazing support group of L1 Syndrome parents online. These parents enlighten  me and share their journies with me. They are the saving Grace God sent me. If you are reading this as a parent with an L1 child, please contact me and I can give you information to join this support team!

The Real Deal

L1 Syndrome, also known as X-Linked Hydrocephalus, prevents part of the brain developing because the DNA genetic makeup is altered. The term Hydrocephalus means that there is extra cerebral spinal fluid on the brain that can not be absorbed like normal. More severe patients of hydrocephalus receive shunts to assist the body with absorption. Although each L1 patient is different, and each family owns its own individual mutation, the disruption is typically a huge one that the body cannot compensate to correct. Each child will have their own individual strengths and weaknesses. He will have good days. He will have bad days. There is no way to predict what our boys will be able to accomplish, they are each one of a kind.

Noah has Agenesis of the Corpus Collosum (ACC). The bundle of nerves that connects the two hemispheres of the brain and allows them to work together is missing. People with ACC can be affected either greatly or not at all. Do not underestimate an L1 baby boy.

 

What’s the Hardest Part?

The hardest part of L1 Syndrome is the waiting and the unknown. But what’s silly? I have a healthy daughter. Just like we don’t know if Noah’s shunt will ever fail and need revision (surgery), we don’t know if Kara will ever fall and break an arm (need surgery). Its important to remember that everything in life God blesses us with is unknown. We are all waiting for the unknown. Our L1 boys are absolutely no different!

 

Where are we today (5 months old)?

In the original blog, I wrote:


Ultimately, it means we pray and love, wait and see. It means EACH child is different. No two kids are the same, no two mutations are the same.  We are expecting to see delayed speech/learning, low muscle tone, hydrocephalus, and delayed motor skills. We have been told he may need a wheelchair, he may never be independent, we may never hear him sing. We have been promised he will be intelligent, give more love than any other person ever knew existed, and make people laugh. We are hopeful he will be the odds: he will nurse, he will walk, he will find his own way to communicate.


Now, I’ll say this….. (he is 5 months old)

We still pray. We still wait. We still see. We grow with our support group and watch our son and the children of other L1 families grow having both good days and hard days. We see development (holding heads up and walking) and we see set backs (shunt revisions and eye surgeries). We see delayed and low muscle tone (he’s 5 months and just now starting to hold his head up) and high muscle tone (leg rigidity), but we also see celebrations (he coos and brings his hands to his mouth to show hunger). We are waiting for what we’ve been told. We’re experiencing what we were promised. He already makes everyone laugh. He gives more love than we could dream of giving him. And he has beat the odds. He lives. He nurses. He communicates.

My baby is thriving. And you wanna know what’s cool? He’s my baby! Now you can watch him grow (below)! At the very end of the thread are the links to all the other posts about progress around Noah Gabriel.

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L1 Syndrome, CRASH Syndrome, x-linked hydrocephalus

L1 Syndrome, CRASH Syndrome, x-linked hydrocephalus

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L1 Syndrome, CRASH Syndrome, x-linked hydrocephalus

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Noah’s Story
What is Wrong with Our Baby Boy?
Baby Boy Eagle Has A Name! He’s Born!
My Two Day Old Warrior
Totally In Love, Noah’s Improving at 5 days old
Noah’s Moving On Up
There’s Hope In Progressive
The First of the Setbacks
Back on the Road to Recovery
Slow and Steady Wins the Race
Steps Toward Home
Noah’s First Week Home
The Therapy Journey has Begun
7 Weeks Alive
Noah is Enabled; never DISabled
Noah’s Brain Development
My Little Family
L1 & The Pediatric Ophthalmologist
Really, What is L1? (this post)

Baby Boy: 37 Weeks, 1 day

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This is a long post because so many have asked what all we are facing. Futures will try not to be so long 😉

Well, I grew this pregnancy! && baby boy was much more punchy, kicky, and heavy than his older sister Kara! Of course,  at this point, Kara is a crazy hoot too, and she’s gonna make a great big sister!

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Baby boy’s name will be released with the next post… I deliver tomorrow. I always wanted to wait until birth to find out the gender of my child. I mean, seriously? How many real surprises do we get in life? Not many! Unfortunately, I’m in a situation I can’t do that – so the next best thing is to surprise our families! So, for now, baby boy is referred to as baby boy, baby bear, little bitty, or little man ❤ He should be referred to as fighter though! My man is strong! I don’t create anything less – ask Kara!

Doctors haven’t been hopeful we would see a full-term live birth during parts of this pregnancy, but at 34 weeks things changed:

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((doesn’t it look like God is lifting Fighter Man’s chin, holding him up high when he can’t hold himself up high, and saying “fight man, fight!”???))

Our baby bear has been diagnosed with L1CAM Syndrome. What this means? Well, it has been recently named CRASH Syndrome as well, acronym for: Corpus callosum hypoplasia (agenesis), Retardation, Adducted thumbs, Spasticity and Hydrocephalus. The extent of each piece is unknown until we “wait and see.”  I hope to speak with a genetics doctor within the NICU or soon after being released. We know more than some families, we know which amino acid was swapped, and we know where on the L1Cam gene the swap occurred located.

Mutations vary family to family, and its pretty much unheard of (there are very very few exceptions, like a handful) that the same mutation strikes two unrelated babies. The severity of disease is related to where the mutation occurs at within the L1 Cam gene… however, even two siblings with the same mutations can present in completely different ways and severity. So from a medical standpoint, my child really is the only child in the world with his exact condition.

What does this mean?

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Ultimately, it means we pray and love, wait and see. It means EACH child is different. No two kids are the same, no two mutations are the same.  We are expecting to see delayed speech/learning, low muscle tone, hydrocephalus, and delayed motor skills. We have been told he may need a wheelchair, he may never be independent, we may never hear him sing. We have been promised he will be intelligent, give more love than any other person ever knew existed, and make people laugh. We are hopeful he will be the odds: he will nurse, he will walk, he will find his own way to communicate.

For all of you praying for our family, our son, and our daughter…. thank you. That’s truly all I can ask! THANK YOU. Pray God knows what He is doing, and that He’s teaching us what He wants us to do!

The Statistics:
We do not have a diagnosis for him yet, as all will be diagnosed post-natal with MRI and Ultrasound technologies after extensive and complete behavioral and neurological exams. We are expecting further genetic testing as well.

We believe baby boy has X-linked hydrocephalus because of stenosis of the aqueduct of Sylvius (HSAS) which occurs 1:30,000. It accounts for approximately 5-10% of males with nonsyndromic congenital hydro. The prevalance of HSAS within L1 is rare enough its incidence rate is unknown.

Agenesis of the corpus collosm (Andermann Syndrome) in baby boy can cause anything from seizures to absolute normalcy, nothing. Usually it is not diagnosed until well within the first two years of life.  Because many cases are undiagnosed, and because complete and partial ACC is grouped together, it is believed as many as 1:1000 people may have some sort of “not perfect” corpus collosum.

 

Sources & Additional Information:
A(D) CC
L1 Bookshelf
Crash Syndrome
L1 Cam Database