Alexis, 11 (Anchorage, AK) | Optic Nerve Hypoplasia

ALEXIS, 11 (Anchorage, AK) | Optic Nerve Hypoplasia

written by her mother, Jennifer

photographed by Laura Stennett Photography 

I found out I was pregnant in the summer of 2004; I was nervous and excited. I thought about all of the things I would teach my daughter, and all of the things she could do. I never imagined all of the things she would teach me. I prayed for a healthy and beautiful baby.  I never dreamed how my world could be turned upside down.

When Alexis (Lexi) was born, they handed me a perfect little girl. She had a head full of curly black hair, beautiful lips and the cutest hands and feet I'd ever seen. She wasn't crying, and the hospital staff said she doesn't want to wake up, she wants to go back to sleep. Little did I know that was a sign of the journey ahead. When she finally let out a whimper, it was the most beautiful sound I've ever heard.

A few hours later we switched rooms, and the nurse turned on the light. Lexi was blue. She was rushed to the NICU, I had no idea why, and I wasn't able to see her until the next day. When I saw my little girl, she was hooked up to monitors and IVs. She had jaundice and was under UV lights, she couldn't regulate her body temperature, and her blood sugar levels were really low.

Her feet were poked for blood every three hours, and finally on day seven, she was diagnosed with low cortisol and was given cortisol replacement three times a day.  Hospital staff reassured me she would probably grow out of it and eventually be fine. Alexis was monitored for another three days before getting to come home.

I noticed she wasn't focusing on objects. At Lexi's two-month check up, the doctor shined a light in her eyes, and with a concerned look, she said I'm going to get another doctor. That doctor said, “I'm so sorry, but Alexis has no light perception, and she is blind.”

I felt my world come crashing down!  Thousands of questions flooded my mind: how did this happen, and what did I do wrong?

We were referred to a pediatric ophthalmologist, that doctor had a wait list of four months. Thankfully, they were able to see us within a month. This time she had light perception, and it was the best news. It meant she could see!

The doctor wasn't optimistic about how well her vision was "She will never be able to see color or shapes."  I didn't care; I knew there was hope! Alexis was diagnosed with Optic Nerve Hypoplasia/de Morsier syndrome. I was told she may never be able to walk or talk. Once again, I felt like I let her down.

As angry and sad as I was, I knew I had to be strong for her. No matter what, she was my little girl, and I loved every ounce of her.  We were going to get through this!

I never could have imagined how she was going to prove all of the doctors wrong! Alexis started receiving OT, PT, and services for the blind when she was three months old. Alexis has always been full of life; she is happy, loves to meet new people and loves anything that breathes, even insects! Yuck!

Lexi started to crawl when she was a year old and started to walk a few months after her third birthday. She started school when she was three, and she loved it! Lexi has hypopituitarism, which controls her growth hormone and metabolism, so she takes growth hormone replacement every night.  She is lacking thyroid hormones, and was diagnosed with adrenal insufficiency, which means she doesn't produce enough cortisol on a daily basis or in stressful situations.

Sometimes she has seizures when she gets ill due to her not producing enough cortisol. I decided I wanted to get Lexi a service dog, and with many peoples help, we were able to get Kona. She is in the process of being trained in seizure alert and cortisol detection for Lexi. It sets my mind at ease knowing I will be alerted if Alexis’ cortisol levels start to drop or if she starts to have a seizure.

Kona and Lexi are two peas in a pod. Two years ago, we found out about Camp Abilities, a summer camp for the visually impaired. Before then she didn't want to use her white cane, but once she saw everyone using one, she didn't mind using "Rosa."  At first she was scared, but by the second year, she stayed the whole week! Lexi has made many friends through camp, friends that will forever have an impact on her life.

I knew I always wanted to be a mom, but I could have never imagined just how much I needed her. She has blessed my life.  Lexi struggles everyday as much as she thrives. Life is what you make it, and everyday she makes me the proudest and happiest mom in the world. There is no cause or cure for kids with ONH. It occurs 1 in 10,000 births, and sadly is becoming the number one leading cause in childhood blindness. 

Jennifer said she has found this Facebook group for parents of children with Optic Nerve Hypoplasia to be extremely helpful in navigating their journey and finding support: https://www.facebook.com/groups/ONHSOD.parents.MAGIC/

Elijah, 3 (Eagle River, AK) | Down Syndrome, Acute Renal Failure, Disseminated Intravascular Coagulation, Hypotension Shock, Meconium Aspiration Syndrome, Respiratory Failure, Portal Vein Thrombus, Persistent Pulmonary Hypertension, Hypoxic-Ischemic Encephalopathy, Congenital Hypothyroidism

ELIJAH, 3 (Eagle River, AK) | Down Syndrome, Acute Renal Failure, Disseminated Intravascular Coagulation, Hypotension Shock, Meconium Aspiration Syndrome, Respiratory Failure, Portal Vein Thrombus, Persistent Pulmonary Hypertension, Hypoxic-Ischemic Encephalopathy, Congenital Hypothyroidism

written by his mother, Theresa

photographed by Sugar Six Photography 

Elijah was born dead after being at the hospital for only 15 minutes.

We almost stopped at the mall on the way to the hospital.  

When we arrived at the hospital I sent my Mom and the littles to get a bite to eat.  They would meet us in a room later to see the baby being born.  The older girls went with Ronnie and I.

"I am about to deliver."

Apparently the nurses did not take me seriously.
Walk down a long hallway.  Pause for contraction.  Get weighed.  Sign some papers.  Change into hospital gown.  Pee in a cup.

"Are you kidding me, I am about to deliver a baby here."
"Well, we will check you soon to see if you need to be sent home to labor and come back."

"Umph, that ain't happening."

"Let's hook you up to monitors."

"CAN YOU WAIT A MINUTE, I AM HAVING A CONTRACTION HERE!"

"I cannot get heart tones. We gotta get her in a delivery room."

"CAN YOU WAIT TILL AFTER THIS CONTRACTION?!?!"

"No, we have to go now."

Being ran down the hallway on a stretcher I vacillate between hollering and telling the nurses, "I am usually a very nice person."

"Epidural or natural?" was asked in the middle of a contraction, during the high-speed race.

"Natural,"  sweetly answers my lovely daughter, who has read all the midwife books.

"EPIDURAL!" I say holler, after having read the same books.
I am trying to not push.

"She is pushing.  Check her."

"Oh *#@$!!  There's the head.  We gotta get to a room."

"There's not time.  Push."

"I CAN'T!"  Yeah, I am not big on pain.

"YOU HAVE TO!"

Next thing I know I feel his little self all 9 lbs 6 ozs come sliding out.

Great, I can relax now.  
Wait a minute, why is it so quiet?
The room fills with medical personnel.  Seventeen of them.

"What's going on?"

Silence.

"What's going on?"

Silence.

"WHAT'S GOING ON?"

"It's going to be ok," compassionately answers a daughter.
I look over and he is not moving.  I look at my other daughter.  "It's going to be ok," she says with fear and trembling.  Ronnie is speechless.  I cannot hear nor understand the quiet talk of the nurses surrounding Elijah.  They are giving him shots.  They are trying to resuscitate him.  A couple of them are overwhelmed and have to leave the room.

"WHAT IS GOING ON?"

"We are working on him."

15 minutes pass. 

"How long will they keep this up?"

Silence.

20 minutes have gone by. 

"How long will they keep this up?"

The only man in the room, besides Ronnie, is standing at my feet, pulling on the umbilical cord.  

"Has anyone ever hit you?"

He looks at me and laughs.  

"Because I am about to hit you."  Dude, you don't know how serious I am.

He continues to stare.

"This is better than cable, eh?"  Yeah, I'll humor the guy.  Then maybe he will stop staring and pulling. The girls swear he is the maintenance man.

A doctor comes over, "Your baby is very sick.  He has been without oxygen for over 20 minutes.  We don't know how long he has been without a heartbeat.  His cord was wrapped around his body and he has aspirated meconium.  We don't know why this has happened.  We will do all we can.  Do you have any questions?"

"Are you the best person to be working on him?"

"I believe I am."

"May God guide your hands and your decisions."

"Tell him 'bye'."

They wheel him over and I place my hand on his tiny chest.

"Elijah, mommy loves you.  Get better."

He startled, opened his eyes for a second, and looked at me.

The next time I saw sweet baby he was hooked up to a plethora of machines.  He was alive.  For how long, we did not know.  The doctors and nurses kept saying they were sorry. Sorry?  Sorry for what?  He is in God's hands.  God determined this before the foundation of the world.  We are trusting in God's Sovereignty.  You would have thought we had grown 3 heads the way some of them looked at us.

We continued to befuddle the doctors. 

During the first week, one entered the room cautiously and looking very nervous.  Our pastor was in the room.  Again.

"The DNA test results have come back."

"And?"  I am expecting something horrific.

"It shows positive for Trisomy 21."

"Ok, and?"  Still waiting for a big revelation.

"Do you know what that means?"

"Yeah, he has Down's Syndrome."  I wish he would just tell us what the problem is.

"Do you understand what Down's Syndrome is?"

"Yeah, he has an extra chromosome, no big deal," I hear Ronnie say.

"Look, if that is his only issue, it's not a problem."

"Uh, that's all."  Cue puzzled doctor leaving the room.

No, we did not know that he had Down's before he was born.  Yes, I had prenatal testing.  No, if we had known beforehand, it would not have changed anything.  Well, I might have read a couple of books every book I could get my hands on.

Over the next few weeks, at the hospital Elijah continued his fight for life.  There were a couple of doctors that would come in every couple days with "We are going to have to talk about if what we are doing is just prolonging the inevitable.  We can keep him alive, but we have to think about quality of life."  No.  I am not having that talk.  God, if you want him, take him.  I am not strong enough to have that talk.  "We will have to talk about shutting all this off.  He is on a lot of support.  He should not be alive with all this support."  I would just tell them that he was in God's hands.  They said we would talk later.

After one of these 'talks' I closed the curtain around myself and wept.  I was weary.  I was tired.  It was so hard seeing that precious soul fight for life.  A nurse came over to console me.  "Did the doctor come in and talk to you."  I nodded.  "Well, she didn't tell you anything you didn't already know, right?" That made me mad.  I must have gave her 'the look' because she left and I never saw her again.

The hardest times were when the younger children would ask, "When is he coming home?"  I didn't know what to say.  I didn't know if he would come home.  "I don't know.  He may not come to our house.  We may only be home together in Heaven."  I wanted them to know that this is not our home.

Weeks passed and one of the doctors mentioned going home.  Home?  Is that possible?  I am still in the survival mode!  We actually didn't know the day were we going home until that day.  But what a glorious day it was!  A close second to the first time I got to hold him.

Elijah continues to follow-up with 10 specialists.  For the medically inclined, Elijah's diagnoses included acute renal failure,, disseminated intravascular coagulation, hypotension shock, meconium aspiration syndrome, respiratory failure, portal vein thrombus, persistent pulmonary hypertension, hypoxic-ischemic encephalopathy, congenital hypothyroidism, and trisomy 21.

Elijah has physical, occupational, and speech therapy 7 times every week.  Because of his weak muscle tone from the Down Syndrome and HIE, he must work extra hard and tires faster than typical kids.  He has undergone 5 surgeries including a heart catheterization. He has been hospitalized twice with pneumonia, once with dim survival chances.  He continues to face his challenges with a smile and fighting spirit.  

We anticipate a beautiful future for Elijah.  We cannot adequately express our humble thanks to the NICU staff at Providence, specifically Dr. Mary-Alice Johnson, and nurses Ashley Williams, Jessica Flitcroft, and Jon.  Today, Elijah's favorite therapist is Tiffany Johnston at Playful Learning in Eagle River, with Tara Acton a close second. Our friend Grace Mischenko was a great help with DS info as well as the personal blogs http://noahsdad.com/ and https://kimchilatkes.com/.  

This journey has taught our family to more fully trust God, to be able to ask for and accept help from friends and family, and to be more compassionate to all those we encounter.  We have grown closer and stronger and more fierce in our commitment to those we love.  However, unlike most others I read or speak to, if given the chance, I would take the disability from my child. 

But until we reach Heaven, I will live and praise God for the gifts that He gives.   Especially the precious gift of our beautiful, tenacious, Warrior Kid of Alaska.

Sophia, 8 (Anchorage, AK) | Congenital Heart Defects

SOPHIA, 8 (Anchorage, AK) | VSD, Aortic Stenosis, Interrupted Aortic Arch

written by her mother, Talia

photographed by Laura Stennett Photography 

March 6,2008. That's the day everything changed.

My husband and I had gone to my 20-week appointment a couple of weeks before, and learned we were having another girl. Our older daughter Gabi was so excited, but my doctor was concerned about the baby's heart.

“It probably wasn't a big deal,” they said. It was hard to tell because she was laying on her right side, and wouldn't turn over so they could tell how the blood was flowing in her heart.

Fast forward to March 6, when the doctor came in to look at my ultrasound. As the tech listed off parts of the heart, all she said, over and over was "abnormal." I layed there and cried and cried and cried. My baby had a broken heart and I didn't know what that would mean for her.

I called Gabi's pediatrician and explained the situation to him, and was referred to our amazing cardiologist, Dr. Scott Wellman. Dr. Wellman was what I needed. He was straight to the point. I was not having this baby in Alaska, and she would have open-heart surgery shortly after her birth. 

Sophia was diagnosed with a large VSD (ventricular septal defect), aortic stenosis and interrupted aortic arch.

A ventricular septal defect is a hole in the wall separating the two lower chambers of the heart. Aortic stenosis is a narrowing of the aortic valve opening. It restricts the blood flow from the left ventricle to the aorta and may also affect the pressure in the left atrium.

An interrupted aortic arch means a small section of the aorta is missing. Children with interrupted aortic arch cannot pump blood normally to the lower body.

The thing about heart babies in Alaska is that there are no surgeons here, so you have to fly your family out (if you can afford it, most insurances only pay for the child and one adult escort) and stay in hotels/hospitals until it's time to come home.

Anyway, the plan was made for me to be induced 2 weeks before my due date, where Sophia would then be transferred from UW Medical Center where I would have her to Seattle Children's Hospital, shortly after her birth. Well, Sophia didn't like that idea, two weeks before I was supposed to fly to Seattle, I went in to pre-term labor. We immediately went to Seattle, because this baby was coming, but really she wasn't. Jason, Gabi and I hung out in Seattle for two weeks until July 7, 2008, we made our way to UW for our sweet girl to be born.

 I can't continue my story without talking about the wonderful people that have dropped everything to come to Seattle and help Jason, me and more importantly Gabi, not once, but twice and three times do some. My mom, my grandma, my sister, my aunt Linda and uncle Mark and my aunt Tina. I will forever be indebted to the love and support you all have given us over these 8 years.

After having Sophia (on July 8, mind you) she was taken to Seattle Children's Hospital. I was discharged the same day I had her, and we spent a week with her in the NICU.

On July 15, 2008, Sophia had her first open heart surgery. They were able to repair her heart, but she still had a bit of a heart murmur. She was kept open for a few days because her heart rate was funky, so we couldn't extubate her or hold her. I would rub her legs or her forehead. I would talk to her…I spent literally every waking moment with her.

Then came teaching her to eat. She was fed via a nasogastric tube because she could not be breast or bottle fed until after her surgery. This meant I was pumping breastmilk for her, a lot. I was hooked up to my breast pump every two hours. There was so much milk I filled a 60-lb cooler for the flight home. We were discharged on July 31 and headed home August 1. I was relieved to be home. There were medications to give and lovinox shots to give for a blood clot that formed, but we were taking our baby home.

It was a tough few months. Sophia was colicky, and I called my mom crying all the time. It was so hard. Then came November 2008. Routine cardiology appointment we thought, but it wasn't. Sophia and I were medivaced to Seattle because her aortic arch had severe blockage and needed a stent put in. We've had a lot of surgeries for Sophia, but this one was the scariest. This is when I first realized that my baby could be really sick.

Sophia went back to Seattle at 18 months for a balloon angioplasty in that arch and was put on blood pressure medication after that appointment. (Sophia just turned 8 and is still taking blood pressure medication twice a day).

 For the next three years, life was normal…or as normal as life can be with a child with a heart defect. I still cried a lot, I still worried a lot, but life was good. Sophia grew in to her feisty, stubborn self and we continued to see Dr. Wellman every 4 months.

In November 2012 (I'm good with dates, I kinda hate it), Sophia went for her check up before we went to Disney World. We were told Sophia would need another surgery, another angioplasty and at some point in the next 6-9 months, she would need another open-heart surgery.

I was crushed. Seriously, another open-heart?! How can this be? But I marched on. I wasn't going to show my girls my fear. In January 2013, Sophia and I flew to Seattle for a quick angioplasty and in February 2013, Sophia had her second open-heart surgery.

I don't do well with them, at all. I don't eat, I get grumpy and I just want to take all of this away from her. I would take this all on myself in a heartbeat if I could. 2013 was also the year Sophia had her Make-A-Wish trip. It was an amazing time, and a break from the reality of Sophia's condition.

Fast forward to August 2016. Again, we're told that within the next year, our Sophia will have another open-heart surgery. I'm sad, I'm mad, but most of all I'm numb. Sophia understands this now. A couple months ago, as we were driving in Seattle, I came to the sad realization that the next time we would return to Seattle would be for another surgery. I think Sophia did too. She laid her head on my shoulder and asked me what it would be like. She asked how long the surgery would be, how long would we be in Seattle. She asked how long would she be in the hospital. Instead of explaining it to a 4-year-old, on their level, I was explaining it to an 8-year-old and she got it. And that breaks my heart.

While I could end this with how I feel, which is angry, terrified and so sad, I'm going to end this with a look into our Sophia. Anyone that knows Jason and I know that we don't define Sophia by her heart defects. We have only told her she couldn't do something once; she can't play soccer with how physical it is becoming. But other than that, the sky's the limit.

Sophia is a ball of sunshine and energy. She is the happiest and most stubborn person I have ever met. She is strong and compassionate and she literally has the biggest heart of anyone I know. You would never guess she has had five heart surgeries if you met her. I honestly don't know what the future holds for. I don’t know how many more surgeries she will have, but I know she's happy and she is very well loved.