​Nolan and Ethan

Glutaric Acidemia, Type 1

The Story of Nolan and Ethan, written by their mothers, Stephanie and Mandy

Nolan-
On Monday, November 7, 2011 my 10lbs. 3ozs. boy finally arrived in Menomonee Falls, Wisconsin.  Nolan David.  He didn’t even fit into the clothes I brought him to wear home from the hospital, he was so big.  A friend came to the hospital and joked he came into this world ready to eat a cheeseburger.  He was perfect.  On Friday, November 11, 2011 our family physician called to inform me that Nolan’s Newborn Screen had been returned from the state lab as abnormal.  Confession, I didn’t even know what a Newborn Screen was.  Our family doctor explained Nolan had indicators of a disease called Glutaric Acidemia, Type 1.  He said he was not familiar with the disease but there was a doctor at our Children’s Hospital of Wisconsin ready to see Nolan immediately.  He told me that the doctor seemed very knowledgeable and the diagnosis was not good.  Nolan’s new doctor took blood for confirmatory testing through his DNA and sent us home to begin treatment immediately with an emergency protocol, some foreign formula in hand and a strict feeding schedule, we again returned home with Nolan. That’s where it all began.  The beginning days, months and even years were filled with fear, anxiety, depression and even unexpected celebrations, joy, thankfulness as well as immense love.

Ethan-
Ethan was due on his Daddy’s 30th birthday, 11-11-11, but my 7lb baby was born on 11-7-11 in Pittsburgh, Pennsylvania. We were told we had a healthy baby boy.  Just a few days later we were told that his newborn screening was abnormal for Glutaric Acidemia, Type 1, but they made it seem like it was due to human error. So, at 4 days old we took Ethan back to Magee to redo the newborn screening. Not knowing anything about NBS I was angry that I had to go back to the hospital to retake the test. The 2nd blood test came back still slightly elevated so at 10 days old we took him to Children’s Hospital for more blood work.  The results of the 3rd blood test came back still mildly abnormal, but not diagnostic. At 3 weeks old we were back at Children’s where they did a skin biopsy and took more blood. He was started on Glutarex-1 “just in case” while we awaited the results that could take 4-6 weeks for the bloodwork and 2-4 months for the biopsy. ​

​Nolan-
Nolan started out strong and overall he was a happy infant.  We fed him his special diet of GluterAde Jr. formula and I religiously pumped breastmilk while adjusting quantities as needed based on regular labwork.   Though we tried all the tricks possible, Nolan struggled with poor appetite and meeting his goals for intake.  After his first ear infection/illness at 6 months old and a lengthy 9 day inpatient stay his appetite declined further as well as his need to control the one thing he could, he couldn’t say no to an IV in his arm, an ear check, doctors poking and prodding him, that he couldn’t control, but he could close his mouth and not eat, so he did just that.  By 8 months old Nolan had a gtube placed.  I thought it was going to ruin my Noli, take away his purity, hinder his development, I thought it was awful.  Until a couple of weeks in, when I realized the freedom it gave Nolan and our whole family.  Our life was no longer centered around meeting intake goals for volume.  With a little assistance from OT, Nolan to roll over, crawl, and was developing just as he should otherwise.  The feeding tube didn’t stop him a bit!  Unfortunately, Nolan continued to be ill often.  We began to get to know the ER and floor nurses better than we knew our own friends.  We were “frequent flyers” at the hospital.  I learned early on it was better to make Noli comfortable and safe with the nurses so he wouldn’t fear being at the hospital.  I learned where everything was at the hospital, I knew my resources within the hospital.  I made up all his feeds myself, I continued to pump breastmilk, developed a regular routine while we were there and kept him on schedule as often as possible.  Unfortunately, Noli became ill more and more frequently with more and more severity.  He had an MRI.  It showed the abnormal findings of a typical child with GA1 and a spot or possibly 2 of hyperintensity, but still he was developing at a normal healthy pace.

Ethan-
Despite the diagnosis Ethan also started out strong and was always happy. He started a slow decline around 3 months and by 7 months old the feeding nightmare was in full swing. He was diagnosed with acid reflux and was fighting the formula and baby cereal so badly that he would scream when he saw the bottle or his highchair. Feedings would take forever and eventually got to the point of vomiting shortly after eating (when we did finally manage to get him to take some formula). I found a great support group for GA-1 online that was very helpful through these struggles.

His first illness related hospital trip was in July 2012 for a fever and refusal to eat He was admitted shortly after midnight on Friday the 13th. His eating habits were not improving and he was losing weight. He was developmentally delayed in a few areas and his low tone made it difficult to sit up on his own. When they started talking about failure to thrive and feeding tubes I dove into even more research determined to find another option. We met with Early Intervention and scheduled weekly meetings with a dietician, OT twice a week, and later added PT. We had GI appointments and feeding clinicals. His formula was changed to GlutarAde Jr. We traveled 5 hours to the Clinic For Special Children for a second opinion about the diagnosis and the treatment. Part of me was still hoping to hear this was all a huge mistake even though by this point I knew it wasn’t. We switched Ethan’s care to CSC immediately and within a week his feeding was improving and he started gaining weight!

From Stephanie-
During this time, both Mandy (Ethan’s Mom) and I (Noli’s Mom) joined a closed Facebook group for caregivers of people living with GA1.  We connected privately as well.  We discovered, our boys had the same birth day, when admitted to our Children’s Hospitals we were admitted to the same floor 8 East, both our boys began to struggle with feeding at the same time, and we even discovered we share the same wedding anniversary date of October 30 and they look alike!  Oh and did I mention our little babies had the same RARE genetic disorder, GA1, even diagnosed the same day.  Do you have the shivers yet, because I just had them again writing this!  We talked and relied on one another often through messaging and eventually texting too.  We shared are dark times as well as celebrated the triumphs too.  We developed a true friendship with one another. 

Nolan-
From 1 to 2 years of age Nolan continued with illnesses.  He rarely had a hospital stay under one week and usually upwards of 10-14 days each illness which became monthly, sometimes less.  He had the doctors puzzled.  He was evaluated by infectious disease and immunology.  Immunology recognized something was off, they began testing but recommended a solution IVIG (intervenous immunoglobin treatment).  It was scary, there wasn’t any known GA1 child they could find who received the treatment.  IVIG would be administered as an infusion over about 6 hours by IV.  The Genetics team would consider it but were not ready to pull the trigger just yet.  Everyone agreed he had some sort of immunodeficiency but were we overreacting?  Everyone wondered until just before he turned 2.  Nolan was inpatient for yet another illness and though he was on his fluids and had been for 2 days, he took a very quick turn in a very bad way.  Nolan was quickly moved to the PICU and provided a treatment to hopefully avoid a metabolic crisis.  It worked, Nolan had an MRI which showed little changes from his previous MRI.  Shortly thereafter, we started IVIG infusions monthly.  After about 3 months we saw drastic improvement.  After the 4th month we proceeded to go 7 straight months outpatient.  We were all amazed.  It was around this time Noli was granted a Make-A-Wish….

Ethan-
Ethan fought his battles with illness as well.  It was proposed that 2 years of age is when the risk of brain damage decreases as should the hospitalizations. Unfortunately for Ethan, he spent more time in the hospital after he turned 2 than he did his whole first 2 years! In fact, he almost spent his 3rd birthday in the hospital. Ethan was also granted his Make-A-Wish…

From Stephanie-
In September 2014 I received a Facebook message from Mandy, she wanted to nominate Noli for a Make-A-Wish as Ethan had just been granted the same.  I told Mandy, Nolan already had just been granted a wish, just another coincidence in our little world.  I further told Mandy, my family was heading to Disney but had yet to firm up a date.  Mandy said they too requested a trip to Disney.  Can you imagine, could it be, could our wish to have our children, our families meet through Make-A-Wish and Disney?!  I called our Wish Coordinator and asked, what could it hurt to ask if we could have our trips at the same time, right?!  Funny, the Wish Coordinator thought the same, we were both already granted a trip to Disney!  So Make-A-Wish did it, they coordinated our trips, we would go in May, 2015 the same week, we were all going to meet Mickey!!!! 

Mandy and Stephanie talked in the upcoming months, weeks, counted down the days together!  We talked about our anxieties of traveling with Ethan and Noli, the overwhelming feelings we had about going, how would we plan for food, and most of all how excited we were to meet and share a hug!  Upon our arrival (they arrived a day earlier) we met.  We met in the middle of the road, we didn’t cry, we thought we would but instead stood together like old friends.   And the boys after a very quick introduction began to play, like old friends, and we watched and smiled and expressed how even in person the boys looked just alike!  We stood there for over an hour while Ethan and Noli ran, jumped, spoke to each other in a language all their own (really they had a babble language all their own), it was wonderful.   We spent much of the week together.  We laughed, we cried, we had adult beverages, we shared meals, we stayed up late together discussing experiences and treatments, we shared ice cream, we shared park visits, they shared naps, and it was all truly magical.  We even discovered more coincidences, we have the same thirty-one bags, the boys have similar baby blankets from their grandparents, they both still have long beautiful hair and get called girls all the time.  Who would have thought a traditional suburban family would meet a heavy metal rock family and become tightly knit with so many aspects of life yet be so different. Who would have thought we could all become the best of friends and we did.  Mandy and I will have a bond that will forever be unbreakable.  She is the one I could call in my darkest moment and she would just get it, and I would be there the same for her.  Our husbands talk about how crazy we are to live with but admit they too are often scared and crazy too.  And our children will forever have a language they share all their own and their laughter will bring joy to all of us to eternity!  This was truly an amazing and unique experience that we will all treasure.  I can’t express enough the wonderful memories and bonds that were which will last a lifetime!

Nolan-
At 3 years old, Noli still has a blended diet fed through his gtube but eats some and still receives his IVIG every 4 weeks.  He sweats excessively, struggles to maintain regular body temperatures and was recently recommended a cooling vest.  He fatigues easily and requires his naps and full nights sleep. There is some speculation the neuro signal from his brain to his intestines might not exactly be connecting, Noli has a speech delay.  However, happily, Noli runs, jumps with two feet off the ground and plays like any other 3 year old.   We celebrate his milestones with pride.  I still cry on occasion, every once in awhile and am a bit down but more than anything I am happy.  Through the quiet of winter and separation from family and friends over the last few years, my little family has grown stronger than anyone could ever imagine.  I have a bond with my husband and both my children that most mom’s would only dream of and that is the best part of being the mom to Noli, the gifts and blessings far outweigh the tough stuff. 

Ethan-
At 3 years old Ethan is still a very picky eater, with his limitations from his low protein diet it can make feeding very difficult at times. He loves his “special formula that makes him big and strong” It (GlutarAde Essential). His favorite snack is Goldfish (which Noli also loves). He also sweats excessively, fatigues easily and tends to get a little “clumsy” when he needs naps. The winter isolation really takes a toll on us, but it’s worth it to keep him safe. I still cry on occasion too. There are always adjustments to our own “normal” and just when you think you got it all figured … surprise, something new comes up!

All of us-
The best part, all 7 of us,, are so fortunate to have one another!  Even though we are states away we know we have someone to call any time of the day or night.  That’s the power of social media, love and friendship all wrapped up in the world of rare disease.

Mandy, Ethan’s mom
mkoz138@gmail.com  
Ethan’s Enduring Endeavor with GA-1 (Facebook Page)
Elrama, PA
 
Stephanie, Nolan’s mom
Menomonee Falls, Wisconsin
steph.mustin@gmail.com
 
From the Summer 2015 OAA Newsletter