Eli and Evan

Eli and Evan are brothers who were both diagnosed with GM1 Gangliosidosis type 2, in August 2014. They have an older sister, Laya, who is 8 years old. She does not have GM1 and is not a carrier.

Eli was born in March 2009, and progressed pretty normally until about age 18 months. He will be 7 years old in March 2016. At age 2 his development began to slow and gradually regressed. He is currently 6 years old and can no longer walk, is non-verbal, needs a feeding tube and requires full care for all his physical needs. At this time he can hug, laugh with his family, bounce on his knees and eat tiny amounts of certain foods be mouth. When he meets our gaze with eye to eye contact and gives us a sly smile, we are in heaven.

Evan was born in August of 2012, and progressed pretty normally until about age 2. He is currently 3 years old. His progression has slowed and seemed to plateau this year, but he understands and functions at about an 18 month old level. He has severe delay in his development at this time, with fine motor being weaker in relation to his large motor. He is busy, active, very curious, he wears a helmet to protect from falls, he is approximating some words, and loves to play with other kids at home and preschool. We love his hugs and fun adventurous spirit!

The Diagnosis

I was getting in the car to drive to Phoenix which is 2 hours away. Brad was planning on staying home with the kids, so he had already left to go to the park. As I sat in the car ready to leave, I thought about the fact that by the time I got to the temple and did my service, it would be 7:30 or 8:00pm and I was feeling very tired. I wondered if it would be a good idea for me to go and drive home when I was already feeling so exhausted. I changed my mind and decided I would schedule a time to go early in the morning with less risk involved.

I came back inside and started to clean my house. Shortly after, Dr. Aleck (a biochemical Geneticist we had seen in Phoenix, Arizona) called me. He said

"I have a diagnosis for your two boys, but it isn't too good."
I felt excited that we would have a diagnosis and then, "but wait, not Evan too?" He told me they had Gm1 Gangliosidosis late-infantile type, based on the age of onset, probably not the juvenile type. He had to spell it for me as I wrote it down. He explained to me that it was a genetic disease that would only manifest when both parents had the recessive gene and passed it along to their children. With each pregnancy you have a 1 in 4 chance of a child manifesting the disorder. He said Laya was most likely a carrier. He told me that Eli is unable to process a certain Enzyme, so his body stores that enzyme in the spinal chord and brain. Over time it builds up and causes nerve damage.

I asked him what it all meant. He said,

"In terms of prognosis, it is unlikely that he will make it to adulthood."
I paused and my heart sank. He told me he was so sorry that he had to give me this news over the phone. He explained that he thought Evan had it as well and told me we would need to prove it through DNA for both of them, although he was confident in his diagnosis about Eli.

I proceeded to search the internet and cry and search the internet and cry.

I reacted to this news by feeling sad. I stressed myself out by searching the internet late into the night trying to find answers late. I don't remember what I learned but there was a lot of crying and over-analyzing. I couldn't think about much else for days. I was hoping and praying that Evan wouldn't have it, but told God that I would accept whatever happened. I didn't have to wait long for my answer.

A relative of ours is a radiologist and had been helping me tirelessly for the last month and a half trying to help me get this diagnosis for Eli. She helped me get in to see Dr. Aleck months earlier than what we were scheduled for. She told me about a Clinical trial for this disease going on at the University of Minnesota. They are doing Stem Cell tranplants for children who could possibly benefit from them. She encouraged me to email Dr. Aleck and see what he thought about it. I emailed him and instead of emailing me back, he kindly called me later that day to speak with me.

He told me that Dr. Narayanan, a Neurogenetecist in Phoenix who has been conducting a study for families and children with rare genetic disorders, had called him that day. Dr. Narayanan's office had all of our family's blood (we went and saw him back in February), except Laya's and was performing a full DNA genome sequencing study on them, and many other families. He had called Dr. Aleck to tell him that the DNA has proven that Eli and Evan both have the disease. Dr. Aleck told me he was sorry that he had to continually give me bad news over the phone. He encouraged me to look into the stem cell transplant so that we could get all the information we could and then make an educated decision about whether the possible outcome would be worth the risk or not. He proceeded to call my relative and tell her the news as well.

The following days I felt depressed and exhausted emotionally and physically. I continued to tirelessly look up information and ask questions to people who were in a Gangliosidosis Facebook group. It was helpful to have a few long conversations with Brad, family and friends. It helped to write my feelings down and pray and accept. It was helpful to think of how I could make the most of this time I have with my boys and help others who may be in this same situation in the future. I feel now that I have accepted it and am ready to be happy again. I want to enjoy every moment. I know the road will be long, we will have heartbreak and sadness along the way, but we can also be happy. I hope that we will do all we can to stay close to each other and to God.

Brad and I told Laya that Eli and Evan both have this disease. All we said was,

"Evan has GM1 Gangliosidosis just like Eli and in the future he will become a lot more like Eli."
She thought about it for a minute and then said,
"Well maybe Evan won't be quite like Eli."
We again reiterated the fact that Evan would indeed lose the skills and abilities he has. She then said,
"Why do boys always have to have that kind of stuff?"
(She was also thinking about another boy in school who has some intellectual disabilities). We explained it wasn't just a boy thing, but she quickly changed the subject and was back to her happy-go-lucky self again.

She doesn't know anything about the fact that her only two siblings will both most likely be gone from us before she reaches adulthood. We won't share that with her until it becomes very apparent and she is older and better equipped to handle these difficult things.

We have since talked with Laya about the life expectancy of the disorder. At this time she is 8 1/2. When Eli got his surgery for his feeding tube 6 months ago, it became very apparent that he was getting worse. Around that time, I sat down (Marilee) with Laya and told her everything we know about the mortality aspect of the disease. She was sad, but also had some questions. She was also a bit mad about it too. She told me I should have another baby. Not easy to talk about, but it was very nice to get it out in the open. She has seemed to accept what will be will be and is very loving and accepting towards her brothers and anyone who seems a bit different.

Watch the Progression of GM1

Latest Blog Post - Cure GM1 Run Walk, Power of Moms Article and Update on Eli

I thought it about time I updated our blog!!!

As I believe I mentioned before, I am serving on the board of directors for the Cure GM1 Foundation as the secretary. We continue to have regular meetings and are working hard to further the progress towards a cure for GM1 Gangliosidosis. To join our"Friends of Cure GM1"email list, send an email to Marilee@curegm1.org and I'll add you. :) 

This September we've had a Run and Walk for those who Can't...Challenge. (ACure GM1 Run/Walk Challenge) OurTeams have been fantastic and I've been especially touched by the support we've received for #CureGM1TeamEliEvan!
We've raised more than $30,000 this month from this event!! More than I expected! 

Also,I was published on Power of Momson April 6. Here is the link to my article!
https://powerofmoms.com/rising-anticipatory-grief/ I wrote this article back in probably January, and then it wasn't published until April. I still believe all that I wrote, but I want to make it clear, that I don't feel like I've risen above anticipatory grief yet. I am working onrisingabove it. As in, it is a continuous process of rise-ing. I'm not perfect and I grieve often. I believe it is healthy to grieve to a certain extent, but it is also healthy to move forward and do our best to cope and be strong not only for ourselves but for our family. I'm still working on it!

I'm not going to lie, things have been really hard for our family these past 6 months. But there have been a lot of fun and good moments throughout. We had some great quality time with our families this past July in Utah and even though Eli's had more problems, he had a few months of stability with not a lot of symptoms. 

Update on Eli 
Back in April, Eli began to have what I've coined as"Choking Episodes". These choking episodes are caused by thick mucus, saliva, or drool and/or his feeding tubes coming back up (re-flux). In order to understand this, you have to remember that Eli doesn't get any liquid or food by mouth. He is very prone to choking and he has no idea anymore what to do with food/liquid if it is placed in his mouth. His swallowing muscles are very weak. 

April - May/July he continued to choke, often on a daily basis. He is on medication for various things such as drying up excess drool, which was pooling up in his mouth, causing him to choke. But if that medication is too high, it dries him up too much, causing a thickening of his mucus etc, which he can also choke on. He is on a medication for aiding in the speed of his digestion, (which is lackluster at best) because if food is sitting in there too long, it can come up easier.  

We adjusted his feeding schedule, so they were further apart, to give him more time to digest. We also adjusted the amount given at each feeding (lower volume at each feeding) and things got better. During July, August and part of September, he really didn't have anymore problems with choking, until this last week. 

Here is the story I wrote in his journal about the incident that happened two days ago. 

"It was Sunday evening around 6:00. Brad had gone home teaching and I was busy getting the boys ready for bed. We had recently moved bedtime up to 6:30, to give Eli and Evan a chance to fall asleep a little sooner. Eli, especially, has been so groggy and tired in the mornings.
As I came into the living room, with diapers, wipes and pj’s in hand, I noticed Eli was moving a lot in his wheelchair. Jerking his head from side to side. He was clearly agitated. I patted his back a few times and he seemed to be breathing ok, so I began to dress Evan. Eli’s movement and thrashing about didn’t stop, however, it continued to get worse. So I asked Laya to put Evan’s helmet on and watch him while I helped Eli. My strong willed daughter, quickly complied, registering that I really needed her help. Eli began to gasp for air, progressively struggling to breathe. He spit up a few times, but it only made the situation worse. He began to really struggle. I told Laya, “Call Dad, and tell him to come home right away because Eli is choking.” She ran to the phone, gave him a quick call and then herded Evan and the dogs to the backyard.
With feelings of stress mounting in my body, I ran into the pantry to pull out the suction machine. I hadn’t used it for months. I could have sworn I had a tiny tube that I could use to suction out his throat, but I couldn’t find it anywhere! As a last resort, I used a slightly bigger tube that I had. It gagged him, made him throw up, and didn’t really help at all! He continued to choke.
At this point, his face was white, with the bridge of his nose bright red. I thought,“He could die right now, no, no, no”. In a panic, I pulled him out of his chair, leaned him over my lap on the kitchen floor and pounded away at his back. With tears welling up in my eyes, I desperately told Eli to “breathe, just breathe!” I continued, “Breathe Eli, breathe!” Somehow, some way, whatever was choking him (formula that was coming up, thick mucus or saliva or a combination of all three) began to subside. All of the emotion, frustration and pain that he’d been carrying, seemed to come out at that moment. He cried...Eli cried. And he never cries. He doesn’t cry anymore at least, just whines, but in this moment, he cried. He moaned and cried as I held him and cried along with him. I looked toward the back screen door and saw Laya standing there, staring at us from the backyard. She had watched the whole thing. She smiled an awkward, I don’t know how to deal with this, kind of smile. And I plopped down at the kitchen table with Eli in my arms, exhausted.
Brad walked in at this moment and I quickly relayed what had happened, letting all my fears and emotions out along with my explanation. He was sad, stony faced and so sorry that he wasn’t there for us. I felt terrible because I hadn’t been fully prepared for this situation. I didn’t have the right tube to suction out his throat and didn’t have the machine handy. I'd become too relaxed since he hadn’t had problems like this for a while.
Even though the worst was over, it still took more time for him to clear his airway. He continued to swallow audibly, cough, and wiggle in my arms for another 30 minutes. Then finally...I felt him relax….completely drained. I waited until I was sure he was ok and then gently laid him in bed. I turned the baby monitor up loudly in my room, got in the bath and went to bed early. I lay contemplating what could have happened, praying and crying as I fell asleep."

Since this event two days ago, Eli has had 2 more choking episodes. Not as bad as this one, but enough to keep us on our toes. I've already adjusted his feeding schedule and received the proper supplies to have on hand. Not fun!