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 - Evan's Dental Work

On February 16th Evan had dental work done under general anesthesia. Because of a bad fall last year on the
steps of the Tucson Children's Museum where fell on his mouth, he had an infection/abscess above his top middle teeth.
The plan was to take out the top two teeth affected by the abscess and take care of any cavities in his molars.
The dentist is a special needs dentist and I realize now that he doesn't mess around! You'll see below.
Now there is no chance Evan will have problems with his teeth in the future!

His surgery was done at UMC. It was scheduled for 2pm, so he couldn't eat anything that day except clear liquids until
11am and nothing after that. He did much better than I expected without food. He had 3 popsicles and grape juice which
was allowed. Then I didn't give him anything after 11:15am.

Evan is super friendly!!
We arrived a little before 12:30 to do paperwork and sign in. Evan and I walked around for a while. He was pretty tired
and hungry but still loved to walk up to perfect strangers, usually nice looking ladies over 40 or 50. He would just walk
right up to them and try to crawl into their lap. We talked to a large family who was waiting for their relative. They were
loud, boisterous and very friendly. Evan kept going up to one lady in their group. They asked me a little about Evan and
later while Evan was back in surgery, two of them, separately, went out of their way to say goodbye to me and wish me
luck with Evan. I was struck by their thoughtfulness!

Mr. Nature's Music Garden- MrNaturesMusicGarden.com does Celebrations, Playgroups, Events, Classrooms

Music Time
We then went out to the diamond children's lobby to wait and met a man with his guitar who was about to go around
the rooms singing to the kids. He played and sang a"made up song"about Evan. Evan clapped approvingly. It was nice
of him to stop and sing to Evan when I know he was on his way out.

Getting Fussy
Evan then attempted to run (or quickly walk) out the sliding doors and into the street multiple times, so I put him in his
stroller and pushed him around. At this point he was getting pretty cranky and kept saying”ka ka” for cracker/food, but
all things considered was being SO patient. There were enough people to watch that it was distracting him. Finally
around1:45 we were called back.

In the PreOp Area

Even was bouncing on the hospital bed while I was holding him and all the nurses thought he was a wild monkey.
He was very restless and tired and hungry so I just kept doing what I could to keep him happy in the pre-op area.
We walked up and down the hallway, I pushed him in the chair, he bounced in my arms and I held him. And then finally
the doctor came back to prep us. They were going to wheel him in the bed by himself, but I told them that wouldn't
work and he'd end up over the side and on the ground. So the nurse got in the bed with him to hold him and he was
super happy as they wheeled him back.

Post Op
While I was waiting in the surgery waiting room, an op nurse called me (shortly after they started) to tell me that they
were going to have to take all four of his top feet teeth rather than just the two because they were all infected by the
abscess.The dental work lasted less than an hour, surprising since he did so much to his teeth! After the surgery they
called me back. As I walked in, I saw him laying there with the oxygen mask on his face. As a mother, it's always hard to
see your child in that sort of state. Eli has gone under general anesthesia probably four times and Evan has three times.
So even though I've seen this before, multiple times, it's always still a shock when you come around the corner and see
him passed out that way. He was pretty out of it when I got there and continued to sleep for a little while. It was a shock
to see his gums since all four of his front top teeth were gone and then all 8 of his molars were completely encased in
silver crowns. He looked so different and crazy. Hopefully his gums will heal and even out over time and it won't be so
scary looking. His best feature, his smile, is ruined! :)

Waking up
As he woke up, he cried, a really sad :-( cry. He was pretty miserable so the nurses gave him some pain medication,
but I kind of wish they hadn't, it was heavy stuff and he didn't react well to it. He fell right back to sleep and was
basically out of it the entire rest of the day. He never ate, drank or looked me in the eyes for the rest of the day and
slept a lot. Going under anesthesia just really seems to affect the boys even more than some of the other kids I see
in post op. I just think they neurologically can't handle it well. Since he had dental work, there was a lot of gunk in
his throat and he was coughing up blood and having a really hard time....crying and whining every time he was awake.
They wanted to keep him there until he was awake and drinking, so we probably stayed for another hour because he
was not drinking or responding to anything. But since I told them that the boys have never cooperated or felt good until
they got home and his breathing was becoming more regular, they allowed us to go home.

At Home
He basically slept on my chest the entire rest of the day. He would wake up from time to time and start coughing up
blood, mildly choking, and then he would fall back to sleep. I held him for a long time until I was too tired to hold him
anymore and decided that he was healthy enough to lay in his bed. There was more than one moment during the
evening when Eli and Evan were both choking at the same time, that was difficult. It's hard enough to have one child
who is struggling but we couldn't handle two struggling at the same time! It's just too much. We were all tired as we
fell asleep that night. Evan never would eat or drank anything that day.

The Next Morning
The next morning he got up at his usual time, didn't even really sleep in that long, and was extremely hungry and
thirsty. He was acting normal, which made me really happy. I was so happy to see him looking me in the eyes again,
eating food and and wanting more and more. He hasn't seemed to notice that his teeth are gone, but there is a lot
more room for his pacifier! :)