Thank You

I wish I had the time to thank every person who has touched our lives!

There have been many friends, family members, neighbors, church members and even strangers who have showed great empathy, kindness and generosity towards us as we've learned about the boys' condition, not to mention throughout our entire lives.

We are humbled by the thoughtfulness of others and to know so many good people in the world.

We wish all the best to you and your families.

Eli in the Kindergarten Community Helpers Parade

 Each year in October, our Elementary school holds a parade where the kindergartners dress up as a community helper and march through the school in a parade.  Eli's teacher, Mrs. Beck, was thinking that Mrs. Bowles would just push Eli in his stroller, but Mrs. Bowles (Eli's Para-pro aide) told her that Eli could do it! I'm so glad she had faith in him, because I was expecting to find him being pushed down the sidewalk and it was so nice to see him walking! Here is a video of Eli in the Parade. It isn't easy for him to push his walker that far, but he makes it to the end with lots of help and cheers from everyone. Great job Eli!!

Appeal decision

Quick Update: Jeanine Utz with the Syner-G program at University of MN tried to put through Zavesca initially, it was denied. They sent in an appeal a few weeks ago. We just received a letter yesterday denying that appeal.

It said, "The reason for denial of your appeal was: Per physician review, current plan criteria only allow coverage of Zavesca for those who are 18 years of age or older with a diagnosis of type 1 Gaucher disease. M. Moore, MD. 11-7-14"

Seems obvious right? We already know that Zavesca is meant for Gaucher disease, that is why this is a clinical trial, to see if it will help, along with the ketogenic diet, for patients with lysosomal disorders.

I got an email today from Jeanine, she told me they would appeal a second time. I believe CVS has 14 days to respond to the appeals, so we'll wait and see what happens. I'm not sure if the insurance will cover it.

Hospice and Seizures

I decided that if I'm going to share, I might as well share. It isn't easy for us, but I'm laying it all out there. When I am searching for stories about other kids' situations and struggles with Gm1, I want to know every detail. So maybe sharing our experiences can educate or help others who are searching for information about this disease.

Hospice 

Dr. Cochran, Eli and Evan's pediatrician told us that she would contact Hospice for us, just so we could meet with them and learn about the program. Dr. Cochran used to be the director for the hospice program here in Tucson, so she knows her stuff and has experience helping many children with terminal illnesses.  

So because of this referral, Denise Freedman RN came over to visit with us earlier this week. She is the head nurse for the children's hospice program. She recommended that we sign up right now and not wait until something bad happens before calling and signing up. She's had many years of experience working with children in this situation and also through Bone Marrow transplants.  In her experience she has seen a number of family say they don't think they need hospice yet and often shortly after she'll get an urgent call, saying they need to sign up right away. She prefers to begin care before they are really bad off and try to treat  illness the best they can and just help along the way. 

She explained that hospice is not just something you get when the children are about to die and you've given up. It is for the support, comfort and aid of the entire family. The program here offers a team of professionals and connections to many resources available in the area; including a medical social worker, a primary registered nurse  who visits the home twice a week, the option to call at any time night or day if there is an emergency, volunteers, a bereavement specialist, and a home health aid, someone who can help with the personal care of the patient.   

I wasn't sure if Eli would qualify at this time, but she said because he has Gm1 and is at risk for aspirating, he would. So after discussing it, Brad and I met with her and signed the paperwork. We signed Evan up as well, so she can check out the both of them during her visits.  

My main concerns at this time are keeping our family relationships strong and close, rather than strained because of the situation, Laya's emotional state and attention,  watching out for seizures and choking with Eli,  and Evan's growing number of falls and hits/cuts to the head. 

Our pediatrician suggested that hospice has volunteers that could come and help Laya with her homework and be a friend to her. Denise said she would begin to set that up. That would help tremendously since Laya has been pushing me away a bit and acting out somewhat. It would be nice to have help with her. Homework has been an issue with her. 

Denise gave me some thickening agent for Eli's liquids that I am now putting into his water or juice I give him, and she will be able to continue to supply it for us. 

She will also begin working to get Evan some services such as a bit of respite care for him and a soft helmet to protect his head when he falls. He is a very busy guy, especially when I am unable to give him my undivided attention. Respite has been great for Eli, but I'm not able to get much done, since I still have Evan with me. He has a short attention span and needs a lot of watching.   

I am so grateful for the hospice program, and even though Eli will likely be with us for a while still, we will have the ability to keep him comfortable and give him the best care, medicine and resources that we have available. It is very comforting to know that I have a personal RN (an amazingly knowledgeable and experienced one at that) who will be checking Eli and Evan twice a week. I hope to learn and glean from their knowledge. It is also comforting to know that I will get help with Evan soon too, and hopefully we can figure out ways to improve his behavior. It is also great to know that Laya will get some attention as well. I wish that all cities had programs like this for their dying children. I feel so grateful.   The Church has also been so supportive and loving and I am grateful that we have that. There are so many families in the ward, as well as fantastic neighbors who I could call for help at any time, and they would answer that call with enthusiasm.
 I hope that I keep a grateful attitude and serve others throughout these upcoming years. There are many who are suffering in different ways and I hope I can have enough love and energy in me to help them out as well.  We all need each other.  

First noticeable seizures 

Eli's nose has been stuffed up and it has worried me a little bit, since I'm not sure how coordinated he is at breathing out of his mouth only at night. So a few nights ago I tried using a Nasal wash that our allergist had recommended for us and the kids. It seemed mildly successful since some gunk did come out, but all the water just rushed down the back of his throat and seemed to really bother him. He cried for a minute after that. I brought him out to the couch with me instead of putting him back into his bed, to keep him upright for a few minutes so he wouldn't choke on the water. He was very tired and lay on me, exhausted. 

Yesterday morning, while Evan was still in bed and Laya already at school, he still seemed to be really congested, so I decided to try the nasal wash again. He was in the bath tub at the time. So I tilted his head to the side and pushed the water through his nostril. Some gunk came out, but again no water came out the other side of his nostril, he was too stuffed up for it to pass all the way through. Immediately I knew something was wrong. He stopped breathing and just sat there, staring off. It was like Eli was gone for a few seconds. It was a really scary thing to see. I began shaking him, hitting his back. I was so confused, he was acting like he couldn't breathe, but he wouldn't choke or respond or anything. I felt terrible that I had done this to him and very scared. Very slowly, he began to move a little bit and somewhat respond. He still didn't cough or anything. I pulled him out of the bath tub and wrapped him up. He seemed to be breathing fine again, but still didn't seem quite himself.  

Nicolle, Eli's Habilitation person, came right after that. I told her what happened and she mentioned that he did seem a little off to her as well. Once Eli was dressed and ready, she sat down with him at the table to feed him breakfast as I took care of Evan. After a little while of feeding him, he just stopped again. He had a blank expression  and his face was turning blue. I ran over to him and yelled at him, and patted his back. After a few seconds of being in his face, he started to cry. He was really upset, scared and confused. Nicolle was crying as well. I just held him close and tried to comfort him, it took longer than usual. Nicolle mentioned afterwards that he clenched his fist right before it happened, which I hadn't seen.  

Nicolle suggested I call the Hospice nurse we had met with. She confirmed with me that it sounded like a seizure that might have been triggered by the body-shocking event of the nasal wash. She told me that he is not coordinated enough for unexpected water coming down the nasal passages and mentioned some other treatments for his congestion. I felt so bad that I had done that too him and am never using one of those with a child again!! She saw him the next day, and said she could tell his nasal passages were very congested, but his lungs sound clear.  

As she was checking Eli out, she did notice him slow down or stair off briefly as few times. I told her that he does that all the time. She thinks those are probably a type of absence seizure. He's probably been having mild ones for quite some time now and I didn't realize it.  

The whole event was very scary for me. I didn't like to see Eli like that. It was like he was just gone for a little bit and acting so strange. Today I felt a strengthening and renewed hope. I just need to hold on and be strong for my family.  

Eli looking cute before church one day. 

Evan likes to play with Eli's helmet, I have actually been putting a small bike helmet on him the past few days, it protected his head from a fall just yesterday!

Mom and Dad and sister Ashley (with little Henry) came to visit. We went to the Phoenix temple open house together. 

Eli came home from school with this cute hat during Dr. Seuss day at school. 

As soon as Laya saw Eli's hat, she got to work on her own. She just had to add the whiskers. 

Not the best Halloween we've had when it comes to costumes, but Eli had fun pushing his walker around the cul-de-sac. I didn't even get a picture of Evan in his cute Cow costume that both Laya and Eli have worn for previous years. I planned on putting it back on him after washing all the candy stain off of it to take a pic of him, but I haven't done it yet! The outfit is clean now, I just need to remember to do it!

 Laya came up with this costume the day before Halloween. At the beginning of the day Laya had a pillow under her shirt with a black belt and a homemade white beard. This is what she looked like at the end of the day! More like an elf than Santa. By the way, have you ever seen anyone dress up as Santa for Halloween? She's quite the individual. 

Evan has found Laya's baby a few times lately and likes to rock it in his arms. It's the cutest thing. He is so good at saying "cheese" as well. The best part about the baby is the pacifier. Evan LOVES pacies. He likes trying to put it in the baby's mouth, with a little help from Mommy.