Ride of my life
As you can imagine, it took me quite some time to deal with the fact that this was real and not a nightmare. It did not take long before life started right back up and fortunately for our family at this point Hut & I were the only ones who knew anything. We knew we had to talk to Eric & Evan but when? How? How do you tell them that their brother was just diagnosed with this horrific disease that would probably take his life? First I had to do all the research I could on Metachromatic Leukodystrophy. I have to admit, it was SCARY!! Fatal, crippling, blindness, seizures, vegetative state and the worst..no cure. These are just a few of the horrible things I read just in the first day or so. Through all of this, I was ignoring one of the most important things though…THIS IS GENETIC and all my kids needed to be tested! I just could not deal with this quite yet.
In the following days some great people introduced me to some well-known doctors at CHOP. After receiving an e-mail address for one of the best know metabolic doctors at CHOP we soon began corresponding about Eli. He was very quick to share that through MRI alone you CAN NOT diagnose MLD. “It could be one of 1000 things” Those were his words and I clung to them like they were glue! He recommended that we make an appointment with one of his colleagues immediately. “Thank God” I thought maybe we will find out it is something else. We quickly got in with another metabolic specialist along with a genetic counselor. The day of our appointment I remember checking Eli in thinking “maybe this is a mistake, please God let this be a mistake and I will have learned so much already” The doctor was so nice and immediately she also informed us that it could be over 1000 different things! WOW!! She is saying the same thing that the other doctor said! YES!!!! She examined Eli and although she noticed the slight tremor and some other minor things she thought that in her opinion this was NOT MLD!!!(here come) I let my guard down for a moment and the tears fell. I quickly stopped when Eli came and gave me a hug on seeing me cry. She was so sure it was something he was born with or a mitochondrial disease that she ordered another nine vials of blood to be drawn. We walked out of her office and headed to the lab where I looked at Hut and said “What do you think” He refused to get too high or too low as that is how he has always lived his life. (Lucky him) I tend to be just the opposite. God Bless Eli, he watched “his blood get sucked” and we were on our way for an ice cream at the gift shop. Here comes Toys R Us!
On the way to the store to get yet another wrestler I texted our family doctor to see if the blood work was back (the blood work is another diagnostic tool used in testing for MLD. There is a specific enzyme they are looking for; or lack thereof) This is the blood that was taken when we were at Dupont. He txted back saying that he was with patients. I got a bad feeling. As we were walking out of Toys R Us my cell rang and I threw it to Hut. I could not bare to answer and hear the news. Eli & I got in the back of the car and as I was taking his wrestling belt out of the package I looked at Hut and listened…”yes, o.k., o.k., I see”, I remember just spitting it out “DOES HE HAVE IT?!!!! He just shook his head yes. The world stopped …just an hour ago we were being told that our Son probably did not have this disease and now Yes he does!! Seriously!!!!! What the F%#@!!!!
We got home and I was still in shock…life was good for Eli & I wanted to keep it that way for as long as I could. Time to get my ass in gear and do as much as I could to save my son’s life. I WILL NOT STOP!! I could not imagine how strong I would have to be to deal with this but I would try…little did I know, this was just the beginning and the strength I thought I had would have to double in the next week.
Fear Not 
prayers for your warriors. Please contact me if you need anything….specific or non-specific.
Thanks so much!!
Our thoughts and prayers are with you Becky and Hut,We hope that through all of these prayers that a miracle will happen and Eli will be healed and that Ella won’t get it.This is your worst nightmare ,but you have a lot of family and friends who are willing to help in any way we can,we love you,be strong !!!!!!
Thank you Donna! We appreciate the prayers! Ella does have it also …but we are waiting to see if they will be accepted in the Milan clinical trial! Keep praying! Xoxo
Thanks for sharing your journey!
Thank you for following! xoxo
Becky, I don’t know you personally, but I heard of Eli’s story through my brother Mike and sister in law Staci Aquilante. Every night my husband and I say prayers with our three children (Gianna 8, Gabriella 6, and Johnny 4). The night I heard of Eli’s story I told my kids before we said our prayers Eli’s story (it was hard to explain to them being so young, so I basically told them there is a little boy and his name was Eli and he was sick so we were going to pray for him every night that God heals him). So every night since then we have been praying for Eli, we started praying for Ella once I read that she tested positive too. I told my kids Ella was Eli’s little sister and she was also sick. Tonight by chance, I took my three kids to Dick’s Sporting Goods for my girls to pick out sneakers. When we couldn’t find their sizes in the sneakers they liked we turned around to leave. As we were walking out, I looked over at a man helping a little boy try on new sneakers and heard him say, “alright buddy try and run in the sneakers and let me know if they make you super fast”, as I looked over I IMMEDIATELY noticed that little boy was Eli!!!!!! I turned to your husband and said, “Is that Eli?” He looked at me and just smiled and said, “yes, this is Eli”. I am not going to lie to you, my eyes started to fill up with tears. Eli has the SWEETEST face ever!!!!! He said, hello to me and my three kids. I introduced myself to your husband and said we have been praying for Eli and Ella every night. I told him of this miracle prayer I got in the mail and the story of how I received it. I told him I would share it with your family. So I will do that at the end of this post. As your husband and I were talking about Eli and Ella, little Eli was running down the race track in Dicks with my three kids having a blast and as I saw him and turned to your husband, my exact thoughts came out of your husbands mouths, “you would never even know looking at him that something is wrong”. Again, my eyes were filling up with tears. After talking to your husband for a while and my kids playing with sweet little Eli, we said Goodbye. I couldn’t help but pray as we were walking out of Dicks that God heals your sweet little boy. We got out in the car and tears just started strolling down my face. As I was helping the kids in the car, they asked why I was crying. I said, that little boy you were just playing with is the little boy Eli we have been praying for, my 4 year old turned to me and said, “mommy, you mean “Eli and Ella?” Again, tears just started rolling down my face. I was so happy that my kids got to meet your sweet little Eli and remembered that he was the little boy we have been praying for every night. My 8 year old Gianna said, “mom, he was so nice, I asked him his name and he said, Eli”. Tonight as we sat down to say our prayers, after saying our prayers, we always say, “God Bless Mommy, Daddy, Gianna, Gabriella, Johnny followed by grandparents, aunts, uncles and cousins” Well tonight was different, the first person my three kids said tonight after us saying “God Bless” was Eli and Ella. I just looked at them and smiled. After meeting your sweet little Eli for the first time, he made an impact on my three children, he has the face of an angel that they will never forget. We will continue to pray for Eli and Ella every night, we feel blessed we met your husband Hut and sweet little Eli tonight. Here is the miracle prayer I wanted to share with you, as I was reading about St. Anthony, it’s so ironic that his work took place in Italy!!!! I hope reading this story about St. Anthony and saying his prayer will continue to give you the Faith to BELIEVE in MIRACLES!!! God Bless Eli and Ella!!!
http://www.stanthonyfrankfort.com/Our%20Patron%20Saint.html
Becky and Hut. Thinking of u and ur family every day. Crossing my fingers that both kids get accepted into the study. Stay strong. U r doing an amazing job so far.
My heart is hurting for your family. I can’t even imagine what your family is going through at this time! I pray for you all daily. Eli & Ella are in God’s hands. He’s got a plan & our failth helps us to beleive that everything will work out for all involved in this tragic situation. Praying for your family always.
Praying. Praying. Praying. xoxo
I am praying for your family, my son was diagnosed with Adrenoleukodystrophy at the age of 25. He seemed to have a normal child hood but became sick at the age of 21. My heart goes out to you. My other 2 kids have tested negative and i cant imagine having more them one with a disease like this. Keep the faith God is good and he loves your children very much.
Becky and Hut our family prays every day for you. There are many prayers heading your way and this will continue to give you strength to fight for your kiddos!
You are amazing parents! Keep it going!
With heartfelt love.
I cannot even imagine what you are going through. I as a parent know this is your worst nightmare. Anything at all I could help with…
Our prayers go to you and your family.
Love Tawby Tim Sarah and Morgan
Thank you Tawby!! Just believe we will all get to Milan! Xoxo Becky