Fear Not

What do we do when we face the unimaginable standing right before us? Something we could have never imagined happening to us is now barreling down like a freight train headed right toward you. What would you do??

In my almost 40 years of life I have had many many chances to decide if I would follow God through bad times or if I would stray and be angry about all the wrongs I felt happened in my life. It’s not God who leaves us…we choose to leave him, ignore him or not acknowledge him. Now, maybe at Christmas we think of him, maybe someone you know needs a prayer and you utter his name before going to bed…who knows…we all have our own journey & I judge no one! I mean normalcy is a good thing and you get wrapped up in it sometimes…

I knew from a very early age that I had an amazing bond with God. Take that however you would like but what it means is that I knew I would try to live a “christ like” life …believing that everything I did would either help or hurt someone and I would try to always help rather than hurt. That has become more prevalent the older I get and sometimes it has hurt me…actually many times it has hurt me, yet I can not change who I am. (“Just because you treat other people a certain way does not mean that others will do the same”) I heard that over & over again from Hut. I always wanted to make sure that if Jesus was standing right in front of me,  he would be proud of what I just did or said. It was never really about pleasing my parents or grandparents or anyone for that matter but it was about making God proud of me.

Now here I am faced with the unimaginable and I have to admit I have questioned…”really God?, you seriously think I can handle this shit, you really think I have MORE lessons to learn?” Although I do not feel I have too much more to learn, I do see the good that has come of this already. Romans 8:28 – And we know that in all things God works for the good of those who love him, who have been called according to his purpose. YES!!! He will make something good of this because I have loved him and will continue to do so!!!

Posted in Diagnosed

After a few days on the rollercoaster I decided to step off and just focus. I refused to allow myself on that ride again! My focus had to become so centered and so present. PRESENT… I never believed I could live there yet the last almost four weeks I have been no place but the present. Actually I lie…fast forward to this week… I was at the bank and I saw a precious little girl with deep brown eyes like Ella, she was probably around seven years old and as she looked at me with those eyes I felt like I was looking at Ella. Will she ever be that age? Will I ever see her grow up? Will she go to the prom? Will she ever have a first kiss? The questions kept going until the tears started and I had to force myself to just STOP!!! No one is guaranteed tomorrow. Not even very healthy people…anything can happen. My grandparents who were two of the most important people of my life would always use the phrase “God willing” I would say “Nana, can you come over next week?” She would say “God willing” AMEN!! NO ONE IS GUARANTEED ANYTHING and we have to remember that. Yes it is more prevalent to someone like me with a “sick child” but we should all remember that.

Rewind to a week and a half ago…The dreaded day was here… I had to get my other kids tested for MLD. I had wrestled with this decision for at least a week and just decided there is some kind of comfort in knowing; whether good or bad at least there was an answer. The kids took the day off from school and we all went to CHOP. We should have been there maybe an hour but it turned into a four-hour trip. Needless to say it was not my day! After we finally saw the doctor and got all the blood work and urine done on the rest of the kids we were finally on our way home. (oh, almost forgot, they took even more blood work on Eli to test to see if any one of his siblings would be a good match for bone marrow) Driving home I got a phone call about Eli’s urine (the true diagnostic test in determining if your child has MLD) They test the urine for sulfatides and if there is sulfatides then it is a pretty open and shut diagnosis of MLD. YES Eli’s urine had sulfatides…Wow! ,That’s  it…the last hope I had, was now washed away. Part of me would have sworn that there was no way he had MLD. Not because I am like “this could not happen to me” because that is not me, I just did not think he matched the disease. I was numb yet again… I could not take much more.

God bless friends because I went straight to a friends and downed a glass or two of wine before heading home to make sure Hut knew the reality of the situation.He was one who kept the hope until the very end…he refused to believe until every single test was back. I did txt him earlier but I assumed he did not read it as he seemed ok when I walked in the door. Well, I told him and he was shocked…mabe not shocked but any hope he had, was now gone with mine.

As we went about our weekend we thought it would be a week till the other results on the kids came back so we just tried to be “normal.: Baseball games, party at a friends, and more baseball. Life was good this weekend! Monday came and normalcy continued…it was nice to not have a doctor appt and to not answer the phone when Duke or Pitt called. I just needed a break!! That break ended quickly as I walked in the door Tuesday afternoon. The phone rang and Eric answered it. As he handed me the phone he told me it was CHOP. “No, the results can’t be back yet” “don’t give me the phone… I don’t want to know” As I got the phone everything slowed down once again. I could see Eric in the dining room, Evan doing homework at the table & Eli & Ella running around. I heard “Mrs. Vivian” I could tell immediately I was on speaker phone which I did not like. Like they needed others there to witness  giving me the bad news…did others need to hear my reaction…did they want to hear the teats and the anguish in my voice? I will never understand that phone call. She said “we got the results back of your children and we wanted to let you know that your Eric & Evan are carriers of the disease” That’s  all I needed to hear… I think I fell to the floor as I knew what was coming next. “I’m sorry Mrs.  Vivian but Ella also has it” I just remember almost passing out, getting back up then falling back down. I could not imagine this would ever really happen. Not one but now two kids with this horrific disease. As I felt like I was hyperventilating I went outside into my garage and called my cousin. I could not speak… I just said “Jenn” and cried. Then I proceeded to kick everything in my garage and break a few things that I don’t even remember breaking. Not but a minute later my poor friend showed up. I can only imagine what she was thinking when she walked in on such a life changing moment. I actually felt bad for the people in my life who loved us so much…they were so sad for the kids/us and it broke my heart.

Fortunately or unfortunately I did not allow myself much time to feel sad as I needed to refocus and come up with a plan!!

Posted in Diagnosed

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.

Posted in Diagnosed

Most of my life I have believed myself to be a pretty strong person…maybe not as strong as some think yet strong enough. I never realized what the word strong meant until these last 3 and a half weeks of my life.

How many of us have thought in our own delusional mind every time our child got a headache that there was a possibility he/she had a brain tumor? Go ahead raise your hand… I know I have over reacted on more than one occasion when it comes to the health of my kids, yet somewhere in me I always felt they would be o.k.

Thursday Sept 27th, 2012 that all changed. I remember when I woke up that day I was so nervous…not so much about what the results of the MRI would be but how Eli would do with sedation. That was my big worry…I wonder if I will ever have such a small worry again. We got to Dupont early and checked in. Hut was with me along with Ella as I did not think we would be there all too long. As the kids colored and waited to go back into the exam room I had no real feelings about the day but I remember texting some family members asking them to say a prayer that the MRI would go o.k., that sedation would be fine and he would tolerate anesthesia well. We were called back and from this moment on I feel like I can remember everything in the last few weeks like it was hyper-reality. Now I will break off here and say this is SO NOT NORMAL for me to remember things so well. You see, for someone who has suffered from anxiety for the last 16 years off and on, living in the present moment was not one thing I was good at. Soooo back to the moment of that day…As we got into the exam room I had the nicest Nurse and the best Nurse Practitioner which eased my mind a bit. As the nurse was examining Eli I spoke to the NP and as she asked me many questions about Eli. I could tell she was truly interested and was listening to everything I had to say. After I explained all the reasons I felt something was “wrong” with Eli, even if just a vague feeling she said “all doctors need to trust a Mothers/parents intuition more.” As Eli was given his “goofy” juice to calm him down for the sedation we sat and talked and played video games on the hospitals new gaming systems that hung over the beds. About an hour passed and they came back in to say they were sorry for the delay but another child needed to get contrast so it would be a bit longer…they said “you would want the same thing done for Eli” I agreed!! The time went pretty quick because he was happy and we just played. They came in to put him to sleep and that was tough because it hurt him as the meds were going in and I don’t like to remember the tears from that moment. I went to meet Hut & Ella for a snack and before we knew it the hour was up. We went back up and after another 30 minutes of them not coming out I got nervous. I started pacing until the nurse came out. I can tell you she did not look happy and neither did everyone else who suddenly would not look at us as they walked by. She informed us that they needed to keep him under another hour to do contrast. I have to admit I lost it… I took Ella out to the playground, paced and called a few people. “what could be wrong” I think I said it 100 times over. “a brain tumor? A lesion? ” I could have never imagined in my wildest dreams what would lay before us. All I wanted to do was see Eli.  I found myself yelling at Ella to hurry off the playground because I wanted to get back in case they were done. As I walked back into the hospital time seemed to slow down and almost stop. It was then that  I realized my life was about to change, I just did not know how much. It was not long after we got back to the waiting room that I thought I should call the neurologist who ordered the MRI to say I would like the results before the weekend…and when she answered the phone before I could get anything out she said “Is this Mrs. Vivian” I thought I was going to die…How did she know it was me? Why was she waiting for me to call? She said” The doctor needs to see you before you leave” Even typing these words takes me back to that dreadful moment. I knew it was BAD! The nurse came back to get us…Eli was out and waiting to wake up. We went and sat by his bed until Dr. Hopkins came walking in to us with a face I will never forget. A face of a semi new neurologist who is getting ready to deliver some pretty bad news to some unexpecting parents. She took us to the “consult” room or as I see it “the bad news room” and before she could speak I said to her “just spit it out, is it a tumor?” She could not speak. I get it…how do you tell someone their child who no one really thought needed an MRI now has a fatal lysosomal storage disorder. So, I forced her to spit it out much quicker than she was ready to but she did. I never cried, I just listened to her tell us that our Son might have a year to live maybe more…no one could know. I walked out and went back to Eli’s bed. I could not get him out of there quick enough. The ride home we were numb…I did not know if Hut was going to have a heart attack right then on the way home but I thought he might. Somehow we made it home. By now most of my friends and family knew,  thanks to modern technology and my journey of research began immediately. Thank goodness for good friends because Eli’s buddy Ethan was there not too long after we got home and for a split second things seemed normal. Question is “Will anything ever be normal again?”

Posted in Diagnosed