May 10, 2020

“And we know that all things work together for good to those who love God, to those who are the called according to His purpose.” Romans 8:28

In this particular post, we will be sharing each family member’s feelings after receiving the test results and how we dealt with the news.  We did Sophia’s blood test and it came back indicating that she did in fact have Muscular Dystrophy. So, we ended up doing the genetic blood work for Sophia, John, and I.  

Around the middle of September, we attended an appointment with the genetic doctor (remember her? the one I couldn’t stand) to go over the results of the genetic blood work. She started with, “I have bad news and good news. The good news is that Sophia did not inherit the Muscular Dystrophy from you or John, so Angelina doesn’t need to be tested. The bad news is that Sophia has an extremely rare form of Muscular Dystrophy known as ‘LMNA Muscular Dystrophy’. LMNA is usually inherited, meaning it doesn’t normally come as a result of a gene mutation like it did with Sophia, and generally, when it’s not inherited, it typically affects boys and not girls.” I replied, “talk to me about LMNA. Which part of the body does it affect?” The doctor said, “every muscle in the body from the neck down. Sophia will eventually lose the ability to stand and walk, but the timing will depend on how aggressive the disease is.” 

I broke down really bad (we found out later that there are only 50 recorded cases for LMNA Muscular Dystrophy worldwide and that this type of Muscular Dystrophy was discovered back in 1999). I asked the doctor, “how can this happen?” She asked me, “do you believe in God?” I said, “yes.” She then said, “the mutation of the gene happened when Sophia was developing and only God can control this. The odds of a girl getting this rare type of Muscular Dystrophy without it being inherited from the parents is 1 in several million. But, miracles happen every day and I recommend that you watch a movie called “Miracles From Heaven.” 

The doctor then advised us that we need to come up with a plan, since there is no cure and since every muscle (heart, lungs, jaw muscle, back muscle, etc..) is affected. So, she referred us to a GI (Gastroenterologist) doctor, Cardiologist, Orthopedic Surgeon, Pulmonologist, Pediatric physical therapist and Pediatric Occupational therapist. And that’s how the whole team for Sophia was created. From that day this genetic doctor became my friend. She was there for me every step of this journey. I went home and explained everything to John and more importantly I asked him to get the movie, that she suggested. I was looking for a miracle and hope. We watched the movie and oh boy, that movie really hit home. The story was very similar to ours, the sick child (different disease), the mom that was losing her faith, the dad that was calm and keeping it together through his faith. Now I can say that there is a different ending.  All of us watched the movie together and we all cried together. So, let’s talk about how we felt at this point. Every one of us will be talking about him/herself: 

Nermine: The day I found out about the muscular dystrophy I felt angry, upset, helpless, my heart was broken into pieces. I ran to God and screamed and screamed, hoping He can hear me. I begged Him to forgive me for my sin because I truly believed He was punishing me. Then when I heard about the rare disease I questioned Him why He gave her to me if He knew that this will happen? Why when I cried to Him and asked Him for forgiveness He punished me more with the worst news ever? Where is His mercy? What did Sophia do to deserve this type of life? How will she be when she discovers how disabled she is? Will she lose her faith? How can I answer her when she asks me, “why me?” I asked God why me, my family? If it’s because of something I did then punish me not my kid. There was no response from God, a long period of silence. This whole journey was a struggle between me and God. But I started to discover little by little that He always has a plan. We might not like His plan, but trust me after being in the midst of a burning fiery furnace for 3 years His plan is the best. 

Angelina: Once Sophia was diagnosed, I couldn’t even count the amount of thoughts going through my head. Before Sophia was born, for eight years I had been an only child and always wanted a younger sibling. So, when my mom told me she was diagnosed at just two years old, and I heard everything that came along with the disease, it felt like just when my new reality was finally coming together, everything was now falling apart. The worst part for me was hearing that Sophia’s life expectancy was around 20 years old. The first things that came to mind was everything that I wouldn’t or might not get a chance to do with her. For example, I thought, “what if my future kids don’t get a chance to meet their aunt or only meet her when they’re young?” or “what if she won’t be able to do big activities with me?” However, those weren’t the only things constantly circling in my head. I wanted to know, “why us, our family has no trace of these genes whatsoever?” “what did we do” “why out of the millions of rare chances there are to get this mutation, why Sophia?” “why isn’t she going to get a chance at having a normal life?” The thing I wanted the most was an answer to all of these questions. 

John: “It is what it is.” These words became the most hated words I could ever say to or in front of Nermine. I began questioning myself about how calm and at peace I was about Sophia’s diagnosis. Was I in denial? Was I using my faith as an excuse not to show emotions as a father? Why am I so calm and at peace knowing that my baby’s life was going to come to an early end? Why am I not bothered by the fact that Sophia could never have a “normal” childhood, running with her sister, cousins, and friends? Why was I not worried about how Sophia would survive if anything ever happened to me and/or Nermine? Should I pray to God asking Him to heal Sophia or should I just repeat the words in the Lord’s Prayer – “Thy will be done”? One of the earliest lessons I learned from this journey is that no matter how many times we may repeat something, we don’t necessarily truly believe it. It was Sophia that taught me to look beyond our current situation on earth and look up at what awaits us if we are good. It was through Sophia’s attitude and actions that I began to realize that the answer to “why Sophia? Why us?” was “because you need this.”  

Lessons Learned:

• God does everything for a good reason, even if we don’t know it yet or never know it
• God is the only One who can comfort you in situations like this 

PLEASE NOTE – for all of the “lessons learned”, we did not always see it that way during the events that were occurring which are mentioned in the posts. Many of these lessons were learned weeks, months, or even years later when we looked back and reflected on the circumstances.