On July 4, 2007, our attention focused to two little pink lines that signaled that our third child was growing inside of me. We were surprised, to say the least...the first of many reminders that God had a plan for our lives that we were not in control of.
In October, we went to a regularly scheduled OB appt to find out that after having two precious girls, we were having a son. I cried. I wanted a son so badly, and I knew that Jay wanted the same. God had blessed us with a son, and we were delighted. During this appt, we were also told that we shouldn't get worried yet, but the ultrasonographer had found 2 cysts on the baby's brain: bilateral choroid plexus cysts. Isolated, they usually mean absolutely nothing, but our OB had to tell us that in some cases they had been traced to be a marker for Down syndrome. We weren't worried...it was an isolated finding. However, a level II ultrasound was ordered for further review.
A few weeks later, we had the level II ultrasound with doctors we didn't know. We weren't worried, and we suspected that they would tell us that everything was hunky-dory and send us on our way. They didn't. The resident found fluid on the baby's kidneys: bilateral hydronephrosis in conjunction with the choroid plexus cysts. This was another marker for Down syndrome. We were asked to perform an amniocentesis to test the genetic material in the baby's amniotic fluid but declined due to the small risk of miscarriage. We left the office bewildered and heartbroken...and not knowing if our baby boy would have Down syndrome or not. It was a very difficult 4-1/2 months until our child was born.
On February 24, 2008, I woke up with contractions 2 weeks before my due date. It was a Sunday morning, and we decided to make the trek to church, where I spent the majority of the service timing contractions and remembering to breathe through the pain. On the way home, I asked Jay to run me to the hospital. After a few hours, we realized that I was indeed progressing in labor and we would meet our baby boy soon!
Nathan Andrew Ferrell was born at 11:13 on February 24, 2008 weighing 6 lbs 5 oz and being 18-1/2 inches long. He was gorgeous! I would be stretching the truth a little if I told you that I was at ease with him in my arms right after his birth...yes, I was so incredibly thankful and happy to have him, but I spent a good part of the first few minutes looking him over to try to figure out if he was "okay", so to speak. When all was deemed to be normal, we finally breathed a sigh of relief.
We took Nate home and all was very easy and enjoyable for 2 weeks. Jay's parents came for a visit when Nathan was 2 weeks old, and this was about the same time that I had noticed that the little man seemed to be breathing very strangely. After some help from Jay's mom, I decided to take him to the doctor for a quick peek to ease my mind that I was just being a little overly-concerned and out of practice with having a newborn...although, instead of getting this pep-talk, Nathan was almost immediately admitted into our Children's Hospital for signs of respiratory distress and a presumed meningitis diagnosis. After 4 days in the hospital, we were assured that Nathan did not have meningitis, though he did have tachypnea, tachycardia, retractions, prolonged jaundice, and elevated liver function labs. We were sent home with the explanation of "we have no idea what is wrong with your son".
Within the next few weeks, Nathan's pulmonologist diagnosed him with hypotonia and referred him to a neurologist and a physical therapist. Throughout the next few months, Nathan's differential diagnoses included the awful diseases of spinal muscular atrophy, myotonic dystrophy, hepatoblastoma, ataxia telangectasia, carnitine palmotyl transferase, and mitochondrial disease. With the onset of new symptoms, we saw many new specialists and were extremely thankful that our Children's Hospital was just a few short miles from our house.
Due to a number of abnormal lab results (lactic acid, pyruvate, organic and amino acids, etc), it was presumed that Nathan either had a mitochondrial disease or a fatty acid oxidation disorder. Our neurologist referred us to one of the leading mitochondrial doctors in the nation, Dr. John Shoffner in Atlanta, to have a consultation and muscle biopsy performed. After many months of frustration and tears, we felt like God had opened this door up for us.
On November 4th, 2009, our hearts and prayers were both with the presidential election our country was experiencing and with our son who was undergoing surgery and tests that would prove to change our lives. Nathan's muscle biopsy was a lot easier on him than we expected...it was the 3 months of waiting for the results that proved to eat away at our patience and emotions.
On February 2, 2009, we received the results from Nathan's biopsy in the mail. After nearly a year of searching for the root of Nathan's medical issues, and 3 weeks before his first birthday, we received a diagnosis. Nathan did indeed have Mitochondrial Disease, Complex I and III.
We did not expect the wild array of emotions that came with this diagnosis. The relief and excitement of finally figuring out what was wrong with our son was overshadowed by the intense fear of what this diagnosis entailed. This is a chronic, progressive disease, and there is absolutely no way of knowing what may lie ahead of the next corner for Nathan. That fact is crippling at times. But with that, God has given us the grace and strength to enjoy each and every wonderful day he has given us with our precious son...and for each day, we will be thankful.
Nathan is being followed by more specialists than letters in his name...they are all keeping a close eye on how this disease affects each organ in his body. He takes numerous medications all throughout the day to not only help out with his organ dysfunction, but also to hopefully help his mitochondria absorb more nutrients to produce more energy. He has good days where he looks like a normal child exploring the world, and he has "off" days where he sleeps a majority of the day and is generally unwell and exhausted when he is awake. We have learned to change our lives to let him rest when he needs to rest, as this is crucial to his fight against this beast of a disease.
At the day's end, we are thankful. Thankful that God has blessed Nathan into our lives, as we are elated to be given the opportunity to be his parents. Thankful that he seems to have a milder form of this crippling disease than some, for we know it can and possibly will become much worst. Thankful for the opportunity to teach and love three wonderful children about all that God has blessed us with each day...for this love for our children is more than I can ever write about. Thankful for this life...for these children...for this trial...for this love.
Updated video (2010) of Nathan's battle: