Motrin along with his migraine medication if it did. His teacher had gone home with strep throat the day before, so we assumed he was probably getting sick, which brought on the migraine. We gave him the medications which helped but also knocked him out for a few hours. I kept checking on him and he was king of floating in and out of consciousness. Still normal, or so we thought.
At one point when I thought he should start coming around I became very alarmed that he seemed to be incoherent and I knew immediately something was not right. I reached out to stroke his forehead and he was burning up. I took his temperature and it registered at 104°. I immediately called the pediatricians office and rather than have me take him to the emergency room, they told me to bring him in. By the time he saw a doctor he was in a dire situation and he ordered the nurse to call paramedics. The initial diagnosis was Spinal Meningitis. This was the third doctor to see him and he was very abrupt with us and even scolded us for letting him get so sick before bringing him in. We had been following doctors orders all along and we were very frightened at this point.
As he was being transported by ambulance to Children’s Hospital in San Diego, the paramedics told me that he was stable. They didn’t even drive over the speed limit or use their siren, but by the time we arrived and Sawyer was admitted he was on complete life support and in a medicated coma. That was on March 23, 2003.
Nobody had any idea what was wrong with him. They inserted an external shunt in his skull as his brain had swollen so severely that the spinal fluid wasn’t able to drain out on it’s own and this was causing great pressure. They did a CAT scan which revealed he had an accumulation of white matter, but no one really new what that meant in regard to his condition or what may be the cause. Over the next several days many specialists were in and out of his room asking us all kinds of questions. We thought it could be a reaction to a spider bit, an allergic reaction to the medications, many things crossed our minds, but never ALD. We had never heard of it, nor had many of the specialists that were treating him.
We met with endocrinologists, doctors of rare diseases, of infectious diseases, neurologists, neurosurgeons, interns, fellows, geneticists. Blood was drawn and sent out for analysis and we waited. Sawyer was on IV’s for fluids, for medications, and sodium. He was on monitors for blood pressure, heart rate, brain pressure, intubation. It was like being in a control center with alarms going off all the time. He had around the clock private nursing care and thankfully, they allowed me to stay in his room and to assist when possible. Finally on the fifth day they began lowering his medication and eased him back into consciousness. We had no idea how he would do or how would be but we remained optimistic. And over the next several days, to our surprise and amazement, Sawyer came back. We would get to take our baby home again.
Once off of life support they performed an MRI to get a better look at the white matter. By then we could tell that the neurologist was leaning toward a diagnosis, but he wasn’t saying what it was. Finally at our urging he told us about adrenoleukodystrophy, how it is a genetic disease and that he was born with it. I refused to believe that my son could possibly have a terminal illness that offered no treatment options. That he could be in a complete vegetative state within six months to two years. That he would die.
Sawyer spent 12 days in the hospital and on the final day, April 2, results from the blood test along with the MRI confirmed the diagnosis of adrenoleukodystrophy. The trauma that brought him to the hospital was what they call an addisonian crisis from adrenal insufficiency. The migraine headaches were caused in part because of this and because of the damage to the myelin sheath in his brain. His neurologist described the brain demyelination as extensive and his prognosis would be rapid decline. He believed his condition was too far progressed for a Bone Marrow Transplant. It was just so inconceivable. All I wanted to do was take my little boy home. And to this day I try and remind myself that we were able to have him back, even though temporarily so.
From that day on everything started going in slow motion. It took all day to get the release papers and remove the IV’s that had been stitched into his chest and leg. Once home, we began researching our options including Bone Marrow Transplantation. One thing we did know for sure, time was of the essence and we were not going to just do nothing. Unfortunately, the medical field doesn’t work that way. It took us a month to get an evaluation scheduled for the Bone Marrow Donor status for the immediate family, however why they even tested me and my daughter who are both carriers I will never understand. It was another month to get the neuropsyche test scheduled, which by then he not only failed, but also ended up in the hospital again with another addisonian crisis. It took too long to see the Endocrinologist and again too long to get a referral and an appointment to see a Metabolic Doctor. At that point I knew that if I could help other families avoid going through this frustration and desperation to get answers and treatment for their child, then that would be my mission in life.
As I educated myself about ALD I quickly came to the realization that Sawyer had several symptoms of the disease by the age of 2 ½. He was born with an undescended testicle that surgically fixed at one year of age. He was diagnosed with Strabismus and had surgery for that when he was 4. And over the last year he seemed to tire easily and was sort of clumsy. Nothing too out of the ordinary for a little boy, but I wish it would have seemed so to at least one of his doctors. After all, a simple blood test is all it would have taken if only one had been ordered sooner.
After resting up from the hospitalization Sawyer was able to return to school. It did not take long, however, for us to notice a steady decline. He was having more difficulty with his memory and vision. He continued to play Little League Baseball but would often forget which way to run or which dugout to head to. We began monitoring him very closely so he would not get hurt. We planned a trip to Nuevo Vallarta and had a wonderful time swimming, boogie-boarding, and snorkeling. He did great on that trip and no one who saw him would have guessed he had a terminal illness.
Sawyer became enthralled with swimming as it was one of the few things he could do anymore without assistance. We put in an above ground pool and that became his freedom, hi solace, his therapy. I also bought him a punching bag and inflatable gloves for both of us and worked out a lot of anger and had a lot of fun duking it out. It was amazing how much joy he could still get out of life. He was truly an inspiration to all who knew him.
During this time I continually searched for possible treatments. I spent hours on the Internet and on the phone. We tried many natural supplements to help support his body and took him to acupuncturist. He never looked sick and in fact was very strong and continued to grow like any normal eight year old. But it was all too evident that his brain was being destroyed as we watched him decline more and more every day. We would ask ourselves every day if Sawyer was the same, better or worse and worse became the only answer.
We took a family vacation to see his step-sister get married in Washington in June which delighted Sawyer as he was the ring bearer. He needed help maneuvering the aisle, but he was so proud and so handsome in his suit. Near the end of July we the Make A Wish Foundation sent us to Maui, Hawaii and although we tried to enjoy it, it was a very difficult trip for him. Not long after our return Sawyer ended up in the hospital once again. That was when we really started losing him. He came home the next day but we were not prepared for the changes that would come. He began having delusions and psychotic episodes which at first were sporadic, but continually worsened until we had no choice but to medicate him for his own good. The medications took a whole other toll on him and over the next several weeks he completely lost his ability to see speak, hear or walk.
With the help of the San Diego hospice I cared for him in our home where he passed away on September 30, 2003 with his family by his side. Sawyer’s courage and determination set an example for us all and we will forever be blessed for his presence and driven by his influences on us.