A Rare kind of Sibling

The son that I have primarily talked about up to this point is our youngest, the one who is diagnosed with the actual rare disease, as a rare disease is defined in the US. A rare disease in this country is one that affects less than 200,000. He has Addison's and is one of less than approximately 4,000 in the United States. But our older son is rare in his own right, and not just by being the awesome son, brother and young man that he is, but his health is rather complicated too. His health has led me down some interesting and challenging paths as a mother and as an advocate.

This story would start in late fall 2000, expecting our first and excited for an anatomy ultrasound. We had fund out in August that we were expecting and almost right away had shared with family and friends. At this ultrasound we found out we were expecting a boy. Growing up with a younger brother, I had always wished for an older brother - so if we were going to have more than one (which I hoped we would) - I would have wished for a boy first. We were ecstatic!! But then we noticed the look on the doctor's face going over the details after the ultrasound tech had left the room...it was not all good news. My doctor had been my doctor since my teen years, she knew me, knew how badly I/we wanted this child. And I knew her....this look was not what we wanted to see. She explained that it appeared our baby boy had too much fluid on his brain - this could mean all kinds of life altering things. And my mind went to all the worst of them. We went to a specialist who performed a special ultrasound and concluded that the fluid on his brain was not abnormal, and he appeared fine. That was just the first of many health challenges that we would face with our first born...

April 13, 2001 - 3 1/2 weeks early, I became a mom and felt a love I never knew for this boy who won my heart without a word. He was early enough that he did require oxygen intermittently the first few hours of life, as his lungs were not fully developed (this theme will be recurring in this story), but the doctors had well prepared us for that. I worked in an office in the corporate world, a job I had lived and loved since I graduated from college. As a mom, I was stretched thin, but fulfilled as a working mom. Our son though was struggling with many illnesses in daycare. My husband and I traded days off (no virtual work then) when he was sick, grandma and grandpa helped when they could but both were still employed - it was getting hard to juggle. We looked at finances and determined that one of our jobs was primarily paying for daycare, gas to and from work, medical bills, work clothes, etc... - things that would be minimal if one of us left the working world. One of the hardest, yet most rewarding choices I had to make as an adult was leaving the working world right after being offered a promotion I would have dreamed of previously. But my family, and our son, was now my priority.

I would love to say that I made that decision, the illnesses became less and he was 100% healthy for there on out - the end, but that is not the way our story goes....

Within his first year of life on top of the typical illnesses he was exposed to and caught he also got RSV, landing him in the ER with a terrible cough. We took him to seen allergist that said he most certainly had asthma at a very young age. We found a loving home for the cat we had, we got an artificial Christmas tree, I became a cleaning maniac - dusting and vacuuming daily and doing all I could to keep him breathing comfortably. At 13 months he had tubes put in his ears. With all our efforts it seemed we had calmed the storm, so to speak. Not that he did not get sick, but we could go a couple of weeks without a pediatrician appointment and his system got a break from antibiotics! Please note, that while he was not in daycare we did not keep him sheltered or unexposed to other little ones - we were in a mom's group, library story times, zoo classes, anything to get out and with other little ones. Plus, at 23 months he became a big brother!

Then was Halloween of first grade, he was six years old. I cannot tell you what he dressed as, but I promise you that the scare he gave me this day was the scare of my lifetime!! It was an unusually warm October day for trick-or-treating and he enjoyed filling his bag with as much as we would allow a six year old to have! We were winding down for the evening and he started to not feel well very suddenly. He felt warm to the touch and he had an awful bronchial cough that sounds rib-breaking. We tried all the typical things for a fever and cough, he was getting dramatically worse quickly, this was not like other illnesses we had seen in him. I grabbed my keys and purse, my husband buckled him into his booster seat and kissed us both goodbye. I started driving to the nearest children's hospital which was almost 20 minutes away. I explained that was going to keep asking him yes or no questions and needed him to answer (between coughs) - I needed to know he was okay. A few minutes out of the driveway he stopped being able to answer my questions. I told him he just needed to hold my hand, as I drove with one hand on the steering wheel. A short time later, he dropped that hand...

I got off the freeway at the next exit ramp and probably broke every driving law to get to the nearest hospital as fast as possible! We were no longer going to the children's hospital - I just needed someone to help my boy quickly! I got there and ran in holding him sobbing, they grabbed his limp body from me doing vitals right away. His fever was near 104, his pulse oxygen was 98 but his heart rate was somewhere near 180! They got him back to a room as I called my parents to come to the hospital to be with me (and him). X-rays soon confirmed he had pneumonia. They gave him intravenous medications to control the immediate symptoms. Then they called an ambulance to transfer him to the children's hospital where he would be inpatient for three nights healing and recovering from the trauma.

Again, we had years where things were fairly typical, but every upper respiratory virus would hit him extra hard. He would get sicker than others and it would take longer for him to recover. Doctors would try all different inhalers and steroids, nothing really made a difference in the quality of life once something started to irritate his lungs. Once middle school came, allergies seemed to add to the triggers - environmental things like dust, mold, grass, etc....especially at times when seasons were changing.

All of his doctors were closely affiliated with the local children's hospital ( a highly ranked and wonderful facility) and they kept trying the same textbook treatments for asthma, but nothing was helping him long term. Nothing was preventing the onset of symptoms or making the symptoms less severe once they started. I was watching him miss more and more school, athletics were a struggle (cross country and little league) and it was just wearing him down in general. At one point they told me they were throwing everything at him other than the kitchen sink - and I said if they weren't willing to throw the kitchen sink at him I would find someone who would (I did not say that - but did find someone who would think outside the box). I searched for a doctor not affiliated nearly as closely with that hospital, a more independent clinic focused on research. This doctor that I found seriously only worked in our city one morning a week, but I made an appointment and it was life changing.....

This doctor did tests we had never seen before, used terms I had never heard before, had compassion for me and our son and had a plan. He explained that having been born early with lungs not fully developed, having RSV as an infant and pneumonia at six more than likely had caused permanent damage to his lungs. That he had the lungs of a 60 year old, at this time he was 14. He said that his lung disease was much more complicated than asthma, but more like COPD type illness. It was great to have answers, even if the answers were not exactly what we wanted to hear. There were medications that could help and stop progression of the disease, but those medications were only FDA approved for those over 18, because who would need them younger than that? Well, our doctor worked on it and got us the meds that did work to finally improve the quality of life for our oldest. He will say that this doctor saved his life.

When we say that at 14 he had the lungs of a 60 year old, I do want to clarify that it does not mean that 10 years later he would necessarily have the lungs of a 70 year old, his lungs were not aging at that rate. The goal was to keep things where they were. Our son worked hard. In high school he was on cross country and track (only track for one year), but most importantly became a strong swimmer. By the end of freshman year this young man who had never swam competitively was on varsity. More than that though all of the activity was improving his lung capacity - which was up to 115%!! His lung function was still hovering 60% - but at least that 60% was taken from a larger number because of the increased lung capacity. He had maintenance medications and rescue medications, and a nebulizer that he would use when things were really bad. It was not the normal packing list for college, but we would soon be glad that he had it all with him.....