A Rare Lung Disease journey begins

Julia was born a healthy full-term baby on June 26, 2001. Somewhere around her fifth month of life she started having trouble. We were in and out of the pediatrician’s office at least once a month with some sort of “cold” for almost two years. It was finally discussed that Julia’s chest was not growing properly and that could be a reason for all the illnesses. What started out as a simple check into Julia’s sunken chest, (Pectus Excavatum), in December 2003 developed into a much larger ordeal. The pectus, we were told, would have to wait; Julia had a very rare lung disease. We were in total shock and were very angry with that doctor. When we asked for information he simply said "there is not a lot of information known and what I do have is very scientific and you are going to be more interested in the emotional aspect of this disease"
We immediately sought a second opinion. I had to basically have an argument with our pediatrician over getting one. He wanted to send us to one of the other doctor's fellows. I did my research and discovered who was writing all the articles on this rare lung disease in children. We headed to Ft. Worth where we met with a doctor who had at least had seen a patient with chILD. Yes we still got the "hmm this is an interesting case", but at least we were meeting with someone who wasn't going to immediately schedule surgery on our 2yr old. She in fact told us if it came down to needing a lung biopsy she would send us to Texas Children's for the top chILD doctor to do it.
Doctors and other medical personnel did countless blood tests requiring painful needle sticks for Julia, numerous x-rays, two different CAT scans, swallowing tests, sleep studies, T & A removal, neurological testing, hearing testing, eyes tested, and 2 pH probes which revealed that Julia also has GERD, or acid reflux disease, upper GI and lower GI testing. Doctors said they “think” the acid has been silently aspirating into her lungs and caused her lung condition. Or, when she was around five months old, she caught a common cold virus, RSV. For some unknown reason, the virus caused a “lung injury”, meaning the lung tissue around the very small airways and the air sacs became inflamed, then scarred, and have stayed that way. Much like a deep cut with stitches on your skin does. Even after it has healed the scar remains. The latest research (June 2008) is now indicating that Julia’s form of chILD called NEHI which is short for Neuroendrocrine Hyperplasia of Infancy could be heredity. This scarring can cause decreased oxygen levels, a rapid breathing rate, exercise intolerance, heat intolerance, severe allergies to particles in the air; especially cigarette smoke or pollen; crackle or “Velcro” chest sounds, and poor appetite, which can all cause difficulty with growth and weight gain. Julia has for a long time been well below the normal growth charts.
Julia’s lung condition falls under an umbrella of a rare and complex category of lung disorders named Children’s Interstitial Lung Disease or “chILD”. There are a number of lung conditions associated with chILD. The severity of the disease has a wide range. We are extremely grateful Julia is alive and maintains a fairly normal childhood, because Julia has a mild form of chILD. Hers is manageable with medicines. Unfortunately, some children are not as lucky as Julia. Some children die of this disease within a few months of life. We have personally known three such children who have lost their battle with this lousy disease. Some long to play freely with their friends without being tethered to an oxygen tank. Some parents sit, wait, and hope for a new set of lungs through a transplant, and then pray their child’s fragile body will accept them. There are still others whose parents just want to know what lies ahead for their child as they live with a chronic lung disease. Will they make it to kindergarten? Will they make it through high school or college? Will they marry and have children? Will they even make it through the night? Will this breathe be their last.
As parents, the most frustrating aspect of this disease has been the lack of scientific data and studies on this type of condition in children. There are no standard medical evaluations, no proven or studied treatments, no patient registry, and no standards for caring for kids with these life threatening conditions. All too often parents faced with caring for a very sick child are given the answers of, “We just don’t know.” Children’s Interstitial Lung Disease is very rare, complex, diverse, frequently misdiagnosed and quite frankly has been neglected in the medical community.
The chILD foundation consists of families much like us. They are busy just like the rest of us. We have full-time jobs, as well as the added responsibility of caring for a chronically ill child, yet we still volunteer our time and energy to the foundation in order to do what we can to help our children. The mission of the foundation is to provide support, education, and hope to families affected with chILD, to advocate and to raise funds for more scientific research.
God willing, Julia will not be going to school with an oxygen tank attached to her face everyday. There will be days when she does not look or feel well though and will have her oxygen with her. We will ask that parents and teachers talk to the children about the importance of hand washing and covering their mouths with their shirt or a tissue when they sneeze or cough. A simple sniffle to you or your child can mean days out of school or possible hospitalization for children like Julia. For some it can even mean death.
As the age ranges and cases grow in the number of sufferers, there seems to be little growth in understanding of the illness and those who fight it. The biggest challenge, I've found, is not the strangers I meet each day who might ask questions, but those people who see my daughter everyday and seem forget she has a chronic lung issue. Someone mentioned being told, “They don’t look sick." Trying to explain the disease over and over again with what little knowledge we do have is like trying to explain astrophysics to a group of toddlers. This disease is as diverse as the selection of paint colors to choose from at the store is. Each case is so different yet the same in many ways. I feel helpless to assist those around me who are dealing with this. It is like being shot in the heart with a hole left. Yet, unlike Humpty Dumpy, there are no king’s horses to put it back together.
The doctors don’t know much either. There are only handful centers in the world that are truly qualified to treat our children. I have heard the dishearten news of many pediatricians reading an article, and considering themselves up-to-date on the illness. I know many parents who are just tired of their child being a guinea pig for all to observe. They grow tired of being told they are just overreacting. Yet, these same parents drive on, taking their child to ever medical person known because the previous doctors just “Didn’t know”.It is hard to have a lot of hope in the medical community that doesn’t understand your child or the hard road you travel. Doctors familiar with the disease still don't fully understand it. Research is a slim chance of hope with so little funds being sent for that research. The only way we have is to push ourselves further along at every pass, realizing our grace is in our strength and knowing we aren't alone in all of this. This disease put us all in a group we didn't want to belong to, but we can use it to make us strong. We can talk with anyone who will listen and we can put our energies into trying to be heard, instead of crying over no one listening. The choice, as with any illness, is the will you have within you, to either keep moving in life the best you can or sitting down and giving up. Yes, there will be times when all you can do is sit down and cry, but choose to get up again, too.
I encourage all of the families dealing with chronic illnesses to “keep on trucking”. You are all wonderful parents and are stronger than you realize. Many complications may arise and things might seem so terribly wrong and you may want to just give up. I have seen the spirit of determination in your will. All of us possess the unique and wonderful capability to see a challenge. Remember sometimes one plan moves slower than others. Sometimes they creep and crawl in small steps along the path of life. But so do caterpillars, and look what they become.
If you are interested in learning more about chILDren’s Interstitial Lung Disease feel free to ask me or even Julia. The only dumb question is the one that was never asked. We in fact perfer you ask questions rather than stare at us. You can also learn more by visiting The chILD Foundation’s website at www.childfoundation.us. Donations can be made via credit card there as well.
The best thing you can do for us is to help us spread the word about chILDren’s Interstitial Lung Disease. Networking is the key in today’s society. One person alone can not be heard when it comes to advocacy, it takes many voices to be heard in this vast world.