Friday, April 6, 2012

Another Piece of the Puzzle

Something has been bothering me; actually I’ve felt really guilty about it. That “something” is the fact that in addition to Autism Awareness Month it is also Primary Immune Deficiency Awareness Month. By letting you focus on autism, and only autism, when you think about me or my family is kind of like giving you part of a book to read and then letting you guess the rest. Maybe you are thinking that autism sure is challenging or that autism is challenging but it comes with some pretty big rewards. But it is only part of the story in our household. Long before autism was in the house, a primary immune deficiency lived here.

Some of the pidd (primary immune deficiency disorder) story is the same as autism…no known cause and currently no cure. Severity, outcome, and treatment is a spectrum and varies widely from person to person. Statistically though the numbers look very different. Whereas 1 in 88 individuals are diagnosed with autism, only 1 in 25,000 to 50,000 are diagnosed with a pidd although that number may be artificially low since diagnosis often takes years, and a skilled or knowledgeable doctor who thinks to look.

Someone with a pidd will experience an above average number of infections each year and will often have difficulty recovering from an infection. In many cases multiple courses of antibiotics and perhaps IV antibiotics will be necessary to recover. In our case, Ryley developed RSV (respiratory syncytial virus) when she was 3 months old. Doctors told us she would recover, that it was serious but common in babies. A few months later, they told us some babies had lingering respiratory symptoms for a while, and that she might experience breathing difficulty when she caught a cold or virus. And so it went…one infection, then another. We were also racking up the diagnoses….reactive airway disease, asthma, upper acid reflux, irritable bowel, skin rashes, and so on. Her first surgery was shortly after her first birthday to take out her adenoids. A few months later her tonsils came out and tubes went in. Nothing was helping and honestly I was feeling like a failure as a mother. No one smoked and she wasn’t in day care. What was the problem?

Then she was in the ER for a virus and picked up an early case of SARS (don’t remember SARS? Don’t worry, most don’t. It was a virus coming out of China and apparently there was a baby girl in the ER who had just been adopted from China. We had picked up the virus by passing in the hallway….should have been impossible but we were positive). Around this time she was hospitalized and lost all ability to walk or even sit up by herself. Late one night sitting in Columbus Children’s Hospital doctors told me the best thing I could do was go home, plan her funeral, and move on with life. I was totally and completely devastated but they were the doctors, the experts, what could I do.

They dismissed Ryley a few days later and for some reason she didn’t want to change out of the hospital pajamas. Don’t ask me why, but she threw the mother of all fits. I could barely carry her screaming and kicking out of the hospital. The nurses were terrified that I was going to drop her and finally they gave us the pajamas to take home. In the moment I realized that if she was going to fight that hard over something as simple as comfy pajamas, then I sure as heck was going to fight like heck for her life. She wasn’t giving up then I wasn’t either.

Fast forward a few weeks and she came down with a disease that she had been vaccinated against—this was the second time this had happened. This set off flags for our doctors who began investigating her immune system and we eventually were given the diagnosis of Common Variable Immune Deficiency. Finally we had an answer—finally we had an umbrella disease that explained all of the other diagnoses that she had and finally we had hope. Little did I know what a road or fight we were in for. Every infection is potentially a deadly one. At 11 Ryley takes a dozen or more meds a day, has had 13 surgeries, and has been hospitalized more times than I can count. The child can tell you what size IV needles work best for her as well as flow rates that will and won’t work. She spent a year having pieces of her ear tissue cut out each and every week without sedation or numbing medications because she had developed an antibiotic resistant form of staph (MRSA). She will be having surgery 14 in June to try to repair for the 2nd time her ear drum that is still disintegrating as a result of damage from that infection.

Ryley is amazing though. Because she knows the full pain and misery range, the kid is tough. She handles minor things like a broken bone or sprained neck without flinching because it is all relative to her. She is outgoing, friendly, and generally embraces life even though once a month she is in the hospital for a treatment that requires serious pre-medications, has horrific side effects for her, and that she’ll need to do for the rest of her life. She deals so much better than most adults I know, and she isn’t afraid of life even though she very well could be.

This disorder is rare, but wouldn’t you know we have it times two. We’ve been monitoring Caden since he was about 3 months old—the similarities are eerie. There are of course some differences. Ryley has taken antibiotics on a daily basis since she was 4. Caden is quickly developing allergies to antibiotics—so far he can’t tolerate penicillin or sulfa based antibiotics so we’ve skipped the prophylactic route with him. He has already started on the monthly IV treatments although he doesn’t seem to experience the same side effects as his big sister. As you can imagine autism and sensory processing disorders offer their own challenges to the process. We start the day out by going to “Old McDonalds”, Caden likes to time on his ipad how long the IV process takes, there are presents, and both have favorites that they order off of the menu. We take a full size suitcase to make sure that both are as comfortable as they possibly can. Infusions take up to 10 hours and the days are horrifically long but I figure if it sucks for us, it sucks even more for them.

I try really hard not to overly focus on the life threatening disease part but it’s hard when you’ve watch your daughter code and have to be revived—I still can’t stand the sound of codes even on television programs. I don’t know if I’ll ever forget the ambulance ride I took with my son in the middle of an ice storm after he had been having cluster seizures that wouldn’t stop. I’ve learned that hospitals are amazingly heartbreaking in the middle of the night and all you can do when the child next door to you passes away is say a prayer of comfort for that family and of thanks that it wasn’t your own. More than anything I’ve learned to count on my research, opinion, and gut instinct and that no matter what anyone tells you there is always hope. My kids are totally and absolutely amazing (yes I am totally and completely biased) in spite of all that they go through. If they are going to live life to the fullest, I have to put aside my own fears and live life with and for them. I owe them that. No matter how hard this disease is on me as a mother, it is always harder on them.

Some days the stories are adorable, some days they are horrific, but it is all just a part of Caden and Ryley’s tale.

***For more information on PIDD Month, please visit