Thursday, April 22, 2010

Living with JS, a year later…..

I have been meaning to write this post since last week. The one year anniversary of D-Day (diagnosis day) was April 17th. I guess I have been putting it off because the thought of re-living this last year, one of the hardest years of our lives, just exhausted me. I have put it off long enough.

I guess we should consider ourselves lucky. We got the diagnosis of JS fairly quickly within a month or so after being referred to a neurologist. I have heard countless stories of unknown or vague diagnoses. I have learned through the Children’s Rare Disease Network that some children go undiagnosed for years, some never knowing the cause of their problems. And because I do not deal well with the unknown, we were relieved in a sense to have an answer.

We are also incredibly lucky because Haley’s condition is pretty mild. On one hand we are thankful, but on the other hand we carry a sense of guilt for those who are more severely affected. I have been told time and time again by other parents with JS not to feel guilty to just be thankful, but we still can’t help but have this emotion.

I have learned so much about JS and developmental delays over the past year, more than I ever cared to know. I feel like I have become a personal spokesperson for rare disease, for JS, for developmental delays, etc. We are constantly wearing our JS shirts and bracelets and take every opportunity to tell complete strangers about JS. Some people often look at me like I am crazy for being so open and honest about it. But it really does help me cope. I detest the stares and hate even more the complete avoidance of eye contact from strangers when they notice Haley’s head ticks or see her in public with her walker. People don’t know that being curious is alright, it gives me the opportunity to educate and raise awareness. We have learned to let the flat out rude comments and the otherwise innocent but insensitive ones roll off our backs. We realize that people just don’t know what to say and often say the wrong thing.

We have met so many wonderful people over the past year. We attended the JSF conference last July in Cincinnati. That was the best thing we ever did!!! And we are already looking forward to the next conference next July in Orlando (can you say “good excuse for family vacation!!!”). I have also “met” a lot of other people through the foundation through Facebook, and cannot wait to meet them in person. I think of the Joubert family as my extended family, it is such a wonderful support network!!!!

We have gone through the gamut of grieving emotions since D-day. Why did we grieve you ask? Well, as cold as it seems to say, no one goes into parenthood thinking they will have a special needs child, no one hopes for it. You only hope for the perfect child. And when you don’t have the so-called “perfect child” you do have to go through a grieving process because things aren’t going to go the way you planned. I know every person reading this who has a special needs child knows what I am talking about. Its the dirty little secret no one wants to talk about. Having a special needs child totally redefines what normal means to you. It is not to say that we don’t love our children just the way they are or want them to be something they are not, but we are all traveling a different path than we thought we would. (see this post for a poem that perfectly descibes this).

Haley has done exceptionally well this year. She has developed by leaps and bounds. Going from a totally non-mobile, totally unable to handle sensory overload to being on the verge of walking and handling sensory input much much better. She still has a long way to go. She is still not really talking, still has physical therapy twice a week, and occupational therapy, speech therapy, visual therapy, and play therapy all once a week and still uses a walker to walk. But she is otherwise a typical toddler, with typical mood swings, loves to play, and very affectionate. She has a wonderful sense of humor also.

The unknowns of JS are what bothered us the most when she was first diagnosed. Not knowing if she will ever walk or talk, what will her cognitive function be, will she ever develop the other complications associated with JS? Her development has given us a lot of encouragement. She continues to new things everyday and meeting her milestones slowly but surely. She is as smart as a whip and, so far, cognitively appropriate for her age. We made a visit to the NIH in Maryland this past December to study her kidneys and liver and they don’t think she is at any increased risk for the complications that can sometimes occur, but want us to continue to monitor that yearly. So the unknown, although it still drives us nuts to think about….we do not dwell on it like we initially did.

All in all I think we have dealt well with this diagnosis. I think being such outspoken advocates for Haley and for the JSF is therapeutic for us. We also have very strong support from our families and friends. Without you guys, we would be lost!






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