I wanted to post an update now that Jake is 10 years old and it is now 2013. Jake is doing very well with his LCHAD…dare I ever speak too soon...knock on wood! He went from being in the hospital every few months as a baby and toddler to now probably having one hospital stay per year when he is acutely ill with anything that causes him to have diarrhea, vomiting or a high fever mainly. Also his hospital stays are much shorter now usually only lasting a day or a few days tops where when he was little, they were several days to a week and even longer in some cases.
I mainly credit his g-tube to letting us manage him at home if he isn't too sick and just doesn't feel like eating. We don't have to stay in the hospital with IV fluids sometimes if he can at least tolerate g-tube feeds if he is refusing to eat. Also he isn't very hypoglycemic now that he is older and his liver is bigger which is a huge relief. As much as I hated to make the decision for Jake to get his g-tube, it was the best thing I ever did. I also went to nursing school and changed careers so I could best care for him at home and make good decisions about his medical care. I have be-come pretty darn good at learning the signs when he's sick and catching things early so we can avoid hospital stays most of the time.
Jake’s Retinitis Pigmentosa has been stable…dare I say that either. So far he has a lot of pigmentation in the back of his eyes that shouldn't be there; however, it has not seemed to affect his vision much so far. Currently he doesn't even need eyeglasses.
I must say people who meet Jake are surprised to hear that he has this rare disease at all because he looks so healthy thankfully! His height and weight are perfect for his age and he's an extremely handsome boy if I do say so myself. Unfortunately on top of his LCHAD he does have autism (which started as pretty severe) but after years of therapy and a lot of diligence from me to copy at home what the teachers do he is very high functioning now with more quirkiness. He also has Tourette’s Syndrome which is mainly controlled by meds with some breakthrough twitches (no he doesn't have the kind where he blurts out swear words). I believe that is pretty rare but it's often what people think of, although now that he is a pre-teener Id like to use that for an excuse for some of the things he blurts out at times! ha ha.
He sure has a lot of challenges for a little boy but does pretty well with it all. To boot, sadly after 10 years of marriage to his dad when Jake was only about 5 years old, we got divorced. Having a child with so many challenges was surely hard on us. He now lives out of state and doesn't see Jake much but is still involved when he can be and at least we get along. I have heard the divorce rate for parents of children with any special needs is astronomically high.
If I can ever be of help to any LCHADer or LCHAD parent feel free to contact me anytime. If I can help even one child avoid the amount of hospital stays that Jake had I would be very happy.
Jake’s mom (written in Sept 2012)