Fitz Family Story PDF Print E-mail

My daughter Joyce was born May 2, 2008. I thought this was going to be my easy baby because my son who is two years older was the tough one. And the first day was easy but beyond that I just didn’t have a clue. She had rashes all over her skin and would eat so fast that she would choke on her bottle. She was just hungry and uncomfortable all of the time. I took her to doctor upon doctor saying something just isn’t right. Finally one night I didn’t know what to do because her face and eyes were all swollen. So I took her to our local Ready Care place. The doctor there I will never forget. He said: we don’t solve big mysteries like this but it is a general rule in pediatrics that if mom thinks something is wrong, something is wrong.

For us the answer came when Joyce had a bout of low sugars. I couldn’t wake her up one morning. She was 19 months old. Her sugars were 36 (normal would be 80-100). She was in our local hospital for a week and we were told to follow up at Children’s Hospital of Philadelphia. So they started investigating: enlarged liver, a few illnesses with a low ANC and repeated hypoglycemia. I went to several specialists and it was GI-he just started asking a lot of off questions like my pregnancy history (I have had 4 miscarriages). He mentioned Shwachman Diamond Syndrome and we looked it up and my husband and I gasped. It described Joyce to a “T”. A genetic test proved him right. My son does not have it and is not a carrier. My daughter also has Hypoglycemia which doctors feel is separate from SDS.

So here is what I have learned about having a kid with a rare and scary illness:

No matter how sick your kid is there is one sicker-going to a Children’s Hospital on a regular basis really puts things in perspective. I have seen and met a lot of moms and kids and I have to say when Joyce is well she is fine. Although we have had a lot of hospital times it pales in comparison to others.

My kids and their life will not be the same as other kids. Joyce is often in the ER and I have to bring my son along. Once a nurse asked if I wanted to take my son out while they took Joyce’s blood and I was like huh?? He is used to it and he comforts her. In their life this is their normal and that’s ok.

It’s ok for me to spoil both of my kids. Too bad if no one likes it but my kids go though some stuff that others don’t. If I have to go into debt to buy them some toys to make them feel better so be it. Most kids don’t do all day ER visits every month or so.
When people say “but she doesn’t look sick” it is a double edged sword. Nope she doesn’t but she is and although that comment annoys me I have to remember I am so lucky that most times she is fine.

There is a stress hang over. Because our kids are in and out of the hospital, I try so hard to go right back to normal when we get home from the hospital. Which is fine.  And it usually does go back to normal but somehow the stress will hit at some point.

I don’t and won’t ever know had to handle that dark cloud that hangs over our family: Will I see her go to a prom? Will she get married, have kids? Will she even be able to resist the germs of preschool? How badly am I going to miss her if the unthinkable happens?  But friends really help - SDS friends, as well as friends that have nothing to do with SDS, so I can just escape for a while. I took Joyce to the doctor today because she has a rash on her face. You can never be too careful but knowing the mere act of putting her in a docotor’s office will probably land us in the hospital. The Little girl next to us cheerfully says "I have a fever!" and I find myself saying cheerfully out loud "Oh kids they pick up stuff" much like I say "Oh just put your stuff anywhere" when people come into my well ordered home-my OCD cringing.