Seeking Advice on a Possible Childhood Genetic Disease WAS

I'm so sorry to hear about your baby! I just wanted to give you another perspective or question to ask about this. My son was diagnosed with something called ITP when he was 13 months old. I took him to the pedi because he had a weird rash (which turned out to be petechia also). They sent us to the Children's Hospital ER immediately. His platelet count was 5,000 (you may know that it should be 150,000-400,000). I'm not sure what is leading your son's doctors to believe he has this other disease, but ITP can be caused by a virus (thus, the fever). The body (spleen) just starts mistaking the platelets for the virus and pulls them out of the bloodstream. It corrects itself over time, although my son was given steroids to boost his platelet counts. There are other treatments as well, but the side effects were not something we wanted to deal with, so we gave it some time and within a couple of months, our son was completely back to normal. He is 2 now and hasn't had any other issues with it. My son was never sick before he got this (which is what usually happens), so they concluded that he got it from his MMR vaccine at his 1 year appointment. It is a live virus vaccine and it is SO rare for that to happen, but it did in our case.

I guess what I'm trying to give you is hope. Hope that maybe your son doesn't have this disease they are suspecting. Maybe you can mention ITP to his doctors and see if that is a possibility. I'm not saying that they don't know what they are doing, but those are the exact symptoms my son had, so it's possible! ITP is curable and generally doesn't recur. I'm so sorry that you're scared. I was terrified too since they told us that any injury or fall could result in internal bleeding. Of course, being 13 months old, my son fell, walking in the kitchen, the morning after his diagnosis and hit his head, so we had to go back to the ER to get a CT scan and make sure he wasn't bleeding into his brain. Thankfully, he was fine, but he looked like someone beat him up for over a month. The bruising didn't heal very quickly because of his low platelet counts.

I will say a prayer for you and your family. I know how scary this can be since we went through a similar situation (Lukemia was discussed in our situation too). I hope that you get some answers sooner rather than later and that your baby stays as healthy as possible in the meantime.

My prayers are with you. When my daughter was two months old they recommended Down's testing. I so know the feeling of what you are going through. Her features, after it was pointed out, really confirmed things for me well before her results came in. I knew that if she didn't have Down's, that she had some kind of genetic disorder because there just seems to be some commonalities. Now that we have adjusted to it all and she is rocking and rolling along in life, I can now look back and realize the best thing that happened to us was having that two months of getting to know her for her, having a happy wonderful pregnancy and delivery.

Getting a profound diagnosis thrown at you is HARD. It takes your breath away like you've been knocked out. I was physically ill for two weeks. I feel for you and what you are going through.

But always remember, no matter what they come at you with as far as results go, your son is still that same precious son you've always had. You know in your heart of hearts where he is in life. The condition he has is still the condition he has, diagnosis or not. Petechia can be frightening for all the causes of it can be dire. I had always known that to be the case and noticed my daughter had some as well. Leukemia is high with Down's. Her CBCs came back normal. Come to find out, it can be caused just by trauma to the skin. She had some one time following her MMR vaccine. It can be a side effect of that as well. It can be a sign of meningitis. There are tons of things that can cause petechia.

I know that's a lot of rambling, but the point is, you don't know. What else you don't know is that it may not be. Turn it over to God and love your son with every breath you have. This wait could be the longest of your life. Your biggest peace will come from trusting God with your child, for whatever His purpose for him may be. To let Him be in control is the best way to make it through this time. Please keep me posted on your results. I will be praying so hard for you during this time as well.

Looking at his age, as well, has he had his MMR recently? If so, that could be a culprit. If he is about to get his MMR vaccine, it is NOT recommended for children with low platelet counts. Confirm with the nurse that the MMR is not included with his upcoming vaccines. If it is not brought up by the doctor at his year checkup, bring it up.

Hang in there.

I am so sorry for what you and your family are going through right now. The internet is a wonderful thing to have, but there is also a lot of info that might not be the best. I would strive to not look things up and focus on holding and playing with your sweet little one. I know, it is not easy to do at all. We want to know what to do and how to fix it..I would remain as possitive as possible too, take one day at a time.. Live everyday as a cherished one. I don't know anything about the WAS, but I do know that I too was faced with unexpected news at one time about my child and what helped me was to focus on what I had and how to make everything I could be okay..I do know it is hard. I will keep you in my prayers and pray that you will be able to know what is going on soon..Big hugs for you and your family..

K.,
I'm so sorry that you are going through this. I read the responses you've received so far and I could have written Valerie's response word for word! My youngest son was also diagnosed with ITP when he was 13 months old. He literally developed head to toe petechia in a matter of a day and had a platelet count of only 4,000 at the time of diagnosis. Valerie's description of the condition is great so I won't repeat any of that. I too agree that you may want to bring this up as a possible diagnosis. In my son's case he was emergently admitted to the hospital and had to receive to IVIG infusions because his platelets were so dangerously low. It took about 6 months for everything to return to normal but he is a completely healthy 2 year old one year later. I hope this turns out to be something similar for your son. Take one day at a time and know that you have a lot of people praying for you, your son, and your family.
T.

Well, its very good that its not leukemia...so thats great news. I know its scary, and I agree that you shouldn't start searching the internet about it until you have a diagnosis...cross each bridge as you get to it, and you don't know for sure that is his problem so there's no sense in freaking yourself out. I have auto immune issues, had ITP as a child and had a bone marrow test to see if it was leukemia also...turned out it was not. I have thyroid issues and had fertility issues due to the autoimmune stuff and I consider myself very healthy and have a normal, happy life with 2 beautiful children. So try not to freak out (I know its hard)...if it is an autoimmune issue, its not the end of the world. Hang in there and good luck.

I'm sorry you are experiencing this!

Like Valerie, my son had ITP. He spent three days in the hospital, was tested for a variety of illnesses to rule them out (including bacterial meningitis and various blood disorders). He recovered on his own, but there was a lot of medical follow up to make sure his blood count and platelets got back to normal, which they did. He is now a 13 year old healthy teen!

I am sorry you're going through so much. My husband, myself and 3 of our kids have autoimmune diseases that took time and lots of tests to diagnose.They all go to Riley for care. I looked up the illness that your son is being tested for and I can understand you must be really worried, but the only thing I can say right now is try not to look up every thing they test him for on the internet or solicit advice online yet. You don't have a diagnosis and I know you are hurting just waiting, but going to the internet is something I have learned the hard way is not always a good idea. When you read things about an illness online, generally you're going to hear from the very worst case scenarios who are affected the MOST or you may come across unreliable information that will scare you. ANYone can put information on a website. I hope you have answers soon! Hang in there Mommy! You will get through this!