Well, Wadda Ya Know!

Rylie had her orbital ultrasound on Thursday and now I'm more confused then ever. The ultrasound revealed that there is no fluid causing the swelling on her optic nerves. This is called Drusen or false papilldema. True Papilldema is what we've been dealing with all this time. In other words her optic nerves just have a swollen appearance because she was just born this way. It explains why the medicine has never worked to decrease the swelling. She was put through hell to be diagnosed with Pseudotumor and all along it was Drusen.

But it's still a little tricky and confusing. Why wasn't this ever detected by the ophthalmologist all these years? Well because Drusen becomes more visible to an ophthamologist as a child gets older. Maybe the medicine worked and that is why the ultrasound revealed no fluid. Doctor said that's possible, but not likely, because the optic nerves still appear swollen. Why when she had a spinal tap did it reveal a high opening pressure? Well that high number may just be Rylie's normal(because of Down syndrome). Not really convinced about that one. Drusen can still cause vision problems, but it's rare. Unlike Psuedotumor which is very vision threatening.

Rylie was taken off the medicine and will go back to the doctor in 3 months. I'm just going to pray we go back to normal now and nothing else develops. Her vision has been fine throughout this whole ordeal.

Listen Down syndrome Moms, If your ophthamologist ever looks into your kids eyes and sees swelling of the optic nerves, make sure the very first test ordered is an orbital ultrasound! Because the ophthalmologist said Drusen is very comman with kids who have Down syndrome.

I'm still confused about everything! The good news is I think I finally learned how to spell ophthalmologist. Ha!

ALSO, PLEASE CONTINUE TO PRAY FOR MY DAD. HE NEEDS MAJOR PRAYER. HE'S WAXING AND WANING. HE WILL PROBABLY NEED A FEEDING TUBE. WE NEED A MIRACLE. GOD CAN DO MIRACLES AND HE HEARS OUR PRAYERS!

Update

Rylie is under the care of a great doctor now. She still has the swelling...it could still take weeks for the medicine to work and another test will be run. She's doing good, but it's just a waiting game as long as she is not having symptoms....more later, I'm too tired to think straight.

There is a certain kind of pain a mother feels when they're told there is something wrong with their child or that their child is sick. It's a hurt that goes right to the heart and causes worry..extreme worry. It's not the kind of worry you have when your short on money or waiting for a call back for a job, etc. It's a worry and a hurt that goes right to the heart and causes your eyes to well up with tears every time you think. I'm afraid this is how I feel right now. We went to the opthamologist tonight and the swelling on Rylie's optic nerves hasn't gone down at all. The doctor said it looks the same as when she saw it two weeks ago. Maybe it will take a little longer for the medicine to work, or maybe they'll up her dose, or maybe we'll need a new treatment plan. The Opthamologist recommended seeing the Neurologist as soon as next week.

The thing is....Rylie is not in any pain. The problem is that she has Psuedotumor Cerebri and it can cause vision loss. Right now her vision seems to be just fine, but I don't know what effect this could eventually have on her.

All I can do is trust God and work with the doctors to get this resolved. I don't like this feeling. I feel like I'm back seven years ago and getting a Down syndrome diagnosis. I'll have to use that experience from seven years ago to remind myself everything will be fine.

Yesterday Rylie had her MRI. This morning I called the neurologist for the results because I knew she had them according to radiology. I was getting anxious waiting for her call back, so I asked radiology to fax the results over to her pediatrician because I knew her pediatrician would get right back to me. And she did. She told me everything with her brain looked normal, but they saw fluid in her sinuses and noted that it might possibly be mastioditis. HUH? The ped told me I need to take her over to the ENT. Well Rylie was already at school and my car was in the shop, so I casually told the pediatrician I would take Rylie to the ENT next week, not realizing this could be something serious. The pediatrician told me...NO, I'm not asking you to get her over to the ENT now I'm telling you, then she told me to take a taxi if I had to. She said she might need IV antibiotics. So right away I went into panic mode! The pediatricians office made arrangements for me to see the ENT at 2:00 and that gave me some time to make arrangements. My friend Kim picked up Rylie from school and my mom was able to come up and watch Cesalie. Speaking of Cesalie, while I was in panic mode and making all these phone calls she went into Karlie's room, found a black Sharpie marker and decided to draw all over herself. She drew all over herself and because she loves cats so much, she decided to become one and drew whiskers on her face. Yeah, just what I needed.

After I finally calmed down and was waiting for my mom to come up, I went on line and googled Mastoiditis...and realized there was no way Rylie had this. Her hearing has been fine and her ears looked wonderful to me, she had no fever and has been doing great. So, after I read that I really started to calm down and wonder why the pediatrician was making such a big deal.

Meanwhile I was getting ready to get out the door and the Neurologist calls and says, Rylie's MRI was normal. I told her what the pediatrician told me about the Mastoiditis and she said anytime you do an MRI they will see some fluid in the sinuses, and she wasn't worry about it, but still go see the ENT in case.

So, we go to the ENT and the ENT said that the pediatrician overreacted. Rylie was fine. She just had a little bit of fluid in her ears and her tubes were now out. She got a hearing test and did pretty good, but we need to schedule her for ear tube surgery again.

Ok now back to the MRI. Because everything else with her brain has been ruled out that officially means she has Psuedotumor. They're not 100% percent why children get Psuedotumor, but they said it's common with Down syndrome. She is taking Diamox to deal with the Psuedotumor and the swelling on her optic nerves. Hopefully the medicine is working. We will find out when we see the Opthalmologist on Tuesday.

Besides the fact that Rylie had severe pain from her spinal tap last week, she has been fine. No nausea, vomiting or any other symptoms Psuedotumor can cause.

The pediatrician had me scared today. But thank God there was no mastioditis! I realize her ped had to take all precautions, but I think she should have consulted with an ENT and the neurologist before scaring me to death.

Update

Rylie was sent to CHOP last night because she was in pain, and her pediatrician wanted them to do an MRI on her back.

While waiting in the ER her pain subsided quite a bit(ANSWERED PRAYER!!!!). The doctors checked her out and didn't feel that her pain warranted an MRI. They gave her some pain medication and sent her home. Apparently this pain in her back is normal for having had a spinal tap. It should resolve completely in a couple days.

So for now she will have an MRI for her eyes next week, and we'll go from there.

Rylie is doing good right now. Prayers have been answered. Thanks everyone. I'll update when I know more.

update

Doctor said Rylie's back was swollen and the pain was radiating to her front. She'
s on her way to CHOP for an MRI on her back. I would appreciate prayers.

Some stuff going on with Rylie

On Tuesday Vince took Rylie to her annual eye exam. She sees the eye doctor each year for her Optic Nerve Hypoplasia and astigmatism. Right away the doctor notice that her optic nerves were swollen. That is very serious and she was sent right to the emergency room.

When we arrived at St. Chris's she had blood work which was normal and a catscan which was also normal. They wanted to send us to CHOP, but CHOP wanted St. Chris's to finish up with all of the neurological test before they sent her.

They gave her a spinal tap( that was a horrific experience for Rylie) Her levels were elevated. They then admitted her to St Chris's with an MRI ordered for the next day.

The next day we were told the MRI machine was broken. They wanted to transfer her to CHOP for an MRI, but CHOP was too backed up.

In the mean time she was seen by a neurologist.

All the doctors seem to agree that she has Pseudotumor Cerebri. They put her on medicine to treat it for the time being and discharged her. She is scheduled for an MRI next week at Abington hospital. The whole not being able to get an MRI thing was an ordeal!!! I called Abington myself to see if they did pediatric MRI's.

Today she is refusing to walk and seems to be pain. I'm worried that this might be from the spinal tap. She keeps saying her belly hurts(like it's sore or something). She seems fine otherwise. She is eating alittle and drinking and playing on the couch, she screams though when I make her get up to walk. I called the pediatrician and they said to bring her in. Vince is taking her over there right now as I write this. I'm also wondering if she might have a UTI, because she hasn't gone potty all day. Maybe that is why she is in pain???

I'll update later.