Still no seizures...

Well, still no seizures since yesterday at 5pm. This is a good morning, I just wanted to update you all.

THE SEIZURES HAVE STOPPED...

I don't know what to say I am too excited right now, but I had to let everyone know. The man I spoke to from the support group gave me some information about his son that led me to a new medicine. I've been begging the doctors for days to give her Tegratol and they finally ok'd it today and we gave it to her at 5 o'clock this evening and she has not had a seizure since. I had a feeling it would work. They said it wouldn't work right away, but it has. This has been the best night ever. Thank you for all your prayers and support. This is a great day! Love, Amber

Probably Wondering What's New...?

Well, I guess we're not out of the woods on this Pelizeus-Merbaucher Disease. In fact her neurologist thinks it's for sure and he says he hopes to be proven wrong. I have been on the phone with people across the country and way out of my intelligence bracket trying to find some answers on where to go from here. And this is what I have come up with at this point. Although we have not had a diagnostic test, Sydney has all the symptoms of PMD. I will have more tests done, but this is such a rare disease there isn't too much information. There are 250 cases in the USA and about 2,000 known worldwide. At this point we are trying to treat her symptoms. That is more important that putting a label on her. We have got to stop these seizures. Then, we need to get her nutrition going as strong as her body will allow. We need her to stop vomiting. These thing are on the top of our priority list right now. I have found a family support group that has been able to answer some big questions for me and point me in some direction. This will be a saving grace. There is "one" Doctor who specializes in this rare disease and other similar diseases. I talked to him last week. Thank you everyone for your prayers and support. Please keep Sydney in your prayers. Love, Amber

Good News...

TEST RESULTS CAME BACK NEGATIVE for Pelizeus-Merbaucher Like disease. That is so wonderful, that was a terrible disease. So, they are checking to see if it is possible that anyone might have that disease that also had a negative test, but they don't think so. Now, we don't know what is next, but I feel hopeful. Thank you for all your prayers and your support. Life sure is just like a roller coaster. Love, Amber

Sydney loves her Daddy...

No news yet...

Well, as I expected the lab results are not in yet. I promise to let everyone know as soon as we hear any new news. We had a nerve/muscle test today and that went well. I guess her nerve and muscle response in her arms and legs seems normal. I could have told them that before the stuck her with a bunch of needles and shocked her with that cattle prod, but they are the doctors and I guess it was necessary. So, that is some news to give you. Tomorrow, we will do another barium swallow to see if there are any twists or obstructions in her upper GI. Then, the surgeon will be able to see what he's working with I guess when he has to put in her stomach feeding tube. We have the consult with the surgeon next Wednesday. Thanks again for all your prayers and support. Sydney has strung a few pretty good days together. We are not sure, but maybe her new medication is making her episodes more tolerable. She is sleeping through the night and gaining weight. We have her on a continuous drip with her feeding tube at 20-24oz a day and a higher than normal calorie intake. Her little tummy looks fuller but she's still so dainty. Her feeding tube is portable so we can take her out and about and she doesn't seem to mind the tube. I'll update you all soon... Love Amber

Back to the Hospital we go...

So, we had to go back to Dorenbecker's, today is our third day here. I just found out they have computers we can use. We had our GI appointment and then we were admitted to the hospital. Sydney really needed to eat since she weighs less now than she did on May 5th. I know it's scary. But we have now gotten her a feeding tube and she is keeping it down great so far. Her episodes are the same, horrible, but at least she is getting food in her tummy. We did a barium swallow test and found that she is getting some pooling on her vocal chords and it's going into her airway. This is not good. So, we will continue with the feeding tube in her nose for a while, which just so you know doesn't seem to bother her too much. Then, most likely we will have to put a feeding tube in her tummy. However, we will begin to practice eating and swallowing with the speech pathologist soon. Her little swallow muscles just aren't very strong right now and we expect that her brain might have something to do with all of this. We will keep trying to get her help whatever that may be. The doctors have been very good with her and with us. They say we may get to go home tomorrow for the Fourth of July but we will see how Sydney is then and they will show us how to use the feeding tube and all the equipment in the morning. Thank you everyone for your prayers and support. Love, Amber

Well, we had our neurometabolic appointment and they had a conference with all the brightest brains around. They all agreed that we will wait for one of her blood tests to come back before we do any other testing. That test doesn't come back until July tenth. However, they did all agree on that test being the most probable as far as a diagnoses. The prognoses for that disease is not good, so we are hoping it is negative. In the meantime, we will be doing physical therapy, seeing a nutritionist and scheduling some nerve testing at Dorenbeckers. We also found out that she has not gained any weight in the last month. We are trying to be aggressive with feedings but it has been difficult. I also want to let people know that if I have not called you it could be because I broke my phone and lost a lot of numbers. I will keep you all updated when any new news comes in..... Love, Amber

Please Forgive me for not updating my blog lately, we have been very busy with all our appointments and phone calls and dirty diapers. However, I really don't have much to update. We have continued to be on a wild roller coaster ride for the past week. Like my dad says, " Two steps forward, one step back..." Sydney had a rough weekend, but the past two days have been easier on her. Yesterday she had a great day, it was her best in a long time. We always hope that she will continue to progress...

We did get some bad news from the neurologist on Tuesday. Three of the blood tests that OHSU had done over a month ago were never sent in. Dr. Konkol, the neurologist had them triple check on their status and found them overlooked and lost in their system somewhere. I was very frustrated, since we had to get her blood drawn again two days in a row for the amount they needed to resend those tests. They have all been sent now, I called, and we will get 3 of the results back the week of June 22nd, and the 4th we will get in the beginning of July. Dr. Konkol also discussed some possibilities with us, which are not very pleasant to say the least. We will wait for the tests to come back before we worry ourselves sick. We have better things to worry about, like whether she's getting enough kisses...

Thanks to everyone for being so supportive. We've needed it! Next on our agenda this month is the neurometabolic appointment, Genetic appt., GI appt., another EEG, more Chiropractor visits, and we are scheduling an ERG with the eye doctor. The ERG is like the EEG, but for the eyes, for signs of visual stimulation I guess. We will hold off on the ERG till she is a little older and more developed. In the meantime she is still eating, sleeping, and making dirty diapers. She also smiles, makes lots of noises, and is starting to roll over from her back to her stomach. Also, she is scooting on her back all over, she seems very strong aside from her head control. She's just not a big fan of tummy time. I'll try to write soon. Love, Amber

Here is an episode so that you have a better idea of what we are dealing with. I'm sorry if it is a little disturbing, but just in case you want to know this is a small one we taped. She is probably 3 months old here.

Well, I'm sorry it's taken me so long to post another blog. We have had a few appointments since the last time I blogged. However, I really have nothing to report except that we had a fun weekend away at the lake and Sydney seemed to have a good weekend, the best she's had in a long time. We hoped that she was turning a corner, but yesterday evening was pretty tough on her as well as this morning. We are continuing to see the chiropractor and now we are adding the naturopath to the list. We see her tomorrow. I just keep following suggestions that sound promising and hope that something makes Sydney feel better. Yesterday, I had someone ask me, "if I had considered that she is having gas pains and bicycled her legs." I wanted to tell her that this child has peddled more miles than Lance Armstrong, but I understand she was trying to help. I really wish she was right, that would be great. Another test came back negative for organic acids. We will be doing some work with the metabolic team at OHSU soon, as well as the GI specialists, neurologist, and geneticists. I'll be keeping you posted. Thanks for all your support. Love, Amber

Here is a video when she was a month old before the episodes started.

Chiropractic Appointment

Well, we went to the chiropractor yesterday she said they made some minor adjustments and that Sydney had some "stuck spots" and that she believes that they will be able to make a difference for her. I don't know what to think, I just know that I'm willing to try. So, we will go to see them twice a week. Hopefully, she will show some improvement. I sure wish someone had a magic wand. Friday is the neurology appointment, maybe Dr. Konkel will help her somehow. So, Friday we see the chiropractor in the morning and the neurologist at noon.

Todays Genetic Appointment

Well, today's appointment didn't really tell us anything, but it did enable us to see the neurologist sooner. So we will be seeing Dr. Konkel next Friday at noon. We have heard great thing about him. I hope he can help her. We also have an appointment next Tuesday with a craniosacral pediatric chiropractor, it was suggested to us by someone in the medical field and we have heard great things about her too. All these things make me a little nervous but we really want her to feel better. So no news today, but that could also be a blessing. From the beginning we had hoped this would be something Sydney would just grow out of, just one of those weird baby phases, wouldn't that be nice. A great story to tell her when she gets older. Whenever we tell someone about this, their first reaction is usually to tell us, "Oh my baby was colicky too...," and then I feel like I'm just overreacting, but this is NOT COLIC. If it is I will be the happiest mother ever, but as far as all the pediatric doctors are concerned this is something else and they don't know what. And yes I know, Doctors are not God...but they sure are trying to ease her discomfort and that leaves the praying up to us. It's sure is a lot harder to keep your faith when your child is in pain. I just keep telling myself that the hardest things in my life have been the most influential in finding real happiness. Thanks to everyone for you support, I'll keep you updated....
Love, Amber

The smiles in between all the pain help us get through...

....Hopefully the doctors will find out what the problem is so that she can feel better soon. We are on the phone with every expert at OHSU, they are working hard and we are pushing them along for sooner appointments and more advise....

Yesterday was her eye appointment. Dr. Weleber says he sees nothing wrong with the structure of her eyes or the nerves behind them, and she is too youg to do some of the other testing yet. He did agree that she is not tracking and does not seem to acknowledge any of her suroundings yet. We are pretty sure that she sees light and responds to bright lights and notices when it is dark. The eye doctor believes it may be neurological. Tomorrow we have a genetic neurology appointment. Hopefully they will be able to help us move in some direction. Her previous scans (CT; EEG; and MRI) didn't show evidence of seizure activity, tumors, or leisions. The only thing they have to go on is that the white matter in her brain looks notably underdeveloped. They don't know what that means yet if anything...

At this point we are not sure if the eye problems, white matter, and seizure like episodes are related or not. All we know is that Sydney is in pain, and is not tracking with her eyes. Her eyes have been a concern since she was about two weeks old, but the painful episodes started when she was about two months old and have gotten progressively worse. At their worst they are about a minute apart, and at their best a half hour apart. They never let up. She is very tired because they wake her up. However, a week ago Scotty and I noticed that if we catch it in time we are able to fold her up like a potato bug and sometimes that lessons the duration. We started to think that maybe she was having a cramp in the back of her neck and upper back, since she arches and becomes so tense with pain. But we try not to get too excited about any ideas so that we aren't so disappointed when we arew rong. We have had a lot of support ad that has been very helpful. All we want is for our baby to feel better. I started this blog because it is hard for me to keep up with phone calls especially when we don't know anything. I will keep you all updated as soon as we hear anything. Thanks for all your support.

Love, Amber

She liked being home she had so many vistors, she is so loved.............

Baby Sydney Was Born

Sydney Marie Nelsen was born February 13, 2009 at 4:22pm at Southwest Washington Medical Center. She was 7lbs 9oz and 18inches long. And beautiful! The Grandparent couldn't wait to see her....