|Posted by Angie on July 6, 2011 at 1:14 AM||comments (0)|
As you all know... we no longer have the autism diagnosis and so I've created a new blog to reflect our new journey. This site will stay up and running as a reference for anyone that needs autism info but our updates, etc will now happen at www.rettmomma.blogspot.com
... I posted an update tonight at the new site. I hope you'll stop by and read.
|Posted by Angie on April 27, 2011 at 11:46 PM||comments (2)|
Ellie and I spent today at Mayo. Ellie had an ECG and we saw Dr.Renaud (her neurologist) afterword. Dr. Renaud wanted to visit with us about the diagnosis we recieved last week and the future. I went into the appointment dreading what she was going to say and preparing myself for the worst. I've read every website I can find about Rett Syndrome and expected her to reitterate the toughest points.
I was pleasantly surprised that Dr. Renaud was positive and hopeful. She's hopeful that Ellie will not physically regress and will stay on the more mild end of the Rett spectrum of symptoms. Ellie does have the deletion in the MECP2 gene - which is the more common of the "Rett genes." There are still variations within that group in how severe the symptoms are in these girls. She explained that the severity of symptoms depends on how sucessful the bodies of these girls is in shutting off the mutated side of the gene. If they're sucessful their symptoms may be more mild.
Dr. Renaud noted what I had already found through blogs. Many of the girls I've read about are Ellie's age or slightly older and already physically regressing/regressed. She's hoping that because she's avoided it so far that it means she will not regress physically at all. THAT's what we're going to pray for. Learning to live without fearing that regression is my goal. I don't want to overanalyze every movement and try to predict the future.
There is research that the ketogenic diet can stop child epilepsy. Reading through this data has pushed us to wonder if the diet has anything to do with Ellie not regressing physically. The diet she's on is somewhat similar to the ketogenic diet. More research soon to follow on that! It's at the top of my list.
We're also considering a clinical trial that will begin this summer. It's in phase 2 of the trial, which is the phase where they analyze the effects of treatment on behavior, cognition, gastrointestinal issues, etc.
I will be heading to Boston the end of May for the annual "Rett Conference." I hope this conference will give us new hope and information.
So, I'll write more later but for now this is the just of what's going on in our world! We're very thankful for our little family and all the blessings we've been given!
|Posted by Angie on April 25, 2011 at 7:39 PM||comments (0)|
Sixteen days ago, it felt like our world was turned upside down in a matter of seconds. Our farm was leveled by an EF4 tornado on April 9th at 9:30pm. We spent 5 frightening minutes in the basement and emerged to find our farm leveled and our house pretty damaged. We kept saying how thankful we were that God spared our family and our home.
On Monday the 18th, nine days after the tornado, Dr. Renaud (Ellie's pediatric neurologist from Mayo) called. It was THIS call that REALLY turned our world upside down in a way soo much more devastating than any tornado. Dr. Renaud called to tell us that Ellie's test for Rett Syndrome had come in. The result was positive for a point deletion in her gene. The deletion that she has IS one that HAS been identified in other children that have Rett Syndrome. I'm sure some of you are wondering what Rett Syndrome is, so I'll link some websites here for that information.
To say that this diagnosis is devastating is to say the least. I spent the first hour after the phone call crying my eyes out. I've spent the last week tearing up and crying every time I've been alone or had a moment to think and/or read. Thinking about the future is terrifying and feels so hopeless. I cannot imagine anything worse than watching our daughter suffer and lose function of her body. It just seems to unfair and cruel. It's not at all what I want for Ellie... or for any of us. So many of the hopes and dreams we've had died when we got that call. So much of the hope Ellie's latest progress had given us has been stolen away. I hate the thought of her being so dependant for the rest of her life.
We all know that I worry too much. I think ahead, too far ahead, and it gets me in trouble. It's something I'm convinced God is determined to break me of. Sigh. Painful as it's going to be, I know He'll be standing at my side and carrying me when I'm too weak to continue. Much of the last week has been a blur, going through the motions. I've survived on the encouragement of friends and family; proding me forward when all I want to do is curl up in a ball and hide. So many people have given me back scriptures that I gave them for encouragement. It's been so good for me to be reminded of those truths in this tough time.
Keep praying for us - it's been a long couple weeks.
|Posted by Angie on March 26, 2011 at 11:22 PM||comments (0)|
As life moves full speed ahead, we run alongside trying to keep up. It's been a busy few months, full of joy and struggles. We made a trip to Mayo in January in an attempt to have doctors diagnose Ellie's vomiting spells. We spent 4 days and 3 nights on EEG leads doing video, EEG, and oxygen monitoring. We learned that Ellie continues to have an irregular EEG (even while on seizure meds,) she also had some problems with her oxygen levels dropping below normal range (77%.)
We returned to Mayo twice during March. Our first trip was to have more monitoring done in a sleep unit while watching her oxygen levels. Her levels stayed in very healthy ranges while on the monitoring. They did, however, find that she has a higher amount of leg movement than normal. This can be indicitive of "restless leg syndrome" which is a problem effecting sleep. They took blook to check feratin levels (iron,) as a low feratin can be the cause of such issues. Ellie's feratin appeared to be within normal ranges. Because of these two things, the sleep doctors ordered some additional testing for Ellie. They wanted to rule out reflux (which can be aspirated and cause oxygen issues while sleeping.)
We were forwarded on to the gastrointestinal doctor (Dr. Grothe) who thought it would be best to do an upper GI x-ray and a scope down her throat. These tests check for irritation, swelling, ulcers, etc that can cause vomiting and GI issues. We returned on a second visit in March for these tests. We just recieved all clear results this week, meaning that they found no abnormalities to explain her GI issues or her low oxygen levels. It's a little frustrating because had one of those tests come back with an abnormality we would have had a course of treatment for her digestive issues. Dr. Grothe would like to see us try a med when Ellie starts to cycle the next time to see if we are able to break the cycle. She listed of half a dozen options to me over the phone (none of which I recognized or understood!) So, she'll consult with our neruologist (Dr.Renaud) and they'll come up with a plan for us to follow.I have to comment how both of these doctors have called me, personally, to go over results. It amazes me that these doctors take time from their evenings to call me with results rather than having an assistant or nurse do it. Dr. Grothe called at 8:20pm and spent 20 minutes on the phone going over Ellie's results and the options for our next step.
We're still waiting on one very important test. It's a complicated test in which some of Ellie's DNA is being analyzed. These typically take several weeks. We'll breathe a sigh of relief when we get that negative result back.
As of right now, we'll head back to Mayo sometime in June for rechecks with our team of doctors. Over and over we feel so blessed to get to have them working to solve the puzzles we face with Ellie!
For those of you that we haven't seen for a few months... Ellie has a few words. It's super exciting to us. I can't tell you how much I enjoy hearing "ma ma ma" from her mouth. She's consistently saying "mama, dada, Emma, more and cat" It's so precious to hear her little voice! She's more and more cognitively aware, noticing what's going on and wanting to participate. She is able to follow simple 1-step directions most days. Like most kids, hates to pick up after herself or complete something she's started. We're enjoying a new "helper" at our house! Trish is a BVU student that we're having come in the mornings to help out. The girls all love her and look forward to her coming! She's such a help and really gives me much-needed breaks!
I hope this finds you healthy and happy! Continued prayers for health and peace are appreciated.
Hugs all ~ Angie
|Posted by Angie on January 26, 2011 at 3:05 PM||comments (0)|
Feeling a sense of accomplishment is something else that really makes me like plants, especially my little ivy plant in my bedroom. It’s 100% under my control. If I decide to water it, I do. Water is always available to me. If I decide to give it fertilizer, I do it. If I want to transplant it into a bigger pot or I want to prune it back, it’s my call. When I provide what my plant needs it flourishes. With those resources always available to me, creating that optimal environment is simple. Now tell me, why should it be so hard to provide that optimal environment for my child!?
Why is it constantly a struggle to get my child the medical attention, the funding for services, people who will advocate for her, and the assistive devices that offer us hope for progress. We found out today that our initial attempt at getting Ellie the speech device that we trialed a few months ago, was denied. This decision is following a trial of the device where Ellie learned to appropriately hit a button while expecting a response. She showed learning and interest and a desire to use the device. Now we’re being told through this denial that Medicaid believes that Ellie’s rate of learning, etc. shows that she should be provided with a much lower-tech device. It says to me, we really don’t think she’ll ever reach that potential. I disagree with them. I know that this device is a good fit for Ellie. I’ve worked with her in using this device and I’ve seen how interested and responsive she was with it. We had the device for just short of 4 weeks and she learned to play some games and how to make a choice using the device. This is the first time since Ellie regressed that we’ve seen her effectively make a choice or imitate. I witnessed her watching and understanding how the buttons operate and using them to play a song about monkeys jumping on a bed and a spider crawling up a rain spout. I’ve anxiously been waiting for this device for weeks, praying that THIS would be our bridge from her silent world to ours.
It makes me angry that people without personal experience or price get to make decisions like this. I want to know where that person’s office is. I want to drive there with Ellie in tow and spend the afternoon in the chairs across the desk from the person making this decision. I want him or her to hear her screams and watch her tantrum and rage because of her frustration and lack of words. I want them to look me in the eye and tell me that they don’t think my daughter will ever reach the full potential of this device. I want them to have to look at her while they take that hope and possibility out of our hands. My week has been full of decisions and future planning which really is tough at this stage in the game.
Our school visit yesterday was hard. It’s hard to see other kids younger than Ellie doing so much and internally doubting that she can get to that point. Wondering what more I should have or should be doing. Asking myself ‘why.’
I’m encouraged by what I see at the school; by the staff and the students. Fearful of what it will be like to send my baby there every day for 9 months of the year. Scared, that she won’t grow and learn like the other kids and at the same time scared that she will. What if she likes it and she doesn’t need me like she has. I mean, who am I without being that needed? I’m scared that I’ll get used to the “easiness” of her being at school and be overwhelmed by her when she’s home. There’s so much to process.
I still believe that Ellie has the ability to learn and that we’re going to tap into that ability at some point. I haven’t lost hope or given up in the least. I’m down and frustrated by our setbacks but anger motivates me and I push harder on the people making decisions.
|Posted by Angie on January 24, 2011 at 10:07 PM||comments (0)|
I have this little plant in my bedroom. It used to be a much larger plant. I've gradually killed it down to a "little plant." I rarely think about watering this little plant. I mean, it's in my bedroom and I really always procrastinate about watering it. So I remembered a couple days ago to water this little plant. Tonight as I was getting ready for bed, I looked at my little plant and noticed a whole new clump of little leaves, vibrant green, strong, little leaves. It made me think... wouldn't it be awesome if that little plant was a metaphor for life?! I mean if every drop of water I poured into my marriage, my children, and my passions was converted into a vibrant bunch of strong, little leaves.
For the last two years, I've been so very intentional about pouring into our Ellie. Emma has confirmed many times the way that I feel. She always says things like, "Mom, you're always helping Ellie...You always hold Ellie... She always gets to go first...Why do we have to leave just because of her MOM!?" Ellie just takes more of everything... time, energy, patience. She takes much more intentional watering and yet the leaves that come from those waterings are tiny and even recede back into the plant at times. I sometimes doubt if I watered the plant at all or if maybe I did it with the wrong method or at the wrong time or with the wrong cup.
I looked through Ellie's file for something this week. While looking, I found an assessment from March 2009. I went through the assessment and reassessed Ellie. It made me so sad when I realized her score was almost exactly the same as it had been almost 2 years ago. So seeing the simple nature of my little ivy plant kind of ticked me off. Why can't life be that simple... that scientific?!
Tonight I feel as though I'm at the base of a very high mountain, preparing for the trek upwards. In the morning, Ellie and I will be visiting the local elementary school. Ellie will be 5 this summer and I need to come to the realization that she's not Mommy's little baby anymore. I want nothing more than to shield my little girl from the cruel realities of life. I'm afraid for her and for me. I'm afraid that something terrible will happen while she's out of my reach.This is the place where I start flipping through my little binder of verses - trying to remind myself that *I* don't have to be in control because HE has it covered. It's so not my nature to lay control into someone else's hands. I'm working to find peace in his promises.
I want to remember that my narrow view of equality and fairness is just that... narrow. I need to remember that there are many types of plants. They are not all ivy that thrives on the water it's given. I know that He has very clearly reminded me today that some may be more of a tree... with deep reaching roots and slow growing branches and leaves. I need to remember that not every plant processes that water in the same way. Ellie may be my oak tree and Eva my little ivy plant and Emma my little christmas cactus.
God bless you tonight! ~Angie
|Posted by Angie on January 10, 2011 at 11:18 PM||comments (2)|
I'm writing mostly to update about our latest trip to Mayo Jan 6-10. We weren't scheduled to be seen at Mayo until March for a repeat EEG and med-check. For the last 10 days or so Ellie has been fighting another round of cyclic vomitting. Especially concerning to me because this seems to follow a med change. Dr. Renaud wanted to up the meds to see what the effect would be on her nighttime behaviors. The increase of meds caused her vomiting spells to increase from 1 time per night - to a continual cycle of sleep, vomit, wake, sleep, vomit, wake, etc. for 3-4 hours. This happened for 2 nights in a row before I called requesting to be seen. Dr. Renaud miraculously found us a spot on the Pediatric Epilepsy Floor in the 24 hr monitoring unit. (The schedule was out until the end of Feb. but God found us a spot the very next day!)
We left on the 6th so that we'd be ready at the hospital by 8am on Friday. Ellie got all wired in on Friday morning. What a painful, tedious process that is! After being hooked up we were confined to our room under video surveillance and EEG monitoring. Ellie decided not to have the type "episode" we were watching for that night... so they kept us another... she didn't have on Saturday night either...so they kept us Sunday night and FINALLY she had one. Her "episode" was very short but it gave us the info we needed.
Boy I can't tell you how relieved I was to hear her gagging in the night! Laugh! I was beginning to feel like a prisoner! I couldn't leave her alone at all because of her wiring contraption. I had to rush in the bathroom to make sure she wouldn't tangle up or pull off her head wrap. One of the nurses sat with her Sunday night while I got a shower - what a treat!!
So, our originally planned 12hr visit ended up being more like a 4 day 3 night visit! For that I am so so glad.
We learned a lot this visit. Our previous EEG's have been 1hr reads. Sooo this visit with over 75hrs of readings really gave us some great data. I learned today from the Pediatric Epilepsy Doctor that Ellie is having little seizures in her sleep that cause an arm jerk or a wrist to flip up. For the most part, pretty small, short, subtle seizures. (This IS while on meds.) She's also having a very abnormal amount of seizure potential confirming the need to continue on the seizure med. What surprised us was that Ellie is desaturating (not absorbing enough oxygen) some while sleeping. Dr. said that it's not enough to alarm her but enough to warrant further testing and follow-up. She's thinking that the desaturation and a possible problem with reflux could be the culprits for her cyclic vomiting. Combined with the idea that the longer spells could be a combination of seizure activity and desaturation.
I'm very glad to know that these doctors are never satisfied. They want to continue working through Ellie's "puzzle" until she's healthy and well and functioning how she should be. They truly are amazing professionals and we're so blessed to get to be under their care!
So, I have lots more reading and research to do. I'm still learning about epilepsy and seizure disorders! I need time to catch up!! Laugh! We don't know when our return appointments will be yet. Hopefully our next trip will give us answers on the WHY's of a few things!
Thanks so much for your support and for keeping up with us
|Posted by Angie on December 17, 2010 at 1:52 PM||comments (1)|
Ellie and I got to spend a few days earlier this week in Rochester at Mayo. What an amazing, wonderful, brilliant place to be! As we left the clinic on Wednesday, I sat in the shuttle bus thinking that if I were in the health field this would be the ultimate place to work.
We went up to Rochester on Monday. The drive up was a little slow and tense with the snow/road situation.
Tuesday morning Ellie had ADLA testing with the speech pathologist. The testing shows developmental level and best practices to use in an educational setting. This is somethign we did only because we were already coming. It'll be good to have in the recordbooks for educational purposes and as good baseline data to prove growth later on. We spent the rest of the day taking in all the city has to offer.
Ellie needed to be sleep deprived for Wednesday morning's test so we spent a late night watching some interesting program about the reintroduction of wolves out west
Wednesday mornign we had to be up by 4:30 (which ended up being a 4 3/4 hr night.) Sleep depriving Ellie is tricky because she really doesn't require a lot of sleep! Mommy on the other hand appreciates sleep.While I love to be the night-owl, the early-bird stuff isn't my cup of tea! Being BOTH certainly effects me negatively! Laugh!
So, Ellie's test Wednesday morning began at 7:30. A repeat EEG to see how the seizure meds are working. As usual, it was a challenge to get the cap and electrodes all well connected. Ellie did fall asleep right on schedule and slept well for her testing. We finished testing before 10.
Our follow-up review with Dr.Renaud was just before 2pm. She took tons of time and explaining to tell Ellie and I that her EEG is still very abnormal. The EEG reported much abnormal activity on the L & R central and L temporal regions while awake and asleep. This could be telling us a couple things...and we have no way of knowing now which is the case. Either it's fewer regions than last testing because the meds are positively effecting her or this time it just happened to see different areas acting up than before. Either or both could be the case. We know that the meds are having a positive effect because we've seen positive changes. So, Dr.Renaud opted to up Ellie's meds by 25% in hopes of eliminating more, if not all, of the activity. We're hopeful that more meds will mean more progress for Ellie because of less seizure activity and interruption in her processing.
Dr. Renaud also reported back to us on a genetic issue they found. The geneticist suggested that it's such a small issue they do not believe it to be the cause of Ellie's delays. To be certain, we will follow up with blood samples from both Nicholas and I for them to examine.
So overall, a fabulous trip! Great news! Great people!
God is good!
|Posted by Angie on November 17, 2010 at 9:40 PM||comments (2)|
Over the course of the last few months, I've done two bible studies. Both of the studies were authored by Beth Moore. The first was "Believing God" and now "Daniel." One thing Beth stressed at one point was that if we read scripture we can know that when we ask God for something (so long as it fits into His will) we can know that He answers it. Beth suggests that it's answered right then upon our request but that often times God has a different time frame for revealing that answer than we have in mind. I was expressing today how shocked I am every time I hear her speak and was reminded that this *IS* what we've been praying for. It absolutely IS! I feel like the last 2 months God has revealed a lot of answered prayers.
Since Ellie's regression, I have prayed repeatedly that He return her abilities to her. Going through Beth's study I believe now that He answered those prayers the first time I asked them and has little by little revealed those answers to us. It has been 2 years, 1 month, and 3 days since our initial diagnosis of "autism." In early October Ellie said her "first word" since regression. It was the word "more" and every time I hear it, I nearly fall off my chair. I think it's so shocking because it's been 2.5 years since I've heard her "voice" other than in babble. It's a beautiful, intelligent, blessed voice!
While we were at Mayo, our neurologist and speech specialists anticipated Ellie beginning to learn while on teh seizure medication but thought it most likely she'd begin with 6-9mo. language aquisition. Hearing words like "more" come from Ellie, shows me that God took care of that prayer a long time ago! She's been hearing and saving knowledge and waiting for Him to unlock her little lips to show us that answer.
On October 29th - Ellie started saying "bubbles" (not a bad second word!) I laugh because I really expected the whole entire process from "mama" to "dog" etc. I never dreamt that God would answer our prayers in this way - man HE is incredible! On the 29th while saying "bubbles," Ellie also began combining her two words into "more bubbles." She uses it completely appropriately and looks to the jug of bubbles when saying it. Thrilled doesn't even begin to explain this emotion.
On the 14th of November, we added the word "butter." We were having dinner and after Ellie ate the butter from her sweet potato she started to fuss and pointed to the butter on teh table and said "butter." I promptly gave her another piece of butter for her potato. We did this mutiple times. The last couple times she combined to say "more butter." Amazing, amazing, amazing!
Also this week we regained the nod for "yes." This is really exciting because we'd lost it for a month or so. Beign able to shake her head "yes" is so helpful when it comes to her preferences. Life is so much simpler if i can present her two choices and allow her to chose by saying "yes" or "no."
On the morning of the 16th we got the word "outside." It was just once, but completely clear and appropriate. Today on the 17th we got the word "cat" and the combination of "my cat" multiple times. At speech today Ellie said "toes" five times while trying to put her socks onto her feet.
While she can't say most of these words on cue yet, she's using them to express her desire for something which is fabulous, wonderful and completely appropriate.
To see her so suddenly expoding with language is such an answer to prayer. I know from my educational background how kids learn language - it doesn't begin with words like this, used appropriately in the right context, and said so clearly and with such purpose. I know that God has been at work in a multitude of ways preparing Ellie for this unveiling. So, if any of you wanna see a walking, TALKING, beautiful little miracle... give me a call... we're open to visitors.
We have so very much to be thankful for!
|Posted by Angie on October 29, 2010 at 10:09 PM||comments (1)|
At speech therapy today Ellie said "bubbles" HONEST! By the time our 2hr session was done with speech/ot she'd probably said it 15 times. The first time I almost fell off my chair and every time she said it I was so utterly shocked I could not speak! Amazing! Blessed! Filled with hope! GOD is good!
We tried and tried to get her to say it for Daddy - with no luck.
Speech and occupational therapy have been going really well. Ellie seems to enjoy her time with both Laura adn Makenzie (so long as they don't do puzzles or hand-over-hand LAUGH!) We're so glad to be working with such a professional crew!