With the announcement of my new pregnancy, and all the chaos that naturally ensues, I'm afraid I haven't been able to update everyone as much as I would like.
Charlie began two weekly sessions of private outpatient physical therapy about a month ago. We are absolutely in love with one of our new therapists. She is engaging, and full of energy. After two sessions with her, Charlie actually took three independent steps! Our other new therapist leaves something to be desired. So much so that I think I would rather cancel that session and do work with him myself at home. At the hospital where Charlie receives services, we were introduced to an orthotist, who fitted him for SMO's, or Supra-Malleolar Orthosis. These are a type of orthotics that are made of plastic, and go inside the shoe, up to the ankle. It provides support, helps maintain a natural foot position.
Well, we received the SMO's, and were informed that our insurance doesn't cover orthotics, so we would be responsible for the $1300 bill (this is the discounted price, of course). UGH. We will be appealing the insurance company for coverage, as I think most medical professionals will agree that these are a medical necessity for Charlie. As a result of all of this, our family is seriously considering moving to Pennsylvania, where children with disabilities can receive medical assistance, regardless of family income. We learned this during an Angel playdate we had with some of the other great Angel families in Pennsylvania.
The good news is that Charlie has made some really great progress in the past few months. He is generally more engaged during his therapy sessions, and seems to have a greater understanding of what we ask him to do. He began learning PECS, which is a picture-based alternative communication system, and is having real success with that. Like I mentioned before, he also took three independent steps during one of his therapy sessions. I have no doubt in my mind that this child will walk, and I think it may be before his 3rd birthday. That alone gives me so much hope for Charlie.
In the next few months, we will begin the application process for preschool. I'm quite nervous about this, as I feel like there is so much pressure to choose the program that is going to help Charlie the most. I've heard too many horror stories about lackluster special needs classrooms to NOT be anxious about this decision.
I believe that's all for now. I hope that I will have a lot more exciting news to post in the next few months!
Monday, March 19, 2012
Wednesday, January 18, 2012
Holidays and beyond
It's been a long time since I've written anything! Our computer came down with a nasty virus, but it's back up and running, and so am I! (sort of).
The holidays were great. Charlie was perfect on the plane ride to Florida and back. Seeing my family was amazing. I was most concerned about my grandparents, and how they would take the news about Charlie's diagnosis, but they were wonderful and supportive. I couldn't have asked for a better family :)
We had our meeting with Social Security- and our application was immediately rejected because we make too much money. I find this hilarious and sad at the same time. But I may be quitting one of my jobs once the school year ends, which I believe will put us right under the max amount. My next step is applying for Medicaid for the Medically Needy. It's also income based, but they have a few more allowances that "lower" your income. We'll see. There isn't a whole lot for a middle class family with a lot of medical bills :/ But that's another blog, for another day!
We were scheduled to have an overnight EEG last week. Charlie would have been checked into the hospital on Tuesday, and released Thursday. It would also have cost us another chunk of money that we don't really have! The developmental pediatrician (yes, the not-so-nice lady who brought our world to a screeching halt via answering machine) was concerned that Charlie might be having staring spells (because I mentioned it, not because she noticed anything), so she ordered a regular EEG. That turned out abnormal, but didn't show any real signs of seizure activity. However, they wanted to do the overnight EEG "just in case". I personally think his "staring spells" are just that- spacing out. He can always be snapped out of it, and has never had convulsions. I had epilepsy as a kid- I'm practically an expert! I'm also beginning to think that maybe doctors are just referring us to other doctors so that everyone can make a little more money? Maybe I'm just being paranoid. In either case, we decided to cancel the appointment. I know what to look out for in case of seizure activity, and I won't hesitate to take him to the hospital in case it. But I'm not sure that it's necessary right now. In case you haven't done all of your research yet, (!) seizures occur in about 80% of all Angelman's patients.
On a more positive note, Charlie's walking has improved greatly in the past month or so. He can now walk pretty well holding onto just one of our hands. Let's cross our fingers for walking before 3! That would put him at the head of the Angelman's pack! :) We have an evaluation next week for private physical therapy, so we will be doing PT twice a week. I think that will help with this last push to get him walking.
Well, that's all for now. Concerts, work, sickness, and travel- we made it through December and January!
The holidays were great. Charlie was perfect on the plane ride to Florida and back. Seeing my family was amazing. I was most concerned about my grandparents, and how they would take the news about Charlie's diagnosis, but they were wonderful and supportive. I couldn't have asked for a better family :)
We had our meeting with Social Security- and our application was immediately rejected because we make too much money. I find this hilarious and sad at the same time. But I may be quitting one of my jobs once the school year ends, which I believe will put us right under the max amount. My next step is applying for Medicaid for the Medically Needy. It's also income based, but they have a few more allowances that "lower" your income. We'll see. There isn't a whole lot for a middle class family with a lot of medical bills :/ But that's another blog, for another day!
We were scheduled to have an overnight EEG last week. Charlie would have been checked into the hospital on Tuesday, and released Thursday. It would also have cost us another chunk of money that we don't really have! The developmental pediatrician (yes, the not-so-nice lady who brought our world to a screeching halt via answering machine) was concerned that Charlie might be having staring spells (because I mentioned it, not because she noticed anything), so she ordered a regular EEG. That turned out abnormal, but didn't show any real signs of seizure activity. However, they wanted to do the overnight EEG "just in case". I personally think his "staring spells" are just that- spacing out. He can always be snapped out of it, and has never had convulsions. I had epilepsy as a kid- I'm practically an expert! I'm also beginning to think that maybe doctors are just referring us to other doctors so that everyone can make a little more money? Maybe I'm just being paranoid. In either case, we decided to cancel the appointment. I know what to look out for in case of seizure activity, and I won't hesitate to take him to the hospital in case it. But I'm not sure that it's necessary right now. In case you haven't done all of your research yet, (!) seizures occur in about 80% of all Angelman's patients.
On a more positive note, Charlie's walking has improved greatly in the past month or so. He can now walk pretty well holding onto just one of our hands. Let's cross our fingers for walking before 3! That would put him at the head of the Angelman's pack! :) We have an evaluation next week for private physical therapy, so we will be doing PT twice a week. I think that will help with this last push to get him walking.
Well, that's all for now. Concerts, work, sickness, and travel- we made it through December and January!
Friday, December 2, 2011
Gratitude
I am just now beginning to register the amount of love and support I've received these past few days. I keep reading these insightful, thoughtful responses to my post over and over again, unable to believe how lucky I am to have such wonderful friends and family.
So today I am grateful. Grateful for the people around me, and grateful that I have such an amazing little boy who has allowed me to experience this.
I am also grateful for the help we've received from our Early Intervention therapists over the past year. Through the state, we're able to receive occupational and physical therapy once a week, and special education, which works on basic cognition skills, twice a week. We don't pay anything for these services. Here is our special educator, giving Charlie some heavy-duty stimulation before we sat down to do some "work" this morning:
Our special educator was actually schooled as an occupational therapist (OT) in the Philippines, but hasn't yet switched his certification over, so he works as an SE. That means that we get some "extra" OT twice a week. I'm VERY grateful for him!
I will be introducing the rest of our awesome therapists during the next few weeks. In addition to Early Intervention (EI), we also take Charlie to myofascial release therapy, and I am currently looking into getting Charlie private physical, speech, and occupational therapy. I'm getting exhausted just thinking about it! I guess today I'm also grateful for coffee...
That's all I have to share with you today. Thank you all again so much for being such incredible and inspiring pillars of support.
So today I am grateful. Grateful for the people around me, and grateful that I have such an amazing little boy who has allowed me to experience this.
I am also grateful for the help we've received from our Early Intervention therapists over the past year. Through the state, we're able to receive occupational and physical therapy once a week, and special education, which works on basic cognition skills, twice a week. We don't pay anything for these services. Here is our special educator, giving Charlie some heavy-duty stimulation before we sat down to do some "work" this morning:
Our special educator was actually schooled as an occupational therapist (OT) in the Philippines, but hasn't yet switched his certification over, so he works as an SE. That means that we get some "extra" OT twice a week. I'm VERY grateful for him!
I will be introducing the rest of our awesome therapists during the next few weeks. In addition to Early Intervention (EI), we also take Charlie to myofascial release therapy, and I am currently looking into getting Charlie private physical, speech, and occupational therapy. I'm getting exhausted just thinking about it! I guess today I'm also grateful for coffee...
That's all I have to share with you today. Thank you all again so much for being such incredible and inspiring pillars of support.
Wednesday, November 30, 2011
History and diagnosis
This blog marks a lot of firsts for me. My first time blogging. My first time sharing my thoughts with a large audience. My first time revealing that my son has Angelman's syndrome.
I created this site so that friends and family can learn about Charlie's syndrome, and can stay updated as we embark on this long journey.
OUR STORY:
As most of you know, I had a fairly normal pregnancy. I had a pretty common labor "horror story"- over 30 hours of laboring, resulting in an emergency c-section. But this sort of thing happens all the time, so I didn't really think much of it.
Charlie was an awesome baby. He hardly cried, he slept pretty well right from the get-go (yes, as long as he had his pacifier), and he learned to smile and laugh right away. He hit most of his milestones right on target, until he was about 8/9 months. He was having a really hard time learning to sit up unassisted. He also didn't show any desire to learn to move on his own. He was content just to hang out, and crawling just didn't seem to be in the cards for him any time soon. Around this time, we also started noticing that Charlie didn't babble like a typical baby. He made noises, but they didn't seem directed at anything or anyone. He also didn't imitate. This was our first big red flag. I had always heard "babies are natural imitators". Being that this was my first child, I didn't realize how atypical his behavior was until we started socializing with other babies his age.
When we moved back to New Jersey from Florida around his first birthday, we switched to a new pediatrician who was concerned about his development. He referred us to Early Intervention, and we were approved to begin therapy services soon after. I went into panic mode at this point. I started researching every possibility for his delays. I joined a website for parents with delayed kids. It was on this website that I found out about Angelman's syndrome. When I googled it (as I had googled every other possibility) I got really nervous. Here are the symptoms for Angelman's:
Developmental delay, functionally severe
Movement or balance disorder, usually ataxia of gait and/or tremulous movement of limbs
Hypopigmented skin and eyes
Feeding problems during infancy
Attraction to/fascination with water
Strabismus
And the big one:
Behavioral uniqueness: any combination of frequent laughter/smiling; apparent happy demeanor; easily excitable personality, often with hand flapping movements; hypermotoric behavior; short attention span
The more research I did, the more sure I was that Charlie had this disorder. But because we weren't in a great place financially, it was a little longer before we could get the testing done. I think I was also in denial that he could have this. The odds are 1 in 30,000, for crying out loud! We don't have that kind of luck...
About 2 months ago, we had our first visit with the developmental pediatrician, who ordered a FISH test, which is a test used to determine if there is a deletion on the 15th chromosome. If there is a deletion, it is one of three things- a microdeletion, which doctors don't know much about, a larger deletion on the father's copy, which is Willi-Prader syndrome, and a larger deletion on the mother's copy, which is Angelman's.
I got a phone call about 3 weeks after the first test, saying that they wanted to run more genetic tests, and they sent me a new lab order. On this lab order, written under diagnosis was "Abn. FISH", and they were ordering a methylation test, which is a closer look at the 15th chromosome. I completely freaked out. I had to call the doctor three separate times before she called me back and explained that yes, there was a deletion, and they wanted to run a more thorough test to see if it was Angelman's or Willi-Prader.
This was my first moment of real despair. I was heartbroken. Never mind the fact that I had to track the doctor down, only to have her tell me over the phone that there was a deletion. This was the my first realization of the enormity of our situation. I couldn't eat for days, I lost weight, and my work suffered.
But life returned to normal, sort of. We went back and had more blood work done. I saw the doctor 3 weeks later- no test results. Finally, a few days ago, after getting home from work at 9 at night, I noticed there was a message on the answering machine from the doctor. Chuck and I listened, and this is how it went "Hi, this is Dr. _____. I just wanted to call and let you know that the test for Angelman's came back positive. If you need a copy of the results, call my office and we can send you a copy."
Yep, that's it.
And just like that, our world was turned upside-down.
The prognosis for Angelman's isn't great. Charlie probably won't walk before his third birthday. He may never talk, and if he does, he probably won't have more than 10 words. He will probably require lifelong care, and will be severely mentally disabled. Just typing that breaks my heart.
I'm still digesting this all, even as I write. Granted, it hasn't changed our everyday life. We will still have therapy 5 times a week, go to work, socialize with friends. But thinking about our long-term future is downright scary.
So, that's that. I'll be updating this blog as much as I can, between the doctors' appointments, the therapy, and general craziness that is our life.
Thanks for reading, and for taking part in this journey with us...
I created this site so that friends and family can learn about Charlie's syndrome, and can stay updated as we embark on this long journey.
OUR STORY:
As most of you know, I had a fairly normal pregnancy. I had a pretty common labor "horror story"- over 30 hours of laboring, resulting in an emergency c-section. But this sort of thing happens all the time, so I didn't really think much of it.
Charlie was an awesome baby. He hardly cried, he slept pretty well right from the get-go (yes, as long as he had his pacifier), and he learned to smile and laugh right away. He hit most of his milestones right on target, until he was about 8/9 months. He was having a really hard time learning to sit up unassisted. He also didn't show any desire to learn to move on his own. He was content just to hang out, and crawling just didn't seem to be in the cards for him any time soon. Around this time, we also started noticing that Charlie didn't babble like a typical baby. He made noises, but they didn't seem directed at anything or anyone. He also didn't imitate. This was our first big red flag. I had always heard "babies are natural imitators". Being that this was my first child, I didn't realize how atypical his behavior was until we started socializing with other babies his age.
When we moved back to New Jersey from Florida around his first birthday, we switched to a new pediatrician who was concerned about his development. He referred us to Early Intervention, and we were approved to begin therapy services soon after. I went into panic mode at this point. I started researching every possibility for his delays. I joined a website for parents with delayed kids. It was on this website that I found out about Angelman's syndrome. When I googled it (as I had googled every other possibility) I got really nervous. Here are the symptoms for Angelman's:
Developmental delay, functionally severe
Movement or balance disorder, usually ataxia of gait and/or tremulous movement of limbs
Hypopigmented skin and eyes
Feeding problems during infancy
Attraction to/fascination with water
Strabismus
And the big one:
Behavioral uniqueness: any combination of frequent laughter/smiling; apparent happy demeanor; easily excitable personality, often with hand flapping movements; hypermotoric behavior; short attention span
The more research I did, the more sure I was that Charlie had this disorder. But because we weren't in a great place financially, it was a little longer before we could get the testing done. I think I was also in denial that he could have this. The odds are 1 in 30,000, for crying out loud! We don't have that kind of luck...
About 2 months ago, we had our first visit with the developmental pediatrician, who ordered a FISH test, which is a test used to determine if there is a deletion on the 15th chromosome. If there is a deletion, it is one of three things- a microdeletion, which doctors don't know much about, a larger deletion on the father's copy, which is Willi-Prader syndrome, and a larger deletion on the mother's copy, which is Angelman's.
I got a phone call about 3 weeks after the first test, saying that they wanted to run more genetic tests, and they sent me a new lab order. On this lab order, written under diagnosis was "Abn. FISH", and they were ordering a methylation test, which is a closer look at the 15th chromosome. I completely freaked out. I had to call the doctor three separate times before she called me back and explained that yes, there was a deletion, and they wanted to run a more thorough test to see if it was Angelman's or Willi-Prader.
This was my first moment of real despair. I was heartbroken. Never mind the fact that I had to track the doctor down, only to have her tell me over the phone that there was a deletion. This was the my first realization of the enormity of our situation. I couldn't eat for days, I lost weight, and my work suffered.
But life returned to normal, sort of. We went back and had more blood work done. I saw the doctor 3 weeks later- no test results. Finally, a few days ago, after getting home from work at 9 at night, I noticed there was a message on the answering machine from the doctor. Chuck and I listened, and this is how it went "Hi, this is Dr. _____. I just wanted to call and let you know that the test for Angelman's came back positive. If you need a copy of the results, call my office and we can send you a copy."
Yep, that's it.
And just like that, our world was turned upside-down.
The prognosis for Angelman's isn't great. Charlie probably won't walk before his third birthday. He may never talk, and if he does, he probably won't have more than 10 words. He will probably require lifelong care, and will be severely mentally disabled. Just typing that breaks my heart.
I'm still digesting this all, even as I write. Granted, it hasn't changed our everyday life. We will still have therapy 5 times a week, go to work, socialize with friends. But thinking about our long-term future is downright scary.
So, that's that. I'll be updating this blog as much as I can, between the doctors' appointments, the therapy, and general craziness that is our life.
Thanks for reading, and for taking part in this journey with us...
Subscribe to:
Posts (Atom)