Saturday, September 29, 2012

Alert Bracelet or Not?

This past spring Ephraim had to be taken by ambulance to the hospital for some stomach issues.  He was constantly being asked questions that he couldn't answer, and probably had no knowledge of them even speaking to him.  Luckily, I was there with him the whole time, but even then when I said he was non-verbal, they would still try to get him to talk to them.  Ever since then I have wondered if we should have some sort of informational jewelry or whatever for him (and even the other children).  I think about how there is always the possibility that something could happen and Eric and/or I may not be there or be able to respond.  If this was to happen, the youngest 2 children would have no way to give any information about themselves or us. 

Now, even more so, with Ephraim's official diagnosis, Eric and I are leaning towards getting him a bracelet (or something) that states his name, date of birth, and the fact that he has Autism and is non-verbal.  But, am I jumping the gun?  I think sometimes that maybe I am, but then I think about how Ephraim doesn't respond to his own name, not to mention to people he doesn't know.  I don't want to "advertise" info, but on the other hand, it is vital information to make sure he is safe and understood in the event of an emergency.

So, if I do get him one, do I put all the information on the back of the band, which would mean the person reading it would need to take it off him, which may or may not be a disaster in and of itself?  Or do I put the information on the front where anyone can read it?

To be honest, I'm not ashamed of his diagnosis and lack of verbal skills.  That isn't why I'm not sure about putting in on the front.  I am more concerned that others may take it the wrong way, or that he himself may one day find it to be a "label" or a "flag" to others.  Does this make any sense? 

I am considering doing one for both Bretton and Lorelai as well, considering anything can happen to either of them as well and Eric and I may not be there or respondent for them either.

So, what do you think?  I am looking for honest, yet respectful, opinions. 

Friday, September 21, 2012

A Bittersweet Day: My son has Autism

Today, Ephraim had his psychological evaluation.  In case you don't remember, we have been pretty sure for a long time that the results would be Autism Spectrum Disorder, but since every person with Autism is different, just as every person who doesn't have Autism is different, we couldn't be sure.  We wanted an evaluation done as soon as possible as we know how important it can be to start services early.  It took awhile, but we finally got the referral and the process started.

The two part observation was done prior to today and the information from that was sent to the psychologist.  Today, the psychologist asked us a million questions, observed Ephraim playing at the same time, and then did some of his own "testing" and interaction time with Ephraim.  Two huge thumbs up to both the psychologist and to Ephraim!  Dr. D (that is what I will call him) was great with Ephraim and you could see that he loves children and his job.  (He said he has evaluated over 6,000 children/teens!)  Ephraim did awesome.  He was his usual happy self, and allowed Dr. D to do a lot of things that we weren't sure he would allow.  E did push him away a few times, "complained" about a number of things, but all in all he handled the whole session (about 2.5 hours) very well. 

Dr. D explained at the end of the evaluation what he thought, but Eric and I weren't sure what he meant exactly so when he asked if we had questions I said I wanted clarification.  Dr. D had made it sound to us like he needed to score the test first but did see autistic tendencies in Ephraim.  When I repeated what I heard him say and asked if that meant he was going to be making his diagnosis after the scoring, he hesitantly said, "No.  My report will say that Ephraim has Autism Spectrum Disorder."  I asked about the hesitation and he explained that he didn't want to "blow us away" and Eric and I immediately told him not to worry about that!  We already knew it and were just glad to finally have the diagnosis. 

After we left, Eric and I talked about it.  We agreed it was a bittersweet day.  We are glad to finally have a diagnosis.  We are relieved even, as now we know that we can get the services he needs.   But, we are obviously saddened that we were right.  Part of me wishes that it was in our heads, but part of me doesn't.

I love my son just the way he is, and wouldn't change him for the world! 

Thursday, September 20, 2012

Just another day in the house of W

Well, it sure has been a busy week.  Seems like each week gets busier.  We don't have the money to be making so many trips to and from Farmington, yet we keep managing somehow.  Today was just another day with 2 round trips.  Eric is working right now, so there's one trip, and I had to take Ephraim to the doctor this morning, so there's the other trip. 

The doctor said that she believes E is starting night terrors.  Oh, joy.  Bretton had them soooo bad.  I hope E's don't get nearly as bad as Bretton's were.  (B would attack me in his sleep, once with a knife, because they were so bad.)  She said that because of Ephraim's chromosome deletion and the night terrors, she feels he needs another evaluation by the neurologist.   So, I called and they scheduled him for January, but will change it to a sooner date when the neurologist reads the genetics report and *if* the neurologist believes it is necessary to do it sooner. We thought the trips to Portland would just be once a year for his genetics recheck, but I guess not. :\ 

On a positive note, Lorelai did awesome with Eric this morning.  I was gone from about 9-11, so not very long, but a good start.  I'm hoping to do a 3 or 4 hour trip soon to see how she does when it is long enough for her to need to nurse but not have me here to do so.  She has started using a straw cup, though she doesn't drink much from it and prefers not to do so.  But, it is better than nothing.

Bretton is still at his friends house.  We get him tomorrow after school for the weekend.  He wants to go to the fair so badly, and while we really don't have money to spend, we also don't spend a whole lot of time with Bretton and the fair is once a year, so we may take him with a serious limit on what can be spent.  I'm hoping E can stay with Denise so we can focus more on B.  Though L will need to go with us.  This is the first year that I can go on a ride with B in like 3 years, so I know he wants to go on at least one with me, and probably one with Eric. 

Tomorrow E has his evaluation.  I should be able to post a quick thing tomorrow night, but if not I will add something Saturday.  I can't wait to have it done with and know where we stand, no matter what the outcome is.

Monday, September 17, 2012

More Blood Work at the Geneticist

More blood work today.  But this time, the blood work was to test Eric and I for the same genetic deletion that they found in Ephraim.  This will let us know if we have the deletion and passed it on to him, or if the deletion is newly formed within Ephraim.  You may be wondering what that deletion is and what it means for Ephraim.  Well, the answer can be found if you read on. ;)

So, Ephraim's microarray results showed a clinically significant loss of 15q11.2.   (For Ephraim, he has at least four genes missing in this sector of Chromosome 15.)   An excerpt from the results are as follows: "...Published reports have suggested that this deletion is associated with an increased risk for a variety of neurocognitive disorders including developmental, motor, and speech delays, neurological and/or behavioral problems, and idiopathic generalized epilepsy, with incomplete penetrance and variable expressivity. ..." 

Confused??  Here's a little break down.  Incomplete penetrance means that some people may have this deletion and show no signs of the deletion (therefore usually not knowing that they even have the deletion) and develop normally.  Variable expressivity means that the other people who have this deletion can show any number of developmental delays, which can vary from very little to severe.

Because Ephraim has a significant amount of delays, within all categories listed above except epilepsy (at this time), it is very likely that this deletion is affecting him developmentally.  This deletion however, does *not* mean that he won't have another separate diagnosis.  It is actually likely that he does have a neurocognitve disorder (which we will find out about on Friday).  If he does have a neurocognitve disorder (which as most people know, we are thinking he has ASD), the deletion may have helped play a part in "why".  It is likely that we will never know all of the "why's" though, since genetics is only one of many factors.

Just as a little side note.  Some people like to use Google.  If you so choose to do so to learn more about Ephraim's deletion, please bear in mind that you will mostly find information on 2 different syndromes, Angelman's Syndrome and Prader-Willi Syndrome, neither of which Ephraim has.  To have one of those syndromes, Ephraim would need to be missing a larger portion of the Chromosome.  Yes, the part that he is missing is also missing in people with AS and PWS, but his is only a small portion in comparison which leaves him with no known syndrome at this time. 

Now that we have that information, we are onto his psychological evaluation on Friday to determine whether he has ASD or something else (or nothing at all, which is unlikely).

Saturday, September 15, 2012

Quick Update

So, just a quick update, as I really don't have time this morning (busy day ahead). 

Lorelai is having a real hard time at night.  I am assuming it is teething.  He two bottom teeth have poked through, and I can see the ridges of the two top teeth.  She whines, fusses, and wakes up on a regular basis.  We don't normally do medicine if we can help it, but no one is getting much sleep, especially me, so I am thinking we will try some Tylenol before bed tonight and see if that helps at all.

Ephraim had his second observation on Thursday.  He goes for his psychological evaluation this coming Friday, and we were told by the observationist that the psychologist will tell us his findings at the evaluation.  I am excited, yet nervous.  That may sound weird-- to be excited.  But, when you have known for a while that something is "off" and you just want to get a diagnosis to start services that are really needed, you get excited to know that you are *so* close to finally having an answer. 

Bretton is still spending his school nights with his best friend and family.  They really love having him and while I miss him (we have him on weekends), we are so thankful to have people who treat him like their own son.  The thought was that it would just be for a few months, as we were were under the impression that we would be getting a house, but that is looking more and more like it won't be happening.  So, Bretton may be staying with this other family for the rest of the school year.  Or until we can find something in Farmington in our price range with 3 bedrooms-- which is proving to be impossible right now. :\ 

Eric has been applying to a million places, yet has heard nothing.  He is starting to feel like no one wants to hire him and that there must be something about him that is preventing him from getting a job.  I've tried to tell him that isn't the case-- they don't even know him.  I am praying he finds something soon. 

I'm just chugging along.  Trying hard to not be worried about our finances and to not be stressed.  Enjoying my time home with the children, despite how hard they can be sometimes.  I'm planning on subbing on the days that Eric doesn't work, as long as Lorelai can handle it.  We will see.

Well, that's about all for now. 

Tuesday, September 11, 2012


Well, today we got a call from the geneticist.  Well, the counselor for the geneticist.  She informed us that Ephraim's lab work came back and that there *is* a genetic "issue".  At this time, because we know very little about what it is, what it means, etc, we aren't sharing too much info.  We go back to the geneticist on Monday to discuss the details.  Eric and I have already begun doing some research on what we know so far, and are going to try to come up with a list of questions and concerns to ask while we are there. 

Over the last 2 years, I have known there was something "special" about Ephraim.  Really, over the past nearly 3 years.  I don't know if I have mentioned it before or not on here, but I have known from day one of my pregnancy with him that the child was going to have a very different and very special life.  I don't know how or why.  Call it mother's intuition, call it nothing, either way, I knew.  In my heart I knew that I would be taking him to appointments galore, helping him with basic skills that most people take for granted, etc. 

Over the last year or so, it has become a little more evident to others around us.  It has been slower for some than others, but finally people were realizing that maybe there was something different about E.  Still, very few people believed me as I insisted there was something that would one day be diagnosed.  My thought was a possible ASD (Autism Spectrum Disorder).  I have said right along that he is on the spectrum, and that if he isn't, there is something similar to ASD that he has. 

At E's 18 month WCC, we voiced our concerns to the doctor. She hadn't been his doctor for very long though so she really didn't know E well enough to see the same things we had been seeing all along.  Though, at his 2 year WCC, she said she agreed with us and wanted him evaluated.  When she found out he was already being evaluated, she was glad that we took the initiative to get the ball moving.  (I tell you what:  I am, and always will be, that mother that supports her child through everything and advocates for him (or her) to the fullest.)  Our doctor is great though, and did refer us to the geneticist at his 18 month appointment, despite not being concerned at the time.

When we finally went to his appointment last month, the geneticist said everything appeared normal from the outside, but ran blood work to check for any underlying genetic issues within his chromosomes, etc.  We had high hopes, and figured it would probably come back fine, which would just keep us on the path of evaluations for other things (such as ASD, etc.) with no real answer key.  But, we were wrong. 

You might think at this point that I would be scared.  I'm sure most people would be, but you know, it may seem weird, but I'm not scared at all. I'm a little relieved, and a little saddened, but not scared. I am relieved to know that it isn't "all in our heads" as some people keep saying.  I am relieved to finally start getting some answers so that I can understand my child better, and so that I can help others to understand my child better.  I am saddened to know that there is something genetically causing his delays and behaviors that no one can ever completely change because his genetic make up is what it is.  I am saddened to think about what this could possibly mean for his future.  But, I am not scared.   I shall have no fear of what is or will be-- I am trying my best to remember that there is no fear to be had in anything but the Lord Himself.

Oh, how I am so thankful.  I can't even begin to say all the things I am thankful for.  But for now, let me leave it at this.  I am thankful for a doctor, who though at the time wasn't super concerned, sent us to the geneticist because she knew how concerned we were. I am thankful that he is a happy go lucky kid most of the time, and I am thankful that God never gives me more than I can handle, even when I think otherwise.

Despite the sadness that overtakes me at times when I think of things that E can't do, and may never do, I am also filled with joy by all that he can do, and all that I know I can still try to teach him.  I am filled with pride to be the mother of an amazing, charismatic, charming, quirky, loving child, who I love and adore more than I could ever express.  No matter what, he is and always will be my baby boy who is PERFECT in every way. 

Saturday, September 1, 2012

Lots of ideas!

So, this morning I set up a FB page for my new diaper cake venture.   I a crossing my fingers *and* toes in hopes that this will take off well and can help us make a little bit of money. 

I also made a stork bundle this morning.  I love it!  Cute and simple. :)  I have so many more ideas now, too, but don't want to do too much just yet.   The next item on my agenda is to make a more detailed diaper cake to post a picture of.  I am thinking of having it still be pretty basic, but add a few items like baby shampoo, powder, a bib or two, some wash clothes, etc.  We'll see how that goes!  Some of the other things I am considering in the future are: diaper wagons, mini diapers cakes that are more personalized, mini diaper bassinets, and more!

Anyway, for now I have to go.  I am working on cleaning the bathroom.  Purging stuff that we have had for years and never used, and trying to organize things.  I hate it, but it has to be done, and I would like to have a lot of this cleaning, organizing, and purging done *before* we move!  If we move soon that is.  We will know a lot more next weekend after my in-laws come and look at our top house choices.  I am scared, nervous, and excited all at the same time!