A time to give THANKS

After reading another mother's blog, I decided to copy off of her idea of giving thanks for Angelman Syndrome. It is easy for me to point out the negatives associated with this disorder, but today I want to focus on all the positive unexpected things that have come out of this diagnosis.

Because of Angelman Syndrome, I'm thankful...

1) that I have learned just how amazing our creator is. After learning more about genetics, it is impossible not to believe in God.

2) that my love for James has grown even more because of the father that he has become.

3) that I learned that I'm a much better mother than I ever thought I could be.

4) that I have a child that truly loves life and loves to love others.

5) that I have become somewhat of an expert in organization and execution of tasks.

6) that I truly cherish every new sound that comes from Kendal's lips.

7) that God chose me and James to raise this amazing child.

8) that I appreciate all of Kendal's milestones for what they are, miracles. Nothing is ever guaranteed.

9) that I now have a passion for other families that have special-needs children.

10) that I now realize just how blessed we are.


Give thanks to the LORD, for he is good; his love endures forever.
-1 Chronicles 16:34

A Mini-Schedule

This is something new we are trying, a mini-schedule. It was a recommendation from the behaviorist, so the speech therapist has helped me get started. It is simply just some pictures that show our nightly routine. We go down the list: Play Time, Bath Time, Brush Your Hair, Brush Your Teeth, Take Medicine, Drink Milk, Read A Book, and Go To Sleep. Once we finish an activity she participates by flipping over the picture before moving onto the next task. This is supposed to teach her about doing things, even things we don't like that we must do. She may not like Brushing her Teeth, but she sees that after we brush teeth we get to read a book. The behaviorist said that most kids respond well to seeing what is planned out and going through the routine. She has been very excited by the chart and we will keep you updated on how this works out.

Closure

We finally have the last piece of the puzzle on Kendal's diagnosis. Dr. Charles Williams called me back yesterday afternoon after reviewing Kendal's full lab workups, and said that her definite mechanism is a "non-deletion imprinting defect". This cause (mechanism) occurs in about 3% of all Angelman Syndrome children. It seems that it is so rare that the Angelman Syndrome Foundation are unaware of any child in TN with this type of mechanism. I did however make contact with a family in Illinois whose son has the same type as Kendal. As most of you know, I am quite anxious to talk to other families.

This closure thing has been really nice because I now know all the information there is too know about how this happened. The doctor also confirmed that the recurrence risk is less than 1%. We often think of having another child and although it would be a total blessing to have another child like Kendal, it would also be nice to have a "normal" developing child. I hate to use the word normal because I'm not quite sure what it means in this case. I know that I have missed some milestones with Kendal that would be neat to see with another child. It's funny to think that although I have missed some of these things, I have learned and grown so much because of her. She has changed my life in ways I could never have imagined. I remain in awe of this gift.

Finally an answer......well, not really

Friday morning I received an email from our genetic counselor. The email stated that the lab results were normal. Period.

I was very upset, but first let me explain what we were testing for.

Basically, there are 4 different mechanisms that cause Angelman Syndrome:
Deletion Positive
Uniparental Disomy
Gene Mutation
Imprinting Defect

This last test result was on the Imprinting Defect. Kendal has been tested for all these mechanisms and they have all come back normal.

We apparently are missing something. The doctors diagnosed Kendal off of a DNA methylation test which indicted that there was a particular defect with a particular gene sequence on her 15th chromosome. Because the methylation test showed abnormal, they should be able to isolate the exact mechanism which caused AS. Since we have tested for the different mechanisms and everything is normal, what am I supposed to do now but question the diagnosis in the first place.

What was so upsetting is the fact that after all these months (8 to be exact), I know nothing more than I knew in February when she was diagnosed. Even more upsetting was the fact that the genetic counselor sent an email with no call of explanation or guidance.

I, of course called Vanderbilt Genetics and left a detailed message to have someone call me. I then called Terry Jo Bichell (visiting scholar at Vanderbilt) to get her advise. I, of course, had to leave her a message. I then called Doris just to vent and thankfully she totally understood where I was coming from and my frustrations. THANK YOU DORIS!!

I then decided to call the Angelman Syndrome Foundation in Illinois to see if they could guide me of what to do next to get some answers - including does Kendal even have AS if they can't find the mechanism? They referred me to Dr. Charles Williams at the University of Florida (please see link http://www.peds.ufl.edu/divisions/genetics/faculty/williams.htm). They said he was one of the top experts on AS in the country and he can could probably point us in the right direction. I sent him an email briefing stating testing that had been done and questions of what to do next. To my utter disbelief, he called a couple of hours later to speak directly with me about Kendal. (At this point, I still had not received a call back from anyone in my own state). He seemed very interested because he said Kendal's situation seems very very rare. Remember, out of the cases where they receive an abnormal DNA Methylation, approximately 95% of the cases are deletion, UPD, or mutations. He thinks that the Imprinting test we just had only tested for a deletion in the Imprinting Center not a defect. Just off of what I told him, he thought that we needed to look closer at the Imprinting Center for a defect and not a deletion. He asked if I could fax all of Kendal's labs down so he could take a look at what tests have been run and figure what is the next best step.

CAN YOU BELIEVE THIS? A doctor that has never even met us seems more interested in helping us than any of the doctors we have personally seen. I expressed my frustration with the doctors up here and he reminded me that Kendal is very different from most children with AS and that they probably have not had a case like hers and do not know what steps to take. I felt like a huge weight has been lifted off my shoulders after talking with him. I was reminded once again that GOD always provides.

I will fax the lab work to him Monday morning and he said he would try to review it and get back with me either Monday afternoon or Tuesday.

Later on my way home, I finally received a call from Vanderbilt Genetics. Another genetic counselor called and tried to help me. I was on the phone with her for over 30 minutes and I'm not sure even what we discussed. She was saying one thing, I was trying to say another. One thing I have learned is that genetics is a very different field and counselors or geneticist aren't always the easiest kind of people to converse with. I think the lady did not understand why I wanted an answer. She felt like Kendal has AS so why bother with any additional testing. Well for a couple of reasons I explained: recurrence risk, closure of understanding what happened to cause this, final confirmation of diagnoses, and reaching out to other families with the same issues. The genetic doctor that we have seen has left Vanderbilt so they will be reassigning me to another doctor (one of two doctors that has more experience with AS). The counselor felt like I needed to come back in fairly soon to discuss what we are looking at. I explained that my frustration is the fact that I don't feel like anyone is trying to figure out what is going on. I would think that if her type is so rare that they would be inquisitive enough to be proactive in connecting the dots. Someone is supposed to call me Monday to come back in. I almost felt bad for the lady when we got off the phone. She did not know anything about our case and here I threw everything in her face along with a bunch of criticism. She was as helpful as she could be and maybe she will pass on my frustrations to someone that can help me.

Still have not heard back from the behaviorist. I called TEIS on Wednesday and she stated she still had not received a report. It will be 2 weeks on Tuesday that we have been waiting for a report that should have been completed within the week of the evaluation. I dare TEIS to deny coverage because Kendal is not autistic. At this point, I am ready for a fight. BRING IT ON!

Still Waiting

Still waiting on the latest round of lab results concerning the "imprinting defect" genetic mechanism they are testing on Kendal. The following are some notes I found on the Angelman Syndrome Foundation website regarding this possible mechanism that Kendal may have...

A fourth class of AS individuals (3-5% of cases) have inherited chromosome 15 copies from both mother and father, but the copy inherited from the mother functions in the same way that a paternal chromosome 15 should function. This is referred to as an “imprinting defect”. A small percentage of AS individuals with imprinting defects have very small DNA deletions in a region called the Imprinting Center (IC) 14-17 but all AS individuals with IC defects have abnormal DNA methylation changes in this region. The IC is located some distance from the UBE3A gene but it is still able to regulate UBE3A by a complex mechanism that is the subject of intense research. In some cases, AS caused by imprinting defects can recur in more than one member of a family. It has recently been discovered that assisted reproductive technologies (ART), such as in vitro fertilization (IVF) or intra-cytoplasmic sperm injection (ICSI), are associated with a few cases of AS due to the non-deletion type of IC defect.

Individuals with AS due to IC defect can have either inherited this mutation from a normal mother or have received the mutation spontaneously (i.e., not inherited). In the former case, the theoretical recurrence risk is 50% and in the latter (i.e., spontaneous mutation) the risk is believed to be less than 1%.

Genetic Mechanisms - An Easy Illustration

I have read a ton of information on Angelman Syndrome and I will tell you I still struggle to understand the complexities of genetics. On the new www.angelman.org website, I found a very easy to understand illustration on the different genetic mechanisms of AS. Please see the following link.

http://www.angelman.org/healthcare-professionals/genetic-mechanisms-of-angelman-syndrome/

They believe that Kendal has the "Imprinting Defect" and they are currently running DNA testing to confirm the defect. The blood work was done about 4 weeks ago and I'm not sure what the turn-around time is for this kind of testing. I think it's so weird because Angelman Syndrome is so rare, and then to have a child that is even more unique because she is not like most children with AS. Kendal is literally 1 in a million.

Don't Put This Off

I wanted to remind everyone that with the years flying by it is so important to get pictures made. It's something that we all want to do but never seem to have the time. Please, if you haven't had any pictures in a year, stop everything and get some pictures made. It is so worth the time and energy to capture our lives and memories.

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This past weekend, we had some professional pictures taken. It's something we have talked about doing for a long time and just never got around to it. So glad we did though. The pictures turned out so well!! Here are just a few of my favorites.

To PEC or not to PEC

The behaviorist came over Tuesday morning to do an evaluation on Kendal. She was very pleased with Kendal's comprehensive level. It did not take long though for her to give feedback stating that we very much needed to get Kendal on a communication system. Although the signs are great and we still want to push for additional signs, at this point, the behaviorist felt like she needed additional outlets to express herself. The basic system using pictures is called PECS (Picture Exchange Communication System). Simply enough, it's just a system of getting her to use pictures to express her wants and needs. The frustration and aggression that Kendal has been exhibiting is just a result of her unable to communicate and this is the only way she knows to act out or show dislike.

PECS: http://www.pyramidproducts.com/pecs.html

We tried this system last year (with a different speech therapist) and Kendal did not seem to respond to it. Of course, there is no telling why. It could have been that she was not ready for such a system at the time. The behaviorist also wants to help get Kendal through her therapies by teaching her: first_________, then___________. The goal is to teach her that she might have to do something she doesn't want to do, but after that we can move on to something she does like. We will begin to work with our speech therapist in trying this out next week. The behaviorists said she recommended at least a few visits with us to help show us how to introduce and encourage the system and also help us learn different techniques in dealing with Kendal's behavior. The state has already said they will only authorize this treatment for children diagnosed with Autism (can you guess how mad I was after hearing that?), but I will wait to see what the behaviorist completed evaluation says and then I will fight TEIS for services. I believe my insurance would cover it all except I would be responsible for any co-pays. Normally TEIS would cover the remaining expenses. Life has been boring lately - I'm almost looking forward to a fight. They don't know who they are messing with.

We have physical therapy in the morning and I hope Kendal will be back on track. She missed 3 weeks in a row of PT due to sickness and vacation, and last week when we started back up she was very frustrated acting throught he whole thing. And that is very unusal. I thought maybe she had forgotten Amber but I don't think that was it because she kept trying to kiss her (sucking up so she doesn't have to work). Who knows?

Things we have been considering...

A lot has seemed to go on the last week or two concerning possible changes in Kendal's IFSP (Individual Family Service Plan). We have been eagerly awaiting the evaluation of Kendal by the behaviorist. As of this morning I still had not heard from anyone so I called the company that is supposed to handle this stuff and I actually received a call back stating they would be at the house tomorrow morning at 7 to evaluate Kendal. The behaviorist was not familiar with Angelman Syndrome (surprise, surprise) and said she would look it up tonight to try to get somewhat familiar with it. I thanked her for that because I find that I spend quite a bit of time educating people about the syndrome and believe me when I say I have no business educating people on anything. I will update you concerning the recommendations the behaviorist gives up tomorrow.

We have again lost our Service Coordinator with TEIS. We are now starting on our fourth coordinator that we have had in 18 months. I image it is not a very fun job with mothers and fathers like me having to continually call to get things handled regarding our children. TEIS has been helpful in many ways, but lately I have felt that the last thing they are concerned about is helping the family, which from what I understand used to be their main focus. Kendal can only remain on their program till March 2009 and at that point, services (therapies) are transferred to the public school system. I have been warned by therapists and doctors that the quality of therapy is nil and that speech and occupational therapy will both need to be handled privately where Kendal can get the attention she needs in these capacities.

We were looking at enrolling her in Rutherford County School system in March (if we're still here) for one day a week, for a 30 minute session. The purpose of this would be to begin trying out a communication system for Kendal. The school system would provide one for her that we could use outside of her therapies. At first I thought this was appealing because I want to give her anything I can that may help her communicate with us. However, I spoke with Suzanne (our speech therapist) and she did not really think that Kendal was ready for something like that just yet. I then began to think about the school system and the sometimes ill-qualified people that work with our children. I am not too sure that the person in the school system would be adequately trained to provide such a specialized service. I think we will wait till we move to Mount Juliet and maybe explore this in another 6 months to a year. Kendal's progress is slow to me and of course I constantly wonder if she will ever talk. Suzanne seems determined that Kendal will talk despite the diagnosis. I don't want to be negative but I also don't want to hang all my dreams on her talking. It's something that I pray for, but who knows what God has in store for her.

On a side note....TWO more showings on the house over the weekend. Still no offers.

A Lazy Sunday

After our trip from Indiana, I took this picture of Kendal the following day - Sunday. What is unique about this picture is that Kendal is not the kind of child to just fall asleep in the middle of the floor while playing. This just demonstrates how exhausted she must have been after our vacation week!

Must See!!

The Angelman Syndrome Foundation has just relaunched their website! They have totally redesigned the website making it much easier to find information within the AS community. Please check it out when you get the chance.

http://www.angelman.org/

Just to fill you in

I have learned that this blogging thing is similar to exercising - once you get out of the routine, even for just a couple of days, it's really hard to get started again.

Our vacation was really great this fall because we didn't stress ourselves out about trying to pack in a lot of things on our days off. The first several days we spent time around the house. We voted early, went to a matinee movie, ran errands, and laid on the couch watching TV. I will tell you - this was a dream come true.

Kendal maintained her Speech Therapy on Monday and Wednesday. We talked with Suzanne (Speech Pathologist) about whether Kendal will need a communication device since she is doing so well with sign language. She did state that Kendal will still need a communication system (in case she doesn't start talking, of course!) because even though the signing is great, it will not be enough to function out in the world. If she is in school, she needs to be able to communicate with the teachers and fellow students and not everyone that she comes into contact with will know signs. I had never really thought of it that way. I guess I just assumed that I will always be by her side. I want Kendal to be a strong independent woman and so as we journey through this course we will determine her needs as we see fit.

Last Thursday, we headed up to Crawfordsville, Indiana to visit my sister Katie, her husband Mike, and their two beautiful daughters Marilyn and Olivia. Thursday night we had a great dinner at The Beef House. Friday, we had the opportunity to pal around with Katie and meet some great people, including her boss David and some friends at the local coffee shop. James headed back to the house for a nap while me and Katie attended Olivia's Halloween Party at school. That was really fun!

Before we knew it, it was time to get the costumes on for trick-or-treating Friday night. We went out for just a little bit with Kendal and the girls before heading back to the house to hand out candy. Now Katie had tried to prepare me for what was to come, but NEVER and I mean NEVER had I seen or could have imagined so many trick-or-treaters. I think everyone in Crawfordsville drops their children off on Main Street (where Katie lives). People were lined up single-file in 2 separate lines up her walk-way. You would have thought we were handing our crack to a bunch of addicts. It was totally crazy but very fun. Me, James, and Kendal are not used to all the running around so we were happy to head up to bed that night due to our exhaustion.

We came back to TN on Saturday and even though our trip was very short to Indiana, we were so happy we could go visit them. On the way back through Bowling Green, KY we stopped off to see James, Debra, and Destiny (James' father, mother, and niece). It was really good to see them too although the visit was under an hour. It was getting dark and we wanted to be home so bad. Luckily with James' family now living in Kentucky we will get to see them more often.

This week has been a major adjustment trying to get back in the swing of things. Work has been especially busy and I am trying to get caught back up on the different things going on with Kendal (will post an update on that later this week). With everything going on in the world, we were truly blessed to have a week to ourselves. God is so good to us!

Vacation Pictures