Merry Christmas!

Christmas is here and will be over way too soon. It has been such a beautiful day and I am so thankful to spend the holiday with our loved ones.

I had gotten the Faith Hill Christmas CD and have fallen in love with "A Baby Changes Everything". Listen to it here http://music.aol.com/new-releases-full-cds/#/1.

Is it December already?

I keep asking myself, "Is it December already?" I can't believe how fast time is flying by. This week has been the usual with Speech Therapies on Monday and Wednesday, Physical Therapy today, and Occupational Therapy tomorrow at 6:30 in the morning. Ohhh, how I love the weekends!

On Tuesday we took Kendal to her new geneticist. This doctor is mainly a research doctor that only sees patients two days a month. He spends the rest of his time doing research mainly on Angelman Syndrome and research on gene therapy for genetic disorders. Both me and James really, really liked him. He was very personal and easy to talk too; which, for a geneticist is pretty unique. He spent over two hours with us covering so much information that I wish I had taken a audio recorder with us. I still am processing some of the things he told us and that is my job for the next 6 months until we see him again. Just to try to process and understand what we are dealing with.

I think as parents we always try to see the bright side of things when it comes to our kids. Of course, I walk in the office like I know it all because I am an "expert" on Kendal, as the doctor repeated several times. I noted to the doctor that she was obviously higher functioning than most AS children and that she obviously doesn't have any mental retardation or the seizure issues that so many have. I think I apparently came off disillusioned because he spoke first and foremost about what we are dealing with and stressed that we needed to prepare for the following: she probably won't ever talk, she won't be able to read, she won't be able to write, she won't be able to be unsupervised, and that she probably won't be able to live on her own. I have read all these things anyway on the computer concerning AS but when a specialist in the field tells you face to face to seriously prepare for this, it is quite shocking and out of this world. I kept telling myself, "you're not talking about my child".

Kendal was diagnosed in February 2008 and I can't believe I am still fighting denial in some areas with Kendal. Of course, I am extremely pleased and proud of her progress in the two years that she has been in therapy, but I guess I always thought in the back of my mind that maybe she would be healed. The doctor emphasized the importance of hope but didn't want us to be unprepared with the probabilities that we could be facing.

I am deeply saddened in a lot of ways.

I hate AS because of what it has taken from my daughter, but thankful for AS for making her who she is. Does this even make any sense?

The doctor had spoke more than once about this being a marathon not a sprint. I think he could tell that we are just tired. He emphasized the importance of me and James spending time together away from Kendal and I agree that we need to invest in us to better be there for Kendal. I have a major problem though asking for help. Both my mom and dad raised me to be independent and take care of my own business, so I have never been one to ask for much help (my dad might disagree with that statement!), but I will have to learn to let people in, because I am not sure how much more I can take at times.

The doctor wasn't all doom and gloom though. He really liked some of the things Kendal was doing - she was very sociable and maintained eye contact and was good with social cues. He strongly suggested we begin to work with a behaviorist. We will have to see if we can even fit that in our schedule in the future - at this point there is no time for it. Despite all the things that we again didn't want to hear, nothing has changed. Kendal is still the same Kendal despite the realization that she might never be miraculous healed - that might not be God's plan for her.

I guess when it all comes down to it I am not worried about Kendal. She has two parents that absolutely adore her and will make sure that she is always well taken care of. I think just letting go of some of our dreams for her, or maybe just changing some dreams we had for her. I continue to pray for peace and letting go of these stupid old dreams for her that I carry around in my head. My new dream for her should just be that she live a joyous and wondrous life. Now that's a good dream for our children.

A Busy Week

This past week has been busier than normal with Christmas approaching. We have alot lined up in the next two weeks but I will try to stay diligent in posting new entries of what we're doing.

Speech Therapy went great both Monday and Wednesday because Kendal is making new and different sounds. This is truly a blessing and makes us so much more appreciative of any progress she makes. Physical Therapy also went great and Kendal really seemed to enjoy it more this week than she has in the last two weeks. We didn't have Occupation Therapy this week due to the snow/ice we received Thursday night/Friday morning. Both me and Kendal were glad for the break because we both got to sleep in. I got to sleep till 6:00 instead of 4:45. It was wonderful.

We have yet to get Kendal anything for Christmas. I'm hoping to get out today and do a little shopping. She is a little hard to buy for because she does not like a lot of "age appropriate" toys yet. It has been suggested that it is a good time to begin to introduce toys that encourage imaginative play like dolls, play kitchen, etc. I know that her grandmother is buying her a doll this year and I am anxious to see how Kendal reacts to it. I see little girls all the time carrying around their baby dolls and that has never been something that Kendal has been interested in. Hopefully now, she will engage in more imaginative play. Me and James have talked about possibly getting her a trampoline or something to bounce on. She is learning to jump and she really has fun bouncing. Beyond that, we have no idea what to get her. Typical girl I guess - hard to buy for!

New Progress!

This week has been a slow week as far as entertaining activity. We have continued our daily routines as this week completely flew by. In the last 2-3 weeks, Kendal has made tremendous steps in her vocal abilities. She has finally discovered her tongue can move in all different directions (see video)! Of course this is a huge deal because we all know that until you move your tongue, you're not going to get many sounds. For the last several months we have been working with her to try to stick out her tongue (we actually encourage her to do this, I know it sounds strange). Not only that, she has begun blowing air while moving her mouth to start making the "ththth" and "dadada" sounds. Yes, this progress is truly amazing!

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

Our Masterpieces (or so we think)

A Great Fall Day

Our first day of vacation started with an early showing of the house at 10:00. We decided to head out to the pumpkin patch to let Kendal pick out the pumpkins. I think she was a little overwhelmed by the selection, but we managed to get two big pumpkins and a small one just for her.

When we got home, we decided to jump right in to carving out the pumpkins. Kendal was frightened of sticking her hand in the pumpkin to help clean it out. She literally was about to jump out of my lap to get away from the situation. It often takes her a while to get used to foreign things. She acted the way about playdough for 6 months before she would actually hold it and not freak out. Anyway, me and James got one large one cleaned out and then the tiny one for Kendal. James had gotten one of the pumpkin carving kits where you can do cool designs. We chose a witch standing in front of her kettle pot. It turned out so good especially when it is lit up! I did the small pumpkin for Kendal (no template required).

We had such a good time!

Vacation is Finally Here!!!

There were times when I wasn't sure if I would actually make it to vacation week. The last couple of weeks have been especially trying and I am so happy to have a week off from work.

We hope to go to a pumpkin patch over the weekend and plan on spending the first half of the week here at home. On Thursday, we plan on traveling to Indiana to visit my sister Katie, her husband Mike, and their two beautiful daughters Marilyn and Olivia. I am so looking forward to Kendal spending time with her cousins - she adores them and they adore her.

Signs and Sounds

Our little girl is learning new things everyday. I encourage anyone to look at some of the first videos I posted of her and you will see a marked difference in her vocalizations in a short amount of time. She continues to amaze us...

Getting Back to Normal

Besides the few remaining blisters that are healing, we are slowly getting back to our "normal" life. We haven't had speech therapy in 2 weeks - the first week was Suzanne's vacation and the second week was when Kendal was sick. Kendal really put on a show for Suzanne this morning using several of her signs without prompting. I am so proud of Kendal!!! In the next day or two I will post a video of some of her signs so please check back. I know everyone seems to enjoy the videos.

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After therapy this morning we headed to Vanderbilt for an appointment with Dr. Moulton (gastroenterlogist). He is an awesome doctor mainly because he is such a great communicator. When he comes in the room, he is focused on us and not anything happening across the hall. With all the doctors we have gone to, I think he is one of my favorites because he is so attentive. He is leaving Kendal's dosage on the Prevacid up to us. Of course, we want to eventually get her off the medication for reflux, but he advised us to play with lowering it at our own discretion.

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After that, we headed down to the lab for bloodwork. Kendal did really good considering they took 3 vials which seemed like it took forever. There was a mother holding her baby who couldn't have been any older than 3 months. The baby was screaming throughout the ordeal. When finished the father came and took the baby and the mother totally broke down. I felt so bad. I know what it's like to sit and listen to your baby scream in pain or fear, and not be able to do anything about it.

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Kendal went back to her daycare today and didn't seem to have any problems getting back into the routine. She loves her teachers and runs up to them to be picked up. She totally knows how to work it. She has them eating out of her hands.

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On a side note - when I was going to the doctors office this morning there was a small boy by the elevators in the parking garage leaning on his mother. As we waited for the elevator, the child continuously vomited in a bucket his mother held. It was obvious that he was a cancer patient from his bald head, very weak body, and paleness. It is always so easy for us to take things for granted. I get frustrated because parents take for granted that their children can talk to them. I needed a wake-up call that I too take for granted that my child is a healthy and happy girl. I thanked God right there for all his blessings on us. We all are so fortunate in so many ways.

A Slow Recovery

I thought Kendal was slowly on the mend but now I am having some doubts. This afternoon when I got home I took her temperature and it was back up to 101.5 - much lower than before but I thought she was done with the fever. She has had 6 doses of her antibiotic since Monday and if i don't see a marked improvement in the next 24 hours I will take her back to the doctor before I let her go into the weekend with no relief.

She is completely miserable, still unable to eat anything besides pudding/ice cream and she is not taking in much fluids. Everything appears to burn when it is put up to her mouth. I just feel so awful. I wish it would hurry up and run its course.

She has only been in the bed for 90 minutes so far and she has already woken up twice. She cried out, yelped, and moaned and then fell back asleep. This will probably be another hard night for her.

Please say a prayer for her....

Sick Again

(Hand, Foot, and Mouth Virus)

Yes, Kendal has gotten the crud again. Her fever began yesterday with the highest temperature hitting 103.8 last night. Nana watched Kendal today because Bob (boss) is off this week and I'm by myself at work. I met Kendal and Nana at the doctors office to see what was going on. Low and behold, it was....

anyone?

anyone? (was thinking of Ferris Bueller)

STREP THROAT. AGAIN!!!!
She also appears to have a coxsackie-virus in and around her mouth. She has several little blisters on her lips and blisters on the tip of her tongue. Kendal, as always, is in pretty good spirits despite the fact that the doctor said the blisters were painful. I did get her to eat Cream of Mushroom soup tonight, along with 1/2 a crescent roll, and some ice cream. Her temperature before bedtime tonight was 100.0 - hopefully with the antibiotics, she will be feeling better soon.

She is staying with Nana again tomorrow to be completely spoiled. I owe a debt of gratitude to Doris for always helping out in these situations. Thank you so much -

Another Pity Party - Will they ever end?

Kendal Chowing Down Tonight!












She's getting so big...who do you think she looks like? Me or James???

I struggled a little today in my very own little pity party. Most days are so great but every now and then I let my mind wonder and that is never good! I was listening to a child today a little older than Kendal. The child was talking up a storm and it really got me thinking. I know that Kendal is very smart but because I never hear her say anything I guess I sometimes forget that she must have all kinds of thoughts running through her head. Now, everyone that knows me knows that I like to talk (Doris, Shirley, and Teresa have the unfortunate blessing of knowing this first hand). I always feel better to get something off my chest, and I started thinking about my baby. She must have all these thoughts and feelings and can't tell anyone. Just thinking of that really hurt me. I can't imagine having so much going on in my head and not releasing it in some way. I can't get this image out of my head of a mime yelling out but no one hearing him. Is that going to be Kendal? Will she want to talk or because she has never done it, will she even know that she isn't talking like everyone else?
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I get really upset with myself that I have these pity parties occasionally. I hope I'm still just in the "grieving process". Kendal was just diagnosed the first week in March and it has been alot to swallow at times. I still have hopes for the unknown future, but I question what she will be capable of - will she be able to graduate from high school? from college? will she get married? will she live independently? I know my questions aren't different from any other parents, I guess I'm just wondering how this Angelman Syndrome will affect the rest of her life. I hope I get to the point where I do not have the pity parties or feel sorry for her. I know that she is God's child and he has much more in store for her than I can imagine.
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On a lighter note, I had Kendal in my lap tonight as she was drinking her milk and I was lightly caressing her stomach. When I would stop, she would grab my hand and start moving it. When I would start rubbing her belly again, she would then release me. I don't know why I worry so much - this child is very much in control of this household!!

The Good Life

Me and James dropped Kendal off Saturday afternoon at Nana's to go see Fireproof (see preview on right sidebar). We both enjoyed it and it was a really good look at marriage and what it should be built on. We got to drive Nana'a car and James, of course, loved it. We had a really good couple of hours away but it felt totally weird for us to be together without Kendal. She is truly so much fun - as nice as it is to get away, it sure is nice to come home and see my baby.

Dad should be coming home tonight from a mission trip to New Orleans. He has been gone since Thursday. Dad, we love you and we're proud of all you do!!

Finally Some Answers...

I finally heard back from a couple of doctors on Thursday and Friday. The neurologist called Thursday evening while I was on my way home from work. He stated that he had gotten the EEG results back and everything was perfectly fine. He said there was some slowing of the brain waves at certain times but that was completely typical in Angelman Syndrome and nothing to worry about. Also, Thursday when I got home I received my notice from the radiologists stating that my diagnostic mammogram came back normal. I was a little nervous to say the least that they had requested additional shots, but everything checked out fine. Friday morning I received a call from the genetic counselor starting that the University of Chicago can do a lab test on Kendal to determine if she has an Imprinting Defect. The rate ($450) was much, much cheaper than what we had been previously told and so I will take Kendal by the lab at Vanderbilt when we go back for a checkup to the gastroenterologist in 2 weeks. Things are finally coming together.

I looked into Kendal's medical benefits under our insurance to try determine how things will work when she is kicked off TEIS in March. After seeing the benefits, I then called the insurance company because I thought I had misunderstood what I had read. After the age of three, the insurance company will only pay 2 therapy sessions per month. Kendal is currently receiving 16 sessions a month. I, of course, freaked out as I tend to do. I had already spoken to two therapists about out-of-pocket expenses to hire them so I was somewhat able to calculate the amount per month needed to continue at least speech and occupational therapy - at least $700/month. I then proceeded to call the social worker that we had seen when we met the geneticist for the first time. I explained that I would need to hire therapists in addition to whatever the school system will provide. She asked me some questions and said she would get back with me. She called back Friday evening and said she had exhausted everything and could find no assistance due to our income. I told her earlier that we were trying to move and she advised me that when we move we probably needed to down size and change our lifestyle to provide the Kendal with the therapies she needed. That was hard to hear from a perfect stranger.

She had also told me earlier to look into social security benefits and possibly medicaid to serve as secondary insurance to help pick up the expense. I called both offices and was told that we make to much money to get any assistance. Medicaid said Kendal could possible qualify for one plan but the benefits were very small and would probably not provide any additional benefits that aren't being covered by our primary insurance.

Needless to say, we will be exploring any and every option in the next few months to ensure that Kendal continues to thrive under therapy.


On the homefront - we had a showing yesterday and the couple booked a second showing to see it again today. We will see what happens.

Physical Therapy Update

Kendal just recently had her 6-month evaluation for physical therapy. Everything went really well as expected and she is continuing to progress in her gross motor skills. She has a 33% delay, which is the same percentage delay she had 6-months ago. This does not mean that she is not improving. She is improving at the same rate she is aging, so we are really pleased with all her progress.

Kendal thoroughly enjoys physical therapy because Amber always makes it totally fun and incorporates whatever Kendal wants to do with whatever movements Amber is trying to get out of her. The above clip is a little more ridged simply because she is trying to see the extent of Kendal's skills for evaluation purposes.

I spoke with Amber concerning the delay and explained that our focus was Kendal's functionality in everyday life. Some of the skills that she is being evaluated for are not so important to me (standing on one foot for 3 seconds, kicking a ball 7 feet, throwing underhand, etc.) because I feel like these skills will come as time permits. I am more concerned about the skills she needs for everyday living (walking up stairs). Amber totally understood and supports us in our goals for Kendal.

To me, her progress seems so amazing. This is a totally different child (mobility-wise) from even 8 months ago. I was concerned that TEIS would kick us off the program because she has done so well, but to qualify, Kendal had to have at least a 25% delay and now that she is diagnosed I think she is automatically covered.

For those that aren't familiar, TEIS (Tennessee Early Intervention System) helps coordinate early intervention services with delayed or special needs children. This has been really nice because they contract with independent therapists that can come to our house. TEIS has been very helpful because they cover our co-pays for our insurance coverage that we would normally have for each session. We calculated it would be approx. $320-$400/month just in co-pays. TEIS is only available from birth to 3 years of age. After 3, the child can receive their therapies in the school systems. Usually 4 days a week, 3 hours a day, the child will be with other children that need services and will receive therapy most often in a group session. Kendal has 5 months before she is taken off TEIS, and we are not sure what we will do after that point.

Tomorrow evening Donnetta will be coming over for a visit. We haven't seen her in 3 weeks, but we are pleased with that extra day that we now have since we have changed her visits to once per month. We were growing quite attached to her and enjoyed seeing her and talking about what was going on with Kendal - but that extra day a week off now really gives us a break.

Guess who didn't get any calls from any doctors today.......ME!!! I will have to email Kendal's neurologist again tomorrow.

Finally Did It

I finally got something accomplished this week - the poster. Of course, I had to start from scratch because I did not like the look of the other one I was working on. I will have to make at least one more to take to her school (of different signs), as I am finding more and more signs that would apply to her everyday activities.

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The school/teachers have been so good to work with Kendal using her signs. Her teachers have asked me several times to clarify a sign they were trying to use with her. It is so nice to have a supportive environment that treats Kendal just as they should - they treat her like every other child they have.

Do I have to do everything??

Apparently yes, I do have to do everything. I get so aggravated following up with doctors and people that should be doing their jobs. These people are supposed to make things easier, not harder on me.

WARNING: This is a rant, Beware!

I have been trying to get help with a Behaviorist with Kendal that can possibly work with me and James and learn how to deal with behavioral issues. She is still swinging her arms alot and trying to hit people in the face. She does this quite a bit with the therapists when it is apparent she does not want to do what they are asking. With her communications delays, I think this could probably get much worse as she gets older and gets aggravated and frustrated about things. The speech therapists came in this morning with cut marks up and down her arms from working with a child yesterday. She was literally bleeding from her wounds and apparently this is not too unusual when working with all kinds of children with special needs. In my book, that is totally unacceptable and something that I will not tolerate from Kendal. I feel like if we take care of the situation now when it is a small problem then hopefully it will not escalate to the situation I just described.

Anyway, TEIS (Tennessee Early Intervention System) said they will only get a Behaviorist if she is diagnosed as Autistic. I explained that I needed help and that AS and Autism have a lot of the same behavioral characteristics. The neurologist explained this when we saw him because he has an autistic son and deals with some of the same issues we have. So I then called the neurologist to see if he would write a letter on our behalf explaining that he highly recommends a behaviorist and that the behavioral characteristics are very similar to Angel man Syndrome. Of course, they told me they would get right to it and of course that was almost 2 weeks ago and I have to follow up with them to make sure they are going to get it done. Also, the doctor was supposed to call me with Kendal's EEG results (see 8-13-08 post) and of course I have heard nothing. I don't like to be a bother but my goodness, if I don't handle things they will not get done. I know this doesn't seem like a big deal but in EVERY situation dealing with Kendal's stuff, I have to check, recheck, and call and recall to get things handled. Why can't they just do it??

I still don't know if TEIS will help me with this even with the letter but our service coordinator said we needed to give it a try regardless.

Also, I'm wondering if the geneticist is ever going to call me. I spoke with Terry Jo a few weeks ago (see 9-4-2008 post) and she stated she was going to be sending some information to the geneticist about further testing on Kendal. Of course I haven't heard from anyone. I don't know if Terry Jo sent the info and if she did I don't know why no one has called me. I guess I will have to send an email tomorrow to Terry Jo and see if she sent the stuff over and if she says she did I will then make contact with the genetic counselor.

I will try to make some phone calls and light some fires under someone. Wish me luck!

A Crazy Week

I have been meaning to do a new post for the last several days and like everything else, it just doesn't seem like I have enough hours in the day. I was actually home most of the day last Saturday besides having to go out for a shopping trip which was really nice. Sunday I ended up going to the Gladeville Baptist Church (where I'm a member) and went to a women's luncheon afterward to listen to a guest speaker. I had a great time and it was nice to actually be on my own for a few hours (James stayed home with Kendal).

Monday was a regular day that started out with Speech Therapy.

Tuesday was a little crazy because after I picked up Kendal from Preschool, we went over to Teresa's house (Kendal's babysitter from 3mo to 27mo). We stayed for dinner and Kendal got in a good visit with Teresa, Baleah, and Jared. She even saw Bruce for tickle time and Kassidy for a few minutes. Kendal did not want to leave (surprise, surprise) but we finally got out of there and headed home around 8:30. The Randolphs mean so much to me - they are practically family and I'm so happy to have them in my life.

Today was another session of Speech Therapy before heading off to work. The music man came to Preschool today, and we got some of it on video which I will post hopefully this weekend. Kendal LOVES her preschool. She runs up to the owner, Ms. Karin, and all her different teachers with arms outstretched. She doesn't cry at all when I drop her off anymore. It makes me feel so good that she has transitioned as well as she has. I have been working on a "sign-language" poster board to hang in the classroom but like everything else, I just have not been able to finish it. Again, maybe this weekend it will get done.

We had another showing this evening on the house and hopefully we will hear some good news. We have decided if we don't get anymore bites in the next 30 days of so that we will take it off the market until February. We ran out to get dinner tonight and after that I went to The Children's Place (where I had a gift certificate) and picked up a few things for Kendal. She has gotten so big. She is wearing 4T in most of her clothes. As the weather starts cooling off, I will be hitting the consignment shops and loading up for this winter.

Tomorrow is another crazy day. I will have Speech Therapy, Halloween Pictures for Kendal, and another mammogram by 10:00 in the morning. After that, I will run to work and then after work stop by Dad and Doris' house to visit for the evening.

No plans for Friday besides Occupational Therapy. Hopefully this weekend I will be at home so I can get some projects done.

Gotta to go to bed!

Her 1st Carousel Ride

Surprisingly to me, Kendal really enjoyed her 1st ride on the carousel at the Wilson County Fair this year. I can't believe she is getting so big! Sometimes I have to do a double take - my baby's now a little girl...

Who Needs a TV?

We find ourselves totally entertained at times by the goofy stuff Kendal does. She got this little snail from Bob (boss) & Lisa this past year and it is the one toy that she hasn't grown out of. She scoots around everywhere on her little snail.

Kendal's Injury

Kendal had an injury today at school. She fell while outside on the playground. She is doing well but as the evening wore on, I saw her touching it more often like it was bothering her. I held her tonight before bed and just gently rubbed her face over and over. She is so beautiful - I just kept praising God.

Speech Therapy Progress

I got such a great response last time I posted a video of Kendal's therapy, I decided I should do it again so everyone could see Kendal's progress. Although it is slow, she continues to make steps toward communicating with the world. She learned a new sign today - WANT. I mean it was just introduced for the first time last week and I think she has totally nailed it.

I was talking to Doris and Shirley today about my aggravation that she is not more verbal. We have been in Speech Therapy for a year now and I was hoping by now we would have had a "da-da". Today Kendal was very quiet as you will see in the video. Sometimes she squeals and makes sounds throughout the session. What can I say, it was Monday morning for us.

I just have to say a huge THANK YOU because both Doris and Shirley have been so supportive and understanding. When I have down days, they let me voice my frustrations and fears and I don't have to worry about being judged or being told I shouldn't feel that way. Sometimes I feel sorry for myself (I guess we all do that sometimes!) and I just think that this parenthood thing is not exactly what I had imagined. I didn't think I would have to learn sign-language to communicate with my child. I didn't think therapies and doctor's appointments would consume so many of my days. Don't get me wrong, parenthood has brought me so much joy and love that it is even hard to describe in words. I feel so utterly blessed to have this child, and yet sometimes frustrated beyond belief.

Tomorrow I'm going to sit down and make a poster of all the signs Kendal is doing. We are going to hang it up at preschool so the teachers can also familiarize themselves with her signs. I think she is up to 8-10 signs. It's pretty amazing that she seems to remember them - she has to remind me of them sometimes!!

Hope everyone has a great week.

P.S. This video was much longer than I anticipated. I have just reviewed it and it has put me in a light slumber. Beware!

The Zoo - The Mammogram - Oh Me - Oh My!

The last several days have been as busy as ever. This past Saturday I headed off to the Nashville Zoo with Kendal to meet Teresa (Kendal's caregiver for the last 2 years). Kendal was so excited to see Teresa, I thought she was literally going to undo the seat buckle herself and jump into Teresa's arms. I make jokes both with Teresa and Doris (Nana) that they must put something in her milk to get this kind of reaction. I haven't quite figured out their secret.

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Baleah and Jared also stopped by at the zoo to see Kendal which was pretty cool. We had such a good time - I truly miss seeing these people on a daily basis.

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Sunday James took Kendal out for a couple of hours so I could have some time to myself. It was very nice but I found myself really looking forward to them coming back home. What can I say - I am just so happy being with my family. We always just have a good time either hanging out on the back deck or playing in the floor with Kendal.

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Monday and today we had Speech Therapy and I again expressed my concerns with Kendal's progress. I have to remember that we are on God's schedule - not mine. This is such a hard lesson to learn.

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This weekend we are planning on going to the Cumberland Science Museum. We haven't been in years, and we are looking forward to letting Kendal experience some of their exhibits. Pictures will follow.

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On a side note....

Today I had my first mammogram. Now I am a big weeny when it comes to pain, but I am telling you there was no pain or discomfort having this done. I, like most people, have heard horror stories. I was quite nervous by the time I got there for the appointment, but it went great and I am proud that I took the initiative to get it done despite the fact that my insurance company wouldn't pay for it because of my young age. If you need to have a mammogram, I strongly urge you not to put it off.

National ASF Walk-A-Thon Results!!

Thanks so much again for all the support we got for the 2008 Angelman Syndrome Foundation Walk-A-Thon. We collected from family and friends over $3,500 this year! Thank you so much for your generosity and making a contribution on Kendal's behalf.

Here are the national results..... (from the ASF Website)

The 2008 ASF National Walk-A-Thon has been a tremendously successful, record-breaking event thanks to the thousands of volunteers and participants in 19 cities!

We are pleased to report that the 2008 ASF National Walk-A-Thon surpassed the $1,000,000 mark this year to support Angelman-specific research, education and general support!

Current preliminary, unaudited figures show 4,554 participants raised a record-breaking national total of $1,116,582! Many thanks to everyone who volunteered, participated and so very generously supported the 2008 ASF National Walk-A-Thon. This event depends on your dedication and participation and we thank you for your committment!

If you wish to make a contribution to the 2008 ASF National Walk-A-Thon and help us reach our 2008 goal and have not yet done so, click www.firstgiving.com/angelmanwalk to make your generous donation. Thank you!

Back in the Saddle Again...

Now with the holiday behind us, we are desperately trying to get back in the saddle with therapies, appointments, etc. Tuesday we had a doctors appointment with a sleep specialist. It went great to my surprise. The doctor spent 1.5hrs with me to thoroughly discuss the sleep concerns we have had with Kendal. Before the doctor came in, the nurse had asked me what Angelman Syndrome was - are you kidding me??? I tried to explain briefly but I had major concerns because children with AS do have sleep problems associated with the syndrome and I didn't want to have to educate the doctor on what little I know. Thank goodness the doctor was well aware of Angelman Syndrome and discussed the different aspects of how AS can effect sleep. She was very well versed and took a lot of time with us and seemed like she really wanted to help. She suggested that we tweak a few of our routines associated to her sleep time and also suggested that we keep a log until we see her again in 8 weeks. She stated that many children with AS are on sleep medications but we would try to correct any environmental or behavioral issues before we resort to drugging her. We have bumped up her nightly intake of Melatonin to 6mls and it has been working beautifully. She has slept the last several nights with no waking up. What a dream come true!!!

I spoke with Terry Jo (research advisor) and she told me they want to get Kendal in for a physical and neurological exam for the research study she is in. We also discussed whether we should proceed with further genetic testing on Kendal. Terry Jo feels like Kendal probably has an imprinting defect of her gene that has caused the diagnosis and suggests testing to clarify the recurrence risk. She has already warned me that sometimes they have to fight with the insurance company to pay for the testing. She stated that the testing was expensive (i'm guessing in the thousands) and that oftentimes she has to write letters to the insurance companies explaining that the test was crucial in determining if subsequent children will have the same diagnosis. In the next few weeks, I will try to investigate whether our insurance company would pay for this - I just don't think the test is that important to me right now. I guess I'm just up in the air at this point.

I explained to Terry that I haven't spoke with many of the other AS families because Kendal seems to be doing so much better than most of the other cases. I feel bad in a way that we have been so blessed. Kendal doesn't have near the obstacles that so many other children have to deal with. She totally understood and stated that once we found the mechanism, she would match me with a family that has the same type. It would be so nice to talk with another family that has a child like Kendal. Angelman Syndrome is still pretty rare and hard to find many people that have been exposed to it.

Awaiting on an email back from the Neurologist. Will update you hopefully soon on the EEG results...

Labor Day Weekend

So Thoughtful!

I got home today to find a package awaiting in Kendal's name. In excitement we opened the package to find these two beautiful bags. The hippo bag is a lunch bag that is insulated. The other bag is a great lightweight backpack that Kendal can use for years. I received these from one of our great customers at work. Every time I talk to them, they ask about Kendal.

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Do you see why I enjoy my work so much?? I work with so many good hearted people that I thoroughly enjoy. God has blessed me beyond belief!

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I wanted to let everyone know that they can order any embroidery, quilting, or monogramming from these amazingly sweet people. I think they have a large selection of different designs, fonts, etc.

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***RKE Designs*** 615-654-9919 home, 615-498-8846 cell (Eric & Rita Campbell).

Do you see anything wrong with this?

This morning the Occupational Therapist worked with Kendal using scissors. Aren't we supposed to keep scissors away from toddlers? Apparently using scissors is a 22-month skill. Are 2 years olds really using scissors to cut stuff? I told Sue (OT) that I wasn't so sure about this new "skill". And getting her to tear pieces of paper - what is all that about? Sue says that it makes her isolate her finger movements and also helps work her wrists. I never really thought about all the different movements that we make actually work so many muscles. It's truly amazing how God created us.

All her therapies are going so well - TEIS (Tennessee Early Invention System) has really been an amazing resource for us. I know that because we acted so quickly, Kendal has made huge strides over a relatively short amount of time.

Wringing Kendal's Neck

I'm sure most of you moms out there have been tempted at some point to wring your child's neck. That has been my feelings for the last several days. Kendal has been having some behavioral issues that we are having a hard time dealing with. If you have any advice, please leave a comment. I am open to any suggestions.

Kendal has recently started slapping me in the face. Now anyone that knows me, knows that is not a behavior that I would put up with. I consider myself fairly strict with Kendal and have become more and more aggravated because I cannot control her as easily as I used too. Granted, probably some of this is just being a 2 year old and testing the waters, but I have questioned whether this behavior has been seen with other Angelman Syndrome kids. I know that a characteristic is swinging/flapping arms and didn't know if this had anything to do with Kendal's behavior.

She slapped me continuously and each time I would tell her no, slightly restrain her, explained that it hurt mommy, and showed her to love mommy by rubbing my cheek. As soon as I would let go she would again slap me. It was as if she had NO control over her arms - that they couldn't stop swigging. After talking with several people (thanks!! Doris, Shirley, and Donnetta) I have gotten some really great advice and will try the technique of immediately putting her down or getting away from her and not looking her in the face. Terry Jo (Visiting Scholar @ Vandi - AS expert) as advised me NOT to look at Kendal in the face when dealing with these issues. I guess it is because Kendal is so social, it will have a much greater impact to NOT look at her so she will know that I am not pleased and that the behavior is unacceptable.

James has not been submitted to this until tonight and he just his first dose of it. I will tell you that it is truly the most frustrating thing. I wonder how much of this behavior is out of frustration or anger on her part. Most kids her age will tell you whats wrong - Kendal, at this point, does not know how to express these emotions and I'm terrified that these behavioral issues will just get worse down the road.

Terry Jo called me this morning and discussed an additional option on testing for the Imprinting Defect as a mechanism that caused Kendal's AS. She informed me that there are only 5 labs in the world that do this specific test and she felt like it was something I needed to pursue. The physician that is heading up the research study is going to look over Kendal's reports and give us his 2 cents on what we should do. Terry Jo explained that because Kendal's methylation test showed abnormalities indicating AS, that we should be able to find those abnormalities through lab reports. The geneticist had basically told me that there is nothing else they can do and they cannot give me an exact mechanism that caused Kendal's AS. I am, however, more apt to listening to Terry Jo because Angelman Syndrome is her life and all she studies about. The geneticists, while very helpful, are not as familiar with AS because they are dealing with so many other genetic disorders and don't see AS very often.

Terry Jo should be getting back with me soon regarding her advice. Also waiting to hear back from Dr. Barnes (neurologist) on her EEG results. We also have an appointment Tuesday (9-2) afternoon to see a sleep specialist. Knowing Kendal, if we had a sleep study, she would do amazingly well and the doctors would look at me like I'm crazy. It certainly won't be the first time that has happened!!

Kendal Eating

We have been working with Kendal on her eating. It has been a little difficult in the past due to her delays in fine motor skills. But as she hones these skills, she is getting better and better on self-feeding.

An answer from the Geneticist

We finally heard back from the geneticist concerning the last round of testing on Kendal. This is what we have learned....

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There are several genetic mechanisms that cause Angelman Syndrome:

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1. Deletion (not sure if this is the deletion of chromosome 15 or a deletion of genes on that chromosome)

2. Uniparental Disomy

3. Imprinting Defect

4. Gene Mutation

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We have so far tested for deletion, uniparental disomy, and gene mutation. All these tests have come back normal. The next logical thing to do would be to test for the imprinting defect, however the geneticist explained there are no tests to run currently to determine if this was her cause. She further explained that 10%-15% of Angelman kids have no identifiable molecular abnormalities. Would it be a surprise to anyone if Kendal was in that group?

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The first thing I asked her was if they were sure she even had AS. She was very adamant that Kendal has Angelman's primarily because her methylation test came back abnormal indicating AS. She said that the test alone is so comprehensive that it is used for diagnosis purposes. She also referred back to the many clinical characteristics that Kendal has that are in line with what you see in Angelman Syndrome. She assured me that Kendal was diagnosed correctly even though we cannot get the exact mechanism that caused this.

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The main reason for finding out all this information (as it does not change anything) is to learn about recurrence risks in subsequent children. Because they are unable to put their finger on the exact mechanism, they have advised a 1%-50% recurrence risk.

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It's funny because me and James have not really thought much about the recurrence risk. I think with both of us, it really doesn't matter much. Kendal is such a great daughter that fully enjoys life and interacting with people. She loves so much and she is loved so much. We couldn't ask for anything more.