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!