Cold Case goes Solved

Wednesday, December 9, 2009

There was a point in time that I thought we would never have answers. I had come to grips with and accepted the fact that Kennedy's diagnosis would continue to puzzle all and would remain a mystery for all time. However, I am very excited to announce to the world that Kennedy is no longer a mystery. Her once cold case has now been solved by our amazing Neurologist. It was confirmed in our last visit on Thursday, December 3, 2009 that Kennedy has a Mitochondrial Disease. In fact she has Leigh's Syndrome or Leigh's Disease with Encephalomyopathy (a condition affecting the brain and nervous system [encephalo] and muscles [myopathy]). The prognosis for Leigh's Syndrome is poor , however, it is nice to finally be able to put a name to this awful disease that has been plaguing Kennedy from day one. I will provide a detailed post later in this week about Leigh's Syndrome and Kennedy's appointment with her Neurologist. But for now here is what I think........

Hello Leigh's Syndrome welcome to our family. We would like you to leave us, however, have accepted the fact that you are here with us for the long haul. We do not fear you nor are we intimidated by you. We have educated ourselves about you and know far more then you would like us too. We have learned to live our lives in harmony with you. You will not tear down our spirits. We will continue to live on and thrive in spite of you. You actually have allowed us to live our lives in such a way that we consciously seek out joy and laughter and we strive to live each day to it fullest potential. We do not feel sorry for ourselves or for our daughter Kennedy. This is going to be a tough fight but we feel like we have already won the battle!!!

CDKL5

Monday, November 30, 2009
Kennedy is now part of a Canadian Research Project that is looking into abnormalities of the following two genes: MECP2 and CDKL5. About four months ago during a routine genetics appointment our Geneticist shared information with us about an extremely rare syndrome that she thinks resembles Kennedy - CDKL5. As of right now roughly 200 people worldwide have been diagnosed with this disease. It is so rare that it does not even have a name, it is just referenced by the genes alpha numeric symbol. In order for Kennedy to be tested for CDKL5 the lab would have to first test her for MECP2 and if the test was negative then they would test her for CDKL5. So, two tests were needed to determine one diagnosis (of, course). CDKL5 is an atypical variant or mutation of MECP2 - well that is my understanding (I think I need 10 more years of schooling in order to get a complete understanding of all this genetics mumbo jumbo). So it is a sequential testing.....1st test for MECP2 if negative, then test for CDKL5.

Brian and I went home and thought about it for a long time. I did plenty of research about CDKL5 and whether or not I thought this could be Kennedy's diagnosis. CDKL5 mainly affects girls and not much is known about it. Below is a non comprehensive list of symptoms that correlate with Kennedy's current condition as I see it relating to CDKL5:

• Refractory seizures (seizures not easily treated wtih meds)
• Microcephaly (small head - Kennedy's is in the 3rd percentile)
• Minimal or no use of hands (I think Kennedy's hands don't work due to peripheral nervous issue)
  
• Small feet (Kennedy only wears a 2 and they are big)
  
• Low muscle tone
• Cortical vision impairment
• Mental Retardation
• Severe neurological impairment

The first thing we needed to do before committing to these tests was to get confirmation from our insurance company that they would cover all or part of costs incurred from the genetics testing. It took a little more then a week for them to get back to me - we were told no. As some of you may know, genetics testing is not normally covered with most insurance policies and sense Kennedy has received more then her fair share of tests that they have so kindly covered, they have pretty much decided to cease the coverage of future testing. Bummed about the news, I called the lab at the Mayo Clinic for a quote and was told that both tests would result in a grand total of $4,300!!!

Not that we place a price tag on our daughter, however, we just did not find it beneficial to fork out that kind of money on a Geneticist's hunch, especially since I did not think Kennedy had this genetic abnormality! I mean can you blame me.....There is not a high probability that this is what Kennedy has. If you have not all ready noticed Kennedy is a difficult complicated child....If you recall, the doctors were sure she had one of three Leukodystrophies (Metachromatic Leukodystrophy, Krabbe Disease, and Adrenoleukodystrophy), but when those came back negative, they were even more certain about her having Congenital Disorder of Glycosylation Type 1A. What about the pure confidence portrayed by my Neurologist that she has a Mitochondrial Disease (not sure which one, but she has one of them I trust my Neurologist)! Not to mention the countless other syndrome/diseases/disorders she has been tested for - all resulting in a negative test result. Once we put all this together we decided that it would not be wise nor financially beneficial to Kennedy or our family.

I called our Geneticist to inform her of our decision, to which she was saddened upon hearing the news. Laughing, I told her if she could let us use her insurance or if the lab would do it for free we would be there in a minute. It just did not make sense to spend almost 5K for the "possiblilty" of a diagnosis, because as you all now - if this test resulted in a negative finding we would be told that there is a new disease/disorder that Kenendy has and more testing would be needed. I just was not going to spend that kind of money for a shot in the dark.

Now back to the Canadian Research Project. Apparently the Canadian government has provided significant funds to several doctors and/or researchers to perform analysis and testing regarding MECP2 and CDKL5. So about a month ago we received a phone call from the Geneticist herself. She was very enthusiastic and upbeat on the phone, she said, "you told me that if the test was free you would do it"! Well the rest is history. We had the tests done on Tuesday, November 24th and they were sent to Canada via FedEx the same day.

The clock starts now.....4 months and counting!!!

I am Thankful for you!!!

Thursday, November 26, 2009
Dear Kennedy,

It is our second Thanksgiving together and I am so incredibly thankful to be able to spend the entire day with you! I thank god every minute to have you in my life. When I reflect back on the things I am thankful for it is hard to be thankful for anything but you! Even though you are unable to move or talk to me we share such a strong connection and bond. You will only sleep if daddy and I are in our room with you and. If you could have it your way you would sleep between daddy and I in our bed every night. Nightly we fall asleep holding each others hands. You sense when you are alone and you hate it. I love watching you peacefully sleep when I wake up before you, which rarely happens because you hate to sleep.

I wanted you to know that your birth and presence in my life has made me a better person. You have made me face so many situations and emotions that WERE so outside of my comfort zone. You made me into so many things that i never thought defined me. Before you were born I was a very black and white kinda person and hated gray area's. If a decision needed to be made I needed to have all the facts/details before I would commit to anything. I never played the lottery and never invested in any high risk stocks- NEVER! I took the conservative route when allocating monies for my 401K. I hated surprises and always had everything planned out! Sometimes I was even referred to by others as having OCD - everything had its place and if I had to be somewhere at 5 I would show up at 4:45. I never took risks and enjoyed my mildly calm, routine, systematic, and sometimes boring life. Then you came along and challenged my personality and character. I am everything I never thought I was and more because of you.

I am going back to school to become an RN like your guardian angels and mommies mentors/heros (Laura, Kecia, Ramona, and Michelle your primary nurses in the ICU) and help baby's/kids just like you! You are my inspiration and no matter what happens to you I will be forever grateful!

I love you,
Mommy

New Found Freedom

Wednesday, November 18, 2009
I first would like to extend a huge debt of gratitude (Thank You) to everybody that was involved in last weeks fundraiser for Kennedy. Whether it was a donation of food, time, money, supplies, equipment etc....it was greatly appreciated. Your support means so much to Brian and I. We feel so very lucky to be surrounded by so many amazing people!

We did not raise as much money as anticipated/expected, however, every little bit counts. With the money we raised I went down and purchased a transport vest so that Brian and I can now travel with Kennedy laying down in the backseat - yep, you heard me right. We can now drive Kennedy around while she lies comfortably in the backseat.

As I have talked a lot about in the last couple months, we have been unable to drive anywhere in the car by ourselves with Kennedy. If a trip with her was necessary, we both had to be in the car with her as we travelled. One of us was driving and the other person was in the backseat managing her secretions. Kennedy was miserable the entire time we were in the car. She would gag, throw up, choke, have difficulties breathing etc......It has been a rough couple months. I was feeling very seculded from the outside world and begining to feel down. I mean I couldn't do simple things like; run to the grocery store, go out with friends for lunch or dinner, enjoy an evening out as a family of three.

Well the problem appears to be two fold: (1) Kennedy has been having a lot of issues gagging and chocking on her secretions. They tend to overwhelm her and she becomes very uncoordinated and unable to handle them if she is in any position that requires her to swallow them. (2) Kennedy is unable to sit in a upright position. We have been given no explanation (par with the course), however, I feel that when she sits up it compress' her stomach and because she is extremely hypotonic she is unable to keep the flap from her stomach to her esophagus closed, thus resulting in her throwing up from the pressure.

It appears that we have reached a solution. On Monday I purchased this amazing piece of equipment that allows Kennedy to lay down in the backseat while she travels. I tried it out for the first time on Tuesday and it worked like a charm. No throwing up, no choking, no stressed out mommy, no paniced Kennedy........Freedom at last.

Fundraiser for Kennedy

Monday, November 9, 2009
My good friend Shannon is putting on another fundraiser for Kennedy. The fundraiser will be held on November 11th from 4:00 - 8:00 p.m. @ Central Park in Rancho Cucamonga. If you would like to participate or donate supplies please view and respond via the evite. Or donations can be made through Kennedy's blog.

http://www.evite.com/pages/invite/viewInvite.jsp?event=QOIAIVTEZLVHLLTYPKAE&inviteId=SPYBPBQLYLGVJFWAHIOF&showPreview=false&x=425356366

Thanks in advance!!!

~ Stephanie ~

Oh, There are Times.....

November 8, 2009
There are times that I wish I had a crystal ball. Times I wish I knew what God had planned for my precious Kennedy. Times I wish I could lay in bed all day and sob uncontrollably. Times I wish I could scoop Kennedy up and run away. Times I wish Kennedy was just like every other 15 month old.......But, there are no crystal balls and if I could see into the future and changes the hands of time I would be a millionaire.

The holiday's seem to drum up suppressed emotions. When I was pregnant with Kennedy I remember being so excited to celebrate things like; Halloween, Thanksgiving, Christmas, and Easter with her. I couldn't wait to see the expression on her face when she opened her first present, or found her first Easter egg. However, since Kennedy's birth the holiday's seem to be a time when Kennedy's disabilities are brought to the forefront. I try so hard to make everything as normal as possible, to provide my daughter with the appropriate experiences, but as time pushes forward this becomes ever so difficult.

I would do anything to change Kennedy's fate. To change her circumstances, but one thing I would never change and that is having Kennedy as my daughter.

Poem

Wednesday, October 14, 2009

I found this poem when Kennedy was in the NICU. When I read it I felt as if the author wrote it specifically for Brian and me.

HEAVEN'S VERY SPECIAL CHILD

A meeting was held quite far from Earth!
It's time again for another birth.
Said the Angels to the LORD above,
This Special Child will need much love.

His progress may be very slow,
Accomplishments he may not show.
And he'll require extra care
From the folks he meets down there.

He may not run or laugh or play,
His thoughts may seem quite far away,
In many ways he won't adapt,
And he'll be known as handicapped.

So let's be careful where he's sent,
We want his life to be content.
Please LORD, find the parents who
Will do a special job for you.

They will not realize right away
The leading role they're asked to play,
But with this child sent from above
Comes stronger faith and richer love.

And soon they'll know the privilege given
In caring for their gift from Heaven.
Their precious charge, so meek and mild,
Is HEAVEN'S VERY SPECIAL CHILD.

by Edna Massionilla
December 1981

The Roller Coaster Continues

Sunday, October 11, 2009
Kennedy is doing great - well great according to our standards for Kennedy. She is still talking and babbling a lot. She does not really smile or babble in response to something or someone, but non the less she is happy as pigs in mud. Life however has become more complicated in the last three or four weeks. Kennedy's throwing up is in full swing and it is driving me absolutely nutty!!! We have changed formulas to a prescription formula and it has not helped one bit. It has become so bad that we are no longer able to drive in the car with her unless someone is sitting int he back seat with her suction machine. It sounds crazy, but whenever she is sat up it seems to compress her belly and make her throw up (our basic diagnosis - it is better then any diagnosis we have ever received). This then creates more problems because I don't have the luxury of having someone with me at all times to chofer Kennedy and I around.

This is a huge problem for me!!!! Throwing up leads to aspiration. Aspiration leads to pneumonia. Pneumonia leads to hospitalization. Hospitalization could lead to death! I am sick and tired of Kennedy throwing up! Not to mention it takes a lot out of Kennedy and I don't think it is fair. I just can't believe no one can figure out why Kennedy constantly throws up every time she is moved, pushes to go to the bathroom, burps, or her belly becomes compressed. It is just plain unacceptable that I can't get an answer.

Brian and I have decided to go elsewhere for a second opinion at Children's Hospital - Los Angeles. Hopefully it does not take us to long to get in to see a new Gastrointerologist, Pulmonologist, and Neurologist. I am looking for second opinions from the GI and Neurologist, however, I just absolutely hate Kennedy Pulmonologist so I am looking for a new one!

Growing Anxious

Monday, October 5, 2009

Sooooo, it has become very apparent that flu season is in full swing. I have read and been told about many of babies/kids getting sick. I am growing more and more anxious day-by-day about keeping Kennedy as healthy as I can keep her. I feel like sickness is our enemy and we are constantly fighting a war with it. I think I might have a slight problem - maybe. Ever since I had Kennedy I worry constantly about others around me. If I go anywhere and people begin to cough, sneeze or I hear them sniffling there nose my anxiety level goes through the roof. I almost begin to panic, especially if Kennedy is with me. It is almost as if I can see the germs come out of there mouth and float in the air waiting for Kennedy and I to inhale them in - Okay not really that dramatic, but you get what I mean. I guess you can all equate it to having the new mommy syndrome. Where you bring home your new baby and are extremely paranoid about them coming into contact with anything dirty or anyone sick. You become the hand washing Nazi overnight for about the first six weeks. This is how I feel all the time - I partly blame being a NICU Mommy for so long!

I guess when you step back and look at the big picture it is extremely scary. Kennedy is already compromised or fragile due to her Chronic Lung Disease and immobility. It is just scary as hell to think something as simple as the flue could possibly kill her. We go to Kennedy's doctor this month to get her first round of Synagis (RSV Vaccine). She will receive one shot every month until April.

A Girls Worst Enemy....The Scale!

Saturday, September 19, 2009
Kennedy is just like every other girl out there - she dreads the scale!! So, we have been battling the dreaded scale. Kennedy is having a lot of weight issues - in particular gaining weight (to bad Mommy didn't have this problem)! So, I initially attributed her lack of weight gain to her 5 week long hospital stay back in May, however, as of today, she weights less then she did 3 1/2 months ago. Her current weight is 16lbs 1oz - that of an average 4 - 6 month old. It is times like these that I doubt my decision to stop looking for a diagnosis for Kennedy. But then again, I come to the same realization - that even with a diagnosis there is no guarantee that anyone would even know or could explain what is going on with Kennedy.

We have seen Dr. Yanni (GI) more then both parties would like to see one another. Kennedy is having a lot of problems keeping her formula down. We have had to drastically change Kennedy's feeding regime. Currently we are feeding Kennedy continuously for 17 hours. From 5pm to 10pm she eats 50ml/hr. Then we lower the rate for her 10pm to 10am feeding to 40ml/hr. All-in-all she gets 730ml/day which is a little more then 24 ounces in a 24 hour period. Just a quick flash back - in May Kennedy was able to tolerate all of her feeding via bolus. She could tolerate 120ml/hr. This is one of the hardest things for her doctors to wrap there heads around. In the blink of an eye she has gone from eating from a bottle to not, from sucking a pacifier to not, from moving her limbs to moving nothing, from tolerating her feedings to not tolerating them at all. It is completely baffling if you ask me. It really makes it hard to get a routine going when her norms seem to be continuously changing.

We have had to switch Kennedy over to prescription formula. We are currently using Elecare, however, it does not seem to be working! Kennedy is still throwing up several times as day. However, the most bizarre part of it all is if I feed her pedialyte only she is perfect. She is able to handle the liquid and won't even as much a spit up - go figure. There are days when I wish I could just feed her Pedialyte all the time. I will give Kennedy a couple more days on this formula before I call Dr. Yanni and see what he wants to do. We have discussed a GJ tube and Nissen, however, he does not think she is a good candidate for a Nissen procedure. So now we wait and see. We have become experts at the waiting game.

1 Year in the Making

Saturday, August 15, 2009

So Brian and I decided around late June that we wanted to through Kennedy a huge 1st Birthday Celebration. Not only for her, but for us too! I mean this was a huge moment for our family. We made it - I mean we beat the odds (well the odds all the doctors gave us)! I decided on a beach type theme seeing as it was summer and all and I hand made Kennedy's flip flop invitations. We had the party at my Aunt Donna's (Thank you) because my parents house was still under construction. All of Kennedy's best friends showed up - Ashlyn, Brandon, Samantha, Sophie, Fiona, Avery, Darby, Kaiti, Madison, and Antonio!!!

It was a great party!!!! We had a taco guy come in and cater everything so that Brian and I were not stuck behind a grill and we were able to enjoy every minute of Kennedy's celebration. She received some amazing presents. We even got some sensory type presents for her, which are amazing. All in all it was an amazing day! It goes to show how much support we have. We as a family are very blessed to have so many family and friends behind us in this journey.

Now to start planning birthday celebration #2 - LOL!

(Above: Kennedy's 1st Birthday invitations - which I had made)

(Above: Kennedy's candy bar)

Kennedy is 1

August 13, 2009

I can not believe it my baby girl is 1!!! Who would have thought - well I did, but I know a lot of people thought she would never make it to see her first birthday. Brian and I had planned a huge birthday celebration for both Kennedy and ourselves on Saturday, August 15th, however, we could not let her actual birthday pass without having some sort of celebration.

Brian and I cooked a feast and had our family and a couple friends over to celebrate. We ate, drank, threw shoes, and socialized in the backyard all night long. When we sang happy birthday to Kennedy I became really overwhelmed with emotion. I just kept thinking, "We did it". We beat the odds. We were told repeatedly that we would take our baby home and she would never see her 1st birthday, but she did! Auntie Ash made Kennedy and homemade birthday cake/pie/pudding thing and we sang to Kennedy as loud as we could - she loved all the noise and stimulation! Her eyebrows were raised as she looked around. It was a night I will never forget!!!

Happy Birthday Peanut!!!!!!

Happy Birthday

Thursday, August 13, 2009

Dear Kennedy,

One year ago today we welcomed you into this world. I never could have imagined how much our lives were about to change. Your daddy and I couldn't wait to meet you. I was wheeled into the operating room for a planned c-section. I was really nervous and uneasy the night before about your arrival, but I felt at peace and calm that morning. You were born at 9:39 a.m. weighing 5 lbs 14 oz and were 17 3/4 inches long. You didn't cry when you were born - the NICU team was called to the room and you were whisked away. I got to see you for a split second and kiss your forehead. At that point I would have never imagined in my wildest dreams what we as a family were about to endure. I didn't get to see you again until the next morning at 6:00 a.m.

I often hear the statement, "if only you could go back in time". Well if time travel was permitted I would not change one thing. I know I say this all the time but you make me a better person. I even see it in your daddy. He is more caring and understanding. His eyes light up at the "little" things in life that matter. At night you guys lay in bed and daddy holds your hand until you fall asleep. He would do anything for you. Most daddy's in our situation would have left by now. But not our daddy - he is in this for the long haul, for better or worse.

This road we are traveling down is a rough one, full of many bumps and unexpected holes, but you are riding through life amazingly well. I never would have thought I would get to see you smile or hear you babble or celebrate your 1st birthday. You are a miracle! I love you more then anything in this world.

We love you Kennedy!

Love,
Mommy and Daddy too

The Calm Before the Storm

Wednesday, August 12, 2009

It was a year ago today and I can remember it like it was yesterday (I actually don't think I will ever forget this day) it holds a great deal of meaning to me - this night has taught me many lessons!  Brian and I are anxiously awaiting the grand arrival of our little girl Kennedy.  My in-laws are down from Colorado to meet their new Grand baby, I had called all my family to tell them to be at the hospital no later then 9:00 a.m. in order to meet Kennedy, all of our bags are packed, the house is immaculate, the cradle is set up right next to my side of the bed, etc.....

Brian and I are laying in bed trying to get some sleep.  This will be our last night together as a family of 2!  Tomorrow at 6:30 a.m. we are scheduled to be at Queen of the Valley Hospital for a scheduled C-section.  

As I lie in bed I can't help but shake this uneasy felling.  I shared my feelings with Brian who just continued to tell me that it was nerves.   But I knew differently.....Let's recap - Kennedy was initial due on September 15th, however, at my 8 month appointment my doctor had moved up my due date up one whole month after a scheduled ultrasound.  Kennedy's head circumference was measuring that of a baby due 4 weeks earlier.  We were then told that my due date would be moved up a month earlier to August 15h).   Two weeks later I was scheduled for another appointment.  My Dr. performed another ultrasound and delivered the same due date of August 15th using Kennedy's head circumference.  In addition, I was told by my Dr. that Kennedy was measuring roughly 10 lbs.  After this appointment we scheduled my C-section for August 13th because Kennedy was still breached.  

The four weeks prior to Kennedy's birth were filled with a lot of uneasiness, doubt, and worry.  I used to tell Brian and my family all the time that something was wrong.  Kennedy was not ready to come out.  She was going to be small.  They used to think I was crazy!!!!  They would say, "look at you - you are huge" or "your doctor wouldn't tell you she was ready if she wasn't".  No matter what anyone said I couldn't shake this feeling that everything was not going to be alright.  But what was I supposed to do???  I mean a person who went to school for medicine, someone who has delivered hundreds or thousands of babies (of whom five I know personally) was telling me everything was fine.  I couldn't very well tell him he was a liar or that Kennedy was going to be small when he says she is going to be big.   

Call it mothers intuition - I just knew something was wrong.  The day before my C-section I laid in bed in the dark worrying about what tomorrow was going to bring me.  I was excited to finally meet Kennedy but I had a very unsettling feeling.  I woke Brian up a couple times and told him that I didn't want to go.  I asked if he could call and cancel.  He told me that everything was going to be OK and that I was just nervous.  He laughed and said, "we need to get some sleep, this is going to be the last peaceful night was have in a long time"....Oh boy, he sure did not know how spot he was!!!

Sea World

Thursday, August 6, 2009

A couple months ago my family from Utah and I planned a trip to Sea World sometime at the beginning of August because they all were going to be down in San Diego for a family vacation.  We decided on a date earlier in the week and I was anxiously looking forward to Kennedy's 1st visit to Sea World.  I went down to San Diego with Jen and her son Brandon, Breanna (the tag along) and Kennedy and I!  We met up everyone early in the morning and had a blast all day long.  

This was a very sensory filled day for Kennedy.  She saw Shamu, touched Sting Ray's and starfish, had her picture taken with Elmo and Big Bird, went through the shark reef and saw a show called Cirque De Le Mer.  She really seemed to enjoy herself.  She was very alert and even cracked a smile.  It was so nice to spend the day with my family and friends (wish we could do this more often).  

The tickets we bought let us go back one more time for free....so I can't wait to go back with Jen and Brandon and hopefully Brindle and Sophie to have another fun filled day in San Diego!

***** Mandy e-mail me the pics you have so I can post one of all of us together - I have no idea why I didn't take one :(

(Above: Kennedy and I getting ready to watch Shamu)

(Above: Kennedy and the starfish)

(Above: Kennedy loved touching the Sting Rays)

(Above: The besties)

(Above: Kennedy and Mommy waiting for Breanna at one of her many potty breaks - LOL)

(Above: Kennedy and I don't know what we would do with out her - she is always willing to lend a helping hand!!!!)

(Above: The Foursome on one of our many wild adventures)

(Above: Elmo....Brandon's favorite - we watched The Elmo Movie about four times on the way down to San Diego =) )

(Above: Mommy and Kennedy watching the Sharks)

The Hunt is Over....

Friday, July 31, 2009
So with the end of another month, so comes the end to our diagnosis hunt!!!! That is right, we have decided to search no more. Kennedy will be one year old in 13 days and for almost one full year I would say 40 to 50 well educated doctors from a well established reputable hospital (Loma Linda Children's Hospital) have tried to find out what is plaguing our precious peanut. When I think of the fact that Kennedy is still undiagnosed it drives me crazy - how is this possible? Well, I know that some diagnosis are hard to find but hell, they don't even have a clue! Ok, well we have a list of issues, i.e., seizure disorder, cerebellar hypoplasia, severe hypotonia, chronic lung disease, hypertension etc... but nothing that explains why all these things are happening.

This is something that we both have thought very long and hard about and I am very happy with our decision! To make things even better our doctors are all on our side (yes, all 7 of them). They completely agree and support our decision. They reassured me that they know how to care for Kennedy with or without a diagnosis!!! I don't feel that having a NAME will change anything about Kennedy. I don't think it will make her move or change her fate in any way. We love Kennedy for who she is and for whatever she has.

Our Neurologist is convinced that Kennedy has a Mitochondrial disease - which she has tested negative for. He explains that the lab work does not always yield accurate results and that this disease is very hard to test for. During our last visit back in early July I explained to our neurologist that Kennedy was beginning to coo and would smile occasionally when touched or talked to! He was amazed! I had to show him proof (via my cell phone) because Kennedy would not do anything while in his presence. He looked at me very bluntly and said, "That makes no sense", to which I replied, "Nothing she does makes sense". We both chuckled. On a serious note, he said that Kennedy's MRIs show that her Myelin (white matter) has severe atrophy and her brain has some evidence of degeneration. She should not be talking or smiling. According to her MRI she should only be digressing - getting worse, not better.

Another reason he thinks Kennedy has a Mitochondrial Disease is because every time she gets sick she goes from barely being sick to sitting at heavens front gates in a matter of days. He tells me that we should treat Kennedy as if she has a Mitochondrial Disease - it can't hurt. After seeing the concerned look on my face about treating Kennedy for a Disease that we don't even know she has, he interjects with a quick hypothetical......So, Kennedy's lab work came back negative for Mitochondrial Disease. Now I would advise that we proceed with further tests. I would order a muscle and/or brain biopsy. These test would tells us conclusively if in fact she does or does not have a Mitochondrial Disease. So, we find out she has this disease, do you know what the only treatment for Mitochondrial Disease is (insert long pause) Vitamins! So, lets skip all this testing and just give Kennedy these vitamins now. They can't hurt her even if she does not have a Mitochondrial Disease. Fair enough.....We started Kennedy on the Mito Cocktail about two weeks ago. I have noticed since we began this new regimen Kennedy seems more alert, her left hand is a little stronger (she was able to grasp a rattle while I moved her arm), and she is talking a little more. Great progress!

As mentioned earlier Kennedy will be 1 years old in 13 days. This is a huge victory for her. She defied the odds and proved all those doctors wrong that told us she would never see her first birthday. Kennedy is getting her 1st Birthday pictures tomorrow. You can see some of our photographers work here. I will post the pics ASAP!!!!!

Simply Perfect........

Wednesday, July 15, 2009

I feel like the luckiest person alive to be afforded the luxury of staying home with my daughter Kennedy.  There are some days when Kennedy and I just sit on the couch all day long.  We talk, play, cuddle, watch TV, and sleep together.  I do not treat Kennedy very different then most of you treat your children.  There are times I find myself running errands together and I catch people staring or I hear someone comment either directly or indirectly.  I don't label Kennedy as a child with special needs, she just requires some different accommodations.  I see a beautiful girl who is a spitting image of her daddy.  She has gorgeous red hair, fare skin, and mesmerizing blue eyes.  

Kennedy has a great life in spite of the cards she was dealt........She is in no pain, she looks around the room in utter amazement, she now recognizes our voices, she coo's, smiles.....I am still not sure why Kennedy was created this way, but what I do know is that she was handmade specifically for Brian and me.

Even though Kennedy can't move, sit up, walk, crawl etc......I feel blessed every day to have her in my life.  She has taught me so many lessons in such a short period of time.  She has made me a better person; more caring, understanding, patient, wiser, etc....  I'm thankful for every single second of every day that I have with her.  

We continue to stay very positive and upbeat, treating each and every day as a new adventure.

  

Nephrologist

Tuesday, July 14, 2009

Yesterday Kennedy had her 1st of several appointments scheduled for the month of July!  We went to see her Nephrologist Dr. Cutler (who by the way we love, well.....we or I, love all of Kennedy's doctors - lucky us).

We missed most of Kennedy's appointments while she was admitted to the PICU for pneumonia.  So it has been a nightmare rescheduling all 7 of her specialists!  Her blood pressure has always been a topic of concern for me.  I am always so unsure about giving Kennedy her medications because we do not monitor her pressures at home and there are really no visible signs to say that her pressures are too high.  Every day I just give Kennedy her Captopril and Norvasc as scheduled and hope for the best - Geeze!  So, needless to say I was anticipating a blood pressure reading and to my surprise it was NORMAL!!!  Yippie - 111/66.  That is the best reading we have ever received in all 5 visits to Dr. Cutlers office.  

He feels that Kennedy's Hypertension is a result of her immobility!  Since she is unable to move at all and has severe hypotonia (weak or low muscle tone) that the muscles constricting her blood vessels are probably weak, thus, resulting in higher pressures.  There are no other medical reasons as to why she is hypertensive.  All of her Kidney tests have come back normal and her heart is in excellent condition according to her two echos.  

Dr. Cutler's theory is, "if nothings broke don't fix it".  Thus, the reason he is leaving Kennedy on the Captorpil and Norvasc at the same doses.  Kennedy is actually weaning herself off these two medications.  She has doubled in weight since she was discharged from the NICU and her doses have never changed.  So as long as the doses don't increase, Kennedy continues to gain weight, and her pressures remain in the normal range, she should outgrow these  two medications in six months!!!!!!  

For our first of many visits in July - it was a great one!  I am really able to relate to Dr. Cutler.  He had a daughter kind of like Kennedy.  She was not supposed to live past one and made it to eighteen.  He commended me on how well I handle Kennedy and proceeded to tell me that I was very wise beyond my years.  In addition, he wished more of his patients had parents like me - wow what a complement!!!  One word of advice he gave me which I feel like I have really lived my life by since Kennedy's birth, "take each day as a gift, enjoy life, laugh often, and live each day to its fullest because you never know when your time will be up" His words meant more to me then I think he will ever know.  

Thank you Dr. Cutler - Thank you!!!

Concert in the Park

Monday, July 6, 2009

Sorry for three posts in one day but I had a lot of catching up to do!  Tonight the three of us headed over to Memorial Park in Claremont to enjoy a nice evening out watching a great Classic Rock Band in the park.  I packed us a picnic lunch of Chinese chicken salad and egg salad sandwiches (weird combo, but that's what Brian wanted.....)

We got there a little early and set up our spot.  It was great weather outside.  Kennedy loved the music.  She actually just loves the outdoors!  When the band started to play Kennedy was smiling and was very alert.  Aunt Donna, Uncle Vince, Nick, Janelle, and Ashlyn met up with us shortly before the show began.  It was a great evening.  We will be doing this again every Monday night through out the summer if anyone wants to join us!  

Kennedy's 1st 4th of July

Monday, July 6, 2009

So Kennedy and I decided to come home from our vacation early to be with Daddy!!!  He was lonely without us home - probably not, but it sounded good.  Brian built Kennedy this awesome wagon while we were gone.  It is all equipped with off road tires and a big bed for Kennedy to relax in.  

The three of us had a pretty mellow 4th of July weekend.  We mainly hung out with family and friends.  On Saturday we went over to Mimi's for a couple of hours and then headed to the Smiths' to BBQ and relax the rest of the evening.  Kennedy made a new friend.....Nicole (Derek's Sister).  Chatty Cathy was out in full force that evening.  She was following Nicole's voice around and every time Nicole asked her something she made a noise back in response.  Kennedy and Samantha looked absolutely adorable in their 4th of July outfits.  

On Sunday, the three of us went over to Mimi's and hung out in the pool.  All and all we had a great 1st 4th of July.