Nothings Changed. Everythings Changed.

The last 72 hours have been a whirl wind for Justin and I.

Tuesday morning I got a phone call from Kennedy’s Geneticist in Dallas. The lab in Colorado had found that Kennedy did not have Albinism types 1 or 2 and they were willing to continue testing for types 3 and 4. I was ecstatic, tears of joy were flowing!!!

By early afternoon I was crying tears of fear. After speaking with the Univ. of Colorado’s DNA lab reality was put into a new perspective. The doctor at the Univ. informed me that Albinism type 3 has only been diagnosed in African Americans and that Albinism type 4 had only been diagnosed in about 30 people in the USA!!! I sat on the phone wondering why she felt the need to fill me in on statistics- just do the test!!! Then she asked, “Are you sure Mrs. Gibson that you do not have Puerto Rican decent.” I quickly responded with, “Why!?” She continued to explain that there was a disorder called Hermansky Pudlack Syndrome (http://www.albinism.org/publications/HPS.html) that could be confused with Albinism types 1-4. Persons with HPS look like a “typical Albino” however; they can have fatal medical problems. Some of the issues involved are: bleeding problems, lung disease (which is fatal), bruising and bowel disease. With tears running down my face we hung up. I jumped on the internet (not always a good idea) and began to research this Monster called HPS!!! As I searched I contacted everyone and anyone who had a connection to this disorder. I contacted a lady who at the time I had no idea would be my rock and strength- she was in NY and I here in Frisco, Texas. That night at 10pm my cell phone rang. It was Donna in NY. Donna is the president for the HPS Network. Through my sobbing she talked me through what this disorder was. Like a little child I asked, “What do I do?” Her first response was, “You be strong for that precious little girl you have and you be thankful for all that will come.” After all the mushy stuff was over she proceeded to give me step by step instructions on what I needed to do even down to what color top tube to have the blood drawn into. Basically I was to get blood drawn. FedEx it to Dr. White in Minnesota and await results. If the tests came back positive we would then have to send blood to Maryland where it could be analyzed for types 1 and 4, the two types of HPS that come with the fatal lung disease. This was a lot of information to take in!!!! That night I am pretty sure that combined Justin and I probably slept a total of maybe 2 or 3 hours.

Wednesday morning rolled around and I was on the phone trying to locate a lab to draw Kennedy’s blood. No luck!!! No one wanted to draw the blood and give it to us to mail for legality reasons. They all wanted to test it themselves. I tried to explain that a simple blood test would not be able to find this disorder; it took a high powered electron microscope. I finally got a hold of Richard, a lab tech. Richard explained how he could not draw blood and then mail it to another lab or give it to me. He wanted to test it. I plead with him, “Dr. White is the only person who can do this test. He is the only one with the microscope. People in the UK even send their blood to him. This is my child, please help me!!!” He agreed to do it if we were there by 12:30pm. I called Justin and told him to hurry and get Kennedy and head to meet Richard. When Justin arrived Richard explained that he spoke to his supervisor and would no longer be able to draw her blood but was willing to try and help Justin. My poor husband waited as Richard called the many labs that I had already called and received the many “No” answers I had already received. As Justin walked out of the hospital… Kennedy and yellow top blood tubes in hand Richard told him to wait. A kind hearted lady in the lab had agreed to do it as long as Justin signed a consent form. Justin signed and they drew.

The next step- FedEx. Justin had to find a FedEx that sold the particular mailing pouch for hazardous material that we would need. About an hour and $46 dollars later it was on its way! Another night of no rest in the Gibson household.

This morning I was sick in the bathroom anticipating the results. This test could change everything. This test could be fatal. This test was out of my control. As I was ill Kennedy sat outside the bathroom door chewing on my bracelet and belly laughing at me. How innocent she was- she had no idea what was going on. She had no idea that in many ways her fate lay in the hands of this test. I knew that the blood should be in Dr. White’s hands by 10:30am this morning. At 10:00 I spoke with Marcy, Dr. White’s nurse, who informed me that they still did not have the blood. I had checked the tracking on it about 50 times and it said that it was on the truck in route at 8:22am. Where was it???? I called FedEx and the lady said, “We will notify the driver, I hope it gets there by 10:30.” I wanted to reach through the phone and strangle her…. She hoped it would get there? This was my daughter’s future. I called the lab back at 10:15am- still no blood. I called the lab back at 10:30am- still no blood!!! I called FedEx for the 4th time- not quite so calm this go around. A little irate I asked the lady, ‘Where is the blood?!” She starts pecking at the keyboard in front of her and replies with, “A B. Smith signed for it.” This time I was not letting her go to call the lab. With Marcy on one ear and FedEx lady on the other we were going to solve this!!! I asked FedEx lady, “B. Smith where???” A little put out she answers, “At shipping and receiving.” Marcy on the other phone is about as upset as I am wondering who this is and where is the blood- we are running out of time before the blood sample is no longer good for this test!!! Marcy tells me that she will investigate and get right back with me. At 11:05 my phone rings, “I found it at Riverside Hospital across the river from here. They are affiliated with us but not us. By noon we will call you back with the results.” We hung up and every emotion ran through me again. At 11:45 the phone rang and it was Marcy. My heart was about to jump through my chest- was my daughter consumed by this terrible HPS monster. “Mrs. Gibson your daughter, Kennedy, has tons of normal dense body platelets. She does not have HPS.” The Monster was dead!!!

With all the excitement I called the lab in Colorado to see if they had any news on the tests that they were running for Albinism types 3 and 4. Long behold they were getting ready to write her report. Our precious little Ken-Ken has Type OCA4 Albinism.

It is finally all over. We have an answer and it is not a fatal one.

NOTHINGS CHANGED. EVERYTHINGS CHANGED!

To You...

I just wanted to drop a quick note to say thanks. Thank you to the people who stay in constant contact and continually check on our dear family. Thanks for reading and responding to the blog- we love to know that you care!!! Thanks for making those quick phone calls to say, "Hey, I care and I am here." Thanks for sitting next to my desk while I lose it emotionally after getting devasting calls from labs. Thanks for the prayers.

You are the people who keep us going. You help remind us that we are strong.

Thanks for being you!!!!

Burning Holes in my Pocket

So... Starting in September Brooklyn will be a busy little bee. Our money will be going to the following two organizations:

Can you imagine this?? My poor child that has no coordination and terrible balance. I don't know about you but I can't wait for her dance recital and half time basketball performances!!!!

Little Things- Life's Lessons

Lesson #1- The obvious is NOT always so obvious
So... today I got to daycare and Kennedy's teacher said, "Did you know that Kennedy has a tooth?" Yea- the day we have all been waiting for. One of those little boogers right at the bottom finally broke through. All the orajel, gum massage and crying is over!!! As I look in her mouth the teacher says, "It is right up there on the top." What... On the top? How could that be??? I have been doctoring the bottom- the place where for months we could see the tips of some teeth just waiting to break through. I say, "I have been putting orajel on the bottom, NOT the top!" Could this be why Wed. night she continued to scream as I paced the floor with her??? Sometimes the obvious is not quite so obvious.

Lesson #2- What is a Bad Day to you might not be quite so Bad to someone else
I have realized today that I am on the edge of a mental breakdown.... okay I am lying.... for a few weeks I knew I was falling OVER the edge. Yes- I am taking the proper steps to rectify this situation. I have placed a call to the pharmacy!!! :)
Anyways... after just losing all self control I was trying to regain sanity in my room. Sitting in my computer chair pondering life's many philosophies and reflecting on the wise words of my Gynecologist in walks Miss Brooklyn. "Mommy, I had a bad day." I immediately turn around thinking, "Oh my... did she just hear me LOSE it?!" Like any mother would do I asked her why. Her response was as it normally is, "Because I did." I start running through my head all the things that could be making my quite complex 3 yr old feel this way. Could it be that a friend at school called her 4 eyes.... maybe she went to time out (nevermind- that wouldn't be abnormal)... does she feel like Justin and I don't have time for her anymore.... what could it be?! "Brooklyn, what happened at school that made you have a bad day- talk to Mommy." She looks at me puzzled as if I were speaking another language. She stands up and says, "Mommy... it is a song." And she begins to sing...Brooklyn style:

'Cause you had a bad day
You're making me feel
You sing a sad song just turn it around
You say you don't know You tell me bye-bye

"Thats Bad Day Mommy and I have one- in my Daddy's car." I look at her almost in tears and think to myself.... If thats what a Bad Day is I want one too!

Lesson#3- Mental Sanity Days are GOOD
At convocation this yr we had a speaker talk about how it is imperative for you to take care of yourself so you can take care of others. Basically- when you need a mental health day take it. This morning Justin asked me to do something and I snapped. All I could think was, "You want me to do one more thing... like I don't already have a list of 100 things going.... hello busy, plate is full....on the verge of a breakdown.... are you kidding me...."

To everyone I know............ This Sunday is Summer's Mental Health Day!!!! I will spend it playing with the girls, eating, sleeping, eating, sleeping and hopefully sleeping some more!!!!


I will leave you with this:
Embrace the little things because one day that will be the memories you have!!!!

~Somewhat Maniac Mommy Gibson

"ALBONINISM"

So... today was the day. I called Plano Presby to make sure that things were ready and everyone knew what they were doing. I assumed that after a week of preparing documents, physician phone calls to lab managers and insurance verifications we would be ready to go- WRONG!!! After speaking to 5 different labs (including the Cardiac Catheter lab) I finally got a hold of Ms. Gabby. Ms. Gabby is the same lady who did the daily jaundice tests on Kennedy for about 2 weeks post her delivery. Very sweet lady who affectionatly calls everyone "Baby" (we like her a lot!) Ms. Gabby informed me that our doctor neglected to write a diagnosis on the paperwork therefor we were not exactly ready to go. You would think that by now we would have this part already figured out! A little skeptical that things would run smoothly after my morning phone call fiasco I left my school and headed to daycare to pick up Kennedy. We ventured to Plano Presbyterian Hospital where the long awaited Genetic testing would take place.

This is where we met Sonora, our outpatient paperwork lady. Very sweet lady who just thought Kennedy was the sweetest thing she had ever seen. Sonora is where the title for the post originated... "Alboninism." For the love of God she could not correctly pronounce Kennedy's diagnosis. I counted a total of 12 times that I heard her say "Alboninism." I corrected her 4 times with no luck. While on the phone with our insurance company (yes, they had to call and triple check that too) I hear Sonora say, "Alboninism." I can infer that the insurance lady must have said, "Excuse me, what was that diagnosis again?" For a second time while on the phone Sonora repeats, "Alboninism." I am lead to believe that the insurance person must have realized what Sonora was incorrectly pronouncing and repeated it correctly because I then hear her say, "Yes, that is it." I told myself to just let her say it however she wants... afterall it is not everyday that someone walks into the hospital with this diagnosis.

Now in the lab itself Ms. Gabby and I were discussing this draw of blood about to take place. I explained that importance to me that she sticks once and is successful. I asked her how she was planning on drawing the blood as I could not see a vein anywhere. Calmly she pulls Kennedy's arm straight, puts her index finger down and says, "Here Baby, feel right here." I touched Ken-Ken's arm and there it was. My confidence in Ms. Gabby sky rocketed. She proceeded to tell me (as she prepares Kennedy's arm) that they would be shipping the blood out this afternoon and it would be in Colorado by tomorrow. "Okay Baby, I need you to lay across her chest securing her and pull that little pumpkin head towards you... Ms Gabby will take care of the rest." Kennedy and I stared at the wall both unknowing to when the stick would take place. Within seconds Kennedy let out a shrill and Ms. Gabby said, "Got it." No more than a minute later we had all the blood we needed. I picked Kennedy up, she stopped crying and we were on our way- after hugs from Ms. Gabby of course!!!

In 4-6 weeks we should have the results.

While leaving the hospital a nurse pushing a patient noticed Kennedy. She says to her patient, "Look at that little baby. I have never seen anything like it. Look at that white hair." I used to get so offended by people's comments. Sometimes I would cry and other times I would fly of the handle. Today however, I smiled and kept walking.

"We could never learn to be brave and patient, if there were only joy in the world." -
-- Helen Adams Keller

The Truth Hurts

Today I ventured into Dallas and took Kennedy to her first appointment with the Geneticist. For whatever reason this appoitnment opened all those wounds that I thought were healed.

Yes... I have come to accept that Kennedy has Albinism. Yes... I understand that this will have a huge affect on her daily functioning. Yes... I know that there is no cure. No... It doesn't make it an easier going through the process to identify where the mutation occured. As many doctors that we have been to you would think that this would just be another rock to climb but for whatever reason today was really hard for me. I found it difficult to hear the doctor say "mutation" over and over again. I found it heart wrenching to hear her discuss with me Kennedy's future as far as being a mother. I almost cried when we talked about the lack of pigment she found when examining Ken-Ken. I keep holding onto the slight chance that a doctor will say that she does indeed have a moderate amount of pigment. I am coming to face the reality that she probably has the most complex form of Albinism resulting in severe vision impairments.

Needless to say the Geneticist has found a loop hole to get us around paying the $2000 I was going to have to pay to get the tests done that will locate the exact gene that mutated. If the pediatrician orders the labwork we will have to be admitted to Plano Presby to get it done. These samples will then be sent to Colorado for testing. The lab in Colorado will then bill the hospital who will then bill us. This means we will only pay 20% of the bill. If we do not get admitted to a hospital to have this done we will pay $2000- yikes!!! It will all be outpatient and lengthy but much more cost efficient. I should get this done within the next few days! I am leary of the results because I will then have to face the truth!!!

Brooklyn has gotten her new bifocals and has been doing great. Today we got them readjusted so they are no longer slipping off her little nose. I will post a pic soon because I recently got her hair cut into a little bob and it is darling!!!!!

For those of you who do not know I have been faced with much pain since having Kennedy. After many tests including sonograms and biopsies the doctor thinks we have found the cause. My uterus and cervix have come back showing pre-cancerous cells. We caught the cells in a stage or two before they progressed into cancer. I go back in November to have more biopsies done and then we will go from there with our plan of treatment. My doctor is very positive and seems to have faith that we can prevent these cells from progressing any farther. Some days I feel fine and other days I am ready to throw in the towel and have it all cut out. My heating pad has become my new BFF!!!! Other than pain medication, muscle relaxers, heating pads and faith there is not much more we can do at this time!!!!

Daddy has started football. I know he wishes he could be at home helping me more and spending time with our girls but such is life. He is gearing up for what we hope is a winning Raccoon football season! I know his head is spinning just as fast as mine right now as he tries to take everything in! We love you Daddy!!!!

I will no longer update Kennedy's Caring bridge website- I will actually delete it soon. This is a much better way to keep you updated on all of us!!!

Much Love,

Mommy Gibson