Test Results Came Today & Green Veggies are Back on the Menu!!!

So after all our waiting the test results are finally back! Three weeks of waiting! I think it had to do with Thanksgiving because it took a week longer this time. Let me clarify since there seems to be a little confusion when I said he was being tested for IRD since I have already said he was diagnosed in my first post... Well he was unofficially diagnosed with it by two other doctors who felt like they didn't want to make it "official" until we saw this geneticist in Phoenix and the testing that we had done were the same blood tests plus one that we had done in September. The geneticist knew he had a PBD but didn't want to commit to IRD until he had a confirmation test. Anyway the geneticist office called today saying they wanted me and my husband to come in together to see him. Well as of 12:01 this morning Landen is no longer insured so I told the secretary that we have already had the "bad news" its just a confirmation test so please see if he would make a phone call instead. So less then 20 minutes later there was the call... and although we already knew its still hard to hear the confirmation test confirmed that he had a PBD on the mild/moderate end. (there is a picture of the zellweger spectrum of diseases) In other words he has IRD but not the mildest form... there is still the chance that it could be NALD because it is more moderate but he thinks it fits closest to IRD so that is what we will stick with. Our next step once we get Landen insured again is to do DNA testing to find out just which genes have the mutation that will give us even more information. Don't let the terms mild or moderate fool you it doesn't matter which one it is the prognosis is fatal... we are just talking about how long it will take the disease to progress to that point.

The good news! Our pediatrician told us to avoid red meat, fish, dairy and green veggies but he wasn't sure about the green veggies just avoid them to be careful. Well geneticist and nutritionist agree that green veggies are safe because the substance we are trying to avoid are bound in a way that humans can process them straight from plants. Some animals can such as cows for example eat plants and break them down and the VLCFA (very long chain fatty acids) move into their fat so their meat and products give them to us. You and I processes them in our cells but Landen's cell are "broken" and he can't. So tomorrow we can feast on broccoli, green beans and spinach if we want!! Good news cuz if you haven't notice most veggies are in fact GREEN!

The last few weeks have been pretty calm for us not long trips mostly just waiting around for results at home. It was a little rougher for me having all this time to sit and catch up with everything. I had my low moments but I always know who I can call to make me feel better. It seems like I was too busy to think about it much. We had a nice Thanksgiving made Landen his own special pumpkin pie with almond milk instead of canned milk... he didn't eat it... He went through a week long period where it was a fight to get him to eat anything. We decorated our tree and are looking forward to our visit to Utah for Christmas and Johns wedding. Landen is working on walking trying really hard and landing on his diaper a lot. Brayden is almost crawling he rolls and army crawls now and has also started self feeding. I wasn't expecting it at 6 months since Landen just picked up that skill last month. Its strange having Brayden after Landen I'm constantly surprised at how fast he is growing and developing compared to Landen. I can't believe his development catches me by surprise heaven knows I've had plenty of baby experience but I always compare him to Landen first. Although this doesn't seem fare to Landen... Landen should only be compared to Landen he can't even be compared to others with this disease since it is so different with everyone. I'm a proud Momma to see Brayden grow and develop so well... and I'm a proud Momma when Landen learns a new skill no matter how small!

Busy Week Genetics/Flagstaff

Busy week, Monday was a trip to Phoenix to see the geneticists and so I will start there. We didn't end up meeting with the geneticist that I wanted Landen to see our insurance switched it last minute. There was a physical exam and family/medical history plus a ton of questions. So pretty much our life. After a review of the labs that Landen had done last month he explained to me that Landen had a Peroxisomal Disorder... so nothing new. A lot of explination into what it was.. blah blah.... heard it all before. But he was unwilling to diagnose him with IRD... yet... even though I have had two other doctors who are 100% sure that is what it is. But since it is the geneticist who gives the final "official" diagnosis we will do it his way. So Tuesday I took Landen down to the lab and had blood drown and sent to Baltimore to get tested I expect the results to be back in about two weeks telling me what I already know Landen has IRD.

So now to the better part. Wednesday we left early to drive to Flagstaff to meet with a family that has a daughter like Landen. She is only one month older then Landen! Its a miracle to be able to even meet a family with a child with IRD let alone one that is almost the same age. Her name is Ezra and she is a beautiful little girl... so much like Landen. They like the same toys, they play the same games, they are the same size and they even have the same favorite book with the same worn out pages. It was interesting to watch her play her habits, attitudes, expressions and sounds remind me of Landen! They even look alike they have the same facial features that are common with this disease. It was even better to get to know the family someone who is walking in our shoes, someone to compare notes and talk about our concerns and our journey so far. They can understand our situation and frustrations like no one else can. I'm sure that our families will be a great help to one another. Thank you Jeremy and Joleen :D We stayed the night in Flagstaff and ended our visit with hiking in the Grand canyon!

End of October Update

People keep asking me when I'm going to update the blog? Well... there isn't much to update but I will try to update around the first of the month unless something major happens that way you don't have to keep checking in everyday wondering.

The 8th of October was our only real appointment this month. We travailed to Flagstaff (about three and a half hours away) for a mandatory ENT exam for Landen to be in CRS (Childrens Rehabilitative Services). I was not looking forward to the drive with both babies just to be there for twenty minutes and then drive home. When I got there I found he has also been scheduled to see physical, occupational, and speech therapists as well as a nutritionist and a family councilor. So it was a long day but we were able to learn lots. The occupational and physical therapist gave me some exercises to do with Landen on a BIG balance ball to help build some strength in his muscles since he has such poor muscle tone (a symptom of this disease). When we say "muscle tone" its not what people usually think of. They think of a well toned body builder who has nice muscle definition but, it mostly refers to the natural strength of his muscles. Landen has as a symptom of his disease what is often called "floppy baby syndrome" meaning his muscles lack the natural strength that most babies have. For example... Brayden who is only 6 months old can push up off the floor and get up on his hands and knees pretty much normal where as Landen at that age when put on his tummy could lift his head for only short periods of time and would cry because he couldn't get up off the floor. Landen also tires easily when he playing. The nutritionist had no idea what to say when I told her about Landen's diet issues but promised to do some research and call me... I'm still waiting.

This month Landen managed to break both sets of hearing aids and we had to have them fixed. Left ear both times I don't know what he did to them they just suddenly stopped working but they are fixed now.

We have also been introduced to a wonderful family in Flagstaff who has a little girl Landen's age who also has IRD. It has been helpful to know that there is someone else out there. With the rarity of this disease we are lucky to know anyone that close especially someone who is almost the exact same age. Its interesting to discover as I talk to her mother how similar she and Landen are we are hoping to get to know one another more soon.

So October is over and it was a slow month for us its been 3 weeks since Landen's last doctors appointment. Everyone has been holding their breath and waiting to see if he got to see genetics or not. Friday we finally were able to set an appointment we will be heading to Phoenix on the 8th of November. (Which happens to be my little brother Tim's birthday... you got a shout-out don't expect a gift) He got lucky and the doctor he is seeing is also the geneticist for the other little girl that we know. Its nice that he will see a doctor who has actually seen this disease before. So you can expect a post in a week or so letting you all know how that went.

Things have been slow as far as doctors but our family is starting to get back to normal... or as close to normal as we can get. Our emotions although still strained over this devastating news are starting to move into acceptance. I don't suppose the hurt will ever go but we are moving more towards what can we do here and now for our precious baby. Landen is truly a blessing just happy as can be every moment lighting up the world!

We have recently moved to a bigger apartment! We have our own washer and dryer now (with two kids this is a real BLESSING!). We just celebrated Halloween it was tons of fun I made Landen and Brayden's costumes the went as Mario and Luigi! SO CUTE!!! The boys had a blast at the church party and trunk or treat (although I gave all their candy away, we are on diets and they aren't going to eat it) Scott is now looking towards Christmas and is begging to put up the tree tomorrow November 1st, which is better then last year since I was out of town with my family he put it up on Halloween day. I'm thinking about giving in since we will not be together for Christmas this year. I will be in Utah for John's wedding :) Scott will only be able to fly in the day before the wedding he has to work Christmas Eve and Christmas Day.

Taken October 2010 at Garland Park while visiting Grandma

How am I feeling?

As I have talked with family and close family friends about Landen everyone asks how are we doing? I cannot answer for Scott but I will be honest about me. I wish I could tell you that I've learned to accept this and that I know everything will be okay but that is just not the truth. The truth is that this is the most horrible thing that I have every gone through. It has taken a great toll on my physically and mentally with the constant stress and lack of sleep. My heart aches everyday. Its been weeks since I found out and I'm just starting to be able to talk about it. I didn't even have the courage to tell my husband for the first week. I cry everyday, sometimes less sometimes more. Some days I feel like I'm gaining perspective and others I'm not sure if I can go on. I feel my self running through different emotions. I don't expect that the pain of knowing that my sweet babies life will be cut short. I'm not sure if its better to be the mother who loses her child suddenly or the mother who must live always knowing how fragile his life is knowing what is coming. I am grateful for the time that I have been given.

This has shaken me from top to bottom everything I am and everything I believe has been put to the test. I remember from the moment I knew I was pregnant thinking about my little child wondering what he would be, who he would marry and what he would chose to do in life. Now I wonder how long do I have him, how will I ever be able to let go, will his brother always remember him and what can I do to make sure that we never forget my precious boy. I am not a strong person the Lord knows that he has always surrounded me with people who love me and show me how to live strong and my faith in him has never wavered. But now at the moment of truth I find that I am just a weak person. Its been hard and I have struggled in my faith but I have come out on top knowing more then ever what I believe. I believe because I must! I have to know that there is a plan for my baby and that he will always be mine. I don't ask others to believe as I do but I am telling you all now that this bond between me and my son is eternal.

I am surviving and things are getting a litter brighter. There is two little lights in my darkness my boys Little Landen and Baby Brayden. They keep me here and give me strength to hold on when I feel like I'm losing control. The are here and they need me now not later when I feel like I can handle it. They bring joy in my trouble. I also have the great support of my wonderful husband. Each day makes me grateful for someone who intimately understands my pain and listens to my fears. I have a wonderful family full of support even though they are far away. So I take things day by day. I will work through my pain at my own pace with the help of those who love me.

How we got here

Many of you are already aware of this information but I would like to take a minute to tell you about my little boy. Landen arrived into this world August 8, 2008. At that time Landen failed newborn hearing screening at the hospital. It took only weeks to have him diagnosed with bi-lateral hearing loss and by December he was wearing his first pair of bright blue hearing aids. We noticed at an early age that Landen was delayed in his gross motor skills not rolling over or pushing up or trying to crawl but he was young and the doctors were not concerned.

At six months he woke up one day and his eyes were wiggling back and forth it didn't take long for us to become concerned since they never stopped moving. Ophthalmology at Primary Children's was our next stop and at about 8 months in July of 2009 Landen was diagnosed with nystagmus (involuntary side to side movements of the eye) and Retinitis Pigmentosa or RP (black spots on his retina).

The Ophthalmologist immediately refers us genetics fearing that Landen had Ushers Syndrome. Ushers is the most common genetic condition in which both neural-sensory hearing loss and RP occur together. Genetics ran their tests to rule out other things and in the process ruled out Ushers. The geneticist had some suggestions of his own, this was the fist time we would hear of Peroxisome Biogenesis Disorders or PBD. We had already moved to Arizona and couldn't afford the testing on our own so we put it off. I did my own research on this and convinced myself that there was no way that this was my Little Landen. At this time we were getting concerned over his lack of growth between 10 and 13 months, but his pediatrician was not concerned because at 13 months Landen finally learned to crawl and was burning more calories.

Time passed as we struggled to find some way to insure Landen and his "mild" delays started to become more extreme it was like my little boy was just stuck at that stage of development. Even more concerning was at his 18 month checkup Landen was still barely 20 lbs and 29 inches the same as he was at 10 months. His new pediatrician agreed that we should be concerned. He and his staff began working with us to find some way to get Landen insured and back into testing. In April of 2010 we were upset when Scott's pay was significantly cut just as we celebrated the arrival of our newest joy Baby Brayden. This qualified Landen for state insurance. We jumped on the ball right away!

We wanted Landen to see genetics right away but the way the insurance was set up he couldn't see him unless he saw a neurologist first so I drove Landen to Phoenix in August as soon as the appointment could be made. The neurologist gave me the shock of my life when he was the first doctor to tell me he had ever seen a patient like Landen. He said it was incredibly rare and in his many many years as a neurologist he had only seen 3 cases and the last one was 35 years ago. It was Infantile Refsum Disease I was overjoyed. But my joy was turned upside down when I got home and started researching it. The symptoms described my Little Landen perfectly and in a way that I was never able to get others to understand. My heart broke the first time I read the prognosis I turned off the computer and refused to even look at it again for several days. When I got my courage up to look again I found the same thing I didn't need a test to know that this was what my baby had. The month and a half since then have been a blur of doctor appointments and tests, the most important were the original test that Geneticist at Primary Children's wanted to do which only confirmed that Landen had IRD a Peroxisome Biogenesis Disorder and though it may be the least sever of on the scale it is still fatal and will eventually claim the life of my precious little boy. The greatest gift I have ever been given.