Teeth again

  I took Alexis and Aiden to the dentist the other day, so I had him look at Jacob's teeth to see what he thought about their size and condition. He said they look pretty strong, but  we can watch them to make sure they continue that way. He also agreed that they were a little small on the bottom and more of a trapezoid shape instead of rectangular, but wants to see what happens when his other bottom teeth come in. So, we will see what happens there...

Therapy Update!

      So, we went to therapy yesterday at Children's Mercy and I was much happier with how things went there! He was evaluated by a physical and occupational therapist to see where he falls developmentally so we will find out more of those results next week. The OT definitely wants to see him once a week and PT either once a week or every other week. They also want to get him started with the eating and nutritional therapist, so we are supposed to keep track of all of his food intake for the next 3 days so they can chart it and see where he is with caloric intake. The PT gave us some leg wraps to use to help him with standing and wants to get him fitted for leg braces soon. She also noticed that his ankles and feet roll in which may be preventing him from standing as well, so he will have to get that corrected with arch support. So, that is where we are with therapy! I also find out that apparently Infant Toddlers changed their Model to be more family focused and so they are not as hands on as other therapists and focus more on teaching the family how to work with their own kids. That explains a lot of things and I wish I had known that from the beginning. Regardless, I prefer Children's Mercy's approach to therapy and hopefully if Insurance lets us, we will continue to use them! I am hoping not to get a huge therapy bill in the mail in a few weeks, but I get the feeling that we will, so my next step is to call Insurance and see if they are covering all of the therapy sessions. If not, we will be back at square one again...

Noticed Something else...

  I wanted to put this in here before I forgot...I noticed the other day as I was trying to feed Jacob that when he stuck his tongue out it looked like it was deformed a little bit on one side, almost like it had an extra piece or a lump on the right side of his tongue. I need to try to look more closely, but wanted to record it before I forgot, so I will post under characteristics once I get a closer look!

Tummy problems

   After Jacob's 15 month appointment we decided to try putting him on whole milk again. We had him on the Next Step formula because the first time we tried milk it did not go over well. The doctor told us at his 15 month check up that he HAD to b on a supplement for extra calories, either Pediasure or adding Carnation into his milk bottles. Of course we chose Carnation because it is alot less expensive than Pediasure. Apparently Jacob and milk do not mix well together. He was constantly throwing up (I mean large amounts) and going through 5 outfits a day, not to mention what our house smelled like! So, we decided to try soy milk to find out if his tummy troubles were related to drinking regular milk and lo and behold the vomiting has ceased (mostly). So I guess we will stick with soy milk and mix in the carnation with it and go from there...

Children's Mercy..Ugh

Sometimes I am really happy with Children Mercy's service and sometimes they really irritate me! I was told when Jacob started his thickener that they had a home delivery service that would deliver his thickener once a month for us and they set it up and everything. 2 months after our first delivery, nothing. I have no number to call and we are almost out of thickener and about to head out of town. After calling a billion numbers and even asking if I can just run up there and have some packets to get us through our trip, I finally get to the right person. They act like they don't normally do this, but they will place my order for me. So, next time I think they will deliver after the month is up without me having to call. 6 weeks, no delivery so I call again and this time ask if I can get on a monthly schedule. They claim they are trying to get that set up. 2 months later, no delivery. I call again today since we are almost out again and the driver tells me that I waited too long to place my order and I need to call when I have at least a weeks worth left, etc, etc and is really rude. I ask him again if there is any way to get on a monthly schedule. He says they just can't get the schedule worked out because they have so many families. Frustrating! I wish they would tell you this all when you start out..Ok, just had to vent on that. I just hate when people are rude to you, especially when you have enough on your plate without having to worry about constantly checking your thickener supply..

Inside My Head

   Sometimes I get on the chromodisorder.org website and read the stories on there. It helps me connect with other families going through the same thing and sometimes puts things into perspective. Alot of the families are dealing with the same things we are and some of them have it alot worse off. I hate reading updates that a child has passed from complications due to their genetic disorder. It makes me thankful that Jacob doesn't have any life threatening health problems related to his, but also makes me think about the future. I rarely think about it in relation to Jacob right now and try to take it one day at a time, but every now and then I do wonder what his limitations will be, how dependent he will be on us, when he will/will he ever be able to do certain things...Ben gets more upset about it when we are around friends that have babies the same age or younger than Jacob that are far more advanced than he is. Sometimes you don't realize how far behind he is until he is next to another child his age. We are kind of in our own "World of Jacob" right now. I try to take it day by day, but every now and then the reality of what might be creeps into my mind and I wonder if I have the strength for it. I think God gives us what we need to take care of our children.

Therapy

   I am  so ready to get back on track with therapies again. We have been at a standstill since the beginning of the summer. We were using therapists through a free state service here called infant Toddlers, but I have not been happy with the therapist we had. I have heard alot of great things about the program, so don't get me wrong, I am sure if you have the right therapist it is an awesome program to utilize. Unfortunately the one we got was not what I was looking for, so we will be trying Children's Mercy Physical and Occupational Therapy. I still need to make sure those therapies are covered under our Health Insurance plan otherwise we might get an unhappy surprise int he mail later! Anyhow, Jacob has his first session on the 29th so I am  hoping for a big difference in therapy styles and some improvement in areas that have been slow going for a awhile now like eating and large motor skills

On my mind..

  I have 3 different thing son my mind this morning...One, I am wondering if Jacob has alot of the symptoms of another genetic disorder called SMS. It is a deletion of chrom. 17, but a larger chunk. You can look up more on prisms.org. One of the characteristics is lack of need for sleep. Jacob has been waking up at 5:30am every morning, waking throughout the night (and playing) and not taking naps (as I mentioned earlier). That is enough to exhaust and parent! Add that to the fact that he requires more care than an average child and you have very tired mommy..Anyhow, I will keep you informed if this is a lasting characteristic and hoping it is just a phase!
   Secondly, we are heading to the doctor this afternoon to check his ears (he had an infection a few weeks ago) and get his shots since he was too sick to get them last time. Last appointment I asked the doctor if he was eligible for the RSV shot this year since last year he was in the hospital for 10 days with a very severe case of it and he has chronic respiratory problems. It frustrates me to find out that you have to be one of 3 things to get the shot..1. Be born before 24 weeks 2. Have a heart murmur 3. Have chronic lung disease and be on O2. Each shot costs $1000.00 out of pocket. If Jacob lands in the hospital again, which is likely, then insurance will be paying alot more than $1000.00! Just makes me mad and I had to vent!
    Ok, third thing, I want to eventually start some fundraising for some of the things that we have had a rough time with in this journey in hopes to help other families as well as research for rare genetic disorders. I have a few ideas, but I would love to hear some others. So if you have one, please let me know!

Stats

Here are Jacob's stats at 15 months:
Weight: 17lbs 13.2oz. (0%)
Length: 30.5 inches (28%)
Head Circumference: 43cm(0%)

 He is tall and skinny! I think we will have to throw a party when he reaches 20 pounds, which may end up not being until his 2nd birthday at this rate!

                                                                                                                  

Teeth

   So apparently Jacob is getting two teeth in at the same time. He already has his top two and bottom two and now is getting another on top and a molar on bottom, which is weird that he would get a molar before he gets all of his main teeth. I also noticed that his two bottom teeth are extremely small and wonder if that is part of his genetic abnormality. If I can get a good picture of them I will post it on here. Ben noticed the same thing so I know I am not crazy! We will see what the other teeth look like when they come in, but just something to note.

A little Exhausting

Lately Jacob has decided that naptime is unimportant so he has been knocking his naptime down to about 30-45 minutes a day. This started about 2 weeks ago and I don't see any light at the end of this tunnel! No naptime? How am I going to get through the day with no naptime? My other 2 at least waited until they were 2 to give it up. I have tried pretty much anything I can think of to extend it too..from being really quiet to trying different times of the day and even letting him take 30 minutes and then seeing if he will take another short one later in the day. He has also decided to make his bedtime later than it used to be, although I will admit that he used to go to bed pretty early (6:30) and waking up earlier. It is making for a really loooong day and I was wondering why I was so tired all the time....Gee, I wonder?

Jacob's Favorite Things

Some of the things that Jacob really loves right now are his sissy and brother. He absolutely adores his sissy and she loves him equally as much. She can always get a smile and a laugh out of him. Slides are one of his new fascinations and he thinks it is hilarious to go down by himself and with other people. Swinging will also get lots of laughs out of him. He just learned how much fun peek a boo is, so anyone who will play with him is his new best friend and of course his mommy and daddy always get him excited!

15 Months

Jacob is 15 months old as of August 29th! He can sit independently pretty well now, although shopping carts and other things that take alot of strength or stamina are still hard for him at times. He rolls all over the place, so no more staying in the same spot. He hasn't started pushing up with his arms all the way yet or tucking his knees under in attempt to crawl yet and has no desire to bear any weight on his legs to stand. Our goal is to hope that he might be starting to crawl by 18 months. We will be starting to do some Physical and Occupational Therapy at Children's Mercy at the end of this month, so maybe that will help him figure some things out. I will post again at 18 months and let you know what progress he has made in this area...

Jacob's Nutritional Needs and Meds

Jacob has to be on a thickener to thicken all of his bottles. Each packet costs about 33 cents and we use about 5 a day ($50.00/month). He has been put on a lung medication that has to be take twice a day through his nebulizer throughout winter in hopes that he won't get put back into the hospital with a respiratory infection ($35.00/month). He also has Albuterol which is used when needed as he develops any wheezing or difficulty breathing. He is supposed to be on Pediasure for his poor growth but since the cost is about $10.00 for 6 bottles and he would use about 4 a day that adds up to about $200.00 a month. We are trying Carnation instant breakfast mixed with whole milk. Still expensive, but cheaper than Pediasure. He is still on baby food as well so he goes through about 5 containers a day to try to add calories ($75.00/month). That boy is expensive! We spend about $250-$300/month just on nutritional needs!

What I Love

Jacob has the most amazing blue eyes you've ever seen. His smile could melt anyones heart and you can't help but smile back. He has a sweet and loving disposition and his excitablity is contagious. Although he is behind developmentally, every milestone he reaches is heightened because it has taken him so long to get there. We are able to treasure the little things more and realize what a miracle it is that he is here to touch our lives everyday!

Characteristics

Jacob is 15 months old and here are the Characteristics we have noticed so far. I will add to this list as he gets older.
  Physical:
Microcephaly (small head)
Poor Weight Gain
Broad nasal bridge
Epicanthial folds of the eyes
Downturned mouth
Ear Pits and low set ears
Very coarse and fast growing hair


Biological/Developmental Characteristics:
Developmental delay
Increased upper respiratory infections
Suck/swallow problems
Increased gag reflex (can't eat anything that is not pureed or liquid)
Intermittent Hypotonia
Decreased sensitivity to Pain( just started noticing this one)


Behavioral:
Increased excitability
Hand squeezing
Oral fixations

What's wrong with Jacob?

     Once we brought Jacob home from the hospital we assumed everything would be smooth sailing. He had trouble latching on for the first 3 months, but I figured it was because he was so little. As he got a little bit bigger I noticed that he looked a little different than my other 2 kids, he was still measuring extremely small and not catching up and his head size wasn't even close to being on the charts. Again I disregarded my feeling that something wasn't quite right. I also noticed that he was getting alot of upper respiratory infections and colds and by the time he was 6 months and wasn't even close to rolling over yet I knew something was wrong. At his 4 month check up, the doctor suggested he have some genetic testing done to make sure everything was normal and start some Physical Therapy to help him with his development. "Surely he doesn't have a genetic abnormality," I thought. So I ignored that request and started to research on my own. At Jacob's 6 month appointment I decided we should go ahead and get the genetic testing done, so they drew his blood (for the hundredth time since he's been born) and we waited. Shortly after his appointment, he got an extremely bad respiratory infection called RSV that put him in the hospital for 10 days. Normally a child that gets RSV is in for 2-5 days. Jacob gets extremely sick and everything he gets is exaggerated. By this point I knew something was wrong and I waited by the phone for the genetic results. They came back normal. "Something is not right," I thought. I started researching more and started to push the doctor more about other testing we could do. She ordered a Swallow study, and MRI, a neurology apt, a gastrointestinal Specialist and a Genetic Specialist. The next few months were a whirlwind of testing and appointments. The Swallow study revealed that he was aspirating his bottles which could be contributing to his constant respiratory infections, so he was put on a special thickener. We waited for 3 months to see the neurologist and he ended up being our saving grace. He had ordered a very specialized test called a Micrarray analysis to test for extremely small genetic deletions. Only a few hospitals in the country have this particular test and Children's Mercy is one of them. As soon as he saw Jacob he knew that it was genetic. We waited for the test results to come back as patiently as possible and ironically on the day he was scheduled to meet with genetics, they had the answer. Jacob has a microdeletion of Chromosome 17. What does that mean? We don't know. What is his prognosis? We have no idea. What problems will he have? Don't know. Jacob is the only case they know of that has this particular genetic deletion, so our experience with him is all we have to go on. I will be posting stuff on here as we travel up "Jacob's Ladder"....

Jacob 5 months

11 months (almost)

From the Beginning

     Ben and I decided to try for our Third baby in August of 2008. By the end of September we were pregnant (much do Ben's dismay). My first 2 pregnancies had been textbook so we assumed this one would be the same and it was up until about the 24th week. Jacob started measuring small, so I was sent to the specialist to check the placenta, measure Jacob and make sure everything was on track. It turned out that he wasn't growing quite the way he should, so they continued to monitor me through the rest of the pregnancy. He started in the 25th percentile for size and by 37 weeks had dropped down below the 5th. At that point I was sent in to be induced immediately in hopes that he would grow better on the outside. Labor was long and intense with him. I became extremely sick and was having trouble dilating past a 2. Finally after being in the hospital for 30 hours, Jacob Thomas Petry was born at 2:17am on May 29th, 2009. He was tiny and only weighed in at 4 lbs 11 oz. The nurses noticed he was having trouble breathing so after holding him  for about 10 minutes, he was taken to the special care nursery to be monitored. I was exhausted and was moved to the postpartum  room  to sleep. The next morning I immediately wanted to go see him  and we were taken to the Special Care nursery where we were told that he was having significant trouble breathing and would be immediately taken to the NICU.  Jacob ended up spending 3 weeks in there, was intubated twice, hooked up to everything imaginable and finally got to be sent home on June 17th, which ironically was his actual due date! We had no idea that this was just the beginning of an even longer journey ahead...