The surgery for the malrotation of her intestines & the ear tubes are going to be done on July 6th in GR. This way she only has to be sedated once. They will also preform the hearing test immediatly afterwards and we will know for sure what we are dealing with. I hate to rush things , but when August is here I will feel much better - having that surgery behind us :)
On to genetics - according to her testing the number 18 chromsome has a very tiny piece missing. According to her report she said it could mean higher risk for ADD or Anxiety later on in life. Then she also has an extra piece to her #11 chromosome. Instead of 2 she has 3. This also could mean alot of different things. What those things are we are not sure yet. The next step for them is they want to test Steve and I to see if one of us carries a transposital gene. meaning that the 18 & 11 are switched indicating why she has lost a part of one and has an extra of another. sounds like they may still be leaning towards Russell Silver but the endrinologist will give us more info on her growth. We are still waiting to get in there. There is a review process in which the doctors review the cases and see who is priority. Currently we are still being reviewed. Hopefully will hear by next week.
Now I did some quick research about the 18 chromosome deletion. There are many things that can go along with it according to the site I found. The doctor today made it sound like no big deal. but what I found was kind of all too familiar. Some of the things I read talked about malrotations and hearing loss. Both of which she has. Also short stature or slow growth. I guess I have a lot more questions for them - as after Steve and I get our blood drawn - we will meet with genetics again to personally go over results. So for now - I am going to stay positive and enjoy her little cuteness :)
Too tired to write anymore - will check in later with any new information
Steph
Mallie Bean
Wednesday, May 26, 2010
Monday, May 24, 2010
Teething Ugh.....
Mallie has both front top teeth and her left eyetooth all coming in at once!!! Poor girl has a hard time eating, she is all snotty and mouth is sore. Been a struggle the last two days to get much food in her!! Someone tell the tooth fairy to make them come in so she don't have to be so miserable...... Even with all that going on she is still a smiley bean :)
Well friday we go in for her weight check - hopefully she is well over the 10 pound mark! Also we should know by tomorrow when her surgeries will take place. Still no word on the endrinologist appt. Talked with ENT today and sounds like JUNE 7TH could be the date for the malrotation surgery and tubes. HOLY CRAP that is only 2 weeks away. I will update as soon as we know for sure.
Some good news - i turned 30 sat and my friends threw me a awesome party!!! Thanks girls you know who you are. For all that showed up thanks so much for making my 30th so memorable.
Steph
Well friday we go in for her weight check - hopefully she is well over the 10 pound mark! Also we should know by tomorrow when her surgeries will take place. Still no word on the endrinologist appt. Talked with ENT today and sounds like JUNE 7TH could be the date for the malrotation surgery and tubes. HOLY CRAP that is only 2 weeks away. I will update as soon as we know for sure.
Some good news - i turned 30 sat and my friends threw me a awesome party!!! Thanks girls you know who you are. For all that showed up thanks so much for making my 30th so memorable.
Steph
Monday, May 17, 2010
Genetics & ENT Appt updates
Well today we made the trip to GR once again to meet the genetics team and an ENT specialist. The Genetics appt was what I expected - we talked about her size and where she is at right now as far as milestones. You know they point out things that could mean something. All along I have been a Google Freak and most of you know so i was pretty confident they would not tell me anything I did not already look up and I was right :) When she was about 6 months I found a site that talked about RSS or Russell Silver Syndrome. She has lots of the characteristics of the syndrome but there is no for sure test that says YES that is what it is. Its a tricky one. It has mostly to do with short stature and some can even go as far as saying its a type of dwarfism. Basically she would not produce enough of the growth hormone that the rest of us all made while growing up. We have to go to a endrineologist to determine anything with the growth hormone, so that means more bloodwork! The genetic doctor said that she does have lots of the features - but the growing thing could be its own entitity. So they sent us to get bloodwork today for chromosomal testing. This will look at all the chromosomes and see if there are any pieces missing in the genetic makeup. Only after this is done - with the results will they move forward on any other testing. It is possible Steve and I would need to be tested , if they find anything that might have happened with her genes. So we left there really with no known answers - just a few more doors to open. After leaving there we went to get her blood drawn and the poor girl.....she knows when its going to happen. She started crying while they were feeling her arms. Literally inconsolable crying!!!! The actual draw took less than a minute :)
We finally met with ENT after lunch and based on her hearing test she had two weeks ago - this doctor believes she has both conductive and nerve damage hearing loss. Since we don't know for sure how much the fluid in her ears is causing - it needs to be drained and she must be retested with the same Baer diagnostic test. They can do this in the same procedure - which is a bonus. they are currently trying to get a hold of her GI surgeon to find out when that surgery will be. So they can hopefully coordinate it all together. If the malrotation surgery will be out a ways they are not going to wait on the tubes. So maybe by the end of this week we will have an idea of when that will all take place. I was not super impressed by the ENT doc only because I want to believe that maybe most of her hearing is from the fluid. He did not really say that - but that she will probably need to fitted for hearing aides. I was prepared to hear that though because if there is any chance she can hear at all - I will do whatever!!! would I like her to hear without aides, YES! but if they make a world of difference then hell yes - and who cares :) Maybe I was not impressed because he did not tell me what I wanted to hear, but the facts as they stand today. So I guess nothing personal against him, just me being hopeful.
So that is is for now - Here is the breakdown at the moment.
Chromosomal blood testing - awaiting results
Endocrineology - awaiting appt
Malrotation surgery - awaiting date
Tubes - hearing test - awaiting date
Follow up to developmental - 4 weeks post op from malrotation surgery
Boy Mallorie has such a social schedule already and she is only 8 months :) I will update soon - again thanks for all the support and prayers - Steve and I have the best friends and family anyone could ask for!
Steph
We finally met with ENT after lunch and based on her hearing test she had two weeks ago - this doctor believes she has both conductive and nerve damage hearing loss. Since we don't know for sure how much the fluid in her ears is causing - it needs to be drained and she must be retested with the same Baer diagnostic test. They can do this in the same procedure - which is a bonus. they are currently trying to get a hold of her GI surgeon to find out when that surgery will be. So they can hopefully coordinate it all together. If the malrotation surgery will be out a ways they are not going to wait on the tubes. So maybe by the end of this week we will have an idea of when that will all take place. I was not super impressed by the ENT doc only because I want to believe that maybe most of her hearing is from the fluid. He did not really say that - but that she will probably need to fitted for hearing aides. I was prepared to hear that though because if there is any chance she can hear at all - I will do whatever!!! would I like her to hear without aides, YES! but if they make a world of difference then hell yes - and who cares :) Maybe I was not impressed because he did not tell me what I wanted to hear, but the facts as they stand today. So I guess nothing personal against him, just me being hopeful.
So that is is for now - Here is the breakdown at the moment.
Chromosomal blood testing - awaiting results
Endocrineology - awaiting appt
Malrotation surgery - awaiting date
Tubes - hearing test - awaiting date
Follow up to developmental - 4 weeks post op from malrotation surgery
Boy Mallorie has such a social schedule already and she is only 8 months :) I will update soon - again thanks for all the support and prayers - Steve and I have the best friends and family anyone could ask for!
Steph
Thursday, May 13, 2010
8 months and a big milestone
So I am a few days late but on tuesday (5-11-10) my little peanut rolled over all by herself!!!! Just one day past 8 mo old. Just a little behind, but better late than never:) This week has been nice to not have to worry about doctors and appts. Next Monday we head back to GR to meet with genetics and the ENT specialist. I have no idea what to expect anymore when we go to appts. So far I have been surprised by everything!! I am really anxious about both appts, but the ENT one for sure. I got the official results of her hearing test in the mail last friday and it was not very good. I am truly hoping that her nasal stuffiness for the last 8 mo has contributed to fluid or whatever is going on with her ears. No word yet from the GI doc about scheduling her surgery for the malrotation. Of course I will update as soon as I can. This weekend is suppose to be nice - so I have a date with my landscaping....some TLC is in order!
Thursday, May 6, 2010
The aftermath
Ok, so now that I have let everything soak in - I am ok with things today! I need to not focus so much on the what if's and the far away future. Need to live in the moment and realize the progress we have made already. She is my little cutie patutie and nothing will change that. With that being said today we bumped her up to 26 calories per ounce in her formula. We still have that other issue - her weight! She still needs to keep consuming between 18-20 ounces a day - and let me tell ya , its a struggle sometimes. Hopefully her Malrotation of her small intestines will at least help with her food intake. I made several calls today and we did get lined up the genetic appt and the ENT appt on the same day!! both are set for May 17th. Surgery is still a no go because the surgeon in charge is out right now on a family emergency. I would guess within the next month or two that will be scheduled. So for now we will just take one day at a time and by the looks of things - we get a break from GR next week:) Thanks everyone for the love, support & prayers! We truly are blessed to have such wonderful people in our lives to help guide us and give us strength to make it thru this tiny obstacle.
Steph
Steph
Wednesday, May 5, 2010
MRI results :(
The doctor from GR developmental called me back tonite and the news is so disheartening. Our hearts hurt for Mallorie the most. The MRI shows moderate brain damage - that will effect her gross motor skills. At this point we really don't know what the future holds for her and her development. I am trying to stay positive because that what I am suppose to do. It is really hard because the statistics are not really great. All the thoughts are running through my head of the what if's. There is nothing I could have done differently - I just want to know why? Why did this happen to my precious baby girl. She does not deserve this! I can't help but wonder, if she will be able to sit, walk, talk.....its all up in the air right now. We can only get her the best of everything when it comes to care and hope for the best! The next step is to follow up with the ENT for her ear fluid and to get her surgery done for her intestines. Keep getting good nutrition and following up with all the developmental doctors. We just have to stay focused on the postives and push forward to give her the life she deserves.
Mallie's Story
I decided to start a blog to tell Mallie's story and keep everyone informed. It is so hard to contact everyone - as we appreciate all the care and concern and prayers. So it here it goes.
Mallie was born full term at 4 pounds 4 ounces on September 10th 2009. From about 20 weeks on I was monitored because of her small size. She slowly started to taper off in her growth towards the end. Eventually she just quit growing. We don't know at this point if it was a placenta issue or if there is something genetically wrong. She has struggled gaining weight and wanting to eat since she was born as well. Therefore her growth has been consistant but she is nowhere near catching up to that is considered the normal size of kids her age. We followed up 3 weeks ago in GR to a developmental clinic - where she was evaluated and several tests were ordered. She is behind especially on the gross motor skills. Because her developmental delay and her size, the following tests have been done so far. She had an Upper GI, MRI, Hearing screening and blood work. The bloodwork came back fine:) The upper GI was a surprise to us showing she has a malrotated small instestine. Meaning that her instestines did not form or attach properly during development. She will set to have surgery soon to correct that problem. They are awaiting the MRI results to come back. Yesterday we had the MRI and the Baer hearing testing done. She needed to be sedated for that - which the oral sedation worked perfect for her and she did awesome with! During the MRI they did see something abnormal so an IV had to be put in and die administered for better contrast pictures. The poor girl they poked her so many times:( After the MRI the hearing test was done and the result of that made my heart sink. She has some fluid in her ears, but the audiologist was pretty sure she has some hearing loss - mostly in the left ear. We just can not guage the amount with the fluids in the ear. So now she needs to be referred to a ENT specialist to get the fluid out somehow and be retested for more accurate results. As for the MRI - the results are in but there is noone to tell us the results. Dr. Leikert here in ludington her regular pediatrition has them, but would prefer if the Neuro developmental Dr in GR explain the results to me. I am going out of my mind right now waiting to hear from them. They are not very good at being on top of things there! The doctor was out today and the nurse can't tell me anything. I told her that someone needs to call me even if its tonite! WE need To know!! Also we still have yet to meet with the genetic specialists yet and see what they have to say. That appt is set for July 13th - we are on a waiting list to get in sooner. But with surgery on the horizon I just don't know when this is all going to take place. So as of now we are waiting impatiently and trying to stay postive. I will post more as soon as I know.
Steph
Mallie was born full term at 4 pounds 4 ounces on September 10th 2009. From about 20 weeks on I was monitored because of her small size. She slowly started to taper off in her growth towards the end. Eventually she just quit growing. We don't know at this point if it was a placenta issue or if there is something genetically wrong. She has struggled gaining weight and wanting to eat since she was born as well. Therefore her growth has been consistant but she is nowhere near catching up to that is considered the normal size of kids her age. We followed up 3 weeks ago in GR to a developmental clinic - where she was evaluated and several tests were ordered. She is behind especially on the gross motor skills. Because her developmental delay and her size, the following tests have been done so far. She had an Upper GI, MRI, Hearing screening and blood work. The bloodwork came back fine:) The upper GI was a surprise to us showing she has a malrotated small instestine. Meaning that her instestines did not form or attach properly during development. She will set to have surgery soon to correct that problem. They are awaiting the MRI results to come back. Yesterday we had the MRI and the Baer hearing testing done. She needed to be sedated for that - which the oral sedation worked perfect for her and she did awesome with! During the MRI they did see something abnormal so an IV had to be put in and die administered for better contrast pictures. The poor girl they poked her so many times:( After the MRI the hearing test was done and the result of that made my heart sink. She has some fluid in her ears, but the audiologist was pretty sure she has some hearing loss - mostly in the left ear. We just can not guage the amount with the fluids in the ear. So now she needs to be referred to a ENT specialist to get the fluid out somehow and be retested for more accurate results. As for the MRI - the results are in but there is noone to tell us the results. Dr. Leikert here in ludington her regular pediatrition has them, but would prefer if the Neuro developmental Dr in GR explain the results to me. I am going out of my mind right now waiting to hear from them. They are not very good at being on top of things there! The doctor was out today and the nurse can't tell me anything. I told her that someone needs to call me even if its tonite! WE need To know!! Also we still have yet to meet with the genetic specialists yet and see what they have to say. That appt is set for July 13th - we are on a waiting list to get in sooner. But with surgery on the horizon I just don't know when this is all going to take place. So as of now we are waiting impatiently and trying to stay postive. I will post more as soon as I know.
Steph
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