Thursday, August 27, 2009

Hooray! They were able to set up an appointment with Peds Pulmonary at Johns Hopkins for next week too! But, it is on Wednesday at 2:30...so we will be driving down on Monday and not coming back until late on Wednesday night. But, I am so relieved to be seeing the neurosurgery and the pulmonary specialists who know about achons specifically. I so hope to be reassured that things are ok. Max is so much more alert and awake now and he is absolutely BEAUTIFUL!! What a blessing he is :-) Aiden and Emmi adore him.
Emmi has been so adorable the past several days. She has been a real mommy's helper. We say that we are in the "Girls Club" and we even have our own handshake (very silly handshake). She loves to just hang out and shop. Max is an honorary member of the "girls club" because he needs mommy to eat...she loves that he gets to come along everywhere.
Aiden is rounding out his first full week of first grade and he comes home each day with a smile on his face. So far he is really enjoying it. Thank goodness!! He is so smart. I am amazed everyday at how much he knows and how far he has come on his reading. He LOVES math and is really quite good at it.
Things here are starting to get into a routine. I have actually COOKED dinner this week...this is so unlike me!! hahahaha! And the kids have been getting to bed at a reasonable time (except Max of course...but he did sleep for a 5 1/2 hour stretch last night! yeah Max!!). Hopefully things go well at Johns Hopkins next week and we at least come home knowing if there are any issues and what we need to do next. (Praying for no issues and nothing major to do next--would love any additional prayers for this too!!)
Will keep posting pictures and updates soon!!
Well, Max is sleeping so I have a little time to update everyone. It has been a busy week. Max had his "feed and wrap" MRI last Thursday. He was a champ and slept through it!! He only moved a little but they were able to get the pictures without sedation :-) The neurologist emailed me and said the MRI didn't show any significant cord compression but that they had suggested other images...she was on vacation and was going to go and read it with the neuroradiologist this week and find out more... The wording no SIGNIFICANT cord compression bothers me... there either IS compression or there ISN'T!...I will try to get in touch with the neurologist today...

He also had a sleep study last Friday night...What luck that was. I called to schedule it and they gave me September 21st. That seemed like an eternity away so I asked if they had a cancellation list I could put our name on and he said yes. Then he said, "actually, we have an appointment tonight." It was 4:30pm and we needed to be there at 7:30pm and Eric was in Austin!! But, Max and I made it there and had the study done. I could not believe how many wires he was hooked up to! I would guess no less than 20! Poor little guy. He had such a hard time nursing because so many of the electrodes were on his head and face. I was so glad to be out of there in the morning. I brought him home and the kids, daddy and I gave him a nice warm bath to get all the goo off of him! They should have the results of the sleep study today. Hoping it was all ok!

We are going to Johns Hopkins this coming Tuesday to be seen by Genetics and Peds Neurosurgery and hopefully Peds Pulmonary. I am so looking forward to going and seeing doctors who deal with Achondroplasia all the time. I love my pediatrician but Max is his first achon patient. He has done tons of research though and I really appreciate that. I need reassurance from doctors that know what is normal for Max and what isn't. At least if they do find something to be so concerned about, there will be a game plan as to what we need to do next. We are taking his x-rays, MRI and sleep study results to be reviewed by the doctors there. Aiden and Emmi will stay home since Aiden has started FIRST GRADE already!!

I will keep you all posted on how things go next week. I hope to get time more frequently to update this blog...Max controls my time these days...he EATS nonstop!!! Oh, by the way, he weighed 10# 3 oz yesterday at his pediatrician visit!! What a chunk!! :-)

Thursday, August 20, 2009

Well, we got our MRI today. Amazingly, Max slept well last night. I basically had to force feed him at 2am because I knew I wasn't able to feed him after that until right before the MRI at 7:30 am. Then he went back to sleep until 4:45am. When we got to the hospital, he was REALLY hungry and was ready to eat! He nursed and fell asleep. He was so cute and looked so small in the MRI scanner. I had swaddled him up in his little swaddler and they tucked him in really snug for the scan. He looked like a little angel :-) It took about 30 minutes and it was so loud! I have never had an MRI and was amazed at how loud it was despite the ear plugs that they gave me. The tech came in and said he did a great job. He moved his head a little once but she was able to redo that picture so she thought it was an acceptable scan. Hopefully the radiologist will agree. So now we wait for the results. I hope it looks ok... I am very nervous...

The kids and I gave him another bath out of the deck today. He hates lying on his back in the tub but when I flip him over on his stomach on my arm, he calms right down and seems so happy! I have posted several pictures of him like this. I went to the neighbors tonight for a ladies night out and, of course, he slept all evening for Eric...which means he will probably be up all night for me...I don't mind though...I love spending the time with him.

Well, everyone else is snoozing. I should probably try to get some shut eye, although I know as soon as my head hits the pillow, he will wake up. We have orientation for Aiden tomorrow morning at 8am. He gets to find out who his first grade teacher is and which of his buddies are in his class. How exciting! School starts Monday...summer went so fast... I can't believe my first baby is in first grade already!
G'night!

Emmi LOVES her baby brother!!!

WOW!! He is the CUTEST!!

More Bathtub Pics--Max loves tummytime in the bathtub!!

Wednesday, August 19, 2009

Bathtime out on the Deck

Well, I am officially exhausted. Max is a really good eater, especially in the middle of the night :-) At the pediatricians last Saturday, he weighed 9# 8oz!!! (He was 8# 4.5oz at birth) He is not missing any meals at this point!
We are scheduled for his MRI tomorrow morning. It is a "feed and wrap" MRI, which means we get him really hungry and tired overnight and then swaddle him and feed him right before the MRI. The hope is that he will eat and sleep for a long time while they get the MRI without sedation. I guess this can work in the little ones (up to 3-4 months). It is going to be a LONG night! He will be SOOO mad at me for not feeding him. Eric is going to have to hold him after his last feed at 2am. It would just be mean for me to hold him and not feed him :-(
He is being scheduled for a sleep study overnight at Rainbow soon. We haven't heard back yet when that will be done. I will keep you posted.
I will (hopefully) write more tomorrow and fill you in on the success of our MRI. We would welcome any and all prayers that they are able to get the MRI and that it is normal...thanks!

Sunday, August 16, 2009

Hello Everyone!!
Well, this is my first real post... I figured I would start at the very beginning of things for those of you who don't know about our newest addition, Max!! It was so helpful to me to go and read other parents blogs about how they learned out about their child's diagnosis, so I figured I would put down our own story and maybe it will help someone else. It will also help bring those who do know a little of the story up to speed. (this may get a little long winded...sorry)

Well, it was a pretty uneventful pregnancy (third one) outside of a lot of nausea and a displaced rib and other aches and pains, but no baby issues at all :-) We were induced at 38+ weeks (by choice) and had an uneventful labor and delivery. Max was borderline large for gestational age (8# 4.5 oz) and had a low blood sugar. They were concerned that maybe I had had gestational diabetes that was undiagnosed (which I did not) so they followed blood sugars on him every 4-6 hours. They were all fine after the initial blood sugar.

The neonatologist (not our pediatrician-he does not have privileges at the hospital that I delivered at) came in about 10 hours after birth and told me she was concerned that his upper arm and upper leg were "mildly disproportionate" --a little shortened. She said she was concerned about achondroplasia...this was shocking news..outside of knowing that achondroplasia was dwarfism, I had no other information about it. We were seen by a second neonatologist on the second day who was very underwhelmed about his limbs and felt that if she hadn't been told to look for it, she probably wouldn't have noticed anything out of the ordinary. This was very encouraging to us. She was a lovely person and had such a wonderful bedside manner. We saw our pediatrician the day after we went home because Max's bilirubin was elevated and he was following up on this. He was very drawn to the shape of Max's hands and felt like his upper arm and upper leg were "possibly" a little shorter. (Of interest, my father's upper leg bones are very short and several inches shorter than my mom's. He is 5'8" and she is 5'2"). This was all reassuring to us... We saw genetics 4 days later and the geneticist was also very underwhelmed by Max's appearance. She ordered the skeletal survey but was very casual about it and we were getting more and more comfortable that all was going to be normal. We had the x-rays done and called the next day for the results. We were told that the skeletal survey was abnormal and was, in fact, very consistent with achondroplasia. We were shocked. Actually, genetics said they were pretty shocked too...(looking back, I believe this to be because of a lack of experience on their part- Max's hands are the CLASSIC trident hand). They ordered the blood test to be done to detect the mutation associated with achondroplasia or possibly, hypochondroplasia. This was drawn on a Thursday and sent overnight to Oklahoma. We were told it would take 10 business days to get the result. Despite being a doctor, I could not bring myself to go on the computer and do any reading on achondroplasia. I was so afraid of what I was going to read that I was really unsure what a diagnosis of achondroplasia would really mean besides short stature. 1 week later we received the call from genetics that the test had come back and that Max has the most common genetic mutation associated with achondroplasia. We were devastated.... After the initial shock wore off, I was able to sit at the computer and start looking for information. I went to the Little People of America website and started getting information. I ended up finding blogs of parents who have little ones the this condition and started reading all of their stories. Their children were so beautiful... I read the story of one couple who was told during pregnancy that their child likely had a fatal skeletal dysplasia and they had prepared themselves for the fact that they would give birth to a child that would likely only live for hours to days. When he was born, he had achondroplasia and they were DELIGHTED! They were going to have their child...he may have some medical issues to deal with, but he was going to be healthy and with them... This was very inspiring...

From the onset of all the uncertainty about Max's condition, I have felt so fortunate to have him. There are so many worse things that we could be dealing with now and he is here with us, eating like a champ, looking at us, getting ready to smile :-) He is amazing and I love him to pieces!

We actually had dinner last night with a couple that the Genetics Counselor had put us in touch with. They are both Little People and they have 3 children, 2 LP and 1 average height. They were actually the first little people that I have ever met (outside of the cutie that I gave birth to!). What a super couple! They were so helpful in answering all of our questions and giving us information on what things to look out for and what to expect. I was so reassured after meeting them. They are such a happy, healthy couple that just happens to be of short stature.

I truly believe that everything happens for a reason... even if we don't ever know why. We were given this little angel to love and he will change our lives and the lives of all those around us. I worry about the medical complications that can arise in infancy and early childhood and I worry about social obstacles that he will have to overcome. I know that our family and friends will always be there, helping him grow into an amazing Little Person :-) I wouldn't change Max for anything. He is exactly how God intended him to be and I am so grateful to have him as my son.

Well, that is all for tonight... we will be getting an MRI and a sleep study in the coming weeks... I will keep you all up to date on these and on how Max is doing at home. I will post more pictures too. He is a very photogenic little guy! Can't WAIT until he smiles :-)

Wednesday, August 12, 2009

Hello!!
Well, I think I am blogging impaired because I am having a really hard time figuring out how to do this so bear with me...
I will try to keep anyone interested up to date with Max's progress and all the wonderful things he is doing :-)
Stay tuned...