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 :-)