MOST HELPFUL POSTS
Amber - posted on 08/18/2011
Im a proud mother of a beautiful little girl, who will be 3 in nov. we found out that she had hypochondroplasia when she was 1 1/2 yrs old, we knew from birth that she was different, and the quest started from there, well lets just say it was "hell". It first started when we went to first yr check-ups, her dr kept saying that she was falling off the growth charts, and she was calling it "Failure to Thive" and also that we need to get some testing. it started with "Turner Syndrome" very common in girls. That came back negitive. Then it was off to see the Gastroenterology. They basically told us that there was no reason for her to be here. Then it was off to see the Geneticist the first time. They reviewed the xrays and felt that there was an abnormality, and will do further workup. i received a letter stating that we didnt have to come back, because lab work didnt show anything. It wasnt till she was about 15 months that i was getting concern with her height. It was also at this time period that she showed signs of delayed speech and some gross motor skills. At this point the pediatric dr. stress to the Genetics dr's and the Endocrinology dr's the need to evaluate for short stature asap. Then to "babies can't wait", people who work with speech delays, for evaluate for development disorder asap. The Endocrinology did blood test for growth hormone deficiency, which came back negitive. The babies cant wait did their testing and found nothing at the time that was serious, it wasnt till 4-5 mouths later that i had them retest her that they found signs of her being more delayed then before. So we started seeing someone about her speech, today, 8 months later, she is still in the program and has blossom with her speech! As for the endocrinology they did lots of blood work and taking xrays, looking for vitamin D and calcuim levels, which by the way came back normal.Then they wanted to take xrays of her wrists for some reason. and that came back normal again. To us it started to feel that they were making her a lab rat by doing all these test and finding nothing. so thats when they express their opinions about growth hormones several times! We have basically told them to shove it. Because we feel that she is small for a reason, there is no reason to try to change what god has blessed us with. So back to the Genetics, so we went back to see a different dr., the one we had before had left. good thing didnt like him any ways. This new dr. was really into wanting to know as much as she can about our daughter, and what she has been though. She had ordered her to have a very intensive amount of xrays down, about 15-25 of them. So we thought they had to find something on this so we went. it was so painful to watch a little go though something like that. about a month later they called us in to talk about their findings. Let me tell you, we were so excited that they had found the reason to her shortness! When they told us that is was "hypochondroplasia", we were actually blowen away. All they said really was she's going to be short, have some learning disabilites, and we are going to have to make some modification around the house and when she goes to school. Since then everything has been great. Well couple days ago went to the orthop. for our yearly check up, and they wanted to take xrays of her neck, since i wasnt expecting them to do xrays i asked why, "oh we want to check stability in her C1 and C2 vertebrae" ok no problem. So they come in ask questions like "has she ever fallen and cant get up?" "NO" i said. Now shes almost fully potty trained. then they asked "ok has she ever reverse in training, like gotten worst and never went back?" again "no". So they went on to telling me that she's baisally going to have to have surgury in the back of her neck on her spin because she has to much instability in her C1 and C2 vertebraes. All i can say is im a ball of nerves and tears. My question to you parents is Has a dr. ever mentioning this to you?
Today at being almost 3, in 3 months, and starting preschool next week, she is so full of energy and excitment. She's my world! Any infomation would greatly appreciated. And if anyone has any questions for me, i will answer them to the best of my ability.
I wish I would have found this a year ago...how have things gone? My son has a tight foramen magnum and neck instability w/ a bit of claudication. It is not unusual for chondroplasias. However, I can't stress enough the importance of having a good and experienced geneticist overlooking the care of any LP, rather than an orthopedist. Doctors who only see LPs, tend to be more conservative in their treatment. They are also very protective, they have watched my son closely for any neurological problems that would indicate the need for surgery. He has a few restrictions, that's all. He is measured and checked about every 18 mos. They are monitoring the tightening in his cervical spine closely, they tend to avoid surgery due to the concerns of anesthesia w/Achondroplasia. I hope all went well, my prayers are with you!
Sounds like you have been through a lot! A bit more than most. How are you coping? Do you have a good support network? Our Dr. is from U of Wisc. Waisman Center and on the board at LPA. He has been a great guide for us. Are you in the US-- I'd love to hear from you!
It is not unusual for a child with Hypochondroplasia to be overlooked by doctors; usually it is the parents who keep pursuing it. Many aren't diagnosed until as old as two years. My son has Achondroplasia, we have been active members of Little People of America for several years, since he was born. He was misdiagnosed before birth with a rare and lethal dwarfism, so when he was born we were thrilled to find the diagnosis of Achondroplasia! It has certainly been a wild and unexpected ride--still, one I wouldn't change for anything! I have studied Human Achondroplasia for over a decade, (medical and cultural aspects). Recently, I started a dwarfism awareness project and am working with LPA planning an awareness event. Please feel free to contact me if you have questions, or just need to talk. You can find me at dwarfaware.wordpress.com or on twitter @jenovesia or on Facebook under Jenovesia Porteo. I definitely encourage all LPs and their families to consider joining LPA--it makes this adventure much easier to navigate! :-)
Karen - posted on 11/06/2012
My husband, his father, his sister, two of her children and my daughter all have hypochondroplasia. Luckily, since we already knew of the possibility with our daughter we didn't have to go through the hell some of you had to with your children. My daughter is two and has some speech delays but is very smart and determined.
Heather - posted on 10/07/2009
You posted this question four months ago, I only just discovered this sight. I have a 12yr old boy with Achondroplasia, wow what a story, his had about 8 sets of grommetts, adnoids, tonsils out, sleep apnea tests regularly, his bones keep growing crooked as though their broken his had his ankle broken and reset with the illizaroff method which is used for limb lengthening, when he was in pre-school this year he was meant to have both legs broken and reset but got metal plates in each knee and ankle to help grow staight which will come out in a year or two, he had his finger broken and straightened 80% as their joints are soo flexible thats the best they could do, he may need spinal surgary, after doing a forward roll on bed got spasms that lasted 5hrs as the L4/5 nerves got pinched because the spinal canal is so close together. His had a little bullying at school earlier but thats all good now, starts high school next year. Contact me and let me know your childs condition and age, where you live etc and we can chat............Looking forward to it same with you Angela who also replied. Cheers!
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