I aim to relay information from the best people possible to treat the issues relevant to our kids. Because of that, I take quick notes while in workshops- whatever they are. Due to the private nature of many workshops, the notes I take are usually for me- but the workshop I love the most is the one about hypochondroplasia and achondroplasia. So much information is exchanged, and while I remember a lot and am sure I know the facts, what I write down I know I had just heard. For that reason, I want to share just my notes with you (so don’t mind the shorthand)!
If you ever have any questions, or want more information, please ask! I would be glad to do more research and talk to our doctors to elaborate. Lots of love and thank you for reading up about two different types of dwarfism in our community! And so, without further hesitation, my notes from the Hypochondroplasia and Achondroplasia Workshop at #lpaSD2014.
Click image to open information about Achondroplasia from Nemours site
Click image to open information about Hypochondroplasia from Nemours site
- Connection between hypochondroplasia, ADD and LD (learning disorders). No real research since the 70’s, 25% by study, show a link. They don’t know the exact number, because there isn’t enough info, and in the study that was done info is either “lost” or buried. Temporal lobe dysgenesis- abnormal development seen on MRI, can vary. Not sure if every hypochondroplastic has this or even if they do, does it really mean anything. Any actual correlation? Most likely link, seizures. But that’s also not proven.
Click image to open information in PubMed
- Higher frequency of seizures, ADD, and LD in people with hypochondroplasia compared to achondroplasia, even though the same gene is affected. Info is not better now than it was 30 years ago. (Anxiety is a separate issue, usually not related to either diagnosis). Is treatment different for ADD for a hypochondroplastic kid vs AH. Short answer, no.
- Growth hormones information from 70’s and 80’s so info is old, but no benefit to human growth hormone for achondroplasia or hypochondroplasia. Study going on now in Europe that strongly advocates for use in hypochondroplasia… but this is not supported by panel doctors, who feel results will not be supported by results in the long run. European doc results are not compelling.
- New studies… CNP (c natriuretic peptide) what are the levels in achondroplasia and hypo patients? In phase two trials, BioMarin, reasonable data that this artificial replica of a naturally occurring peptide that circulated in our blood can reduce the side effects of the issues associated with achondroplasia and hypochondroplasia.
Click Image to open information from BioMarin site
- CNP studies from BioMarin: Phase one. Adult volunteers, temp BP issues occurred. Ages 5 to 10 years, in process now. FGFR3 causes achondroplasia and hypochondroplasia. Analogy: like driving with the brake. This CNP peptide can speed it up. BUT, in all subjects, all CNP levels are actually high (in LP studied). The stumble here is the CNP resistance. It doesn’t have the same effect (analogy insulin resistance… you have to manipulate the receptor). So, can this pharmaceutical product overcome the resistance? Only tests will tell. Panel docs not all optimistic, but are interested in the results, especially if it helps increase the spinal diameter (aka help stenosis). Benefits more to the complications, not necessarily growth, associated with achondroplasia and hypochondroplasia. A very small number of trial two drugs reach past that phase. The panel docs are not involved in the study or research at all, so they have the same access to details as the general public. Issues with CNP are very complicated and bring up other questions we’re YEARS away from knowing answers to. i.e. Would treatment need to be done in utero, could it exaggerate disproportionate features…
- Is there a BP cuff for achondroplasia, how do we get it?
Yes. The extra long small adult cuff works best. The typical adult cuff is too wide and fits too much of the arm. Dr. Julie Hoover-Fong is publishing BP cuff study of adults being measured with this cuff or the typical cuff. No cuff for kids… but it is funny that they fear the BP every time (this is a personal experience for us with Addie and sleep study intake procedures). Adults should work with PCP to get a cuff in-office that works for them, but with kids, it’s not as significant… especially because so many things can affect it, like screaming or being nervous. Try leg BP, know that it is not as accurate.
- Lots of variability in achondroplasia even though the same gene is altered. But there are not different levels of achondroplasia. (i.e. There is no mild/severe/etc. form of achondroplasia.)
- As parents, don’t look for a big issue and miss something common. (example: Headaches may just be an indicator for glasses.)
- Meclizine… not convincing to doctors on the panel. To come across something randomly that helps with a genetic disorder is EXTREMELY rare.
This is what the medicine is… it’s a “stumbled upon” theory at this point
Click image for article and information: Meclozine Facilitates Proliferation and Differentiation of Chondrocytes by Attenuating Abnormally Activated FGFR3 Signaling in Achondroplasia
- Swimming. YES! Starting dives are OK (as in swimmer’s start). No high dive. No diving really at all- just not safe for an achondroplastic neck.
- Avg life expectancy is minimally less. Two issues that impact life expectancy, spinal (infancy) as well as cardiovascular vascular (adult). CNP levels in LP adults high compared to AH levels result in the likeliness of cardiovascular issues… could be a connection for achondroplasia. To keep issues at bay: Weight. BP. Diet. Fitness.
How much did you learn from this?! I love these workshops and the opportunity to go to them at National! I wish I could type quicker, but sometimes just sitting and listening is the most invaluable lesson of all!
Truly beneficial information. You’re providing all of us a great service through your diligent efforts to keep us informed. Thanks, Chelley, for all you do.
Thank you, Mikki!
martinkadelux recently posted…#lpaSD2014 Achondroplasia and Hypochondroplasia Workshop
Wow. I didn’t know any of this. Most people just think someone with dwarfism is just really short, but there are a whole host of other health problems associated with it!
Jennifer recently posted…Spooky Campfire Stories Come Alive with Audible
Indeed! And there are over 200 diagnosed forms! All different!
martinkadelux recently posted…#lpaSD2014 Achondroplasia and Hypochondroplasia Workshop
Woah, I just learned a ton from all of this. It’s great that there are so many workshops for you to get all this information in the first place. I love how supportive the community is.
Me too! We are so blessed to have this community behind us!
martinkadelux recently posted…#lpaSD2014 Achondroplasia and Hypochondroplasia Workshop
This is a very informative post. I’ve never heard of this really until now, so it’s a learning experience for many. I’m glad to know you have great resources and a strong support network!
Brittany C. @ Mom. Wife. Busy Life. recently posted…5 Ways to Beat the Bloat and Enjoy Your Favorite Foods (+Giveaway) #CharcoCapsNoMoreGas
I’m glad you learned something! The workshop was FULL of info!
martinkadelux recently posted…#lpaSD2014 Achondroplasia and Hypochondroplasia Workshop
Wow so much great information. Seriously cute swimming gal 😉
Elizabeth @ Being MVP recently posted…Oroweat “America’s Better Sandwich” $25,000 Contest | BLAT Recipe + #Giveaway
Thank you!
martinkadelux recently posted…#lpaSD2014 Achondroplasia and Hypochondroplasia Workshop
There is a lot of great info in this post. Swimming seems to be a great exercise for all kinds of kids with genetic disorders. My daughter is supposed to swim as her exercise, too.
YES! Swimming is wonderful for everyone!
martinkadelux recently posted…Birth Preferences for Your Delivery
WOW, so much information! What a great way to better face what is ahead by being educated. With my daughter, the more I learn about her disabilities the more I can help her through her upcoming struggles.
Amber Edwards recently posted…Why Kids need a Yearly Eye Exam for Back to School
Exactly- so important to be educated as parents, and to help educate and advocate publicly!
martinkadelux recently posted…Birth Preferences for Your Delivery
This is such great information. You are so wonderful for sharing what you learn with others!
Jenn recently posted…Toy Story Birthday Party Theme
Thank you, Jenn.
martinkadelux recently posted…Birth Preferences for Your Delivery
Wow, you shared a LOT of information. Thank you for this post, for bringing so much knowledge and information to people like me who knew nothing.
Paula recently posted…Johnson’s Baby is Newly Formulated!
Thank you for being so open to learning more about my sweet girl!
martinkadelux recently posted…Birth Preferences for Your Delivery
I love that you are not only a great advocate for your daughter but for other parents who are looking for more information. Bravo mama!!
Emily recently posted…BEDA: Day 5 {A Vivid Memory}
Thank you, Emily!
martinkadelux recently posted…Birth Preferences for Your Delivery
Your little sweetie faces so many challenges, but she looks like a real trooper. It’s a good thing she’s got two great parents to watch out for her.
Dawn recently posted…Is My Pet Overweight? Tools to Help Find Out and Take Action. #PerfectWeight
Thanks, Dawn!
martinkadelux recently posted…Birth Preferences for Your Delivery
I really had no idea about any of this, thank you for sharing. Education really is the key to help people understand.
kim@theysmell.com recently posted…I put water in the beer fridge…NewAir AB-850 Beverage Cooler
Yes it really is! I am so glad that I have the opportunity to help people learn!
martinkadelux recently posted…Birth Preferences for Your Delivery
Aww, your little angel is too cute swimming! She is blessed to have an amazing mommy!!!
Thank you, Amy!
martinkadelux recently posted…Birth Preferences for Your Delivery
Oh my goodness, so much information and I had no clue about any of it. I am like you, unless I make notes, I don’t remember anything. I am glad that you have detailed information have the education you need to live life to the fullest. I love how much you enjoy your little one in all of your posts and live each day fully! Hugs
Thank you, Shauna. I appreciate you taking the time to read and learn about achondroplasia and my sweet babe.
martinkadelux recently posted…Birth Preferences for Your Delivery
Awe! She is so cute. Looks like she loves the water!! So…it looks like what I learned is that there needs to be a lot more awareness and funding and research. Thank you for sharing.
jenny at dapperhouse recently posted…National Chocolate Chip Cookie Day Best Recipes Round Up
YES! That is is exactly- SO Much more to learn and so little funding to do so!
martinkadelux recently posted…Birth Preferences for Your Delivery
Such valuable information. I bet many will be thankful for
Gingermommy (@Gingermommy) recently posted…Packing tips for the Traveling Athlete
Thank you!
martinkadelux recently posted…Birth Preferences for Your Delivery
Wow, very informative! I was a nurse way back when, so I love learning about things like this. Actually, I really miss that about my life. Sigh.
Tammi @ My Organized Chaos recently posted…Everyday Moments: Captured and Shared
I’m here to help you learn more 🙂 Thank you for taking the time out to do so <3
martinkadelux recently posted…Birth Preferences for Your Delivery
Your daughter is such a strong little girl. So are you and dad! Thanks for posting such great information about her condition. I had no idea there was so much to it.
Courtney recently posted…DIY Hair Accessories Organizer
There really is. Thank you so much for taking the time to read into it!
martinkadelux recently posted…Birth Preferences for Your Delivery
I have never heard of any of this before. I just got a big educational learning!
Mama to 5 BLessings recently posted…Peppa Pig The Big Balloon Ride DVD & Giveaway
I’m so glad to hear that. I hope to educate many- the only way people will know, right?!
martinkadelux recently posted…Birth Preferences for Your Delivery
Wow! This is a very informative post. I got a lot from this. Thank you!
Sarah Marturano recently posted…10 Easy Summer Lunch Ideas for Kids
Thank you for taking the time to learn about my sweet lady!
martinkadelux recently posted…Birth Preferences for Your Delivery
I never knew swimming was so beneficial. It’s also fun. 😉 You really learned a TON in those workshops!
Liz Mays recently posted…Game On! Denny’s Partners with Atari #DennysDiners
Swimming is the best… I’m SO glad that Addie has the opportunity to do aquatic PT.
martinkadelux recently posted…Birth Preferences for Your Delivery
Thanks for sharing such important information with the world! I had never really heard of this before, but it’s good to know what to look out for.
Mindy Grant recently posted…Protect Your Identity This Summer Travel Season
Thank you for learning, Mindy! I love to share information and help people understand more about dwarfism!
martinkadelux recently posted…Birth Preferences for Your Delivery
Thank you for sharing this information with your readers. You are an inspiration and you never know who you are helping.
Thank you for your kind words, Ann!
martinkadelux recently posted…Birth Preferences for Your Delivery
I think this is super cool. Thanks for sharing.
April recently posted…13 Ways to Use EVOO during National Olive Oil Month
🙂
martinkadelux recently posted…Birth Preferences for Your Delivery
Great info! I am glad you’re a Mama that stays educated and active in what is best for your daughter! She is thriving!
Kristin Wheeler (@MamaLuvsBooks) recently posted…Top 5 Things I Loved About Blogger Bash NYC 2014 #BBNYC
Thank you so much, Kristin! When an amazing mama compliments you, makes you feel really good <3
martinkadelux recently posted…Birth Preferences for Your Delivery
Seizures totally scare me. Thanks for keeping us educated!
Janel recently posted…Pizza Factory Twisted Breadsticks
They are, indeed, a scary thing!
martinkadelux recently posted…Birth Preferences for Your Delivery
Thanks for sharing this information. I learned so much just from this post.
Stefani Tolson recently posted…Fun Ways To Organize Your Coffee Pods From Mind Reader
Thank you, for taking the time to read it!
martinkadelux recently posted…Birth Preferences for Your Delivery
I love that there’s such a great network and community of support so parents and caregivers can educate themselves. Swimming is such a wonderful sport for so many reasons.
It really is the best sport- I’m so glad she likes the water!
martinkadelux recently posted…Birth Preferences for Your Delivery
This is so interesting and informative. Thank-you for sharing your story, she is gorgeous by the way.
Thank you, Nancy!
martinkadelux recently posted…Birth Preferences for Your Delivery
Who would you state in the Bloomberg article ( http://www.bloomberg.com/news/articles/2015-07-02/dwarfism-drug-brings-mixed-emotions-for-little-people-parents ) that you would refuse the apparently life-changing therapy by Biomarin? I feel that’s totally irresponsible as parents to deny a child the exact therapy to treat their disability (essentially cure its visible manifestation for all practical purposes) that will cause them years of torment in a cruel world. So what if it’s okay to be different? It’s definitely not you being different. In fact, I think it’s an incredibly selfish choice to do that to your daughter — a choice that makes you the parent feel good for taking an applauded community stand on an issue at the expense of your daughters future.
I do love a good trolling! But while you are here, please tell me where your facts are that this drug does ANYTHING but make a kid a few inches taller, still WELL UNDER the limits for average height. While you’re compiling numbers that ARE NOT THERE, please show me where this drug says it is safe, or truly effective- as other growth enhancing drugs are proven to stop their efficacy and thus NOT fulfill their goal. You know what else is life changing? Plastic surgery. I should probably go out and get a nose job right now, because then I would be so much prettier! Hooray- to fit in and look like everyone else. How easy my life would be then! I was once mocked for being muscular… I should probably call my mother and shame her for letting kids torment me for my body type. Also my mixed religion. You know what, Mom? If you see this, I am pissed. How dare you not CHANGE ME TO FIT SOCIETY?! Now look where I am… a happy mother of two beautiful girls, the wife to an amazing man, and your (mostly) well-adjusted child. Shit… imagine if I had been “normal”?
I do NOTHING *TO* my daughter but love her, educate her, and show the world that not only is different OK, but it’s absolutely stunning. Her future is bright as can be because I won’t let people like you, with no connection to dwarfism, cloud up her life.
Side note: please don’t refer to my daughter as a “them”. Ever.
And finally, if you are going to call yourself “educated observer”, please don’t be shy. Let us know your identity so that we can be civil adults and talk- not hide behind your trolling ways, all the way in Cali… according to your address.