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.
- 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.
- 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.
- 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.
- 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!
Michelle Carnevale says
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.
martinkadelux says
Thank you, Mikki!
martinkadelux recently posted…#lpaSD2014 Achondroplasia and Hypochondroplasia Workshop
Jennifer says
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!
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martinkadelux says
Indeed! And there are over 200 diagnosed forms! All different!
martinkadelux recently posted…#lpaSD2014 Achondroplasia and Hypochondroplasia Workshop
Robin (Masshole Mommy) says
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.
martinkadelux says
Me too! We are so blessed to have this community behind us!
martinkadelux recently posted…#lpaSD2014 Achondroplasia and Hypochondroplasia Workshop
Brittany C. @ Mom. Wife. Busy Life. says
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!
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martinkadelux says
I’m glad you learned something! The workshop was FULL of info!
martinkadelux recently posted…#lpaSD2014 Achondroplasia and Hypochondroplasia Workshop
Elizabeth @ Being MVP says
Wow so much great information. Seriously cute swimming gal 😉
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martinkadelux says
Thank you!
martinkadelux recently posted…#lpaSD2014 Achondroplasia and Hypochondroplasia Workshop
Pam says
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.
martinkadelux says
YES! Swimming is wonderful for everyone!
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Amber Edwards says
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.
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martinkadelux says
Exactly- so important to be educated as parents, and to help educate and advocate publicly!
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Jenn says
This is such great information. You are so wonderful for sharing what you learn with others!
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martinkadelux says
Thank you, Jenn.
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Paula says
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.
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martinkadelux says
Thank you for being so open to learning more about my sweet girl!
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Emily says
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!!
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martinkadelux says
Thank you, Emily!
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Dawn says
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.
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martinkadelux says
Thanks, Dawn!
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kim@theysmell.com says
I really had no idea about any of this, thank you for sharing. Education really is the key to help people understand.
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martinkadelux says
Yes it really is! I am so glad that I have the opportunity to help people learn!
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Amy D says
Aww, your little angel is too cute swimming! She is blessed to have an amazing mommy!!!
martinkadelux says
Thank you, Amy!
martinkadelux recently posted…Birth Preferences for Your Delivery
Shauna says
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
martinkadelux says
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
jenny at dapperhouse says
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.
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martinkadelux says
YES! That is is exactly- SO Much more to learn and so little funding to do so!
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Gingermommy (@Gingermommy) says
Such valuable information. I bet many will be thankful for
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martinkadelux says
Thank you!
martinkadelux recently posted…Birth Preferences for Your Delivery
Tammi @ My Organized Chaos says
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.
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martinkadelux says
I’m here to help you learn more 🙂 Thank you for taking the time out to do so <3
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Courtney says
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.
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martinkadelux says
There really is. Thank you so much for taking the time to read into it!
martinkadelux recently posted…Birth Preferences for Your Delivery
Mama to 5 BLessings says
I have never heard of any of this before. I just got a big educational learning!
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martinkadelux says
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
Sarah Marturano says
Wow! This is a very informative post. I got a lot from this. Thank you!
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martinkadelux says
Thank you for taking the time to learn about my sweet lady!
martinkadelux recently posted…Birth Preferences for Your Delivery
Liz Mays says
I never knew swimming was so beneficial. It’s also fun. 😉 You really learned a TON in those workshops!
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martinkadelux says
Swimming is the best… I’m SO glad that Addie has the opportunity to do aquatic PT.
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Mindy Grant says
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.
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martinkadelux says
Thank you for learning, Mindy! I love to share information and help people understand more about dwarfism!
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Ann Bacciaglia says
Thank you for sharing this information with your readers. You are an inspiration and you never know who you are helping.
martinkadelux says
Thank you for your kind words, Ann!
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April says
I think this is super cool. Thanks for sharing.
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martinkadelux says
🙂
martinkadelux recently posted…Birth Preferences for Your Delivery
Kristin Wheeler (@MamaLuvsBooks) says
Great info! I am glad you’re a Mama that stays educated and active in what is best for your daughter! She is thriving!
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martinkadelux says
Thank you so much, Kristin! When an amazing mama compliments you, makes you feel really good <3
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Janel says
Seizures totally scare me. Thanks for keeping us educated!
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martinkadelux says
They are, indeed, a scary thing!
martinkadelux recently posted…Birth Preferences for Your Delivery
Stefani Tolson says
Thanks for sharing this information. I learned so much just from this post.
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martinkadelux says
Thank you, for taking the time to read it!
martinkadelux recently posted…Birth Preferences for Your Delivery
brett says
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.
martinkadelux says
It really is the best sport- I’m so glad she likes the water!
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Nancy @ Whispered Inspirations says
This is so interesting and informative. Thank-you for sharing your story, she is gorgeous by the way.
martinkadelux says
Thank you, Nancy!
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Educated Observer says
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.
Chelley @ A is for Adelaide says
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.
Chelley @ A is for Adelaide says
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.