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!