Emkana - message for you

[Alethia]

Emkana, does your little boy have achon? He's a real cutie pie!! My little boy has a form of short-limb dwarfism too called Ellis-van Creveld. Are there many mums on here with "little" children?

I just read what I wrote and it could be misread. Just to clarify, the type of dwarfism is called Ellis-van Creveld. That's not what my son is called, LOL!!

Hi Alethia - I expect Em will be around at some point. How's things with you? Just checked out A on your site ( it's still in my favourites).

We've spoken before ( in several places ) dd had the epiphysiodesis surgery on her short leg a couple of years back. You may remember? Good to read that A is up and about. Is he still on the O2 at home and are you managing to stay free of the hospital?

Hi Saggar, nice to "meet" you again! I remember E getting her epiphysiodesis. Has it been successful? A is still ventilated and on O2 when sleeping. He had two good episodes where he was off the vent and oxygen most of the day - one lasted 3 weeks and the other 4, but then he gets a chest infection and we're back to O2 and vent full time for about 2 months, then another month or two weaning off the oxygen and then vent weaning. It can get a little tired.

He's otherwise v. happy. He's walking, trotting (I wouldn't call it running, though he tries), going to nursery (also starting afternoon place at council-run nursery attached to future primary school), talking (too much!), and potty training, though this is very slow and I'm not sure he's ready yet.

We're going to the RGA convention in October. Do you go to these things? If so, it would be lovely to meet up. I'm just going in the vain hope that I know SOMEONE there, if not, I'll just feel like a total wally as I introduce myself to anyone who doesn't run away screaming! LOL!

We went to a couple of bashes up here and had a great time, but one of the parent coordinators got a bit sloshed and admitted to me that some of the other parents were too nervous to approach me because of all A's medical equipment. Ach, it's all water off a duck's back. I had a good enough time with the ones who overcame their fear and did talk to me! I found it quite amusing that a lot of the people we spoke to just assumed that A has achon because of his short arms and legs, despite the fact that he really doesn't look achondroplastic.

I also had a dad telling me that his son had a really rare form of dwarfism, so I said, "Is that him over there? Has he got diastrophic dysplasia?" and his eyes nearly fell out of his head! LOL! I didn't say what A has got. I mean really, you can't play the "who's got the rarest" thing at a little people convention. There'll be some people who are literally unique there!

Anyway, better go before you think, "Wow! That woman is a total b*h!" I'm not really, I just get a bit cheesed with certain things.

lol at people running away from you screaming, like you're some random mad-woman!!

dd is pretty much level - - she had some Converse in the summer as a celebration for not needing raises. Her surgeon does the surgery by surrounding the growth plate with pins (look more like Frankenstein bolts on the x-ray). These will be coming out next month and I'm a tad nervous about the GA as she's not been 100% cardiac-wise. Ho hum.

Sounds like A is coming along just fine. Would be good to be rid of the vent though wouldn't it? One of the children on Heartline who had a long-term trachy got rid of it this year. It'll happen for him.

How's your dd?

Bumping for Emkana

I've just seen you Em

Hello! Very nice to "meet" you! I must admit I've come across you before, I have seen your website (recommended by saggars, {waves}), and I have seen you on the Jeune's syndrome board.

My son doesn't have achon (thanks for the compliments by the way! I have seen pictures of your A, he's lovely as well!). Before my ds was born there were some doctors who thought he might have Jeune's syndrome, but that has been ruled out now. At the moment they are thinking possibly hypochondroplasia? But we just don't know. We will see a skeletaly dysplasia specialist at the end of November.

My ds has lots of chest problems, possibly due to the fact that he has a small ribcage, and he's a bit behind with his pysical development, but otherwise things are very well.

Look forward to seeing you around!

There aren't many here with children with dwarfism btw, I've come across one other poster so far I think.

I had been planning to go to the convention, but unfortunately we'll be away then. Maybe another time? I would love to go one day, esp. when ds gets older, to give him a chance to meet other children like him.

Hi Saggar, Hi Em!

Saggar - The Converses sound like a great way to celebrate being level for the first time in ages. I didn't realise they needed so much metal work for the op though. I was under the misguided impression that they just kind of burnt the growth plate out with a sort of soldering iron. Is E's op reversible then? SOrry about the cardiac stuff. I can sympathise. A had a cardio appt yesterday - his pulmonary BP's been wavering upwards again so they're going to keep a closer eye on it - echos every 6 months rather than 12. If the general trend is up, then cardiac cath time with an HDU stay for up ot 48 hours after. Bummer.

As I recall, E's cardiac problems are more worrying than A's. I hope she's OK.

Oh, BTW, was it C on Heartline who finally got rid of his trach? If so, I must get in touch with his mum again to congratulate her. It's been a long time coming.

Em - Which specialist are you going to see? I only know of Michael Wright, but he's more a geneticist with a special interest in dwarfism. I hope they can give you some answers. I'm glad for you that he doesn't have Jeune's though - the kidney and lung problems can be horrendous.

We've got a meeting with A's respiratory consultant at the end of this month. I've emailed him asking him to discuss the lateral thoracic expansion op (not VEPTR) with the cardiothoracic surgeon who originally did A's heart ops prior to our appt. I really want to know if they'll go ahead with it because he's showing no signs of coming off the vent soon. Put it this way, A's chest is so narrow, I can nearly span my hands round it.

It's a shame you won't be able to make it to the convention, but hopefully another year! I'm hoping it will become easier to travel about over the next couple of years, so we're bound to meet up eventually. I'll stand the first round of drinks!

Cheerio!!
XXXX

Hello Alethia
Only just noticed this! My DD is 'little' too - no exact diagnosis but presumed skeletal dysplasia, one which has affected growth and development.

Hi Alethia - yes usually just some drilling of the growth plate but this method does mean that he can prevent overgrowth. If the pins are removed before the plate closes it can theorectically continue to grow.

Yes - right child on HL Pulmonary pressures the main worry here too at the moment but probably not able to stretch via cath. It's a wait and see and thankfully lots of waiting!

Hope you get some answers on the pulmonary stuff - thoracic expansion sounds complex.

Hi there,

I wasn't quite correct in what I wrote there, we are going to go to a skeletal dysplasia clinic at Bristol Children's Hospital, but we're going to see a geneticist with an interest in skeletal dysplasias there, too. We'll have to see what she can tell us.

I have, however, already been in touch with a wide variety of people regarding a diagnosis for my ds, S. I sent his x-rays (taken just after birth) to the Columbus Children's Hospital, to see whether they could rule out Jeune's (here, nobody wanted to say for definite.) They did rule it out and they also said that the x-rays showed "no sign of a bony dysplasia", which threw me a bit. He does def. have one though I think, because his arms and legs are short and his growth is becoming slower and slower (15 months old, still in 6 to 9 month trousers).
Being that I'm German, I also sent the x-rays to a German expert in the field, but again he said the pictures were inconclusive and we'd have to wait. So that's what we're doing...

Good luck with the thoracic expansion, is the type that you're going for the one they do at Columbus?

I would love to meet you one day, so here's hoping!

Em, have you sent x-rays/details to the Greenberg Skeletal Dysplasia centre at John Hopkins in the USA (home of OMIM - online Mendelian Inheritance in Man)? I think they're meant to be the best in the world for diagnosing skeletal dysplasias. Here's the URL:

www.hopkinsmedicine.org/geneticmedicine/CR/SKD/index.html

You've probably seen/heard of them before since you've been trawling the Internet for whatever info you can find, but that's just my offering in case it helps! I've not had any dealings with them other than to send Professor Victor McKusick a "groupie" letter because he's just done some awesome things into all genetics, AND a lot of stuff into EvC. He didn't reply, but I may badger him again in future years. I'm such a saddo! LOL!

Looking at your adorable little man (no pun intended!) he definitely has a form of short-limb dwarfism. Like A, he can't touch the ground with his hands when he's sitting on his bum, and his legs are definitely wee. A is 3 and he's wearing 18-24 month trousers, as long as you roll up the bottoms. His best fitting trousers are the 3/4 length/Bermuda shorts-style that has been popular this summer. I bought LOADS of them! They look like normal trousers on him and I don't have to take them up. The other problem he has, is that his pelvis is tiny too so I have to fold over the tops of his trousers because the waist is way too high and doesn't sit right. I also have to cinch it in as much as poss. Do you think you'll have that prob with your DS?

PLease email me via my website if you like. I'd love to swap pics and notes. I sent a pic of A to an online mate of mine recently and she said that her eyes nearly fell out of her head because she'd never seen another little boy who looked so physically similar to her DS before!
__

Saggar - That's so cool that the epiphysiodesis is reversible!! I wonder if he could have got away with 4 8-plates, rather than using so much metalwork. I heard about the 8-plate when we last saw A's ortho consultant. She said he'd be a good candidate for it if he develops the typical EvC valgus knees. It looks really cool - as far as ortho procedures go.

The op we want for A is simple from an orthopaedic point of view, but there'll need to be some rejigging of muscles/blood vessels and nerves to make it good. In the US (Columbus - yes Em, that's the one!) the op is done by cardiothoracic surgeons in conjunction with plastic surgeons, whom I presume do the muscle/periosteal and vessel/nerve stuff. I probably sound a bit harsh wanting invasive/risky surgery for A, but he can grow new lung tissue (new alveoli, more bronchioles etc) until he is 8 years old, so the sooner he gets space to do that, the better! After the age of 8, the lungs are only capable of maintaining themselves, so if the op was done close to then, all they'd do is inflate to fill the space.

I feel we've been really patient re the vent. I haven't pushed the docs to tell me when he's getting off it because I know they can't answer that, but things aren't getting any better, and this offers A a chance of getting off the vent, so why the hell not, hm? I can only imagine how fabulous life will be with a child who's not anchored to a blimmin machine!!!

Hi Reiver!

Would love to know more about you and your DD. How old is she? Have you had any possible diagnoses yet? It can be very hard to diagnose skeletal dysplasias since there are so many, and some are unique. What are her "problems"? What other groups do you go to for support?

Sorry, so many questions. I am a physio IRL, so I am always curious about the medical side of things, but I am also a mum/nosy parker! , so I am curious about the day to day stuff too!

Alethia, we love cropped trousers too!
DD is 8 but wearing clothes for age 4/5 years, to give you an idea of size. She's short in stature but makes up for it in personality.
GDD, hypermobility of joints & low muscle tone have been the greatest problems with hip stability a more recent issue.
Apart from MN, I find a local support group works best for me, particularly now she's older.

Hi Reiver,

Does your DD have an exercise regime from her physio? Hypermobility is hard to deal with since it's hard work to keep the muscles strong around the joints. I hope they can get a handle on the hip stability.

One of the parents I met at an RGA do up here, has a DD with achon (some people with achon have probs with hypermobility) AND Ehlers-Danloss syndrome! What are the odds against that combo?? As you can imagine, it's not a great combo for joint stability.

YEah, let's hear it for cropped trousers!! Keep 'em coming all you fashion icons! Now that's really magnanimous of me, because normal trousers look like cropped ones on me, and I hate 'em!

Alethia, I have thought about sending the x-rays to the Greenberg Centre, but will wait and see first now what happens in November when we see people here.

In RL ds's legs don't look quite as short btw, that picture makes him look particularly disproportianate... not that it matters anyway.

I will get in touch, def.!

btw, I think I've seen you post on the yahoo group? (parents of LP) If you go into the photo albums on there you can see my ds, he's the first album beginning with S!

Emkana,did you watch "Born to be Different" last night? Good to see an update on Hamish again.
Pleased to "meet" you Alethia. Yes, we have a programme in place with good physio input both at school and at home. She's lucky to have regular hydro plus weekly riding (RDA) too which all helps. Had a quick look at your Ellis-van-Creveld website yesterday - an amazing resource. Only read a fraction but will return when time permits as it's so informative.

Em
OMG, I just LOVE the picture of S in the Sweet S one! He is sooo cute and that just captures the look of a lovely-natured child. How fab! So yes, you have seen me on the POLP lists, but not often. I've had too many run ins with the 'lovely' V. Settled now, but couldn't be bothered having to mind my P's and Q's so much, so rarely post now.

Reiver,
I did watch the program last night. It was good to see Hamish again, but I think it just highlighted how small a disability dwarfism can be, as long as there are no associated medical problems. He was an ordinary little boy, just shorter. I noticed that the documentary didn't spend much time on him and his family because there simply wasn't much to see, no heart strings to be tugged at - thank goodness!!

Thanks very much for the compliments about the website. I did spend a lot of time on it when A was in hospital, but not so much now. I update his section occasionally and add more to sections as I come across another problem he or one of the other kids with EvC has. I keep meaning to add a physiotherapy section, since that is my area of professional expertise, but I haven't got round to that yet.