needing some answers

My son is almost 13 months old.  A week before his 1st birthday he started to sit.  He is not great at it but is getting a little better.  He is very hypermobile in all joints but his elows.  He can not crawl or pull himself up.  He just started scooting a little but gets very tired very fast.  He was diagnosed with SVT (superventricular Tachycardia) at 3 weeks old and has been on a bata blocker since.  We have seen a neurologist and a genetisis but they are not sure. Please help or any ideas?!!!!!

[SeriousSam]

I would get this one play item that is essentially an indoor outdoor fence for young kids and let him crawl in it indoors and out doors, supervise him from outside of it a little bit put a couple of his favorite toys in it and a couple outside of it where he can't reach them,  Do not carry him more than the very minimum needed.

[mammo]

I would take him to a good children's hospital like Cincinnati Children's where they are on the cutting edge of everything to do with children.  People travel from all over to have their children diagnosed and treated there.  They have a Ronald McDonald's House for you to stay in to be with your child.  Something isn't right, and you need answers, they can give them to you.  If you google "Cincinnati Childrens Hospital" you can get the contact info to make an appt.  It would be well worth the trip.  Take care...

[Dragon1973]

Hi there redklatt,
I am curious, what have the geneticists said?  Also, I assume with a SVT (my son has an ASD) you see a paediatric cardiologist.  What were that specialists thoughts?  I know you said they aren't sure but they must have some thing in mind?  I know that hyper-mobility in joints or Hypotonia with muscle tone happens with some genetic abnormalities for example Down syndrome (and heart defects also are a high commonality).  I wonder, might they have tested for Mosaic Down syndrome, which only happens around 3% of all Down syndrome cases, if you aren't aware of this - it is when not all chromosomes are affected by a third copy of the 21st chromosome which makes Ds what it is.  In Mosaic Ds, many children go undiagnosed for years because they do not exhibit the usual characteristics of Ds, and many times look and behave typical.  But because they do support some of the 3 copies of the 21st chromosome, they may be affected by some of the other health concerns.  I do imagine that if you are having genetic testing, they might have already looked into this.  But if they didn't, because they didn't suspect this kind of Ds, I would ask about it.  
I wish I had more ideas to offer, but I too am at a loss.
I hope that you do find the answers, I know how difficult from personal experience it is not to know what the real diagnosis is, when you know there is something going on.  Keep with it mom, persevere - you will eventually get answers, you have to not give up.  I hope that your son feels well and stays healthy.
Good luck, and if you have any other questions that I can help you with, please feel free to message me directly.

Sincerely,
Sandi (Dragon1973)
MedHelp Down syndrome Community Leader
& Ds Group Forum Founder/Moderator

[redklatt]

Yes we do see a peds cardiologist and for a long time our family Dr. blamed how tired he was on the medicine that he is on.  Finally our cardiologist told him that there is something wrong but not with his heart that is causing the problem.  So we saw a peds neurologist and he referred us to a peds genetisis.  They did a whole bunch of testing butI am not sure if they tested for Ds.  They are focusing on a connective tissue disorder but they are not sure which one.  They have ruled out marfan's and a couple marfan like syndromes.  They have not done a brain MRI yet but they are talking about it, but want to wait to see how he does in the next couple of months.  They also have talked about a muscle byopsy but also want to wait a little bit.  So right now we are at this stand still and it is driving me crazy because I just want some answers!  I am a researcher so I am trying to find anything on my own that can give me some direction.  I am trying to find someone with simular problems that may be able to help me.  I have not heard of that form of down syndrome before but I will look up some info on it.  Thank you for some sort of direction.

any other ideas let me know!!!
Jamie(redklatt)

[Dragon1973]

Hi Jamie,
You are most welcome.  I will keep on my research for you too, hopefully we can brainstorm some other ideas as well.  I will ask my friend who is a Early Intervention Specialist, who deals with Genetics on a daily basis... maybe she might have some ideas also.  Like I mentioned, I know how it is to feel lost without answers, so I will try my best to get some other ideas.
Sometimes these doctors have to remember to think "outside" the box.... Common problems aren't always the reason why our children go through what they do.  I hope that they continue on looking and testing so that your son gets relief from his symptoms no matter what the length,

Keep in touch no matter what happens, so that I can remind my self to ask these questions to my other resources for you!

Sandi (Dragon1973)
MedHelp Down syndrome Community Leader
& Ds Group Forum Founder/Moderator

[redklatt]

Sandi-
Thank you!  That would be awsome if you could talk to your friend.  It is always better to get more heads involved and see if someone sees something that someone else may not.  It is hard to watch him want to do things like walk and crawl but he is not able to do so.  He gets very upset!

Thank you!
Jamie

[Dragon1973]

Hi Jamie!

I spoke to my girlfriend yesterday, and she said she is going to look into some things for you.  She asked me to ask you if you have ever noticed any other "Facial" features that may resemble Ds in your son.  I figured that if that were so, you probably would have been told about the random Ds by now.  But my thought still was on the "Mosaic Ds", which often doesn't exhibit usual or typical characteristics.  She did agree with me on that idea.  She did say that there are thousands of genetic abnormalities, so often times regular testing may not identify anything with your son unless they specifically are testing for a certain chromosomal problem.  And that can be difficult like searching for a needle in a haystack.  As you probably are well feeling by now.
She did say that beta blockers can cause the fatigue, as she explained to me that it is like a paralysing agent, so it truly does and can affect him.
But, she is interested in helping us to help you.  So, with that she is looking and asking others.
I will keep you posted when I hear something from her, in the meantime, keep looking up genetics in your searches, and maybe something might pop out to help you suggest things to the geneticists.
I know this isn't the best help right now, but I will still be working on it!!
Sandi (Dragon1973)
MedHelp Down syndrome Community Leader
Genetics Community Leader & Ds Group Forum Founder/Moderator

[martikadragoon]

Just posting to mention that Sandi is right about some things needing specific testing in order to find out about them. My genetic skin disorder requires a specific test on the 12th chromosome of the k10 gene  to check for a mutation there.    Those types of tests also can take a few months to get results on since they're SO specific.

[redklatt]

Hey sandi-
The only physical features that the genetisis noticed was that he had low set ears and almost no cartilage in them.  I just just got a letter from them the other day that stated the next two things that they were going to look at was Ulrich congenital muscular Dystrophy or Ehlers Danlos.  But with the ED there is not a genetic test for it.  For the UCMD  they have to do the muscle biopsy.  So they want to wait to see how he progresses in the next couple months.  But as for me I am not good at waiting so I have been doing lots of research and trying to get ideas from other people.  They peds Cardiologist swears that the beta blocker doesn't cause his fatigue.  But I am more willng to agree with your friend, but the cardiologist won't take him off yet to find out if that is what it is or not. I just hate the wait!!!

[martikadragoon]

Good LUCK!

[Dragon1973]

The low set ears are a characteristic of Down syndrome, so now it really makes me wonder if your son has the mosaic form of it?!
There are other things that you can look for in addition to low set ears:  
Here are some - (but remember, if he has Mosasism you probably wont see all or even many.)
Low set/floppy ears (lack of cartilage)
Up slanting corners of eyes
Skin folds in corners of eyes (Epicanthal folds)
Hypotonia (Low muscle tone/floppiness)
Small/flattened nose/lack of nasal bridge or bones
Palmer crease/single palm crease/transverse crease (on hand or foot print)
Sandal toe (Gap between first and second toes)
Shorter long bones (ie: Femur or Humerous)
Smaller sized head circumference at birth
Skin folds/thick skin at the nape (back) of the neck
Higher/longer forehead
Clinodactyly of the 5th finger (Curved inward pinkie fingers)
Smaller mouth (making tongue seem larger for mouth)
Jagged or pointy baby teeth (and random order or different first appearing teeth)
Cleft pallet at birth (sometimes rare, but known to happen)
Lower/smaller roof of mouth
Sparse or thin hair (and longer lasting bald spots)
Heart defects at birth
Hypospadias (Misplaced penis opening - the opening is on the underside of the head of the penis, near where it joins the shaft, but it can be anywhere along the underside of the shaft or even at the root of the penis near the testicles)

And quite frankly the list goes on...
But these are some of the more common and sometimes less common characteristics - I put some that are less common because if your son has them, they may be less obvious and might be why a diagnosis has been absent.

So do you think any of these fit your son?  Even at the smallest consideration, or the minor evidence of these could give them a reason to test for Mosaic Ds.

I hope that we can come up with something!  I hate that you have to wait also!
I am still searching other ideas also...

Sincerely,
Sandi (Dragon1973)
MedHelp Genetics Community Leader;
Down syndrome Community Leader & Ds Group Forum Founder/Moderator

[cead]

Redklatt,

has your geneticist ordered FISH and cgh array studies?  Did you get results back from those?

RE: his SVT:
Do you do 24 hour holter monitors?  Do you see a pediatric cardiologist?
If so, has your doctor ruled out Wolff-parkinson-White Syndrome (WPW).  Or has he ever even mentioned WPW to you?  I would be very surprised if he has never even mentioned it to you. If not, I would definitely have that checked and ruled out and get an ablation if he needs one.

He is very delayed.  I would look into genetic possibilities.  Do you live in a rural community or do you have a major children's diagnostic/teaching Hospital near you like Tuft's for example (just off the top of my head--there are many others)?  Or one of the other good major University teaching hospitals?   That is where you will find your answer.  

Until you have a definitive diagnosis, and possibly even after that, depending on what it is, you will have to do just as you are doing now and treat the symptoms as they occur.  Just be sure to get him set up with a good team of pediatric specialists.  And into an early intervention program.

Also,
NIH now has a program whereby your doctor can make a referral for in depth diagnostic assessments of children who are hard to diagnose.

Just curious, what studies have you had done?  You did not say.

good luck

Cead