Hi everyone! Evan's geneticist is convinced that he has a syndrome that's causing all of his difficulties and delays, but given the scientific knowledge of the present, he can't come up with anything. We've tested every possible thing given his appearance and his symptoms. As a teacher, it really scares me to have him head into the school system next year without a diagnosis, b/c I'm well aware that he will have much more support more easily if we have a name for his condition...and I'm just plain tired of having to fight for every little bit of information and diagnosis over the past 3 3/4 years. Is there anyone else with the misfortune of no diagnosis?

Janette, I know in the past I have mentioned to you about Noah's gentic testing probally a really long time ago. We started at 2 years old and are now at 6 years old still with no diagnosis !! Grrr. The only thing we get is it's something but, we need to wait until he's older to pinpoint it. I asked how old they said around 12 or 13 years old !!! I about died !!! It is very frustrating especially with Noah in school (you remember the nightmare we had last year) He is doing better this year in K but, he is behind in a few of the really important things he needs to know to pass on to 1st grade and he is much older then most of the kids in his K class this year. Noah's genetic Dr. found tons of little things like the mild clubbing in hisa habds and feet, the space between his eyes, the craning neck, the leg problems, the deformities in his feet, the ridge on his skull (he laps over about an 1 to one side and has a very obvious ridge if I don't comb his hair ever so carefully. So I guess to answer your question yes we have no diagnosis yet, but are hopeful we might be closer as the UCLA Dr. seemed to pick up on it right away without us saying anything and recommened a full work up and a pat or pet scan along with other "brain" studies in thier Neuro department.

Sam does not have an official diagnosis yet. although I have diagnosed him whit Cornelia de Lang as I have written recently. We meet with the geneticist who is an expert in this syndrome in 3 weeks, so hopefully whaterver Sam has will have a name soon. Not knowing is the hardest part I think. When I shared what I found with my co-workers this weekend, they all agreed that Sam sure does look like the kids who have been diagnosed with CDLS. I hope you all find some answers soon.

Not knowing is the hardest part indeed. We did not end up with a syndrome or other condition, but it was looking that way with Iain before he was diagnosed with GERD. Waiting for so long to find out was the worst. With Curran we still await some sort of diagnosis for his chronic bowel issues. I do not mean to lump these problems in the same vein as what you are dealing with or looking at, but still I do understand.

It could very well be a wait until Evan is in his teenage years, Janette. I hope not, but with all the testing he has undergone and without anything yet it would seen they are exhausting their diagnositics. Whatever it is, you are making a lot of progress with it as I can tell by your strides in speech, motor development, etc. Regardless of whether you find out what "it" is, you are dealing with it.

I hope that you get your confirmation for Sam. I see how tough this sydrome is to deal with as I read it. Hopefully this geneticist will be of help for you and Sam. Be sure to post the appointment on the calendar, if you have not already.

And, I did not know that Noah was dealing with something undiagnosed either. Do they have any suspicions, Katy?

There is an organization call, NORD, National Organization for Rare Disorders. I wonder if you contacted them, with your list of symptons and what you are dealing with .....maybe they would offer some suggestions. I mean that is what they deal with rare things?

Thanks everyone! It IS hard not knowing! For a while, I even wished that it had been Down's Syndrome, b/c then we would have had support in place locally from birth. {sigh} I had forgotten that Noah is still undiagnosed too, Katy. Does it get any easier being undiagnosed once they settle into school? I'll have to check out NORD, Jean! Thanks!

I wonder about it getting better not being diagnosed and in school. As you know they were tripping over themselves to label Walker as ADHD or Aspergers even though we knew he was not and suffered just from a severe speech and language delay. In our school system you have the RIGHT to request an ILP and we pushed for it last year in SK and they balked about it being too early. We argued that they were labelling him already and it had better be the right label, so we exercised our right and it turned out to be the very best thing we could do. Walker is just speech and language delayed (unknown reason, but ped thinks his prior blue episodes and probable GERD as an infant and toddler is the cause) and they now know how intelligent he tested and are no longer making his life quite so miserable.

For my friend, a diagnosis of Aspergers has proven to be very beneficial as they put all his behaviour down to poor parenting prior. He was not tested until he was about 7, regardless of the fact the parents repeatedly asked for it. Schools seem to want to label kids anyway they feel fit.

Surely with all of Evan's special needs he will be helped on an as needed basis, Janette? Will he have a helper again? He is such a sweet kid and deserves to be treated with respect.

Thanks Leigh! I sincerely hope that he'll get the necessary help in school without a diagnosis. You meant IEP, right? I spoke with another teacher friend this morning (she's in spec. ed. and SK), and she said that IEPs are given out more easily now than they were a few years ago, and that with all of Evan's difficulties, it should be fairly easy to get it done in JK already.

Typing so fast and not proofreading strikes again! I did mean IEP. :oops:

It is your right, Janette to request one. I have a copy of the rights for an IEP here, but it is a big booklet. Our SLP gave it to us when we told her that the school was balking about requesting the IEP in SK. It was great to have it to quote from. Suddenly, we were being accomodated.:-D

If they tell you Evan can not be done, hogwash. The standard is to still wait until grade 4 before testing and that is far too long for most kids. Walker would never have been able to wait that long. In this school year we have had such an improvement due to his SL school.

I hope that you have no troubles with the IEP, Janette. If you do, I can photocopy and send you the IEP information and then you can sic them!:-D

We have been only given 2 different syndrome types for Noah I can not for the life of me remember the names I'll pull his old records and check. The 1st one has to do with a multitude of auto-immune disorders that are feed out by the brain and they kinda pile up on top of each other and then fizz out and then start all over again.
The next one has to do with a small part of the brain that actually controls the gi system. That is what UCLA will be looking into. Noah has always had some "odd" behaviors along with some delays however he also is strangly advanced in other areas like above genius levels. He knows the entire star formations in the sky, what all the different stars are named, all about space travel and especially sattleites. At one time we had him diagnosed with Aspergers (Janette I am sure you remember that) We even were medicationg him for it but, I just never was comfortable with the diagnosis it didn't feel right. Noah started having diagnosis spit out at us when he was just a few weeks old because he used to rub his feet together until they bled. I knew he was hurting but his Dr.s just said his was a neurotic little kid. Noah has also never ever ever had a regular sleep pattern. When he was newborn he was admitted to the hospital several times because he couldn't or wouldn't fall asleep for sometimes 24 hours which in a newborn infant can be dangerous so we have been seeing the gentic's team since he was probally 4 or 5 months old. Now they see him 2 times a year to do measurements and steal blood from him and now we just wait and figure him out ourselves.

That is amazing, Katy. He would not fall asleep?! That would freak me out for sure.

Like Janette, whatever you are dealing with regardless of having no name to call it, you are doing the best that you can with it and are taking it as it comes.

{{{hugs to both}}}

Leigh, Seriously he would stay awakw and just keep moving his feet and rubbing them together no matter what we tried. I would call my mom crying (still had two older kids to tend too as well at that time) and have her come and try to get him asleep and if he wouldn't crash asleep within an hour off to E.R. my mom and I would go. They thoguth it was quite strange as well and would end up watching Noah for at least 2 more hours and then decide it was long enough and start giving him eds to knock him down. My lovely ped at the time would tell me the next day or whenever I complained about it that he was just neurotic but, never had any suggestions.

If they tell you Evan can not be done, hogwash. The standard is to still wait until grade 4 before testing and that is far too long for most kids. Walker would never have been able to wait that long. In this school year we have had such an improvement due to his SL school.

I hope that you have no troubles with the IEP, Janette. If you do, I can photocopy and send you the IEP information and then you can sic them!:-D
I'm pretty sure that we'll have no problems getting the IEP, as it's pretty obvious that Evan needs it and this B. of Ed. is known as having the best spec. ed. around. People come from all over the States, Canada, and even Asia to learn about it. IEPs are generally done by the end of grade one here, so I'm shocked that yours aren't done still grade four. :shock:

(((HUGS))) to all you ladies who have children wihtout a diagnosis. The battle seems so large and I know that is must be so tiring for you...... Hang in there.......

Thanks Sarah!

Oh Janette... (((HUGS))) I don't know how you all keep battling the system to help your children. I guess a mother's love knows no bounds. Janette, did you mention (sorry I've forgotten already) that Evan is going to have more tests done later this year?

I seriously doubt that there will be more tests, but that's always a possibility if scientists find more tests that could solve the enigma. And yes Sarah, you just do what you have to do for your kids.

Janette--I just can't imagine what that must be like. There were many, many moms who brought their kids to our clinic and walked away with ambiguous diagnoses, like "GDD, NOS" or "Unspecified Syndrome". It made it very difficult to get services in school and I can't imagine how difficult it must have been to not know what to do/where to turn for help.

While Evan sounds like a lovely little boy and you love him unconditionally (you are so patient and devoted!), it must break you heart to not have an answer. :cry:

{{{Big Hugs}}} You and Evan are so incredibly lucky to have each other.

Janette,
Alex just turned 2 and he is still undiagnosed. His geneticist is convinced he has a "syndrome" but he tells me, based on Alex's symptoms, we will probably never find the answer. I completely agree with you about your Down Syndrome example. I often wish Alex had something like that because at least we would know what we are dealing with and I would be able to find some parents in similar situations. It is very isolating thinking you are the only mom in the world with this situation.

I definately hold out hope that Alex will get a diagnosis some day. In the meantime, I wait and research and wait some more.

Janette,
I forgot to say that being a speech therapist and working in the schools and on diagnostic teams, I sometimes think no diagnosis puts the child at an advantage because they don't make assumptions based on a diagnosis, they look at the child as an individual and set goals based on that. I think sometimes if see that the child has a "syndrome" they automatically assume the worst.

Janette,
I've thought of something else! There is an organization called SWAN (Syndromes Without a Name) that I found on the internet. It's based out of the UK but they send newsletters every once in a while on personal stories etc. That's the closest I have ever come to finding a group where we best belong.

Thanks for your replies, Brittany! The teacher part of me has seen how much more support is available with a diagnosis and how much more quickly it's available. You make a good point about teachers looking at the whole child and not the worst case senario of that diagnosis though. I'll have to google SWAN. Thanks!

Can I pipe in about the IEPs? I'm a bit shocked that some of you have had such a difficult time getting your kids assessed and an IEP in place. In CA all you have to do is request full assessment in writing and we HAVE to test. Then we go from there. As a kindergarten teacher, I agree about the "label" thing. Without a label we can look at what's actually happening in class and provide services based on needs, rather than on diagnosis. Sometimes (especially with little ones) this is the best thing.

Personally I love parents who avail themselves to as many interventions as they can. I want my kids to be successful and to receive as many services as they possibly can. I also am pleased when moms and dads share info, for example, behavior plans which they've had success with in preschool, or a doctor's suggestions for classroom environment, etc.

Money is definitely an issue with the school district I work for, so we want to make sure we're not "over-using" our resources, however, I do think they genuinely want all the kids to be successful and have a good educational experience.

Sorry if I rambled off topic too much!

I'm having some issues with posting tonight! Sorry! Seem to be hitting all the wrong buttons!

Hi,

For those Moms w/out a diagnosis:

You have probably heard of this but I did not hear anyone mention it so I thought I would just put it out there. There is something called a FISH probe which is viewing DNA at the highest resolution (at the molecular level). Have your genetic doctors used this method to examine your childrens DNA? The test is about ten years old I believe. There is an amnio, then a high powered resolution karyotype and then a FISH probe. Have you all heard of this? Im sure you have.

I have learned so much from this site. I just saw a chance to give info and was hoping to give back the strength and friendship this site has given me even if all of you have never met me. I read your conversations and learn that 1. I am not crazy 2. There are people who understand and struggle and do not sleep (just like me:().

Denise

That is so great to hear from you Denise! I lurked for a bit before I began posting just to make sure that I was on the right track since my boys were not diagnosed at that point. I found in short order many who were going through what we were at the time and spectacular support to help calm my then hysteria over what was happening.

Contribution comes in many forms and I for one thank you for posting this ( because I am a bit of a geek and appreciate knowing things like this! lol). Mainly I want to thank you for being part of IRD and wish to say I hope you post more often now. Many of us do not get a lot of sleep and rest assured you can find people in the chat area quite a bit. Feel free to pm members or just hop into a chat to say "hi". Also, if you are having a rough day or a great day please do not hesitate to start a thread. We would all love to meet you.:wink:

Denise,
You are definately not alone. I completely understand about the going crazy part! Alex has had so much testing and possible "syndrome" diagnoses that I have grown accustomed to living on the verge of a panic attack.

Thanks for the info. There is also a new test out there called a micro array test that checks for a whole list of known syndromes and chromosome deletions. Alex has had the karyotyping, the fish and the micro array done. All normal. They are also thinking about now testing him for Costello Syndrome. That's a separate test were they look for a specific gene mutation. There are so many things out there, it's mind boggling.

Denise,
There is also a new test out there called a micro array test that checks for a whole list of known syndromes and chromosome deletions. Alex has had the karyotyping, the fish and the micro array done. All normal.

I know that they are going to test Zoee with these tests when the government here approves the funding for them so we are going to be on a waiting list for a year for them.

We just finished with the micro array testing----no answers for us--Sam is still stumping the medical community! Good Luck to those of you going thru this testing.

Denise,

Are you talking about the test that has a needle go right into the brain to withdraw fluid for testing?

The fish, micro array and general karyotyping are all done through a blood draw. Alex did have one that looks for neurotransmitter disorders and for that one they took some spinal fluid from his spine but not from the brain.

Brittany, Sam has had all the same tests your son has had---what kind of problems is he having other than the reflux ??????

Hi All,

Janette, the FISH probe Ive heard of examines blood samples as Brittany said. Thankyou Leigh and Janette (you welcomed me when I first signed on) for the warm welcome. May I ask Leigh when your son started eating and when he stopped ? My daughter is not currently eating (she was able to suck and went into "night feeding" only and then stopped completetly at about 5 1/2 months. ) Sometimes I worry she will never eat food. She is going in for the g tube operative surgery Monday after being ng fed for 4 1/2 months. She will sometimes take about ten spoonfuls of bananas and has no swallowing, choking or gagging issues. However, she refuses to eat anything.

Thankyou,
Denise

Good luck with the surgery on Monday, Denise! Evan refused food for a long time too, but being ignorant of any other options, we force fed him. The FISH thing you've mentioned sounds like it's the telemine-FISH thing that Evan had done through blood samples. I'm still avoiding any spinal taps or having fluid taken from around the brain, as they're just too invasive for my (personal) liking and I'm too afraid of human error.

Amanda,
Alex's main diagnosis is hypotonia with severe vomiting of unknown origin. He has moderate hypotonia, a heart defect, a uretheral stricture (corrected with surgery) and some other minor differences such as facial and nail differences. Your little guy is just adorable!