4 years old and STILL no diagnosis, is ANYONE in this boat with me?

Desiree - posted on 02/08/2011 ( 69 moms have responded )

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The latest test just came back negative for Pitt-Hopkins Syndrome (something her docs were sure she had this time)! Aubrey, our beautiful little angel has been tested for everyhting under the moon for her developmental issues (moderate to severe MR, no speech, low tone, microenchepaly and some minor visual issues). I'm not sure how to feel each time a test comes back negative. Part of me thinks, "My God, will I ever know how this happened or the chance of it happening again?" And the other part thinks, "Thank God, once again they can't set limits for what she will accomplish in life". I just wanted to see if anyone out there has a child with the same symptoms and can tell me what their child has accomplished...things I might be able to look forward to in the future with Aubrey.

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Barbara - posted on 02/15/2011

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With an eight year old daughter without a conclusive diagnosis, I understand your feelings. However, for me I take great comfort in the fact that without a prognosis Jess has no ceiling to her development. The skies the limit..... Good luck and peace to your hearts.

Angela - posted on 02/16/2011

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Hi Desiree - yes, I'm in the exact same boat that you're in. My son is close to 7 and it was about the age of 4 that I had the last genetic test they could think of for him. I know exactly how you fee, "is there anybody out there like him so that I have somebody to compare notes with?" That was my biggest thing, just having somebody that would understand! My son is borderline MR (which was tested 2 1/2 years ago, needing to be tested again this summer) he was no speech, just a few words that he would repeat (this was age 4 also) he had low abdominal support which we corrected by this age, not sure what microenchepaly is and at this stage we had seen a dr once and was told he showed signs of glaucoma (at age 3) with the next appt back to normal. WHY? who knows.
Anyway, I will let you know what has happened since that time frame. We enrolled him in a special pre-school. Nothing major happened, no speech, wouldn't talk when spoken to, etc. One day, the lady I had for OT mentioned something called cranial sacro - I told her to lets try it and see what happens, it's not going to hurt him, it's like chiropractic. After the first session (about an hour) he was much more 'chatty' (for him) within the next couple of days. My husband and I would look at each other when something would pop out, in shock! I didn't realize it until about 2 months later at his EIP meeting that he was telling his teachers "hi" in the hallway - something he had never done previously. They were all shocked and excited in the change. He was only grown since that day. We have weekly visits from this lady and she 'opens' him up.

That next fall, he started kindergarten at our 'normal' school. They were all very hesitant to take this on, they've never had a child this low on the toem pole (my phrasing, don't like MR :D) but I forced the issue, wanting him to try, and if it didn't work out after the school year, then we'd try something else. He blossomed like nobody could imagine. The teachers have been awesome in making sure thaqt he was accepted by letting him Hi-5 the other kids in school. What I saw was the other kids thinking it was a cool thing to do to say hi to Brody or to Hi-5 him.
He's in 1st grade now, and he's still waaaaaay ehind, but he's accepted by his peers. With a child that is different, I think that's the one thing that we as parents are fearful of, the acceptance of our children. Actually, I think that goes for any parent! At any rate, I wanted to let you know that I've given up looking for a box to put him in. I was told my another mom one time, " he may have what's called "brody Syndrome" his very own syndrome that only he will have" it took awhile, probably after that last test that came back negative, for me to wrap myself around that. I make sure he's treated similar to his twin, and help him when he needs it and discipline him as he needs that as well. I know that God gave this sweet boy to me for some reason, I just have to raise him the best way that I can and get whatever I can for him.
I hope this gets you past your frustration. I can honestly say that the day that I put him in preschool, I was hopeful, but not expecting the great things that he's accomplished. You're welcome to call me any time - 319-464-5198

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William - posted on 02/14/2014

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Avery is my Aubrey. 3 yrs 2 months. Every test negative. Did you ever get s diagnosis?

Julie - posted on 02/14/2014

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For Desiree....My daughter is 4 and has no speech at all. She has been tested for everything under the sun. I am extremely frustrated because what I find is that for everything that she is tested she meets some of the criteria but not all. She is incredibly smart and understands everything but for service purposes she has been declared intellectually challenged...whatever..like you said it is a blanket diagnosis. She has an appointment on Tuesday to be tested for Autism. Again, however, she has no speech, and stimming behaviors, yet for no other reason would fall under this category. She has been a mystery for even her teachers.. Just when they think she cant do something she does it. Therapists have called her intriguing. She does have what is called hypoplasia of the corpus callosum but it is not considered a medical diagnosis because there is no way of knowing whether or not it is the reason for the delays and there will never be any way of knowing which is extremely frustrating because it can mask symptoms of autism. She was also once considered hypotonic which they now have removed. She is currently receiving speech, pt, occupational, and adaptive pe. She attends a special needs preschool speech based class. Diagnosis or not she has no limits,, she is simply unique and amazing in every way..she saves me everyday...We are our childrens biggest advocates and I will never stop fighting for her. Diagnosis is only for the purpose of her receiving the correct services but it wont change who she is it will not define her.

Brittanie - posted on 02/01/2013

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I know this is an older post, but I have a 3 almost 4 year old daughter with a lot of the same problems. She has seizures, non verbal, moderat to severe MR, abnormal tone, toe walks with an ataxic gait, mild to moderate hearing loss. And other symptoms. My daughter has also been tested for Retts/angelmans/Pitt Hopkins/mowat Wilson/cdkl5/fish/ finally whole exome testing.....with no answers. I often have the same feelings wondering how she will be when she's older will she ever learn to speak. It's hard being. Parent of a special needs child and it makes it a little harder when you don't known why your child is the way your child is. Hope we get answers soon! Our girls sound very simualr.

Jessica - posted on 04/17/2012

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Hang in there, even though I don't know all the story with your daughter. You will get an answer at some point. My son was 6 when first diagnosed with ADHD, and Anxiety. They couldn't tell me anything that I wanted to know. Why he did things that he did, where it might have come from. It is a battle everyday. But don't let them tell you what she will or can accomplish. Kaden is now 9 and was just diagnosed with Asperger's Syndrome on April 14 of this year. All that fighting and knowing that I seen something with him. Stand strong and stand behind her. I hope that you get some answers soon though. I know how hard and tough it can be not knowing.

Carole - posted on 04/17/2012

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My child is a cererbal palsychild go to Shinners Hostipal and if you do not have the insurance it will not cost you .Call 864-271-3444and they can give you number to call to set up and apointment to have your child evaluted they are real nice .I took my child there because I was told she had a mild case of CP but she just keep getting worse and they are not suppose to get worse she has full body no mild case

Margaret - posted on 04/13/2012

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The fact that you are sharing all of this is the best step forward! My son is 10, and was diagnosed with FG syndrome @ about 14months. I got it in a letter from the hospital that I was refusing to return to because of NO answers! Oh yeah, I tell them I'm not coming back to let them continue traumatizing my child and they follow that up with an "Oh by the way" type letter. So impersonal, glad I never went back...but looked up FG and got really scared and mad that THIS is how they finally choose to share with me, their results/information! There is no test, other than by someone familiar with the symptoms/syndrome itself. One of the docs happened to work with the founder of FG 25 yrs ago and thats how she came up with her "idea"(not diagnosis) So then went my quest! I was lucky in one respect for being in the state of WI and utilizing the UW of WI...it has a really wonderful hospital system. And had one of their docs who also worked along side of Dr. Opitz(founder of fg) I know so little about your situation and would love to help in any way I can! I often help people in my community take steps towards finding help with their children, so if you would like to have some faith in a stranger, I'd love to help!

I'm not saying your child has fg, just saying that sometimes there isn't a typical test for all syndrome or anomolies. But it was hard to find help for my child at the time becuz no one knew about or had a FG number in their computer to help us. We had to put him as having other syndromes just to get the help he needed. so crazy! 715-884-2033

Kimberly - posted on 04/11/2012

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i feel ur pain and confusment me baby girl is now 7 n the drs still cant tell anything bt that she has a unknown syndrom she has been being tested sience she was 6 months old

Joanne - posted on 04/11/2012

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I KNOW what you are feeling. My youngest is 4 1/2 and still Docs can't tell us what is wrong with him. His neurologist and neurosurgeons have sent his info all over the world looking for any input on what is wrong with him. We have gone thru some of the top doc's in the US and they cannot tell us what is wrong. They tell us he is 1 in 3 billion. Not a number we really want to be in. Ry's symptoms are very different, but I understand the desire to have a name to put on what is wrong and be able to have an idea of what the outcome will be. Ry has extra-axial hydrocephalus which isn't supposed to cause issues but his did and he is shunted after 3 months if spinal taps, he has low muscle tone, wandering eyes, verbal and oral apraxia, tires out easily, lactose intolerence, reflux, but is near genius level cognatively. So don't give up, just love her for who she is and don't let anybody tell you what she will be or what she can accomplish!!! Take every moment and love it. We were told our son wouldn't see 4 and he is doing so well right now, Doc's don't know it all, each child is so different.

Desiree - posted on 04/11/2012

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i thnk you responded on the wrong blog. My daughter doesn't have what you have, she is undigagnosed and that's what this blog was about. Good luck to you though I'm glad your parents were able to get you diagnosed and get you the right medication. Not all babies will be fine though sadly...my daughter is one of them. I haven't given hope but i have excepted reality:)

Jeylis - posted on 04/10/2012

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Hi, first of all...I want to tell all those moms with babies who were born with Congenital Hypothyroidism that there is always light at the end of the tunnel...never give up hope! My name is Jeylis (Haylee), I was born in La Habana, Cuba in 1990 and I was born with Congenital Hypothyroidism...However, nobody knew what I had until I turned 8 months old. I AM A MIRACLE CHILD because my thyroid glands are basically DEATH...I was born with no thyroid hormone at all...my thyroid glands do not work at all...0% working...My parents were devastated because they knew I had serious health issues...and for the worse, they did not know what those were...I was born with high head circumference, my tongue was very big and protruded, my hands and feet were really cold, and I had a hernia in my bellybutton...nobody knew what I had...my parents went from doctors to doctors...even medical students analyzed me and still...no answer..it wasn't until they ran into a doctor who he immediately knew what I had...he told the other doctors that I HAD CONGENITAL HYPOTHYROIDISM...and he called and contacted Endocrinologist DIANA CHON...who became my doctor and attended me until I left Cuba at the age of 11 years old in 2001. WHY DIDN'T ANYONE KNOW WHAT I HAD? WHY DID NOBODY THINK THAT CONGENITAL HYPOTHYROIDISM WAS POSSIBLE? Well, my thyroid tests got lost...every single newborn goes through several tests to make sure that all their systems are working great and my thyroid tests got lost...that is why nobody thought about Congenital Hypothyroidism a diagnoses. I got diagnosed with it when I was 8 months old and they put me on LEVOTHYROXINE 100 MICRO-GRAMS and a week later after taking the medication...my body completely changed...my protruded tongue was thing of the past, my herniation of my bellybutton closed and disappeared, my body temperature increased to normal body temperature, I was no longer lethargic, in fact...I drove my parents crazy with how active I was so soon, and I normally developed. My development was normal...I reached puberty at age 12 without any problems, I have always had normal periods, never missed one, I am in college right now and did not suffer any mental retardation at all in fact I have almost perfect grades and I am studying Nursing. In addition, I have never had any weight problems.



I found out about this blog as I got interested in my condition and I thought it would be nice if I shared my story with you to at least give you all hope. Your babies will be fine...just dont ever give up hope and DO NOT STOP INSISTING....you are the ones who have to insist and not give up. never give up. Yes, I might be a miracle but miracles do exist and your baby could be one...and will be. FEEL FREE TO CONTACT ME...IF YOU NEED SOMEONE TO TALK TO..I AM HERE.

Desiree - posted on 10/28/2011

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wow, Natasha, I can't beleive you linked that article.... I totally thought Aubrey had that. In fact I found out about that syndrom through a friend whose son has it. It surely sounds like Aubs, but she tested negative for it! Thanks for thinking of it though. Eventually we'll figure her out i guess!

Natasha - posted on 10/28/2011

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check out dyspraxia, oral apraxia, developmental coordination disorder, and sensory integration disorder. She may just have a disconnect in the nerve pathways between her body and her brain. If thats the problem its not a life sentance at all just takes more creativity. I have to break things down into so many small steps for my son its almost rediculous! Washing his hands takes 9 steps at least, sometimes more on bad days and less on good days. its amazing how many steps there are to things i used to think of as easy such as pulling up ones pants, or even remembering to put on pants.... (lots of funny stories there)

Dagmara - posted on 10/28/2011

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Alisja...did they do any testing? I diagnose autism spectrum disorders and I am sligtly confused by what you wrote...why are they (who is they?) watching him or perhaps he was tested and did not meet the criteria then but there are still some of the autistic behaviors present? if I could be of any help please call me and I can share what I know...to all of the mom's who don't have answers I will say a prayer and please hang in there. my # 860 748-5644

Jane - posted on 10/25/2011

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@Sharlene: Hydrocephalus is pretty easy to diagnose. I doubt this is the problem here, especially since this poor child has already been shown to have microcephaly. Hydrocephalus leads to a larger than normal head, but microcephaly is a *smaller* than normal head.

Sharlene - posted on 10/25/2011

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Hi . I dont know if this might help Hydrocephlaus? fluid on brain ,speech impairment some do ,devolpment delayed . effects growth from 0-5 yrs it also can affect spine , All the best of luck and I do hope you find your answer very soon ,godbless you

Jasmine - posted on 10/25/2011

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My name is Jasmine Barber, and I am 28 years old. While I am not a mother of a child with any disorder. I understand things from the other side of this situation. At my birth, my parents were told I multiple brain issues that they were unable to diagnose at the time, but gave a diagnosis of macrocephaly ( due to my larger than normal head size). This was after recieving many x-rays, CT scans and MRI's soon after birth. My parents were told it might be better to institutionalize me. They chose not to listen , and I am grateful. In the last few years, I was diagnosed with agenesis of the corpus callosum and schizencephaly, after being given scans for migraines. While my pictures due fit the typical prognosis, I definitely do not. I hold down afull time job, have been successful in college and am capapble of caring for myself.
I am writing this not to brag, but just to say that not every child may get a dagnosis immediately, and those who do should not allow themselves and their capabilties to be limited to what is expected of them. Good luck inyour search! Sometimes it is simply a matter of finding the right medical professional who is willing to listen and consider all possibilities.

Carrie - posted on 07/29/2011

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Have you considered it might be some kind of brain damage? I'm not a Dr. but my son has Cerebral Palsy and we are very blessed to have a great Ped. You may be blessed to not know because you can/she can decide what her limits are! Often Dr.'s are severly wrong about what a child will and is capable of doing. My son is 2 and we were told of his diagnosis at 1year and I decided to go at his (Quinn) pace, I used the "average mile stones" and a guid line and nothing more. Quinn continues to overcome and surpase my/Dr.'s expectations/limits. Currently his cognative level is at the average stage of a 3-4 year old. However his legs don't work as well like the rest of kids his age. We were told all sorts of things "he will never do this or that" So we stopped listening. I learned early that placing limits is more damaging than having CP. It's enough of an emotional rollercoaster overcoming hartbreak that your beloved child is damaged. We worked with Quinn at his level on his level through play and he is amazing. Don't let someone tell you what your angel can do let Aubrey show you. I only say this to as one mom to another. I hope you are able to find the answers you are looking for. Best wishes to you.

Jennifer - posted on 07/27/2011

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Yes, I understand! I have a little girl (soon to be 3 in August). The doctors can't seem to give me an explanation for her acquired microcephaly, epilepsy, infantile spasms, kidney reflux, moderate MR, low muscle tone, and the list goes on.

Rachelle - posted on 07/26/2011

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Sometimes having no diagnosis is better than having one. It took them almost 2 years to get my daughters diagnosis and we still are not 100 percent sure. I am glad I know but some days I wish I was still unsure. She was diagnosed with a degenerative brain disease no cure no known cause. She has Optic nerve hypoplasia, infantile spasms, CP, hearing issues, developmental delay and is 2 1/2 but only 6 months old mentally. Now I sit day by day hoping its not her last day with us and sometimes that is worse because I do not fully enjoy what time I have with her. Just live you lives and enjoy everyday with your child and leave it in Gods hands. If you are meant to know he will let you know when he is ready. It will just fall into your hands one day.

Airen - posted on 07/25/2011

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I know this feeling all to well.. Skiyla will be three next month.. the genetic dr's here have had her case since she was 2 days old.. and as of last month STILL havent got a answer as to what is causing all the issues she has.. Skiyla is very very small... she is 12lbs 7oz and 28 in long.. she still wears 6/9 month clothes.. she has a g-tube and nissen.. they know her abnormalaties but they dont know why they are there .. all her chrom came back "Normal" and so have the other tests. skiyla has only been sitting on her own for about 9 months and she only can say about 5 words. she doesn't crawl or walk... Sometimes i wonder if theres any point in even taking her to all of her MANY dr appointments. (Sorry written a book) but i know that its whats best. because the one day you decide to skip the dr you could miss the answers you seek...

Desiree - posted on 07/14/2011

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sorry to hear that Megan. The not knowing is very stressful, the only good thing i take away from it is at least no one can put limitations on what it is she will do in the future. Her future is in our hands and i intend on making the very best of it and giving her every chance in the world to do all of that her peers can do and more:) I will say prayers for you that you will get an answer soon. I expect to have one in the next 5 years or so. Her doctors tell me it shouldn't take much longer than that before the entire genome is able to be explained. We shall see, best of luck!

Megan - posted on 07/14/2011

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My son, Jayden is going through the same exact thing. He will be two the end of August, but he has been getting testing done since he was two days old. The doctors thought he may have down syndrome, and was tested for it.. negative. He has delayed development and he was failure to thrive. He receives physical and occupational therapy 1x a week and also a teacher 1x a week. He is also about to start with speech therapy. He doesn't walk yet or talk. Then the doctors swore up and down he had cystic fibrosis. He got a sweat test done, negative. He had swallow studys, MRI's, catscans.. all normal. He recently had an EEG done, and that came back abnormal, but still no diagnosis. He just had a micro-array blood test done, and had a few more hormone tests done. Now the doctors really think he has a genetic syndrome called Prader Willi. I know what you mean though, I just want him to get diagnosed already so we can know exactly what we're dealing with. But at the same time, I don't want anything to be wrong at all. Every time a test comes back negative, you are relieved but at the same time, you know SOMETHING isn't right. The not knowing part is what kills you. I hope they find a diagnosis for Aubrey soon! I am beyond stressed about the situation and its only been two years for me, I couldn't imagine 4 years..

Desiree - posted on 07/14/2011

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@ stefanie, I don't think so. I will ask about Foxg 1. As far as we know she doesn't have seizures and she's had several eeg's. She can walk though everything else sounds like your son. I will check with drs and get back to you. Thanks!

Stefanie - posted on 07/13/2011

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Does she have seizures? Can she walk? Reason I am asking is because my son is 4 and has had so much testing and went undiagnosed until 3 weeks ago. He has foxg1 syndrome. Its rare and very new. He is severly delayed, strabismus, not much speech, feeding issues, partial agenesis of the corpus callosum, reflux, low tone, movement disorder, epilepsy. Has your daughter been tested for foxg1?

Jeanette - posted on 03/02/2011

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hi hun, boy do i know how you are feelin. my daughter is now 10 and still no diagnosis for her yet either. she has severe devolopmantal delays which are so bad she is like a 9-12 month old baby. she also has epilepsy and when she has a bad cluster of seizures (not had any for a month thank god ) she regresses from what she has all ready learned, so we have to teach her all over again. it is now got to the stage where my hubby and i are doing reaserch in to her symptoms our selve's. so far we have came up with either retts syndrome or angelmans syndrome both of which are very similar.she hasent even had any gene testing or tests or anything like that done yet. not that i would want to put her through all the tests but like yourself i would love to be able to put a name to what ever is wrong with her ebut we havent even been offered any testing. the only thing's she has had done is eeg's 1 mri scan and a lumber puncture. i know it is frustrating but you just have to hang in there and believe every thing will turn out ok.

Angelica - posted on 03/02/2011

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Desiree,



So you see, you are the lucky one. If I was you geneticist, and we would not have found the cause of Aubs problem, I would tell you that there are at least three possibilities: 1) is is not genetic, but something went wrong in her development – this happens sometimes without any known reason; 2) it is genetic and is a new mutation or 3) it is genetic and recessive.



In cases 1 and 2, there would be no additional risk for future pregnancies. But in case 3, it would mean that you and your husband would be carrier of a rare deleterious mutation in the same gene – an unfortunate combination – and the risk of recurrence for every new pregnancy in that case would be of about 25% for the same problem. And in some rare cases (which could be a 4th situation) in which there is germline mosaicism of one of the partners for a dominant mutation, there may be a recurrence risk of about 50%.



So, actually, with your data it is impossible to know which one of the three cases caused Aubs problems. But possibility 3 seems less likely (albeit still possible), since you already had 2 non affected children.



Therefore, the greatest risk (of having more 2 kids without knowing what went wrong with the first) you already took – and got lucky. The desire to have further pregancies would be the main reason to desperately seek the cause fo Aubs problem. So rejoice. And I mean it. Rejoice, because you did not gave up having more own children and you had them without Aubs problem. I know couples which, in similar situation, also have had two or three children – and all of them affected.



Life is not fair. Still, considering the odds, you are lucky.



And a special child makes the whole family special. You all learn to value what is important. You all get more human. Your children will have a completely different point of view about respect with the limitations of others, about family, care and love.



Because of Aubs you will know people who deal with similar situations – with so much more important life values than so many others have. Depending on how someone deals with the situation, it can destroy a family or, which happens in most cases, the care of a special child can strengthen the family bonds and teach invaluable lessons of life and love.



Therefore, never be guilty about giving more attention to Aubs. The important thing is always involve her siblings in the care and responsibility program and always let them know that you value the help, patience and love that they have with their special sister. Explain that it is not because of loving Aubs more that you spend more time with her, but it is like if you have a bird with a broken wing, it will need more help than a bird with intact wings. Or use a cat, or a dog as an example – depending on what pets you children play with. I have a special brother – and so my father explained it to me. My parents made me feel very important, because I could help my older brother a lot.



And yes, it gave me a different perspective of life – a better one.



Love!!

Desiree - posted on 03/02/2011

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Wow, thank you both so much. I guess deep down I know it wasn't my fault but you can't help but wonder. Especially when every test comes back negative. I appreciate your kind words though and Angelica, you are right, Life is complicated enough, all this stress is not helping. Aside from Aubs, I have a 2 year old and a 10 month old. I think running to doctors like crazy and trying every new test and procedure is starting to weigh on all of us. My two year old Molly said "again?" when i told her we were taking Aubs to the doctor yesterday. She is probably so sick of spending so many days in a waiting room. Maybe it is time to give it a rest, accept she has challenges and just move on with helping her grow and learn. Thanks you all for your support thus far....

Angelica - posted on 03/01/2011

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Desiree,

Sometimes things go wrong. It just happens.



And most of the times we will never know why or how.



Also most genetic mutations which cause problems are new – not inherited. And when they are inherited it still is nobody’s fault. It just means that at some time something went different as it should. With our child, with us, with our parents – and at no one’s fault.



Single gene mutations are much more difficult to trace than little gains or losses. Soon single nucleotide polymorphisms will be analyzable, but we are far from identifying each disorder causing mutation. So without a hypothesis, it will be virtually impossible to know where to look.



Furthermore, there are epigenetic mutations (for instance, features like methylation of a gene), the extent of which is only beginning to be known.



Yes, it is difficult to go on without knowing what went wrong or how. But the one thing that above all is totally unproductive, frustrating and self-destructing is the self-blame for something that you can blame on no one.



Life is complicated enough without us complicating it even further. Therefore…Take a deep breath and survive… You´ve got the power!!



Love!!!

Jane - posted on 03/01/2011

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It wasn't your fault!

One glass of wine will not cause the type of problems your child has.

Not taking the Zofran would have been worse for you and your unborn child than taking it. In fact if you didn't take the Zofran our baby might not have survived to be born at all. And Zofran has not shown to cause any damage to the fetus.

If no one else in your family has ever shown any similar problems then you know for sure it isn't your genes.

It is NOT your fault!

Conception and development is an amazing and complicated process. It is astounding that there aren't even more errors during the whole process than there are.

You are doing the best you can for your child. All the good that can be found in your child is due to your mothering. The bad is out of your control and was not caused by anything you did or did not do.

No matter what your child's final diagnosis turns out to be, you are not responsible for it. However, you ARE responsible for doing the best you can to help your child grow and learn and find joy in being alive.

Go ahead and help your child develop as best she can, and rejoice in her triumphs, no matter how small.

Desiree - posted on 03/01/2011

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ok so we just got back from the doctor and guess what she told me....we've had CGH done twice!! No answers. She actually said we should wait another five years before we test again because by then we will be able to test the entire genome instead of just the random few tests that come out. She also confirmed that Aubrey has had more testing than any child she has ever known!! She said we're not going to get an answer any time soon and we are doing everything we can anyway whether we know what she has or not. I still feel totally defeated though. I never give up on anything and I don't feel like i can move forward until i know. I feel like i am always going to blame the one glass of wine i had the night before i found out i was pregnant, or the prescription Zofran i was on to keep me from being hospitalized during my pregnancy with her. It is so beyond frustruating at this point. I just NEED to know this wasn't my fault via my genes or otherwise! Well, developmental Ped in a few weeks, maybe she'll have more insight!

Angelica - posted on 03/01/2011

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Hi Desiree,



If possible, I would ask for CGH - but it is expensive and I do not know if the insurance covers it.



Let us know what your doctor said.



Kimberly,



"He has Williams Syndrome and we know what chromosome but not which genes he is missing."



That is just the power of array CGH. It cannot detect gene mutations or chromosome rearrangements where no genetic material is lost or gained, but it can very reliably detect a region where genetic material was gained or deleted – and therefore it is possible to know quite exactly which genes are missing (or in excess – in the case of duplications).



And yes... a genetic diagnostic is no cure and (unfortunately) seldom yields help for management of the problems of our child. But it gives us an explanation of why our child is special. And then we usually also can get a more precise information about the recurrence risk. Genetic diagnostic is not a solution – only a more precise information – a help to situate yourself in this matter. Normally this is the least that you want to know.

Kimberly - posted on 03/01/2011

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I feel your pain. My son does have a diagnosis but it is genetic and no cure. We just don't know what to expect and just keep pushing him to learn and take one day at a time.He has Williams Syndrome and we know what chromosome but not which genes he is missing. We had to learn patience but it is not easy...still.

Summer - posted on 03/01/2011

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That's how we discovered our sons Chromosome 12q deletion, through the microrray. Angelica had some amazing information. Good luck and keep us posted. All the best!

Desiree - posted on 03/01/2011

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wow, Angelica...Thank you! I am so glad i saw this post today. We are going to see her geneticist today for her yearly follow up. I am printing this out and bringing it with me! Hopefully this is something new they haven't tried and it will yeild some results. Thanks so much for responding and i will keep you posted!

Angelica - posted on 02/28/2011

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Has your child had one CGH array (comparative genomic hybridization microarray)?
Array CGH is proving to be a useful tool in the detection of chromosomal imbalances in those with mental retardation and / or multiple congenital anomalies.

Microarray-based comparative genomic hybridization (array CGH) is a technique to scan the genome for gains and losses of chromosomal material. This method has significantly high resolution and clinical yield. The limitation of traditional karyotyping is that even high resolution karytoypes are unreliable for detecting many known microdeletion syndromes which range from 3-5 Mb in size.
In patients with idiopathic (no known cause) developmental delay, mental retardation or mental congenital abnormalities, aCGH produces a higher clinical yield then karyotype and fluorescencein situhybridization (FISH). The benefits of this significant increase in diagnostic power include proper referrals to specialists, allowing for appropriate therapeutic interventions and screening, and also less diagnostic procedures for the patient. A diagnosis may also relieve anxiety for families and allow for planning of future pregnancies.

Read more at Suite101: Array CGH : What is it?: This Technique is Quickly Becoming the Test of Choice in Genetics http://www.suite101.com/content/array-cg...

Summer - posted on 02/27/2011

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I would ask your doctor about genetic testing, Our son has similar features of autism, but officially never got the diagnoses and it was after going through number of medical test and seeing different doctors that we did the genertic testing and it came back that he was chromosome 12q deletion. It may help, and get you one step closer to figuring out. We still have questions, because there isn't alot of information about our sons issues, but at least we have a starting off point. Good luck and keep your chin up

Michelle - posted on 02/27/2011

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Has she has other genetics tests, My son has 18q- and ALL the problems that you have mentioned and then some! I have been actually been thinking about getting him tested for Pitt-Hopkins, and I know that Pitt-Hopkins had a lot of the sypmtoms of 18q- I really hope you get some well deserved answers SOON!

Desiree - posted on 02/23/2011

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Hi Rebecca, thanks for the advice. She was tested for Rett's and cleared of it. Her symptoms are most like Rett's /Anglemans'/ Pitt-hopkins, but like I said she has been tested for all three every possible way (deletions, seqencing, mutations, etc) and still does not have them. That is why it is so frustruating. Our doctors get so close and seem so sure and then once again are wrong and we start over!! I have been looking on my own though and will continue too! Thanks!!

Rebecca - posted on 02/22/2011

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One more thing...That could all fall under Rett syndrome as well, especially if she has some difficulties using her hands or tics, but you would think they would notice that by now. I hope you get some answers soon!

Rebecca - posted on 02/22/2011

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I work with many young children with special needs and you are not alone. It's amazing how much doctors don't know! Sometimes I think it's easier for the parents who get a definite diagnosis right away than for the ones who are kept in the dark. I've heard things as strange as a neighbor seeing a show on TV about a syndrome and mentioning it to a parent, who then gets the child tested for it, and it being positive! Do some research on different genetic disorders. You never know, you might stumble on something. Sometimes there is no diagnosis, but all those things could be caused by pre or postnatal trauma. A diagnosis of CP could make it easier for her to get some services, depending where you are. The reality may be that there are things out there that have not yet been discovered. Even with a diagnosis, we never know the outcomes. Don't underestimate her. Just keep expecting her to do the best she can and she will!

Jessica - posted on 02/22/2011

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I can only imagine how frustrating! I'm so sorry. Keep up your hard work. You're a wonderful mama!

Desiree - posted on 02/22/2011

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thanks Jessica...we have had the FISH done though and the methylation analysis as well as the latest microarray. I'm pretty sure that if there is a test out there we have had it. Aubrey has 3 different gentetist from 3 different hospitals (chop, eintstien and dupont) all working to try to figure this out. We did this so that we wouldn't miss anything. At this point though, we still have no answers. They have said science just hasn't caught up enough yet to scan all of her genes and figure out what it is. It is SOOO frustruating! Thank you for your thoughts though, i certainly appreciate any ideas!!

Jessica - posted on 02/22/2011

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This may or may not help, but just in case... my son's syndrome can be diagnosed through a couple different tests. I've known people who initially got a negative on the most common test and it wasn't until sometimes years later that they got a positive results from the second type of test. I would just ask your geneticist if this can be true for other syndromes. Here's an excerpt from a website that explains it, followed by the link:

Two types of tests can be used to confirm the diagnosis. A "FISH" (fluorescent in situ hybridization) test will identify those patients with PWS due to a deletion, but will not identify those who have Prader-Willi syndrome by "UPD" (uniparental disomy) or via an imprinting error. Methylation analysis will detect all three forms of Prader-Willi is the preferred method of testing.

http://www.fpwr.org/prader-willi-syndrom...

I wish you all the best!

Angel - posted on 02/21/2011

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My situation is a bit different. When my son, Jalani (Ja-law-knee), was born he was given the diagnosis of Lissencephaly and Microcephaly. When he was about 3 years old his diagnosis was changed to PolyMicroGyria (PMG) and the microcephaly remained. Jalani passed away October 05, 2010 at 7 years, 8 months and 3 days old. I was told all of his life that he wouldnt live long. I decided when he was about 2 years old that I wanted him to be an organ and tissue donor. As time went on I also decided that I wanted his brain to be donated to medical professionals to help further research into PMG. I was informed 02/16 that Jalani did not have PMG or Lissencephaly. In fact Jalani's condition currently does not have a name as he is the first person to ever been documented with it. Although my son has passed I cant help but to feel like I am back at day one with no answers...

Alisja - posted on 02/19/2011

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yes i understand what you are going through. my son is still been looked at for PDD. they are not too sure where he fits. autism has been mentioned but not diagnosed. they are just watching right now. it is very difficult being the parent and not knowing exactly what is wrong, and trying to help the best way we know with the little information we have. We take one day at a time and are very grateful for the government funding for speech therapy, Occupational therapist, teacher aide.

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