2 Year-old with Developmental Delay-Please Help

Jenny - posted on 08/13/2011 ( 20 moms have responded )

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My son is 28 months old and has developmental delay. We have seen a Developmental Pediatrician and are waiting to get an appointment with a Genetic Specialist. My son isn't walking yet and can only say a handful of words and sign a handful more. He understands much more than he himself can communicate and either crawls or walks on his knees. The Developmental Pediatrician thinks he has a genetic disorder as his Fragile X test from last year was in the "gray zone" (45 repeats). Has anyone else experienced something like this? My husband and I want to have another child, but aren't sure if it is the right thing to do considering what we are going through right now. Our son has been in physical therapy since just under a year old and just restarted speech therapy after having stopped it 8 months ago for financial reasons. Trevor is involved in Early Intervention through the state of Arizona, but they still require a "co-pay" and the amount depends on the financial bracket you fall into. Thankfully, we reached our out of pocket maximum for our insurance already this year so for the rest of the year Physical Therapy and Speech Therapy are covered at 100%. We will start the process to get him into therapies through the school district in October. Until then, we just want to know the cause of all this so that we can properly direct his therapies to better help him.

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Kim - posted on 04/18/2012

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My son was just recently diagnosed at age 7. We recognized the developmental delay at about 1/12. He did walk but not until 16 months, what really grabbed our attention was his lack of language. At 2/12 we had him tested for autism and it was ruled out. We were told he just had a sever speech delay due to all the ear infections he had as a baby. Fast forward multiple assesments, tests, doctors, etc. He is now 7 and in OT. His OT threapist mentioned fragile X to us. She said he had features and traits that were similiar to Fragile x kids. My pediatrician sent us to a geneticist who immediatly said no to Fragile X but said she could tell just by looking at him that there was something genetically not right. She ordered a microarray CGH test. In her words this test is the dagger to the vampires heart. If theres a way to find the cause of a gentetic disorder this test is it. Its expensive around 2700.00 but insurnace will cover it. I think we paid 10%. The test gave us the diagnosis we had been looking for. It was not fragile X as the geneticist said, he has a microdeletion on chromosone 15. A 15Q11.2 microdeletion to be exact. The genetcist said that my husband and I could have the same test done and it would tell us if we are carriers. If my husband or I had the same deletion (we could have it with no symptoms) we would know that we would have a 50% chance to pass it on. We could also find out that neither of us were carriers and it was a new event in our son.. We do not plan on having any more children as we also have a healthy 3 year old so we were not tested. I guess my advise is to pursue the genteic testing. I wish we would have known about it sooner as it gave us the answers we have been after for years. I hope you are provided with those answers soon, thats when the journey really begins! =) Good Luck.

User - posted on 02/03/2012

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I have 4 children, middle 2 are severely autistic, and 21 month old baby is regressing in development. We have had every test under the moon, and took nearly 2 years to get diagnosis the first time at it. My son was thought to have Fragile X in the beginning. The symptoms are so similar to autism. You have to be very aggressive with all the specialists to get what you need and done in a timely manner. Do your homework. Read about every developmental diagnosis that could be possible, and know the info when you see each Dr. It helps speed things up, and they will respect your knowledge, and treat you accordingly. But that doesnt mean you have to nod yes to everything they mumble. Stand your ground. There is great research being done with Fragile X. They recomended to me, Hyperbaric oxygen chamber therapy. Another I cant remember as well, they did similar to dialysis treatments with Fragile X patients and seen the symptoms disappear, but periodically start to return. But, something to start reading up on, because not every Dr will tell you everything.

Amanda - posted on 10/09/2011

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I have a friend who is a carrier of Fragile X. Full blown Fragile X can be pretty bad-it's like a severe form of autism. I know they are extremely concerned about having a 2nd child that may have it and have decided to go the route of IVF to have more kids. Your concerns are very justified, but you have to do what feels right to you and your family! Good Luck!

Barb - posted on 09/25/2011

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Jenny~
Were you able to get the FX blood test done? I am very happy to chat with you and provide lots of info (as both a mom and a teacher). Feel free to contact me privately at bdavis48@aol

Jenny - posted on 09/25/2011

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My son has been looked at by both a neurologist and developmental pediatrician and both have said he is not autistic at all. Unfortunately, we still don't know the cause of his developmental delay. Thankfully though we are able to get both physical therapy and speech therapy for him once a week because our insurance is covering most of it now. He is progressing very well at the moment even though he is still not walking on his own. We see a geneticist soon so that should hopefully bring us more answers.

Mary - posted on 09/24/2011

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I am so sorry to hear that your son is not getting the help he needs due to financial restrictions, that is criminal. Have you spoken with or had your son looked at by an educational psychologist or a neurologist. My son was very similar at 18 months and turned out to be autistic. Although his fragile X was negative, I understand that many fragile x children present with autism.

Teri - posted on 08/23/2011

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my son is 7 with a globel delay as well. he didnt walk until he was two. he didnt put words together until he was 4-5. he is in 1st grade now but on a prek level. we had his vision checked and he sees in sterio vision not 3-d like you and i do. that is a BIG roll in his development delay. you might want to check that out. my son's eyes sometimes do funny things that is why we had it checked. when Zeb was 18 months i found out i was having baby number 2. i freaked but Allie has been a lifesaver. Zeb has watched Allie do things and Zeb shortly after has mastered those skills. Good Luck!

Cassandra - posted on 08/17/2011

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I am so glad you are going through the school district to get the therapy's. My son received Physical therapy speech and occupational therapy in pre-k. He is almost 9 now and still receives all these services through the school. I would look into a DD waiver soon too. Find out when and if you should appy for it. I just had to go through this with my son. I am just beginning the process of looking into SSI for him. My son is 8 your situation sounds somewhat similar to ours. We wanted another child, and could never find out what was actually wrong with our son. We ended up getting pregnant, and then i panicked. We went to a Pediactric Neurologist did all the genetic testing he measured my sons face hair line distance between his eyes looked at my husband and I as well, the works. His tests came back negative, and we didn't know what our baby would have to deal with because we still to this day have no idea exactly what his diagnosis is, or why he is the way he is. In my experience ask ask ask. I would call and speak with your genetics Dr. if you already haven't. Ask him what the odds are what you can expect if you do conceive again. In my experience ask every question you can. Its amazing how hard it is to get answers with children with disability's its always a dead end it seems. At least for us. My son has a handful of minor issues, that work against each other it seems, rather than a solid diagnosis of a certain disability. Its very frustrating not knowing what exactly is wrong with him. He is almost 9 and I have been actively trying to find out what is wrong so we can help him since 2. I was told last October that we may never find out exactly why my son is the way he is. Anyway I am falling away from your question. So we decided that we were going to have this child, which turned out to be twins. My girls were born oct 1rst and my son turned 6 oct 10th. There is quite a difference in age. That i am very thankful for. We ended up finding out we were having a surprise when my twins were 3 months OMG. So point being. If you cant be told a yes your odd are: then its up to you and your husband to decide if this is something you are ready to take on regardless of the outcome. I adore all of my children. I love my girls, by the way who seem to be disability free so far. Yet sometimes i feel very guilty because I could work with my son so much more if I didn't have such a full plate with my little ones now. You have to weigh that issue. There are so many things to consider. We thought we would just have one more. Nothing in our life turned out as planned. You just have to go with it i guess. If we would have never tried again we wouldnt have our beautiful girls. Yet maybe my son would be better off with all of my attention. You'll never know. God blessed us with all of our children for a reason. I just keep reminding myself that when the disasters happen...
I hope I helped a little, good luck!

Nancy - posted on 08/17/2011

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Hi. The diagnosis will help, but you don't really need it to treat. The EI therapist will evaluate current level of functioning and then treat the delays/deficits. What you need is a therapist who is good at developing and facilitating gross and fine motor skills. I worked in home care for 16 years and treated many genetic disorders, including fragile X. Weight bearing, resistance and balance exercises will help tremendously. Please look at my blog and search articles on exercise or milestones. I give descriptions so you can do these activities at home. Be sure to check out trunk control and trunk strengthening.

By the way, there are many articles on low tone, cerebral palsy and other developmental delays. The blog is www.milestonemom.com.

Andrée Claire - posted on 08/17/2011

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I have a 2.5 year old daughter who has global developmental delay (she is crawling but not walking yet, and she does not talk or sign at all). She has seen a geneticist and they have done an array CGH test, as all other doctors couldn't find the cause of her delays (they did many many tests). The genetic test came back and she has a deletion on chromosome 12, which probably explains her delays - they have not seen that deletion before - and so it's only a probably. It is a random mutation (me and my husband do no carry it), and so it is unlikely that other children will have the same chromosome disorder. I would wait until you have more answers from the geneticist - they can advise you about the risks of your other children having the same thing or not, if they find anything that is! It took a little while, but it is such a relief to know what's causing all this. We now have to decide whether to have more children, and the geneticist advice makes it now possible rather a complete no, no way. We'll just take our time to decide, we'll know when the time is right. Wish you lots of courage to keep pushing and be patient at the same time!

Jodi - posted on 08/16/2011

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Our son had developmental delays. He didn't sit up on his own until after his first birthday, went through physio and occupational and speech therapy, saw the endocrynologist,for growth tests because he wasn't growing and so forth. Ask to see a neurologist first and foremost to rule out things. We didn't get to see one until our son was nearly two and it was then it was discovered he was recovering from a brain injury and had mild Cerebral Palsy and now is being tested for Asperger's.

Rosie - posted on 08/16/2011

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oh and also ask about TEFRA. Its under medicaid but its for children who dont qualify for reg medicaid but have alot of medical expenses. It comes with a small monthly copay, ours is $40, and it pays everything having to do with his medical care. Chidlren shouldnt have to stop their treatments because their parents can not afford it. Definitely ask your pediatrician about it. It has been a life saver for us.

Rosie - posted on 08/16/2011

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I was wondering if he is in an early intervention center? Mauricio has been in it since he got home, 3 months and has had all the services right from the start. Therapy is absolutely wonderful and they younger they are when they start, they faster they pick up on things. Although Mauricio is still unable to sit on his own or be mobile, his therapist are sure he will get there. Some kids take longer to reach milestones but with patience and constant therapy, they will get it. EIC is absolutely wonderful because they not only help with medicaly needs but also social help, assistance with food or equipment for the child also. I would definitely recommend you talking to your pediatrician about this if he is not already in the program.

Jenny - posted on 08/16/2011

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Thank you so much for all your help. My son is in Early Intervention through the state of Arizona. He gets Physical therapy and Speech therapy once a week and in October we will begin the process of getting all the services through the school system. The problem that we are having is that no one seems to know what is causing his developmental delay. His pediatrician, neurologist, and developmental pediatrician are all stumped. The therapists are concerned because he seems to be at a plateau-not improving, but not getting worse-thank goodness. We are waiting to get an appointment with a Genetic Specialist. Hopefully we can learn the cause of the delay so that the therapists can direct the therapy in a way that help him better. I admire you for raising triplets and even more so for raising ones with challenges. Like you, my son is the light of my life and I am thankful that he is at least happy and healthy.

Cathy - posted on 08/16/2011

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Hi Jenny: I don't know what state you live in but your son may qualify for early intervention which would entitle you/him to any services he needs (OT, PT, Speech) until he is 3 years old. Once he ages out of EI, he would qualify for a disabled pre-school which in most states is a full day program tht would be tailored to his specific needs. Then you would, at some point before he enters school, sit down with a Child Study Team and develop an IEP (Individual Education Plan). I know I'm getting ahead of myself, but just wanted to give you an idea of what's coming in the near future. I have soon to be 11 year old gbg triplets that were born at 26 + 5 days gestation. My biggest was Madison at 1lb 15oz, Michaela was 1lb 10oz and Matthew was 1lb 6oz. They were in the NICU for 2 1/2 months and had so many issues. They received all of the services I mentioned above and are now going into middle school, all 3 of them with IEP's. So, I speak from experience. One of my girls has CP as a result of a stroke when she was just 2 days old. Lots of issues for her, my sweet angel girl. She was not expected to survive the night and although she has her share of delays and physical challenges, she is my hero and brings joy to me every day - even the bad ones. Matthew has AD/HD and is on meds for that - he struggles in school with reading comprehension and writing, but excels in many other areas. Michaela has also been diagnosed with a learning disablility and still receives services and is in a Language and Learning Disabled class. I'm sorry to have gone on & on about my kids - what I really wanted to say was that Madison didn't walk until she was 4 1/2, didn't walk independently until almost 7 (wasn't potty trained until 9). Don't give up - you have to reach out to a Social Worker at the hospital where he was born and ask them for help in getting him more services. If they can't help you - go to your local school system and speak to the counseler - they may be able to help. There is hope......I will pray for you & your son. If you would like to talk more - let me know and I will private message you my phone #!!! Peace to you and your family!!!!!

Cynthia - posted on 08/16/2011

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Hi, I had twin girls that are now 5 yrs old. Angie was diagnosed with CP from very young when she came home she had her first OT and PT appointment. She is Hemiplegic CP, she didn't start walking till 2yrs and we still struggle with balance issues but she as accomplished soo much and I truly believe it is because she had a twin sister and an older brother who was 3 yrs old when the twins turned 1!!!! She learned soo much with playing and interacting with them. My son Peter has a speech delay and he is 7 yrs old he still has diffuclty at time but has improved with the resources from his school. From young childern need to be read to and do sing and action songs. Were I live there are places called early years centre that are free to go to, kinda like a drop in centre where the parents stay with the kids. My youngest has been going with her siblings since she was ery young and I can see the difference that place has helped us so much they have many resources. Another place that I love is Holland Bloorview for them you need a referal from your pediatrician. Think positive and best of luck!!!!

Heather - posted on 08/15/2011

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my son is 7. He functions at about a 1 yr old level, has seizures, legally blind, cannot talk but can verbalize, etc. He's such a sweet boy!! We decided when he was 3 to try for another baby. We knew at that p oint his condition was most likely a genetic mutation and not inherited, so we decided to roll the dice. We figured we'd either end up with an able bodied child, or another special needs child- and if that happened, we were ok with it since we already knew what that was l ike. One year later our daughter was born, and is able bodied. they get along beautifully and love each other very much. it is challenging to balance their individual needs but with trial and error we figured it out!

Dena - posted on 08/15/2011

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My son Bryce is now 6.He was born with GoldenHar Syndrome and also so was Developmental Delayed.We started young with him with OT and Pt.He did not walk till he was 3.He is also so deaf we taught him sign and he learned to lip read.He wears a bone conduction hearing aide which helps him hear normal.With alot of speech therapy I can understand him.It just take time.I wish you all the luck.

Rosie - posted on 08/14/2011

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Hi. I also have a 2 year old, turned in July. Mauricio is very delayed in his milestones due the he being diagnosed with CP and hydrocephalus. He cant walk or crawl or sit unassisted. He also doesnt talk but understands very well. I dont know about the fragile x test but i decided to post because of the second part of your post. Eventhough Mauricio is behind and sees alot of specialist, which we have to drive 2-6 hrs for, we are planning on having another baby soon. My doctor has given us the go ahead as of october and we are hoping to get pregnat soon. If all works out as planned, Mauricio will be 3 when baby 2 is born. We thought really hard about this decision and have realized that having a younger sibling would be nothing but great for him. He curretnyl goes to daycare from 8-1 for therapy and loves being with the other babies so i think he would love having his own baby at home. Plus i think it would help him reach the milestones quicker if he has a buddy to practice with. I know it would be more of a challenge for the appointments, esp the Houston where we drive 6 hrs, but my hubby and iI will work together and get it done. I have seen personally how being around other kids help children with delays so I would tell you, if his delays are the only thing stopping you from having another, dont let it. Its amazing how children can teach other children far more than any professional can. :)

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