Hello Everyone! I've been meaning to get on here to introduce myself and tell about my son, Jacob. As you all know finding free time is difficult! I've enjoyed reading about your wonderful children, Thanks for sharing, as it is at least comforting to know that someone understands and knows what it is like. I have a typical almost 5 year old girl and Jacob will be 3 next month. His deletion is 4q 21.23, which we finally found out last December. I knew something was wrong at 1 month of age because his head was huge. Also he was not making any eye contact even as he got a few months older. At birth he was full term and 8.2 lbs., but he was kept in the NICU for a week for low body temp. and breathing difficulties. He had a very hard time learning how to nurse having been on a feeding tube, having a high palate and poor sucking ability. He had horrible reflux as well. At 3 months old I found out Jacob has optic nerve atrophy and has since gained central vision (thank God!). He is sick often with congestion and had RSV at 6 months old. This led to daily breathing treatments up until this month. Jacob has had ear tubes twice, his adeniods and tonsil removed, which has stopped his sleep apnea and most of the breathing issues. He still has been getting sinus infections though. He has low set ears, very low muscle tone, and small hands and feet. He learned to sit up right before his 2nd b-day, but still requires assitance sitting up and laying down. He can only bare his weight for a little bit at a time. I am hopeful he will walk in the future! Jacob can roll around, but not crawl. He was saying mama and dada at 17 mo. and now says nothing although he uses several signs. This makes me think about the autisitic discussion!? Jacob is a wonderful sleeper and has no stranger anxiety, but bites, pulls, and pinches some. He eats like a champ (hard to believe we spent months in feeding therapy and he used to gag on pureed food.). That said, Jacob is a blessing that brings a smile to all that meet him! I am on Facebook as well and am open to answer any questions you may have. Warmly, Lori Clark

Hi Lori, Jacob's deletion is very close to my son Brennan, his is 4qdel(q21.3,q23). He is 4 years, 3 months old. He started walking without help about one year ago and wears braces. He still doesn't talk but uses few signs. He is on JK and loves school. I tried to find you on Facebook but there are more than 500 results, so add me please. I check Facebook more often than here. Take care Daniella

Hi again, Forget to tell my full name for Facebook. ;o) Daniella Alvarez Paudash If anybody else want to add me, feel free to, I will be glad to talk about our kids. Daniella

I may have met you guys at the yahoo group, but I'll introduce myself anyway. I'm the mom of Shiny. She has del 4q21.1-21.3. She turned 4 in March and is flirting with the idea of walking but not doing it yet. She's a genius undresser, it is impossible to keep hearing aids on her (fortunately her hearing is now just mediocre and not bad enough that aids are strictly necessary) and eyeglasses are a lost cause (i'm working on a harness system to attach them to her head so that she Cannot. Take. Them. Off. because her vision is terrible.) Her language... she knows a tremendous number of words but has a terrible time trying to make most sounds, so she signs a lot and talks incomprehensibly with her limited range of phonemes. But she's working on counting, which is amazing, and knows a lot of the alphabet. She knows that 8 comes after 7, and loves it when we count to 100 for her. Just yesterday she grabbed my hands and we went for a walk around Grandma's house... I was dumbfounded as she rarely tolerates holding hands to walk, and never more than a few steps or up stairs.

Hi everyone. I have just started a 4q deletion group on Face Book. (Well, nearly everyone uses it these days!) Have made it easy to find. Just search 4q deletion. I know there are other groups but I'd like to try & get this one to be on the light side but informative also. Take care everyone! Tracey G

Hello Ladies. I just found this group - i'm looking forward to chatting with you more. I've just requested to join the FB group. Our son Henry is only 30 days old! He had several difficulties at birth which prompted him to be airlifted to Children's Hosp in Philly (CHOP). I'm still here with him now. Aside from bilateral cleft lip and palate, he has a congenital heart defect called DORV and was diagnosed with 4q deletion(31.3). Needless to say, we can tell NOTHING so far of Henry or what's in store, but i can get an idea from what you guys write. He was diagnosed, obviously, very early, and i'm going to count that as a blessing as we'll be able to get into Early Intervention immediately. Feel free to read our family blog. I've been updating it regularly since 2005, and especially lately with our news on Henry. He is our third son; our other two are Samson (4) and Thomas (18 mos). Take care and hope to hear from any of you, Chris

Chris, Welcome to the group and give Henry a hug! Saw your post this morning. Our daughter Adeline's deletion is 4q21.22q21.23 and she is 21 months old. This is a great site and have emailed their disorder description to so many of my family and friends. Wanted to tell you about several other sites too that might be helpful. Unique, rarechromo.org, 4qdeletion yahoo group, that Jenrose started, CDO, Chromosome Disorder Outreach, Inc. and Pager, reflux.org. (for reflux). They all have been a lifesaver for us! Will say a prayer for your little on! Lindy

Hi Chris, This is my 1st time to participate in discussion on this website. I saw your post and the picture you posted of your son and it reminded me so much of my son Camron who is also 4q deletion 31st quarter. I have not found many with the same quarter deletion as his. My son is now 26 years old and we have learned basically all we have about this deletion through living it day to day. Camron is my baby. He has 2 older sisters with no problems. Camron also had cleft lip and palate at birth as well as vsd heart defect that healed on it's own. he had hand deformities as well as other things. He is very small for his age as he is 4'10" and weighs 90 lbs. Has very small feet and hands. and a mental capacity of about a 2-3 year old. Has very Autistic characteristics.So many more things that are just to much to post at this time, but I would love to answer any questions you may have. Please let me know if you are interested. Sherry

Lindy - thank you for all the websites. I will check them out... Sherry - very insightful post, to say the least. My biggest question to you would be "How has the past 26 yrs of your life with Camron been, overall?" A hard one to answer, i bet. I was most taken by his mental capacity. Your son seems to have so many similarities to Henry. While i know this disorder seems to have many ranges of ability and development, even among children with the same exact karyotype, I can't help but wonder if we are in store for the same as your Camron. It's hard for me to take too much of this in at this point, with Henry only being a month old. I might truly feel, at this point, that "Ignorance is Bliss." Of course we will always love him, but i'll be honest in saying that the idea of him having many mental and developmental complications is daunting to me. Sigh. As you say, "Day to Day." It's all i can do. If i focus too much on the future and all that i DON'T know, i'll fry my lil brain, and Lord knows i need it to keep me functioning with my other two sons who are fine. Thanks to everyone participating... its nice to feel connected, even while not meeting or KNOWING any of you. We're not alone.

Hey Chris, I have an almost 6 year old daughter who was diagnoised at age 3 1/2. She is the happiest, most social, little girl. People gravitate to her for this reason. I know she has touch so many lives in the 6 years she has been here. It is amazing to watch how God works through her, and the people that have been in our lives because of her. Just sit back and love your little guy and watch all of the amazing things that happen because of your precious little gift. I have also grown alot as a person through all of these experiences, it is pretty awesome. Unique is putting on a 4q Study in April. It is in Coventry, England. So, maybe after the study is published you will have some of your questions answered. We are hoping too!! We did some fund raising to get there, and are looking forward to the experience. If you do not attend I will share our story with you, when we get back.

To Savana's Mom - - she is GORGEOUS. Your words really struck home and helped me refocus on my game plan from the git go of learning this news: Love Henry for Henry and the rest will fall into place. My husband and I are so strong and our family rocks, so i know things will work out just fine. To all the moms... its nice to talk. I will look into this Unique group and get even more info. You've all been great. Henry's probably the youngest newbie on here, so its nice to hear all the perspectives. Peace.

Chris, I totally understand how you are feeling right now. I remember as if it were yesterday the overwhelmed feelings I had after Camron's birth. At that time there was not much info they could give me about his disorder as it was so rare and still is, especially the 31st quarter deletion. You are certainly right, every child is different and we never know what will happen and how they will progress. I can tell you that taking it day to day is what you need to do. I also had a great family support system and am grateful that my other 2 children were older as they have been a blessing in helping to care for their brother all these years. Camron was sick alot for the first year of his life especially with pneumonias but after that has been amazingly healthy. The child never gets sick. He has the occasional cold or virus but that's it. Yes the developmental delay is daunting and Camron will always need our care but he is also a great joy. He loves his family especially me, his sisters and grandmother. He has lots of personality. He does walk and gets around on his on but basicall it's like always having a 2-3 year old under foot. He loves watchimg TV especially pro wrestling and nascar and game shows. Again there are so many things I could tell you but don't want to overwhelm you anymore at this time. I just want to make myself available to you for any questions you may have or if you just want to talk. I so wish I would have had someone to talk to over the years who knew what I was going thru, but there were no forums like this back then. You may also email me at sherryjolene@gmail.com if you would like.//Sherry

Hello. I teach children and have a student with 4q deletion syndrome. I wonder if anyone could share how their child best learned and retained information.

Hi everyone. My name is Naomi, and my son Elijah has deletion 32.3-34.3 He is now 1 year old, and is doing wonderfully. He is army crawling like a champ, sits on his own, loves to stand at the couch, and is working pulling up. He doesn't seem to have any muscle tone issues. His speech is definitely delayed, and he is often quiet. He is able to make a few consonent sounds (b, d, and g), but most often makes vowel sounds when he is communicating. We started his speech therapy this past week. The diagnosis is definitely tough to take. It took me a full 6 months to really accept it, and to realize that we are going to be okay. You never dream of having a child with a disability. But.. I have since realized that first and foremost he is my child. And regardless of what his future holds, I will love him with a passion that can't be compared to anything else. When he was first diagnosed, I wished that someone could give me a picture of what he would look like at 20. I felt like if I just knew what he would be capable of, than I would be able to accept it and move on. But, I have since learned, that ignorance is in fact bliss. It is much better for me to not know yet what he is capable of. If I knew he would never talk, than there would be no reason to do speech therapy with him, and to work on his sounds. If I knew he would never walk.. then why bother with physical therapy. Not know keeps me from putting him in a box, and telling him what he is capable of. His future is a blank slate, just like that of my other 2 children. Early intervention is HUGE, and has proved to be so hopeful for Elijah thus far. It is such a blessing to have our state pay for this, and have them come into our home every week. Elijah wasn't diagnosed until he was 6 months or so.. and I am grateful for that. I had a really hard time bonding with him before his open heart surgery at 4 months, and I feel like his diagnosis would have pushed me over the edge. By the time he was diagnosed, he was breastfeeding full time, was much healthier, and I was finally bonded with him. Hang in there.. it is a lot of information to get.. sometimes helpful.. sometimes overwhelming. But most of all... love Henry as you do your other boys. He is a little boy... don't let his diagnosis define him. First and foremost, he is henry. Everything else is just a small part of him! I would love to answer any questions you may have.. or talk with this more with you. Find me on facebook. My full name is Naomi Wejrowski

Hey Naomi, I can relate to everything you wrote. I am, in a way, also glad nobody knows what the future holds for our little one. However, it would be nice to have some information, so as problems arise we know how to deal with them. I too have accepted that our daughter will always be "different" than our other children, and I wouldn't change that. We love her just the way she is, and I could not even imagine her any other way, she is a blessing. However, as she is getting older, and it is becoming more noticable that she has a disability, due to her falling further and further behind the "typical kid", I sometimes get sad all over again, as if I just found out. I don't know if those days will ever go away. I am glad there aren't many sad days, and I always try and look on the bright side. I am so thankful for all that she has accomplished, and enjoy her just being her- Delightful. Anyway, she is almost 6 now, we are a little ahead of you, so if you have any questions for me, please let me know. Take care, Amy Christison. I am also on facebook.

Funforty, Hi, I have a daughter in Kindergarten this year. She has a focusing problem, we are always having to redirect her. Her Preschool teacher told me, "She is smart, the problem is she uses her cuteness to get out of doing her work." She definitely learns better one on one, because there is less distraction. At home she can identify upper, and lower case letters. However, at school they can not get her to do this. It has been written on her IEP for 2 years! This is very frustrating, because I know she can do this, and I feel like we are not challenging her, with new task. Please let me know if you find anything helpful. Thank you, Amy

Hey Amy. Nice to meet you. Your daughter is beautiful, and sounds like she is doing so well. Elijah's only 1 year, and I know all too well that feeling of being sad.. like he's just been diagnosed. Thankfully, I am usually able to remind myself that he will be okay.. that we will survive this, and be better because of it. And then I'm able to pull myself out of the funk. I know that there are going to be high points and low points over the course of Elijah's life.. but I refuse to let the low points affect his everyday. He is an amazing little boy.. and deserves just as wonderful life as anybody else. The good news about congnitive impairment is that he will love his life, regardless of how impaired he really is. In my mind, the physical disability is so much harder, because it really limits them. Do you have Savana on any type of supplements? I know I've read on here something about supplementing them with a specific vitamin that often helps their language. Thanks. Naomi

Hi everyone, I really can see all points to this discussion. I have been in every emotional place that you all have experienced. I think there are different levels of acceptance of what happens with our children. I think that the severity of their disability plays a big part in this. I know that the level of the 4Q deletion is crucial in terms of severity of the disability. My son has 31st quarter deletion and it sounds like the children with the 21st-23rd deletions are not as severe. But in any event you are correct, sometimes not knowing is better, but then again sometimes knowing helps. My son is now 26 and is actually very healthy. I had no one to talk to in all these years because when he was younger, groups like this did not exist. So everyday was a learning day with Camron. Also back then early intervention was highly recommended. We participated with homebased teachers until Camron was 3yrs old and then he started special ed school. He went to school until he was 22. He had OT,PT, and speech therapy all those years. And although we have been through all of that, I can honestly say that if I had had another child like Camron, I would have done it all over again, even those things that did not neccessarily help Camron, just because every child is different and you can't ever take the chance that you will miss something based on someone else's experience. However, I sure would have liked to have had someone to talk to that understood what I was going through and to maybe give me an idea of what was ahead. I also agree that you have your good and bad days, and yes as time goes on, the bad days receed because that child becomes the focus of your life and that's just the way it is. That's the life we live because we love our child. Have you ever heard that saying "If Mama ain't happy, then ain't nobody happy?", Well in my house if Camo ain't happy then nodody is happy. He rules the roost. But I am only human also and I still have those days where I wish he were a normal son who did what normal son's do. But thank God I have a very supportive family, a wonderful husband and 2 daughters whom have always helped care for their brother and still do. Also I thank God that he blessed me with an optimistic personality. I choose to focus on the positive things. Camron has had lots of challenges and still does but he is also loving and funny and sweet and I couldn't imagine life without him. I have learned to forgive myself for feeling sad sometimes. I am happt to answer any questions antone has or just listen. Sherry

Thanks Sherry!! :)

Sherry and i have been chatting a bit offline because our sons have the same quarter deletion (31.3). Although Henry is only 6 wks old, i see similarities between Camron and him. As i said to Sherry, our chatting is bittersweet - i'm thoroughly enlightened by her sharing her experiences and knowledge with me, and at the same time, want to wander 'unknowingly' into this to give Henry time to show his colors. I think i'm balancing the two nicely. I love reading what you've all had to say, and agree with Sherry wholeheartedly on the effectiveness of such websites like this, to help bond us all together and let one another know we aren't alone. While we'll probably never meet, i still find comfort in knowing you guys are out there and sharing your stories. I WISHED THERE WAS A PICTURE TAB/LINK!!! [So that all said, check out our family blog (see my profile for link) as well as finding me on FaceBook (Christine Samson Telford) too. LOTS of pics there, not so many of Henry yet, but soon.] Henry has two brothers, Thom (19 mos) and Sam (4 yrs old). Thom, of course, has no clue about Henry other than to try and steal the pacifier that we're already struggling to keep in his mouth due to the bilateral cleft lip/palate (you are supposed to LAUGH at this image, because we do). Sam, however, has quickly and easily taken on the role of loving older brother. OFTEN comes over to kiss Henry on the head, say "there there" or "Henry, you're such a good boy." Of course, he got these sayings from me, but its so much cuter coming from him. And when he does this stuff, i get flashes of our future. Sam and Thom will always love and help their brother, have an innate appreciation for people who are 'different' and our family will be this great big LOVE FEST. Its NICE. Of course i realize there are challenges, but as you've all said, the happiness far outweighs the sadness. I think Sherry is right - i think there is something about our quarter deletion (31.3 and around it) that is more severe than those of you with deletions around the 20 mark. I find it interesting that we, as concerned loving parents, are figuring out this disorder more than geneticists. I was told this was a VERY RARE disorder, no documentation, no real knowledge. YET, i do a google search, find all of you, and already i know more than the info i was provided. I mentioned this to Henry's cardiologist, in chatting, and he found it fascinating how resourceful i am. I told him its actually really easy if you are open and able to maneuver around the internet (he's an old school doctor. His whole office is a time warp to the 50s. I LOVE HIM. He's the type of guy you refer to as Doc Finnerty, instead of Dr... Can you see it?) You guys all rock. Our kids rock. Perhaps i'm overly optimistic at 6 wks old, but remember, i'm a mom of now THREE boys, the first 2 broke me in pretty good (and continue to) and my hubs is awesome. This is doable. Bring it. ;-)

Chris, so good to hear from you. I have been keeping up with your website. Glad ya'll are adjusting well and Henry seems to be doing good. It sounds like you are also adjusting well. I also wanted to comment on what you said about your boys accepting Henry. That is so important! Experts told us from early on, to make sure the girls(Camron's Sisters)accepted Camo and his disabilities and limitations, because this would also affect their lives and how they did socially. Well let me tell you, that was never a problem! They always brought their friends around and the 1st thing they would do was introduce them to their brother. If they did not react well to Camron then they were not friends anymore, but interestingly enough, most of theur friends were fasinated with Camo and thought he was cute and funny. Even their boyfriends have always accepted Camron, even the serious ones who knew that if they wed one of the girls that Camron was possibly part of the package. Both of my girls have said that if anything were to happen to me, they would take care of their brother. They would share his care. I am so grateful that he is the baby and they have always been around to help with him. They are great with him. Next to his Mama, he loves his sisters the best! Chris you are also right about so little info being available about 4Q deletion 31st quarter. It is very rare. You are only the second person I have ever talked to with a child with this same deletion. 2 years ago, a lady from Philadelphia contacted me thru Unique. She had a grandson born with same and he was much sicker than Camron or Henry was. She did not stay in touch so I am not sure what happened with that child. I know that she said the parents were not coping well. In fact alot of the info out there is based on Camron. I participated in a study thru Unique, where a Dr was doing a study on 4q deletions. Although our names are not listed, I recocnize some of the information to be specific to Camo. Nobody really cares about it because it is so rare. Only us that are affected care. So we must continue to network to share info. Take care all!

Hello group especially Amy, The child I teach has learned to count and has good memory and verbal skills but has not learned any letters this year at all. Both at home and at school. Just wondering if anyone has seen this in the 4q deletion? I can't say too much due to confidentiality but I think I will tell the parents about RareShare. Thanks

Wow, I never realized there was such a big 4q deletion group! We were told it was extremely rare, but I guess the geneticist was wrong! Our son Franklyn (Frankie) was diagnoses with Tetralogy of Fallot at 5 days old after being airlifted to Loma Linda Children's Hospital in Southern California. He also had huge but low set ears, thin upper lip and later diagnosed with basically a useless left thumb. LLUCH decided to run a full genetic panel to see if the TOF was caused by anything else such as Di George's. Instead they found he had a "*_A terminal deletion of 21 oligonucleotide probes from 4q35.2_*" He's now 19 months old. He bounced around the developmental chart. His first understandable word was at 4 months (confirmed by his pediatrician), but he has a limited vocabulary and his complete sentences are limited to "I love you" and a few others. He never really crawled like a normal child and though he started creeping about 11 months, didn't walk on his own until 16 months. Even now he's still in the "drunken sailor" phase of walking. When his results came back, they tested me and my husband, though not extensively to the point of where the deletion occurred. So at age 34, I learned I had the 4q issue as well. I still need to be tested to see if it is terminal like my son's or partial as it seems many of your children are. Other than adult onset asthma, I've been healthy my whole life. I've requested to join the Facebook group, and I know my husband would like to join as well. Probably by Mother in Law who's a nurse and has some genetic work/study under her belt. If anyone would like to friend me, my full name there is Jennifer Thrailkill-Leonard. My son also has a group page, just search for Franklyn James Leonard

First of all Jennifer, welcome to the group! I too was amazed at the amt of people/families with 4q disorder, as my geneticist also told me the rarity of it. Yes, in the grand scheme of things and certainly compared to say Downs' Syndrome, it IS rare... but not when you have an organized group online. Also check out the group Unique. Frankie sounds better off than my non-chromosome-disordered middle son Thomas!!!! Thom didn't walk til 17 mos and he's still not talking at all at 20 months. And a word at FOUR MONTHS? That's amazing in the sense of NORMAL development! From what little i've learned so far, it seems that the farther down on the chromosome the deletion is, the milder the disorder. While your son might have physically anamolies, it sounds like he's doing pretty good on the developmental scale (?)... Good luck to you! I love his name! In Henry news, he's now 3 mos. old and he's SMILING!!!! I just freakin love every time his lips curl up! He's also cooing and to my utter joy and amazement, he is holding his own head up pretty well when i hold him on my chest facing my back! So far, he seems to be right on course for a 3 mo. old and that is really encouraging to see happening. We have no idea what we're "going to get" with Hank, and i've been pleased with what i've been seeing so far.

Hi, MY NAME IS LIDIA . I"M NEW TO THIS SITE. I HAVE A BEUTIFUL ANGEL NAME SOPHEA . SHE HAS DELITION 3Q-4Q.SHE'S TURNIG 3 IN SETENBER,SHE'S NOT CRAWLING,SITTING,OR WALKING. SHE STOP EATING PUREE FOOD A YEAR AGO .SHE ONLY DRINKS PEDIASURE IN HER BOTLE.SHE'S BEING GOING TO FEETING THERAPY BUT IS NOT WORKING.SHE ONLY WANTS HER BOTLE.IF SOME BODY HAS ANY SUGESTIONS LET ME KNOW .ALSO SHE ALWAYS GETS COLD SORES IN HER MOUTH.GOD BLESS ALL OF YOU.THANKS.....

I have a daughter with a4q32.2-4q34.1 deletion she has some of the symptoms but no cleft palet she has myoclonic seizures and Prader-Willi like symptoms She is 44

Warm Hello to families. Our eldest daughter, Jane, had a 4q21.12- 4q22 deletion. She lived a challenging life with strength and grace and passed away almost two years ago, two months before her 25th birthday. She was severely affected and, as the previous post, appeared to have Prader-Willi like appearance and symptoms. As a parent, I feel as if I am looking back and waving at all of you behind me on a path - hoping that I can share from our experience anything that would support others but knowing that each child, family, and journey is unigue. Best to all.

Hello everyone. I just found out about my son's 4q22.1 deletion and met with the geneticist a few days ago. She basically sent me out of the office saying that she did not know anything about the genes he is missing and that if any research comes out about it, she will be in contact. My son Owen just turned 2 and has many of the characteristics listed on this groups description (low set ears, bending feet in strange places, developmental delays, low muscle tone, etc). He was also recently diagnosed with Autism, thus the reason for his genetic testing. His tests came back negative for Fragile X and other tests they were looking for, however, they accidentally found the 4q22.1 deletion but tell me they do not know what it means. I was wondering if anyone else in this group has a similar deletion, or if anyone can share any insight on where to go for further information... any geneticists that have been helpful? I live in New Hampshire and was going to Boston Childrens, but they basically told me they don't know anything about this gene.... So, I would love to hear any advice or information you guys can share with me! Thank you, Danielle

Danielle There is research taking place on the 4q deletions. During the last few years of my daughter's life she was included in a research project re the detection of deletions and gene mapping. Even though she passed away almost two years ago, the research project continues. As the team has communicated with me over many years and acted as an additional and unexpected source of support, I took the opportunity on a recent trip to southern BC, to meet with a couple of members of this research team at the Vancouver Childrens Hospital. They are near completion of a journal article related to my daughter's condition with comparison to other people with a similar deletion. I understand, they communicate with researchers in other countries. As noted in my previous post, my daughter's deletion was 4q 21.12 - 22 and while I understand that each child will have a unique presentation, some of her characteristics were similar to those of your son. Speaking of autism, have you seen the recent movie on the life of Temple Grandin? I found it to depict well the sensory processing difficulties of autism. I am wondering how we go about sharing names and specific information...I am thinking that I will contact the team to ask if I am free to post names and contact information here or if they will contact the Boston Children's Hospital. I look forward to hearing from you. I can't give you much advise but would be happy to share our story with you. I wish you a relaxing weekend with your family - for us in Canada it is the Thanksgiving weekend.

cmcrae, I have not seen the Temple Grandin movie yet, but have ordered it from Amazon and am excited to watch it. My son has severe sensory issues that affect his feeding, sleeping, pain tolerance (as in he doesn't feel much pain, so he craves deep pressure). We use several of Temple Grandin's suggestions with the compression vest and weighted blankets to help him, but they are not enough. We are still figuring things out working with his Occupational Therapist as well as Autism therapists. Sometimes I wonder if his symptoms are just autism, or if they are from the 4q deletion. A lot of parents with Autism say that their kids had learned things and then regressed... that never happened with my son, he just has been delayed from the beginning and while he may learn a new word here and there, we have to keep teaching it to him over and over again. I am so sorry for the loss of your daughter and am thankful that you are still in this community to answer questions and walk others through this diagnosis. While our geneticist has not diagnosed Owen with 4q deletion syndrome, as she said there is no research on 4q22.1 and did not even look at his results until we were in the room, I feel that this is what is behind my son's autism, sensory issues, acid reflux, etc... it just makes perfect sense when I read the description!! I would love to know more about the doctors that you were working with and find a way to work with a doctor that will not just shrug off my son's condition! Thank you so much for your response! Happy Thanksgiving! Danielle

'Morning Danielle I was wondering what services you have - it sounds like you are well onto supports and strategies and know how to access information...you are clearly meant to be the mother of this particular child! Have you seen the information pamphlets from Unigue re 4q deletions online? I found these interesting to read even if the deletion and descriptions were not an exact match to that of our daughter's - they are close to the mark. As for the doctors...it seems this is a rare deletion, with research and information only in the last few years, and that each child presents differently...the doctor just don't have all the information. In our situation, we did not have a diagnosis until Jane was about about 21. We suspected a genetic condition but nothing was found in testing until she was part of the research project. The diagnosis was most important for as us in that it confirmed that her condition was not hereditary and would not affect her sisters' decisions re having children. Our youngest daughter's response to this information was interesting and had me in tears...'but Mom, I wouldn't mind to have a child like Jane...I love her." As your son, she had huge sensory issues - a high pain tolerance, wrapping her tight in a blanket was calming, she startled or cried at noise or tuned it out. Her low tone was immediately obvious and she suffered from reflux. She also had self stimming behaviors such as flapping. I am happy for all of you that your son is able to speak - communication was for us the most challenging issue...well, along with sleep! Does your son appear to have good vision? What do you mean that the vest etc are not enough? to calm him? As for remaining part of a community...through the early years of our daughter's life we wandered in the wilderness, so to speak. With no diagnosis, information or awareness of other children like her...we could only work to figure out what was best for her and for us. We felt she must have a genetic condition, that she must be the only one like her, and with no name for it we would just say she had 'Jane Syndrome'. I find now that it is good for me to have more information and to share our experience, if it would support a research process or support another family, somehow adds further meaning to her life. Please contact me at cmcrae2@telus.net

hi I am Cristina's mother Alice, now born Feb. 23 with interstitial deletion of the long arm of chromosome 4, you know something about this syndrome? I am Brazilian and I'm here to find someone who is experiencing the same situation as me and my husband with our little Alice.

Hello All, My boy is 2 1/2 years older now. We just found out that he has 4q 35.2 deletion. We don't know it we passed it onto him or he is just a unique case. We are awaiting to see a geneticist. He is not walking independently yet. He crawls , cruises, and walks well with one hand held. He is not talking either, only makes babbling sounds. He is over all developmentally delayed. He is not eating by himself and still drinks from the bottle. Anyone here has a child that is around the same age? Like I said, we just found out about this. We are still doing research on this and trying to understand it. Any advise would be helpful, anything... Thanks.