Grandson has deletion a Chromosome 4q22.1

Marcia - posted on 06/12/2012 ( 12 moms have responded )

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He is having a number of other tests at the moment..he is a 2 year old
boy who was adopted by my daughter and son in law. Currently he
is wearing size 12 M clothes, is walking and running, but not talking,
is very happy and alert, but has some behavior problems. If anyone
has a child with the same issue, I would appreciate some advice. I am
new to this group and want to get educated to support my daughter and her family. I think support groups are such a wonderful idea.

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Isis - posted on 12/08/2012

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Hello,



We just found out that our 2 year old daughter has a 4q22.1 deletion. She has been thru physical therapy and occupational therapy since she was 2 months old as she has history of developmental delay and hypotonia. She also had to wear a helmet for several months to correct the severe asymmetry that she had of her skull bones. She is our fourth child so we noticed she was not meeting her milestones as she was supposed to. After having a surgery to correct her apnea, finding out she has an arachnoid cyst, fighting with her reflux and severe unexplained allergies and many studies for starring episodes, we decided to take her to the geneticist to find answers to our concerns. That was when we found out about her deletion. Finally things started to make sense. However, now we struggle with the wait of getting our results back in order to have a family conference where we will be discussing what to expect. Our daughter is currently taking speech therapy as she is severely delayed with communication and is about to start occupational therapy again and we've been told that for now, she won't be able to attend a regular school. Even though she is a loving, social little girl, Neurologist recommends to test her for autism and we just don't know what to expect from now on. She has also been diagnosed with mixed receptive expressive language disorder. We have so many questions and were wondering if this deletion falls under the 4q deletion syndrome diagnosis and what's in store for us and for her in the years to come. If anyone has already gone thru this part of the process and has a child with the same deletion, we would love to hear and learn from your experience.

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Tracey - posted on 12/18/2013

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Hi, don't know if you are aware there is a Facebook group with just over 200 members world wide who support each other with chromosome 4q deletion in common (Usually they have a child with the condition) The group is 4q deletion

User - posted on 06/04/2013

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Hi:
Thanks for all of your responses, time sure flies. An update...grandson has been progressing, but slowly. About every six weeks he runs a low grade fever and complains his teeth hurt. He is now 3 years old, wearing size 18 month cloths, with the waist too big. He is a bit OCD in my opinion, he now attends a special preschool for special needs kids, where he learning to speak, quite garbeled, but he is speaking 3 word sentances. He tends to be moody...when you tell him now, he lowers his head and pouts (very funny) but not quite the normal. As I visit about every 6 weeks, I can see a definite improvment each visit. He loves to eat, but does not seem to gain wait. Our family is very healthy...we all eat Paleo, and the kids kind of do, but have tortillas and bread. Grandson is allergice to eggs and tree nuts. So overall he is doing well, and could catch up, but his size is a bit concerning. Any suggestions or comments appreciated.

User - posted on 12/09/2012

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Hi All you Dear Mom:



Sorry I have not communicated in a while...life is just zooming. Anyway, regarding our now

almost 3 year old grandson. The doc noticed that his neutrophils were 0 on a couple tests. They tested him every week for 8-9 weeks and discovered that he has cyclic neutropenia. Below is a definition from Genentics Home Reference website, as I am just learning about this.



"Cyclic neutropenia is a disorder that causes frequent infections and other health problems in affected individuals. People with this condition have recurrent episodes of neutropenia during which there is a shortage (deficiency) of neutrophils. Neutrophils are a type of white blood cell that plays a role in inflammation and in fighting infection. The episodes of neutropenia are apparent at birth or soon afterward. For most affected individuals, neutropenia recurs every 21 days and lasts about 3 to 5 days."



This is a one in a million diagnosis!!!!!!! This is the truth!



The articles state that the child is sick during these times of low neutrophils, but our grandson

has hardly been sick at all. But what happens is that during these low times, the body is fighting to keep the immune system working properly, therefore all our grandson's energy is

spent doing that and not allowing his body to grow. This is a very simplistic description. My

son in law, who is also a doc, is researching as he thinks there is another issue going on.. He says that any of us could have this chromosome deletion, but not know it and be perfectly fine.

They are considering checking into alternative doctors. Alternative medicine is really how docs practiced medicine in the 1950's before the drug companies took control of the med schools and had all those lobbyists. We have a friend who is an osteopathic MD, who believe that the body

can heal itself, if you find the cause, and not just the symptoms. There is a long road ahead,

God will provide the way and the faith to get through. Just as I am sure all of you have done the same. I will keep you all updated, I promise, as things progress. Thank you for all of you comments and support. I pray that God will give you all just enough of His Strength to get you through each day.

Isis - posted on 12/08/2012

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Hi:



I would love to hear how he has changed from the moment he was diagnosed until now... Has he improved? How have you been dealing with everything?

Danielle - posted on 10/23/2012

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Marcia,



I out of curiosity just googled my son's deletion. He also has a deletion on 4Q22.1 and has Autism. I would be happy to talk more about it. We found out about his deletion in 2010 (he is now 4 years old) and there were no other "known" deletions the same as his... or our geneticist didn't know where to look! If you still use this message board, I would love to hear from you!



Danielle

Katherine - posted on 07/07/2012

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hi Marcia, if you would like to take my email address, I have emailed you, to keep on file. It is all unknown territory, I just hope and pray that our little boy doesn't present with medical issues. To date his hearing and eyesight is spot on. We have an 18 yr old daughter (my step-daughter) she is extremely high functioning Aspergers. When my son started preschool at 2yrs old, three teachers approached me that day saying he was a very 'different' little boy. It was then that I started thinking he was possibly different. As he was my 3rd child and my only son, I didn't think he was that different it's funny how we as parents adapt to their needs and I didn't even see it. After this I suspected he may be Aspergers as well, but when we saw the paediatrician about a month ago he said NO to Aspergers, he said YES to Autism and ADHD. I was very surprised with this, in fact my husband and I barely uttered a word to each other on the way home. Whatever he is and your grandson they are unique little people, and I remind myself daily how lucky I am that he is in our lives. Babbling is good, as he is communicating his way, hopefully your little man will say words soon. Early intervention seems to be the key here I keep reading! Prayers for you and your family too, regards, kath

User - posted on 07/07/2012

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Hi Katherine:

I would like to keep in touch with you also. I don't have any more info at the moment, as our
grandson is having more tests, what I am not sure. But it is all very scary sounding, but so
the unknown is what is hard to live with. My faith in God is helping me deal with this, but I am
also very human. As I am a grandmother, I am not the one making decisions, etc, which I
find frustrating, but I need to let it go and let the parents parent. Anyway, you sound as though
you have been through a lot already. So much doctors don't know about. My grandson did have an appointment with the genetic specialist, but she is the one who requested more tests...as certain things did not "add" up. So please let's stay in touch. I will post when I have more news. Grandson is not even talking...just babbling, which social worker says is good. I will pray for you and your family, Katherine Davies.

Katherine - posted on 07/07/2012

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hi Marcia, I am new here and found your post. We have just received information stating that our 3 1/2 year old son has Chromosome deletion 4q22.1, an interstitial deletion. It has been quite a journey for me and we are yet to meet with Genetics Services to discuss further. Prior to this molecular karytype report, he was diagnosed with developmental delays and autism and ADHD. Your grandson sounds very similar to my son, fortunately he is coping much better as he is getting older and understanding things but at around 2 1/2yrs he was very hard work. A lot of melt downs, and anxieties and knowing how to manage him was very challenging. My son is verbal, has prosody of speech and does use echolalia at times. I have googled this latest information and really don't know what is in store for us. This is like a very large jigsaw puzzle, some things now make sense, he definitely processes information differently and we have a speech therapist on board and he sees occupational therapist this week. When born he had dusky episodes, which moved into choking episodes, and at 4 weeks old he had a barium swallow which concluded that mechanically everything was working fine. I had an angel care monitor for a few years, I was terrified he'd choke to death. A reflux baby, medicated with losec which I removed when he was 1 yr old. Numerous food intolerances, baby formula was hypo-allergenic and he craves carbs, will only eat a select type of food, very difficult with food. I stopped fighting with him a very long time ago with the food issues. he is a very intelligent little boy, counts up to 100, and backwards - knows his colours has done from very young. Sat up about a month later than my other children, walked around 14 months, talked basic words - nothing there for me to be alarmed at all. Recurrent ear infections, grometts at 16 months after this he talked a lot more. He is far better at understanding than he is communicating, and can be asked to do things and will do them. Has great rote memory. He is funny, charming, loving and he is learning to give and take with play. He takes turns at preschool on different things now whereas didn't used to at all, would just yell. He used to push, bite etc that isn't the case today. has no fear, which alarms me so we watch him all the time. Has low threshold for pain as well. HATES having his hair cut, is precious about his hair. Also has a stigma for hair, loves playing with his dads hair and rubbing his face in it! Would eat anything, sand, dirt etc still does occasionally. He does like routine, but he will cope doing different things. Used to line up toys lots, but since we moved him into the older preschool session he is less anxious and stressed so doesn't do that a lot now. With our diagnosis of this deletion, the result says: Imbalance of uncertain significant detected. !! We don't have any idea what this means, other than he may be a new case study. His karyotype is a 355kb deletion I don't even know if this is a large or small deletion. All my research has been on the computer. We received our results in the mail box, on a Saturday and I have had to wait 6 weeks to see a genetic counsellor for them to interpret these results. I have been sick with worry myself, as hadn't expected this. I have not been able to find another deletion the same as my boys, until I found yours!!! I hope we can keep in touch, this is unknown territory and frustrating with not knowing anything.

Katrina - posted on 06/13/2012

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Marcia -

Every State's early intervention program is different, but should allow at least the most basic of therapies. Your daughter should have a person to talk with and should be able to request further therapy services. At two, all of my children received at least 1x weekly therapy, and at times 2xweekly therapy. For speech. They all received speech, developmental, physical and occupational therapies as well as vision therapy and behavioral therapy.

I was an advocate within our state's early intervention program so I understand it isn't always easy to fight for the services your child needs, and they make it increasingly more difficult to receive more therapy as well.

At two, many behavioral problems are common for children who have developmental delays, both because of increasing ability to understand the world around them, as well as (sometimes) an increasing frustration with being unable to communicate. I would highly suggest working with a behavioral therapist, or consultant, if your state's early intervention program allows this, and if it doesn't see about finding who insurance would cover. During this phase it is important to put into place the techniques that will serve them as your grandson gets older. Behavioral therapy is best done in the home, but if you have to go to the office to do it so be it.

What other questions do you have? Happy to answer any questions I can.

Marcia - posted on 06/13/2012

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Hi Katrina:

Thanks for your great response. I will share a bit about our grandson, who was adopted in the US..he is a cute little 2 year old with red hair, So there is a lot we do not know about his father...like nothing...but this is where we are He was born 6 weeks premature, in NICU for
two weeks to learn to suck and breath at the same time, he struggled for quite a while. He
has had many tests done and all came back negative...except an earlier celiac which came
back on the high side. Not until his pediatrician got in touch with a genetic pediatrics doc did
they have this most recent test done that came back with the chromosome disorder. They have
ordered numerous of other tests for the little boy, but we are waiting the doctors orders to come through. J crawled late, didn't walk til he was 19 months (now he runs) his teeth didn't come in
until he was around 1 year old. He had been saying a few words...we would say...where is your
eyes, ears, etc, and now he doesn't seem to get that game. He used to say airplane when
he heard one overhead, and now he says something we cannot understand. He can use a bit of
baby sign language as I bought Baby Signing time for them. But when he gets frustrated or
disciplined he gets angry and goes into a snit (as I call it). He will throw a temper tantrum, which I know is normal, as we have 4 other grandchildren. But he will hit his head on the floor,
stand against the wall, head first...and seems very obsessed about a certain toy or object...
especially if taken away..and holds onto this "anger" a long time for a 2 year old. He is small..wearing size 12 month clothes,...he is allergic to eggs, wheat and tree nuts. But he
loves to eat all kinds of food, which he does. But he is smart...he smiles a lot, laughs a lot, can
play hand games with me, and flirts. Prior to this test he was diagnosed as developmentally delayed. So now if we can have a diagnosis, maybe we can have a game plan of how to
proceed and know what to expect. My daughter is part of her state's childhood early intervention program, so he has visits twice a month from a speech therapists and one other
therapist. But as a grandmother, I did not think this was enough...I wanted them to get
into a private behavioral specialist, which they had started to look into when they received
these test results. So there you have it...pretty much all I know. The biggest issue is how
to deal with discipline with him...as it seems he does not get actions and consequences...but
they are working on that. So if anyone has any suggestions regarding discipline please share. They also have a 3 year old daughter who was also adopted...same birth mother, but different father..and she is just fine...but his fits, etc disrupts the whole family...takes attention from from the little girl...getting everyone uptight, etc. So any suggestions would help. I know getting the other test results back will help...but any suggestions and if others have a child with this disorder.....what to expect in the future...is also a huge question for all of us. Thanks so much for all of you who contribute your time and energy to help others while dealing with your own
children and family. God Bless all of you...and thank you.

Katrina - posted on 06/12/2012

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Hey Marcia -

My guys all have one rare disorder, called Axenfeld Rieger Syndrome, and we're learning about a secondary rare disorder my youngest may have as well. I can understand a bit of where you guys are at in this journey.

A quick search online brought up this research paper that I thought you might appreciate having when/if you feel like reading up at some point in the future: http://www.rarechromo.co.uk/files/4q-%20...

Why don't you share just a little more about your grandson ... what delays specifically prompted the start of the testing? What kind of progress is he making ... is he making steady developmental progress or has he made gains and then plateaued?

Please ask questions ... being curious and wanting to help your daughter and her family are some of the best things you can do at this stage, speaking as a mom who wishes someone like you had been around when we were starting this journey.

Remember, also, sometimes helping means just being there, being present, in their lives, and giving your daughter and (if she's married) her husband some time to adjust to the diagnosis as well. Everyone deals with this diagnosis process differently, so just know that you aren't alone, and anything your daughter and her family might be feeling will be normal. {hugs} You're among a great group of folks here, though I'm new to the site, it seems many here are ready and willing to jump in with encouragement and information if possible.

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