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Here are some suggested organisations that offer expert advice on special needs.

Deletion on long arm of chromosome 14 .. er right ok!
22

ShinyHappyPeopleHoldingHands · 15/07/2008 22:28

On Saturday we got the long awaited "further results" of genetic tests done on blood taken from DS2 (8), DH and I that we had taken at geneticist's suggestion last year.

Prelim results showed some deletions that I had the same.. and there's clearly nowt wrong with me (well apart from the usual type of insanity!) so they wanted to send them back to lab to look for something peculiar to just DS. This was 3 months ago.

Now they have found a "small deletion on the long arm of Chromosome 14" which they are saying "likely to be the cause of his problems". (DS's problems are many and varied but include a dystonic cerebral palsy type problem.. can't walk/stand although is physcially strong.. developmental delay/mod - severe learning difficulties/epilepsy (well history of 2 huge status epilepticus episodes in 2005), ADHD, dairy allergy, hypothyroidism etc etc.. list does go on....)

She wants to see us in the local clnic "soon".

Is this likely to a A Diagnosis??!

Of what I wonder? Fairly extensive googling has uncovered something called "Chromosome 14q deletion syndrome" but it doesn't exactly describe DS.. I've seen other syndromes (that he clearly does not have) describe him better!

I am almost too tired to wonder much about all this.. hence 3 day delay before posting it on MN!

What think other folk?

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onlyjoking9329 · 15/07/2008 22:31

it all sounds very complex and i have nothing useful to say but i will gladly bump for somebody wiser.

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ShinyHappyPeopleHoldingHands · 15/07/2008 22:32

Thank you OJ honey. How are you?

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onlyjoking9329 · 15/07/2008 22:39

we are muddling throu thanks, we are going to take steves ashes to lanzarote on thursday.
so hows your something special boy?
and how are you coping with the test results?

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daffodill6 · 15/07/2008 22:41

Have a little experience of genetic imbalances - can be inherited or have to start somewhere. Effects are 2 fold - firstly in the child and then in any children they may have when older.

I think the term is genetic translocation ie a couple of genes are not where they should be.. but they are all there.

Sometimes effects are not seen in the child but the child may have a much greater risk of having a child with deformities ( depending upon which genes are affected and how badly)

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Tunicate · 16/07/2008 10:31

Have you found this group?

Unique

As the name of the support group suggests, one child with a Chromosome 14 deletion might actually have quite diffent challenges to another child with the same 'syndrome' depending on where and how much of the chromosome is deleted.

Contact a Family would also be worth getting in touch with as they cover a huge nubmer of rare conditions and provide a lot of the support that the small condition support groups can't on their own.

It does sound like you're about to get A Diagnosis

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ShinyHappyPeopleHoldingHands · 16/07/2008 11:39

Hi thanks.. yes been on Unique... on the disorder section I put in (chromosome) 14, (arm) q (long arm?) and deletion and got a long list of different disorders and stuff about "karotypes". I don't actually know what karotypes are so didn't really understand what I was looking at. I have emailed them to ask if I can join but was hoping to find lists of conditions that I could compare DS to.

Also had a look on CAF.

I have left a message for someome from the genetics department to get back to me. I am hoping that they will be able to give me some more info in advance of seeing the geneticist in clinic when she is next in our area - whenever that may be.

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jimjamshaslefttheyurt · 16/07/2008 17:15

karyotypes are just a chromosome spread. The chromosomes you have. You don't need to worry about karyotypes too much if you're interested in deletions.

The effect of a deletion will vary depending on exactly which bit of a gene is missing.

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caitlinnjacksmummy · 16/07/2008 18:56

Hey, my little man, 16mnths, has bn diagnosed as having a genetic disorder, although dunno the name, but in simple terms it means that during conception chromosome 6 attached itself to chromosome 12 and in this process chromosome 6 lost some of it's equalities....resulting in Jack's problems, severe, difficult to control epilepsy, hypotonia(v.low muscle tone) meaning he cannot sit up unaided and prob will not walk til 4 or 5 if at all, he can however slow commando crawl and roll and has global development delay(delayed development in all areas), so does anyone know anything more about this? We are all being tested for further investigations into this disorder as they dunno a lot about it , although it may not show up anything else (hopefully) or may Show up yet MORE problems? It is causing me great anxiety, my dd,7 is perfectly healthy, but from a prev relationship, and with current partner who is Jack's dad (bn together 6 years) I have obv had Jack and 3 miscarriages at stage Jack's probs have roughly occured in the womb, so consultant rckns defo a link

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FioFio · 16/07/2008 21:07

Message withdrawn

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ShinyHappyPeopleHoldingHands · 16/07/2008 22:35

Sorry FioFioFioFIOOOOOOO (said it manner od Ruby Ruby Ruby RUBY!).. I have no credit and can't put more on as changing to T Mobile (will be same number) and waiting for a text from them to say I can out my new SIM card in. (600 minutes and UNLIMITED texts for £20 a month! Good eh?! They are going to rue the day though.. they'll be bust within the month.. I'll be like Homer Simpson in an all-you0can-eat restaurant.. So Be Afraid!

So you don't think this is going to an actual diagnosis then? I'm not as fussed as I once was.. and of course I worry that a Diagnosis could equal Nasty Prognosis...

Whislt researching I have found some interesting info about NON epilpetic seizures and certain syndromes.. that'll be bloody right.. he'll have been on epilim and beating us senseless as a result for 3 years.. for no bloody reason!

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littleredcorvette · 16/07/2008 22:51

Josh's diagnosis - after having many, many tests, plus being told when he was in SCBU that his chromosomes were 'normal' - is:

'Partial Duplication of the Long Arm of Chromosome 4' and even the Geneticist couldn't tell us much about it, apart from it's extremely rare! We were also told that this was 'likely to be the cause of all of his problems - IUGR, Failure To Thrive, GDD, Hypotonia. When I asked her if it had a name she wrote on a piece of paper - Chromosomal anomaly (46XY DUP 4+Q ? 24 ? 25)

Since then he's also been diagnosed with Mild Cerebral Atrophy, Slight Heart Murmur, Nystagmus, and Epilepsy. One paed said he had Ataxic Cerebral Palsy but his other Paed disagreed

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FioFio · 18/07/2008 07:46

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mom2adriana · 03/10/2008 19:03

My 3 year old daughter was diagnosed with a deletion on the long arm of the 14th chromosome. If anyone would like to talk to me so we could either compare what we know or just for support please email me. minarikfamily7@hotmail.com

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SandyMom2Nick · 12/03/2009 19:34

Hi, My son is almost 11 and was diagnosed with a Chromosome 14q deletion. I have met with several doctors/specialist and done extensive research on this. If anyone that has a child affected by this would like to talk and compare stories, notes, needs support please feel free to contact me at scutlip@turningtechnologies.com

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SandyMom2Nick · 12/03/2009 19:34

Hi, My son is almost 11 and was diagnosed with a Chromosome 14q deletion. I have met with several doctors/specialist and done extensive research on this. If anyone that has a child affected by this would like to talk and compare stories, notes, needs support please feel free to contact me at scutlip@turningtechnologies.com

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Woooozle100 · 12/03/2009 20:42

we have duplication on 14q here - from band 31 to the end

shiny - wouldn't worry too much about nasty prognosis. We just got a big fat haven't got a clue so meant fa even as a diagnosis

unique are good. I can get some literature of their website and mail it to you if you like. Know that you are joining like.

Am amazed 3 people on here have 14q deletions. Think I might be mailing SandyMom (s'all the same chromosome an all - be interesting to see if anyone has same bit deleted we have duplicated)

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Keaginsmommie · 25/05/2012 06:13

Hi my baby boy has chromosome 14q and 18p partial deletion along with translocation of 14 to 18 we were told he was the only one there is like him have no answers we were also told he wouldn't live a month and if he did he would be a vegetable he is now 10 months and is doing lots of things he is a bit delayed in some areas but he is alive and well he still requires O2 24/7 if any one out there can help me begin to understand any of these disorders I would be so grateful I am at a loss and I'm afraid I am getting more and more depressed I have been so strong thru it all and still am I have hid alot of my feelings from my family and friends cause none of them understand what it's like to be a mother in my shoes I really need the support of people who can relate to me and my little angel Keagin thanks in advance to all who contact me my email is rweand@yahoo.com

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Lougle · 25/05/2012 06:42

Hi kaegin's mummy, this thread is an old one. If you start a new thread in this same section, you'll get better replies.

Unique is a site you can google also.

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StealthPolarBear · 25/05/2012 06:49

Just echoing Lougle - also you might want to contact MNHQ and ask them to delete that post (copy it first to paste into a new thread) as it has an email address in it - there is a private messaging system posters can use to contact you.
Good luck, I hope you get the answers you need. Glad to hear your little DS is defying the predictions!

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tressiegirl1999 · 22/07/2014 15:41

Hello everyone. I am new to this website and hope that the information I can offer will help you and your child. I have a daughter, Tressie. She was born on 4/22/99 and after genetic testing, was found to have a deletion of the 14th chromosome, on the long arm, band 23. We were told by the doctors then that they were unable to find any documented cases of this deletion, so we would have to just take it day by day and see how she progressed. She was born with a heart murmur, low body tone, re-flux to her kidneys, a large floppy bladder, hypothyroidism. When she was about 3, we discovered that she suffered from seizures. At the age of 5 she weighed only 26 pounds and a g-tube was placed for failure to thrive and aspiration problems. She had her first bowel obstruction with surgery in 2006 with the possibility of another sometime in her future, they said that 1 in 3 people will have another obstruction again in their lifetime. And she was developmentally and physically delayed. She could not walk, although she could scoot very fast. She could not talk, but was able to yell out and babble like a baby. Before her feeding tube was placed, she was always ill with something, her immunity was just so low. She had chronic ear infections with 3 sets of tubes placed. And always got pneumonia 2-3 times a year. In 2004, she had a fundleplication done to help prevent re-flux and that wrap lasted until 2009. In 2009, we noticed that she was having the re-flux symptoms again and a second surgery was done. With that surgery, she ended up in the hospital for 5 months, pancreatitis and pneumonia. Now, I know it is overwhelming, but please just read my entire entry before you get overwhelmed and just stop. On 8/15/2011, what we thought was a second bowel obstruction ended up being diagnosed as Rhabdomyosarcoma of the uterus (cancer). That was like a kick in my gut, after all we had gone through and over come, cancer!!! They are pretty sure that the Rhabdomyosarcoma is related to her genetic disorder. This type of cancer starts in the embryo stage before the child is even born. It is a soft tissue cancer and grows in the skeletal muscle. We started chemo immediately and the tumor showed good signs of shrinkage. She had a second bowel obstruction a couple months into chemo and had to have surgery, which delayed the treatments. About 4 months after the surgery, she had been on the chemo for about 3 months and had liver failure from the chemo, she almost died, but in her always genuine strength and will to live, pulled out of it. She could no longer have treatments, so we went home just to be together and hope for time. A month later, she had a third bowel obstruction and this time it cut off the blood supply to almost the entire bowel, so they had to remove most of it. She had to have a colostomy, yuck!!! And since there was very little bowel, she had to be fed with TPN through her veins. This was not a good thing for her liver, because the TPN causes more damage to the liver. She was in the hospital for 2 months and finally we decided that we needed to take her home and be together for whatever time we had left with her. We knew she was getting so tired and weak and that her little 70 pound body would not last very long. We were told that they thought her cancer had spread and we would have to wait for a few weeks to confirm it. I took her home and started hospice so that she would not be in any pain. My main thought was just to do whatever we had to for my child. She would be in charge and tell us what she wanted to do, whether it was to live or leave us and go to Heaven, it would be up to her. We would just love her and do what we needed to so that she was happy and comfortable. I had to deal with the fear and anxiety of watching my child die, and not make her see me upset. On 7/23/2012 the MRI showed that she had more than 10 small tumors in her liver, and they thought she had a tumor in the bladder/uterus area that they could not see. On 8/6/2012, Tressie passed away at 3:35 am with my husband and I by her side. It was the worst time of my life and I will never be the same again. She was 13 years old and she and I had a bond that evolved even what a normal child has with a parent. I know that you know the bond between a parent and a special needs child. Now, I know you are probably thinking how terrible for this child and mother. I have to say that going through the experience of having her and loving her was worth every second. I learned something from her everyday of her life. And, in this crazy day and time most people do not get to see or experience unconditional love. Everyone wants something. Tressie, she only wanted to be loved, and cared for and to watch her Sponge Bob shows, and go to school with her friends. And, even when I thought I could not change one more diaper, I got up and changed it. And when the diaper was changed, Tressie, in her usual fashion, would wrap her arms around my neck and give me a big hug and kiss. It made it all alright. Tressie needed me for everything, and we molded our lives around her and her needs. But, in the end of her life, I realized that I was the one who needed her more. In her 13 short years of life, she taught me many lessons, but the lesson that I learned in the last days of her life was to see the beauty, even in her death. I am dreading the 2 year mark of her passing next month, but I would not change one minute of our time together and I would walk every minute again with her if given the chance. Stay strong, I know how hard it can be at times, but our children with special needs are a blessing.

A very lucky mamma.

Deletion on long arm of chromosome 14 .. er right ok! Deletion on long arm of chromosome 14 .. er right ok! Deletion on long arm of chromosome 14 .. er right ok!
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beautifulgirls · 22/07/2014 21:53

Thank you for sharing your story Tressie and I am so sorry for the loss of your daughter. She sounds like an amazing little girl and you sound like a perfect family for her. Everything in life is an experience and things do not always make sense as to the reasons why, but there is good in every situation and I am glad you were able to share that with us despite the sad emotions that are there too.

I don't know, but suspect not as many people will read your post as you deserve here. The topic title is quite specific and many may not click on it after reading the title. It might be worth starting the post as a new thread.

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Sitoff · 23/07/2014 19:59

I can not begin to imagine the pain you feel losing your beautiful girl but I am inspired by your love for her that shines through from your post. What a hard journey you travelled together but what joy has come to you. Hold her in your heart.

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