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Son w/Chromosome 14q deltion

sandradee Message
30 Apr 2009, 01:39 PM

Hello, My name is Sandra and my son Nicholas was diagnosed with chromosome 14q deletion two months after birth. He is now 11 and has a number of problem areas such as developmental delay, hypotonia, uncontrolled seizures, ADHD, PDD, and severe behavioral issues and almost no impulse control. Some days, he is the most loving and affectionate child and others he is very violent. His violence does not only stem out to his caretakers but he inflicts it on himself as well. We have seen specialists all over OH & PA and have had very little luck with medication and therapy. My biggest fear is for his seizures as he has stopped breathing during 3 of them, having to be revived. The doctors had never experienced seizures like his (his longest was 4hours & 45mins.) lasting so long and medicine having no impact on them. The same is with his behavior. His fits cannot be stopped with antipsychotic medication. They only stop when he has gotten it all out of his system. I haven't really found anyone else with a child that has these severe behavior issues but if anyone out there has expereienced this or found successful treatment, I would love to hear from you. As for his delays, therapy has been amazing. I was told he would never crawl, never walk and never communicate when he was a baby. Through daily therapy sessions he has proven the doctors wrong on all accounts. His speech is still delayed but he can communicate what he needs. His reasoning skills are our biggests issues right now in school but the teachers and therapists are working very well with us and hopefully we will see some progress soon.
mommyshortstuff Message
1 Jul 2009, 08:53 PM

My daughter is three and was diagnosed with partial deletion of the long arm Chromosome 14. Thankfully her behavior has been great. She has developmental delays, heart condition, immunodifficency, and sculliosis. Not to mention all the hospitalizations we have had. She can pull to stand and cruise furniture but can't walk on her own yet. Do the doctors feel that the seizures may have triggered something in his brain that would cause him to act out? I couldn't imagine a four hour long seizure. I am so sorry you had to endure that. Does your son have a complete or partial deletion of 14q?
sandradee Message
2 Jul 2009, 10:16 AM

Nicholas only has a partial deletion. As for what cause the behavior, they are not 100% sure but Nicholas does have brain atrophy. We aren't sure if it's his disorder that is causing the atrophy or the seizures. He is missing most of his corpus collosum which means almost all the connectors from the right side to the left side of his brain are gone. When he has behaviors it's kind of like watching some one short circuit and with what is going on with his brain this makes sense. Don't give up on the walking with your daughter! We were told Nick never would walk and at 18 months he did. Now that was after intense PT but we made it happen. He has so much more in him then the doctors give him credit for and I'm sure your daughter is the same :)
coltman Message
3 Sep 2009, 09:21 PM

Wow!! Reading all of your stories are amazing. I have a 10 year old little boy born with 14q deletion syndrome and he too is developmentally delayed with a severe seizure disorder. When I read about your son's seizures I was immediately drawn in. My son used to have seizures where he would stop breathing but grew out of them at about 1 year old. He is on Depakote now and was put on Trileptal last year as his seizures were not completely controlled. At about three months on the old and new meds our son had a seizure that lasted 45 minutes. Very scary. Our neurologist acted like he did not beleive us. He had another and again the same reaction. We switched to a new neurologist and she instructed us to up his dose of Diastat upon initial seizure as having a seizure that long was so devasting. We did as instructed and his seizure still lasted 45 minutes. When I read you say that there seemed to be no effect of additional medication, I was relieved as these doctors made me feel like I was crazy. I wish your son was not like mine, but feel relieved that I did not just imagine this. Anyway our neurologist added a third medication but asked us to give our son B-6 as these meds make children very aggressive and mean. He did not tolerate the meds and we have sinced weaned him back down to depakote alone. Do you think this could be your son's issue? My son is the kindest child, but on the medication he was not himself. Just a thought. I know as a mother you have tried everything as we all do everything we can for our children. Our son has had three neurologist since birth and only this new one has ever mentioned a b vitamin to help stabilize him. I would love to know more about all of your children and even see pictures. My son was hospitalized for the first 9 months of his life and they did a lot of experimental things that I think have actually made him more developmentally delayed than he would have been if we had had the right care early on as most of the children like mine that I have learned about are not as delayed as my son. I love seeing and hearing about any child with this disorder. It always gives me hope and encouragement to hear your stories. thank you for posting. Michelle
Rens Message
30 Sep 2009, 01:08 PM

Hi , My name is Ren and I have a nearly 6 year old daughter with a partial deletion of the 14th chromosome (14 q11.2q13). In reading each of your stories I have found some similarities and my heart goes out to all of you. Aliyah has lots of complex issues including agenesis of the corpus callossum, epilepsy (she requires resuscitation during seizures), bi-lateral vocal cord paralysis (which also causes her to stop breathing) and fluctuating muscle tone. Lately her behaviour is also an issue with her screaming for days on end. She also wakes several times a night (due both to uncontrolled movements and sleep apnoea). To fit her into a category- the doctors have labelled her as having Dyskinetic Cerebral Palsy (Dyskinesia is to do with uncontrolled movements and fluctuating muscle tone). She was in hospital for the first 3 months of her life (for her breathing) and was tube fed until she was 2 (she can now eat mash and drink from a bottle, but cannot do so independently). At 18 months she had her first seizure and required resuscitation. The doctors had never seen a seizure like it so it took them 7 months before they put her on anti-epileptics. In that time I was resuscitating her 1-18 times per day. Her first seizure med caused her to get pancreatitis and we were told she was going to die from multi organ failure. After 12 months they finally realized it was the medication and her meds were changed. Aliyah cannot speak, sit, crawl or walk. She was sitting and beginning to commando crawl when her seizures became worse and now she has lost that ability. Her muscle control is also worse- so even though she wants to sit her body doesnt allow it. Mentally- I am sure she understands and is close to her age, but physically she is like a 5-6 month old. We were told early on that Aliyah would never be mobile,see properly or feed herself- and although we still have hope (and are determined to give her every opportunity possible) we are only now coming to terms with the fact that this is probably true. Generally though, she is happy and smiley and loves contact and affection. Would love to hear more from all of you (and the exact locations of the deletions if you have that info).
sandradee Message
26 Aug 2010, 10:30 PM

Hi everyone, I'm so glad you all shared and so sorry I did not respond when you did. The email account I had this feed set up to send notifications to was hacked into so I no longer use it. I just came across this site again and wanted to reply. Hopefully you receive it. I completelly understand the frustration from the doctors. When Nick had his first grand mal they didn't believe me when I said it lasted 45 minutes. It had happened at night and never seeing one before I was not sure what to do. I took him to the doctor the next day and he looked at me like I was crazy. The next time it happened I called 911 and had him taken to emergency. This one lasted over 2 hours while they pumped him full of meds trying to stop it. From then on, if a seizure lasts longer than 5 minutes we go to the hospital as diastat has never worked. Nicholas' karyotype is 24.3-32.1 ~Sandra Thank you for the info on B-6. I have never heard that before but I will definately look into it. Nick can be so loving and affectionate but he has moments were he is just pure manic.
DJoyBailey Message
30 Jan 2016, 06:11 PM

Hello! I was glad to see this community listed when I joined! After reading through all of your stories, by heart goes out to all of you, and yet I also felt somewhat comforted to read such similarities. My daughter is 11 and has 14q11.2 deletion as well as a terminal duplication on 18p 11.32 - 18q12.1 (unbalanced translocation). She has Partial Agenesis of the Corpus Collosum, Septo-Optic Dysplasia, Epilepsy (started out as complex partial seizures and has recently changed into symptomatic generalized seizures), hypopituitarism, common variable immune deficiency, neuromuscular scoliosis (had 3 spinal surgeries included fusion from T2-L5 this last March), Epstein's anomaly, bicuspid aortic valve, slightly dilated aorta, VSD and ASD, born with a choledocal cyst which was removed along with her entire bile duct and gallbladder and reconnection of the small intestine so we have several GI issues, cyclic vomiting syndrome and severe developmental/intellectual delays. Some of her issues can be connected to her partial trisomy 18, but not everything and because there isn't a lot of information on chromosome 14, it makes me wonder if her deletion is more of the cause. It sounds like we all have some in common!