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Vicky_p Message
15 Feb 2014, 06:34 AM

Hi, I wanted to ask if anyone has had experienced problems with their childs growth and development? My son has growth hormone deficiency and has been having some problems with processing at school. He also has some dyspraxic traits. I just wondered if anyone else has experienced any of these difficulties? thanks Vicky
LadaBL Message
15 Feb 2014, 04:21 PM

Dear Vicky, Growth delay apears to be very common. What is his phosphorus? Do you know his mutation? Children with OCRL mutation may have some cognitive issues. We are trying to expand our bone/phosphorus study to UK through Dr Scheinman. Lada
juuliedowns Message
17 Feb 2014, 11:08 PM

Mason had some pretty severe dyspraxia as a young child -- diagnosed as idiopathic Childhood Apraxia of Speech. Took several years of 5-days-a-week speech therapy to get him talking fairly normally. He still has a small "dysfluency", a sort of lisp.
Vicky_p Message
18 Feb 2014, 05:32 AM

Luke has no problems with speech and language, he tends to be quite clumsy and awkward when doing things, I always put this down to him being left handed but it hasn't improved as much as I thought it would. He is also struggling to processing information. He forgets things very easily and it seems to take a long time to get his ideas down on paper. I was sent an online screening to do and he does show slight signs of dyspraxia but nothing concrete. I think school are wantong to look into it further so they can support him more.Its so difficult at times as he seems to have so many "little things" and its something else he's got to deal with.
LadaBL Message
19 Feb 2014, 09:52 PM

I know how you feel Vicky. I have a daughter who had developmental delay, not specified. She had years of speech and occupational therapy. It is difficult but the positive is that therapy works. It does take more from you, that is a fact. GHD has been associated with Dent, I would say it likely has something to do with it. We don't yet understand how. The other "little things", I'm not sure. Hopefully we can get that survey going and we can find out how many kids had something similar, just to begin with. Right now we are waiting to see if we will get funded again for the next 5 years. Stay strong!
minu Message
20 Feb 2014, 04:43 AM

Hi Vicky. Answering your question, my adult son had no developmental problems but he did have GHD, and I was definitely told it was because of his kidney disease. We are all short at home so I was never concerned about his height in his early childhood. But then he hardly grew, if at all, from ages 10 to 12. His bone age (9), obtained by a simple hand X-ray when he was 12 years old, showed that he was 3 years delayed from his real age, so that he did have room to grow. So he took growth hormones from age 12 to 18. During these 6 years he grew slowly but steadily around 8 cms. per year (his feet grew quickly first and his shoe size is now size 12!). He is now 173 cms (around 5' 8" or 5'9" ), which is very tall in our family. According to an unrelated bone x-ray at age 18, it seems he still had some room to grow, but he stopped taking the growth hormone as he was very happy with his height and was tired of having shots 6 days a week, specially going away to university. We will never know how much he would have grown without taking the hormones. Again, a simple hand x-ray is all that is needed to know if there is room to grow or not. I have a short (healthy) daughter who had the test done twice, but her bone age turned out to be the same as her real age so nothing can be done about her height. With the x-ray, they examine the spacing between the bones of the fingers. The wider the gap, the more years' difference with the real age (room to grow) there is. Hope this info. helps.
kjsjd Message
12 Mar 2014, 07:59 PM

Hi Vicky Jamie has GHD and dyslexia. The endocrinologists seemed to think that the Dents and GHD weren't linked, but his renal team feel it is. He has just got up to the 50th centile on his GH which is fab news - when he started 2 yrs ago he was between the 2nd and 9th centiles, having been a v large baby - well above the 91st for the first few years of life. As for the dyslexia, Jamie has recently been seen by a child psychologist and has been found to have some cognitive processing problem with complex tasks and also impulsiveness as well as dyslexia. He can't multi-task or organise himself properly and has very little "working memory". We have to do lots of memory work with him. His renal team did put forward a hypothesis about a protein called ? megalin which is found in the kidney and the brain which could be defective. Not sure how this would/could be looked into. He did have to have speech therapy and still can;t say some consonants properly. - eg "ch" and "J". It's not fair is it? They have enough to contend with with the "big things" without these problems as well. He is a warm loving mischievious boy with a sense of humour who just needs to be strongly guided. We should organise another Dent's UK get together!! Email me - keep your chin up!!
LadaBL Message
13 Mar 2014, 02:18 AM

This is really interesting. Which mutation does Jamie have, do you now? Cognitive defects are potentially expected with Dent 2, but have not been reported in Dent 1. Perhaps it is present more than we think. Do you know the specific mutation? Lada
kjsjd Message
18 Mar 2014, 09:34 PM

Hi Lada Yes he's got Dent's 1: CLNC5 mutation (intron 2 acceptor site mutation - c.106-22_106-2delinsGGT) - hope that means something to you!!
epjfk Message
19 Mar 2014, 05:28 PM

Dent 1 seems to affect the growth somehow. Both my father and my son were late bloomers and were out of the mainstream for their age group up til the 9th grade. My son had a bone xray to determine if his bone growth matched his age. But he never took any medications to help him grow. (A private decision for each family) He was well below the average height for his age group up to the start of 9th grade. He is now 27 years old and 5' 10". I do not know the why of the slow growth in Dent 1 males but I hope further research will shed light on this.
LadaBL Message
19 Mar 2014, 06:17 PM

Kjsjd, Interesting that he also has Dent 1, since we really have no information on it. (only Dent2) Something to keep in consideration. Regarding growth in Dent, my hypothesis is that phosphorus has a role, since the treshold for phosphours absorption is higher in children, indicating higher need for phosphorus. I am hoping my FGF trial will shed some light on that. Next phase would be to do some bone studies for children. Lada
Vicky_p Message
23 Apr 2014, 07:15 PM

Hi everyone sorry for not getting back to the group. Thanks for all of your comments, it's reassuring to know that Luke is not alone with all of this. He is starting to catch up at school but he is having good and bad days. kjsjd I can't find your email address anywhere, feel free to email me and we'll sort out a time to catch up. Our boys seem to have so much in common it would be great for them to get to know each other. I just wish Luke's consultants would share more information Vicky
hamilt1 Message
21 Jan 2015, 10:06 PM

Hello, I am just reading through these...I just thought I would add as another data point that my son had dyspraxia traits too, and lots of problems with speech early on. He received a few years of speech and occupational therapy, and until I read these posts, I had forgotten about this. No problems with speech or dyspraxia now. Another similar feature I see here is that my son was a late bloomer and did not catch up height-wise until 9th grade, also. One thing that I noticed with my son early on was that he did not have the stamina of his peers. This, too, has disappeared. (He was motivated to keep up in sports!). Val
LadaBL Message
21 Jan 2015, 10:43 PM

Thanks for contributing! I was just talking to a mother who has a 12 year old boy who stopped growing and they were offering her growth hormone. I am not sure we know how it works in Dent. It is very interesting to know that some boys did grow, just later. It is also very interesting to hear that quite a few had dyspraxia and other difficulties in school. Definitely something to be aware and to do early intervention on. Very important to share information! I am guilty of neglecting this lately. Lada
Vicky_p Message
21 Jan 2015, 11:23 PM

Hi, My son has just been diagnosed with dysgraphia and possible sensory processing disorder. He's getting some help in school now and the growth hormone has really helped him. He's now 147cm and is aged 10 years 9 months. So we're really pleased with his progress. His doctors in the UK don't believe there is a link, but from the evidence here there is more than just a coincidence. I will share this information with them on our next appointment.
hamilt1 Message
21 Jan 2015, 11:59 PM

I have three children, one with Dent's. Both of my two children without Dent's are tall...medium to extra large framed. My son with Dent's is thin, small framed, and definetly grew at a different rate. For a frame of reference, my 12 year old is 5'10 and 170 pounds. My 15 year old with Dent's is 5'6 and 110 pounds. My son also had sensory processing disorder.
LadaBL Message
22 Jan 2015, 01:37 PM

I have the hypothesis that possibly Dent and Lowe patients don't get enough phosphorus in their bone as they hit the potential growth spurt (because they lose some through their kidney). One way to prove that is to show that the major hormone that causes release of phosphorus in the urine is below normal in Dent. So far 3/4 adult Dent patients in my study have it. Now I want to see if children (in particular) children in puberty have that as well. Growth hormone also increases phosphorus absorption in the kidney, and it's possible that that is the way it works. We don't know which effect it has on the bone of Dent kids. Lada
tieshiea Message
8 Apr 2015, 06:27 AM

My son Zander was dx with dents at 5 yrs. Now is 10.5 yrs. He is 4 ft tall my side.of family 8s short stature. His dad 6ft 8 inch. We started endocrinology and the hand xray. Awaiting MD to get back to me from Stanford University. He had been seen at Stanford for 5 yrs now and luckily dr.potter there was able to dx him early and her him on chlorthalidone. (Sp) which he has been on since.but with varying dosages. He is also skinny. His wt is 56 lbs finally and that has taken 3 yrs to get there. As far as po4 he takes 750mg bid. Neutral phos. 2000 units.vit d just restarted that last 3.months. daily. 80 me kcl 30 20 30 dose during day to combat chlorthaladone k wasting. Avg. K level is 3.3-3.5. Lab about every 3 months. Also takes a milo ride to kick up his k levels. I have Zander in the study, or at least I returned the papers and hopes his data helps research. My concern is the obvious future kid. Failure, and transplant if and when it comes to that for him, but his overall fitting in. Being so short does not help in school. To make learning an issue he.was a.late talker 3 years old to make a 5 word sentence. Now he won't shut it. But he has adhd, and that lack of concentration and taking care of his disease in his future worries me. He is well aware of all his med and the rationale for their continued use and dose changes. It seems as if.from reading other posts the correlation of growth and learning is a factor is this disease process. Zander mom T