15 known cases of goldberg and shprintzen syndrome.no answers.a mum still searching

my 14 yr old daughter is one of 15 in the world with this syndrome.i lost my eldest daughter aged 4 12 yrs ago due to complications related to this syndrome. doctors and specialists cant give me answers. i dont know where to turn. she has a centronuclear myopathy,syringomyelia,megacolon and so many other factors, please,can anybody give me any answers.her condition is worsening and i dont know what to do

[Dr. Kokil Mathur]

Hi

I am really sorry to learn about your daughter’s condition. You must know a lot about the syndrome. I am providing you with some links and addresses of places and doctors who are researching this syndrome or particular aspects of it. Maybe there can be some help from there.
Some research is being carried out at
Investigator of research project :  
Dr Nicola RAGGE
Department of Physiology, Anatomy and Genetics
University of Oxford (Le Gros Clark Building)
South Parks Road
OXFORD OX1 3QX
UNITED KINGDOM
More information
Phone  : [phone]
Fax  : [phone]

Contact secretary :
                       email


Try this link: http://clinicaltrials.gov/ct2/show/NCT00005102?term=shprintzen+syndrome&rank=1

Hope this helps. If you need more help, please feel free to contact. All the best!

[marialou]

hi
i cant thankyou enough,i feel so let down,everything i know about my daughter i have had to find out on my own.and im so glad i did.
she is now suffering from constipation and her stomach is really distended.i rang all the specialists up for advice today and not one of them got back to me.im taking her to my G.P first thing.my god it is so not the end of it.i will definitly be getting in touch with those contacts you gave me and i have also been looking into the link you sent as well.
i fear my daughter has megacolon/hirschbrungs disease,i know im not a doctor but my little girl i lost also had it and it is a related condition to her syndrome.
her lips looked slightly inkish blue when she went to bed.iv been checking on her and im panicking that it is to do with this bowel disease. would you know anything about this?
im truely grateful for your kindness and your help
with sincere thanks
lisa

[marialou]

hi,dr.nee been a long time and yet no answers altho i have followed all your advice...in a way....after years of searching i know i wont find answers anymore as there is none.typically....all i can say is ask alice brooks and ask her about FISH or GOSH and also about how she has underestimated life as we know it...jim lol. tell her she not heard the last of me and life as we know it

[Dr. Kokil Mathur]

I am so sorry, I do not know how to help you at all.

[cead]

Hi Marialou

My heart goes out to you. I know some of what you are going through (only differently).

Keep posting on the board.  Don't give up!

I hope someome reads your posts and hooks you up appropriately.  Maybe even a real live interested medical DOCTOR!!!  (Novel concept)

Along with the name of the syndrome I think you should also post the chromosome and genetic rearrangement info. not just the syndrome name.  I think people are searching by genetic rearrangement numbers these days, not the doctors' names for the syndromes.  Try both.  Personally, I liked it better when they named syndromes by the doctor's name and not the chromosome numbers.

All I can say is that NIH or NORD or someplace ought to put up a forum specifically for us parents of kids with rare chromosome rearangements.  Then, maybe some geneticist somewhere would actually read our posts and POSSIBLY be interested!!!

It is a shame and a travesty that children with such rare genetic rearrangements cannot get any medical help. But worse, that they cannot even get any doctor who is the slightest bit interested.

I am as frustrated as you at the lack of medical knowledge of our kids.  But moreover, the lack of medicla interest in studying our kids.  It is no wonder that they cannot tell newly diagnosed parents any information.  We parents seem to be our own best information source.  How sad is that in the 21st century of medicine!

To top it off, we cannot even get in to register at NORD to share any info unless we want to pay money to "join".   How absurd is that!  They should pay us.  They might have the NO but they dont have many RDs in the NORD.  Their  self-serving organization certainly does NOT help any of us!  And I think that we parents should let them know exactly how we feel about it and what we go through. Your post is a prime example of the TIP of the iceberg.

Just think of how much time and effort went into that entire human genome project and to think they only want to study "normal" (for lack of a better word) genotypes and phenotypes.  Maybe we should just save our knowledge and only give it to other parents.

Just my thoughts from another parent of a child with a rare chromo who is totally FRUSTATED by the medical community in general as it pertains to our rare kids.

Cead

[cead]

Dear Doctornee

Thank from me for helping marialou.  

thank you also from me, as an interested bystander,  for being the ONLY doctor who cared enough to even attemp to try to help marialou.

I hope your post will direct her to someone who can actually help.

I am assuming that you are an MD.  If so, you must be one doctor in a million who actuallly gives a darn

thanks

Cead

[marialou]

hi i just wish for the last 18 years every doctor and consultant and specialist my girls were under and still are would of been as honest as you and said, im so sorry,i do not know how to help you at all. coz they still dont but pretend they do, thats what makes it worse. thankyou for your honesty,truely lisa

[cead]

marialou,

there is someone else on this board recently who has a daughter with the same thing

cead

[Eveningsun]

Hello!  Soon yeah that would be nice...6 years of this.
Okay I do have a thryriod problem and take levothyroxine down to 25mg from 50mg.  My Sodium, Serum and TSH were considered on the LOW end. that was the lastest test.
I printed up my tracker for my doctor, decided to send her all of May and continued for June.  
Lol, on 1994 I had a car accident where my back did hurt but just like the scar on my nose...Fairfax Hospital in VA left me on the stretcher with my nose open and in excrusiating pain...but since I SMELLED like beer I must have been drinking it.  Never took blood test.  Ever since then for the longest time it didn't hurt.  I was like all the these symtoms (symptoms) crashed down on me all at ONE time!  The memory is not doing well either.
I had been under a mountain of stress and soon there after I noticed that I just feeling wasn't feeling up to par!
In 2003 I was going for a gall bladder removal.  I have low blood pressure and that freaked the nurses out and thought I needed to go to Trama...There I met a Cardiologist and after their load of test they came up with my irregluar heart beat.  The doc told me that "If you want to live another 10 years you have to cut out smoking."  So I quit in Feb 2004 after 36 years of such a nasty dirty habit.  ICK..
After many tests the doctor came up with Hep C...Did the 48 weeks of sticking myself and pills of hell.  The doctor then told me that I was CURED!  Come to find, no one is cured they are in remission. That was 2005-2006.  
Then one night at work I had to get up and walk to the ring phone...and I feel on my butt my whole right leg was numb and unresponsive.  It took what felt forever to get feeling back but probably 5 min. Then the next weekend I choose to go to the emergency room and while I was there it turned out that my heart was slowing up.  They kept me overnight and there was an incident and I had to get an emergeny pacemaker.  After the weekend the docs changed it to be inside me.  I weighed more back then, but now it's disgusting looking.  So now I can not have any MRI...only CT Scan.
Then 2008 I final got my gall bladder out, 2009 I had a couple of cysts extracted from my left arm pit.  
I was also diagnosed with Pulmanory Hypertension in 2003/4, but in 2010 new doctors didn't think the others were correct.
I have had ever since 2009 Tinnititus...I went to the ear,nose, throat doc and he said it was "normal for my ears to just gush with fluids" But gave me antibotics, finish that and it still hurt, but that doc said I couldn't have any more. And gave me some over the counter BS pills.
Now my memory is failing so damn fast.  My boyfriend accuses me of not paying attention and gets equally upset too.  I tell him I can't help it, and he just don't understand because he chose to not do what the doc told him to do and now refuses to go back for any corrections. So he has an arm that is so fragile that he can break it just by accidently hit it.
I now take 4 x 50mg Tramadol  I started with 1 but in 2006. 2 every 12 hours. 25 mg Levothyroxine, Lamictal150mg, 100mg Zoloft, 100 Gabpentin, and I do have other that are considered narcotic but only when the pain overcomes all my other pills.

And so now I have moved to Norh Carolina away from all those Spanish inquisition in VA...LOL This doc was looking Lupus..oh my...I looked under Dementia and I have symtoms (symptoms), MS I have symtoms (symptoms), one chirpractor said my spine was an "S", idk for sure.  I've talked to a fibromyalgia, but that's my problem Please look at my tracker too many symtoms (symptoms) to list here.

I'm hoping for a diagnosis - would be nice.

Please try to help or a suggestion, because I would really like to go on "Mystery Diagnosis".