Osteogenesis Imperfecta

Ashlee Chapple

I found out today that my son has a skeletol abnormality called Osteogenesis Imperfecta, also known as brittle bones. The doctor ive been seeing is supposed to be an expert in these things but he admitted to me that usually if they dont know what something is, he googles it. so thats what i did. He told me their was nothing that can be done to help my son but i looked up some information and their really is help for babys like him. they have foundations for them and everything.

Has anyone else gotten news about something like this? It would be great to have other moms to talk to and relate to..

GoBadgers

What type of OI is it??? THere are many different types.   You should call a genetic counselor.  Does your state have parent to parent?  Parent to Parent can hook you up with other families, genetic counselors usually can too. 

 

What state are you in???

 

I really don't think the doctor you are seeing is an expert in this.. .you need to see a geneticist...

 

Was this confirmed on amnio via molecular testing?  It could also be someother things too that are in the differential for OI. 

Ashlee Chapple

The only thing this doctor did for me was a level 2 ultrasound. He told me i would have to wait until he is born to find out exactly what type of OI it is and he didnt think we should do other tests because their were an extensive amount of things to test for but he deffinetly has OI. I asked him if their were any other possibilities of tings he could have and he said yes but this is what he thought it was and he wouldnt give me any information about anything else. I live in central new york, the doctor i seen is in Syracuse. He told me he thinks its type 2. But he has nothing to base it off of its just his guess so i dont know.

GoBadgers

Ashlee, I'm so sorry.  If he thinks that your baby has type II OI then there must be multiple fractures he is seeing on ultrasound. 

This does not sound right to leave you "hanging" in this sort of situation.  I dont know how much you've googled or read, but type II is not good.  Your baby needs a birth plan, you need a plan.  you need to see a specialist and to get more information.  I'm a genetic counselor so I may feel differently about what is best, but it seems that providing you with information would be best.  Furthermore, I would strongly consider trying to do molecular analysis via an amniocentesis to try to confirm what he is seeing.  One would think you would want to know for sure.  Otherwise testing could  be done on cord blood upon birth, but it would be most helpful if this was arranged ahead of time and everyone knew what kind of tubes were needed, etc.  Furthermore, consideration of banking DNA upon birth would be a good idea, as you and your family may have questions down the road.  "THINKING" the baby has type II is not good enough information for you.  You need to be given options to decide if you want to learn what type it is. 

 

Please go here:  https://www.nsgc.org/FindaGeneticCounselor/FindaGeneticCounselorbyUSZipCode/tabid/69/Default.aspx

 

Looks like there are 4 genetic counselors in the Syracuse region that are listed.  Either a pediatric or prenatal counselor would be helpful.  Call (or e-mail) and tell them your story and tell them you are looking for information and were hoping they could provide information on maybe another specialist to see for another opinion and that you heard it might be helpful to meet with a genetic counselor or geneticist. 

 

Ashlee Chapple

Someone my mom works with told her about Shriners hospital for children and my mom wants to get us in there but i also emailed someone from the website you told me about thank you so much for that. Also i dont think this doctor ive been seeing knows what he's talking about because last time i went out there he was telling me it was something else and he was going to pass away within the next month but its been over a month and hes doing just fine. everything looks perfect except for his arms and legs. the only thing thats leading him to beleive its OI is that his long bones are shorter than their supposed to be and his leg bones are a little bowed. he didnt see any fractures.

GoBadgers

Could consider hypophosphatasia...  there are two different types that present prenatally... a more rare kind (maybe more rare or just less reported or known) actually improves through the pregnancy....  I didn't really want to say it but (since you said it first) I dont think this guy knows what he is talking about either and that really scares me.  (not that I'm an expert but I have been involved in helping too many patients after they get incorrect info or not enough info, etc from someone that thinks they know genetics). 

 From what was seen on ultrasound, I would be much MORE hopeful than your little one having type II.  I dont even have any clue why he would think that if there were not fractures!!!!!  I think OI should still be in the differential, maybe a less severe case, and then it is just something to know about and to diagnose after birth. 

I can't think of any other differential diagnoses off the top of my head, I'm so glad you also e-mailed someone from the website and your mom is right, you def need to get in somewhere else.  You'll want to make sure that they can review your previous ultrasound reports from your doctor, so you'll need to ask that your doctor forward his ultrasound reports and consultations.  They may also request a CD of your previous ultrasounds. 

 I have been told  that there are some good support boards out there, that I know of one patient really benefited from, I think through yahoo???  Please don't give up until you get to someone who will advocate for you and get you answers...

I'll be thinking of you.  I'll see if I can figure out this private message thing, please feel free to private messageme. 

Ashlee Chapple

I sent you a private message but i dont know how you can tell when you have one or anything, but the person i emailed messaged me back and she's setting up an appointment for me to go see her thank you sooo soo much