Anyone have a baby with a skeletal dysplasia? *updated*

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Anyone have a baby with a skeletal dysplasia? *updated*

Postby DebD » Sat Dec 20, 2008 2:39 pm

We found out 2 weeks ago during our anatomy scan that our son Ethan has a skeletal dysplasia.

His legs are measuring 4 weeks behind and his femur bones are severely bowed on both sides and his tib/fib are slightly bowed. His arms are measuring 7-10 days behind in size but are otherwise normal. We had an amnio done at the time. The first peri we saw told us she thought it was fatal so we spent the first 2 weeks thinking our baby was going to die.

We just saw another peri 2 days ago and after a repeat scan they are finding nothing wrong with his skull, spine, heart, or any other part of his body not already mentioned so we are now being told it is most likely not fatal. There are many skeletal dysplasias and they have a lot of overlap in symptoms so they cannot give us a diagnosis at this point.

The testing for downs and the trisomys came back negative. The cells they grew from the amnio are done growing and they sent them to 3 different labs across the country for molecular genetic testing. The differential diagnosis at this point includes the following:

Thanatophoric dysplasia (lethal form of dwarfism) - most likely diagnosis from the 1st peri but not likely at this point since he is not showing the common symptoms of this disorder
Achondroplasia (most common form of dwarfism) - not likely due to the symptoms but still possible
Hypophosphatasia (metabolic disorder that affects an enzyme in the bones) - not sure about the likelihood because it varies widely between cases
Osteogenesis Imperfecta Type II (lethal form of brittle bone disease) - this has since been dropped by the 2nd peri
Osteogenesis Imperfecta Type III (brittle bone disease) - the 2nd peri thinks this is most likely but we are really hoping she is wrong. It doesn't look good.

There is a chance that all of these tests will come back negative and we just won't know what Ethan has. We are also going to Cincinnati Childrens for an xray of the baby so they can get a better look at his leg bones. He moves so much during the u/s they have a hard time pinning down measurements. The genetic counselor is also sending our u/s photos to a group that specializes in skeletal dysplasias at Cedars Sinai so they can give an opinion just in case we do not get answers from the genetic testing.

Have any of you had children or know anyone that has with any of these disorders or any other skeletal dysplasia? We have hope now that we know our baby will most likely survive this but we are still very nervous about the long term prognosis and what kind of life he will have.

Any info you have would be very much appreciated.
Last edited by DebD on Fri Aug 14, 2009 9:38 pm, edited 1 time in total.
Debbie - 32
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Ethan diagnosed with Osteogenesis Imperfecta (brittle bones) type III or IV by DNA
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Postby dixiechicken » Sat Dec 20, 2008 4:27 pm

My heart goes out to you! I don't have any information, but I just wanted to send you a hug. :hugs: I hope you get some more definitive answers soon.
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Re: Anyone have a baby with a skeletal dysplasia?

Postby SMCMomofTwoBoys » Sat Dec 20, 2008 6:58 pm

DebD wrote:Osteogenesis Imperfecta Type III (brittle bone disease) - the 2nd peri thinks this is most likely but we are really hoping she is wrong. It doesn't look good.

.


my cousins have this as does their mother. (Thats where they got it, its often genetic). the mother was symptomless (no broken bones), one of the two girls was perfectly normal and living a normal life until she started breaking bones at age 10 (that was when they figured out what she had and the family was tested). She is still alive, but unfortunately has spent most of her life in and out of nursing homes with broken bones. Her older sister also has the disease (same exact kind) and has had very few issues - except some jaw issues. she has made the decision not to have children though (she's 39 now) and did recently get married and is doing great. the younger one (she's 35 now) is now living with her sister, who helps care for her. she still breaks bones and has a very tough life. Basically, you can have two people who have this disease and have a mild or severe case.

is the baby showing any sign of any broken bones in utero?

I'm so sorry you are going through this. My heart goes out to you and I hope your little boy is ok!
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Postby DebD » Sat Dec 20, 2008 7:26 pm

He is not currently showing any fractures on ultrasound. This is one of the reasons the peri is just not sure what he has but she still thinks OI Type 3 is more likely. Not sure why. A friend of ours also knows someone who had OI type 3 and this baby showed obvious fractures on ultrasound.

Thanks for responding. Most of what I read about OI Type 3 was all bad. I didn't find much of anything that gave me hope. I didn't realize that this problem as well has a wide variety of severity. Neither my husband nor myself have a family history of any problems like this but we realize it is possible that one or both of us are carriers of the gene mutation.
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Postby victoria_1024 » Sun Dec 21, 2008 9:29 am

Deb, still thinking of you... I don't have any knowledge about skeletal dysplasia at all, but wanted to mention that genetic disorders can occur without a family history or without the parents carrying the gene. My husband has marfan's syndrome which is a genetic disorder, our baby has a 50% chance of also having marfan's. But nobody in DH's family has marfan's, there's no history of it whatsoever. Doctors say it was just a random gene mutation, there's like a 1 in 20,000 chance of it happening, but it happened!

Obviously your doctors will do testing to figure out exactly what's wrong, but I wanted to bring it up just because you guys aren't *necessarily* carriers of anything, meaning you could have other children later on and they won't have any form of skeletal dysplasia. DH's siblings don't have marfans, it was truly random.

Anyway, sorry that was a bit off topic. But genetic disorders can be so stressful in planning for a family (I know it was for us) and I just wanted to share that with you. :hugs:
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Postby DebD » Sun Dec 21, 2008 1:22 pm

Thanks. The genetic counselor went over all of the ways these things can happen and some are autosomal dominant which can be because of a de novo gene mutation and some are recessive inheritance and some can happen either way. I get them all mixed up as far as which one can happen which way.

At this point my brain feels like it has been flooded with things that I never should have needed to know but I am forced to deal with.
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Postby sominspecial231 » Sat Dec 27, 2008 8:04 am

i don't have any info for you either...i just wanted to let you know that I'm praying for you and your little one..I'm so sorry that you have to deal with this kind of thing..but remember god doesn't give you more then you can handle!!.. :hugs:
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Postby momtosix » Wed Dec 31, 2008 8:12 am

I am praying for you and your baby.i hope everything will be fine,.


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Postby DebD » Mon Jan 12, 2009 11:12 am

We received a diagnosis today. The genetic test results were positive for Osteogenesis Imperfecta. The actual mutated gene is one that is present in both types III and IV. IV tends to be less severe than III but either way it really depends on the child because the severity levels tend to vary from one child to the next regardless of type. We can only hope that he presents with a moderate case at birth and with treatments and surgeries he will live a fairly normal life.
Debbie - 32
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Postby ashand888 » Mon Jan 12, 2009 11:47 am

Deb- Thinking of you and praying for your little boy! I have a friend who has OI type 3. She is now 27 years old and has a wonderful quality of life- she is married and expecting her first child in a few months! She did have a rough go when she was younger and had many surgeries to place rods in her back and was in the first grade class that my mom taught and was in a body cast for part of the year, but I think typically the bones do tend to get stronger as they get older and now she can be very active (she is a runner!!!) and you'd never know anything was wrong by looking at her or interacting with her. I think it's typically a better prognosis if it's diagnosed early too, so you definitely have that in your favor (10 years ago many kids weren't diagnosed until after birth or even as toddlers). Keep us posted and lots of prayers going your way!
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Postby DebD » Mon Jan 12, 2009 2:29 pm

Thanks Ashlee. That is a very uplifting story. The severity levels do vary and there are treatments available now that weren't around even 10 years ago so we can only hope our little guy will do just as well.
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Postby kdsrdms » Mon Jan 12, 2009 2:38 pm

Hey Debd - I'm a lurker...

I was watching Extreme Makeover Home Edition last night and they did a house for a family with a little boy who has OI. He was the MOST PRECIOUS little guy. He was 8 years old.... just the sweetest thing ever.

Anyway... I thought of you and prayed for your family. I can't even pretend to know what it's like to face hearing that news, then to move forward with learning as much as you possibly can, but I did want you to know that there is another mommy out there praying for you.
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Postby Heather32 » Wed Jan 21, 2009 2:12 pm

Deb...I am lurking but I just want to let you know that My BFF and her 2 children all have OI (i am not sure which type) and they all live fairly normal lives. While my BFF tends to break pretty easily...her son has a middling tendency.. my god daughter is 8 and has only had 3 broken bones...I am praying that your dear baby is also one with a milder case...My BFF says it is way different now how they treat people with OI compared to when she was growing up and how even her cousin in CA was treated compared to how she has been treated...So they are learning new things everyday...
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Postby DebD » Fri Aug 14, 2009 9:37 pm

I thought I would update this thread just in case someone comes along and finds themselves in a similar situation.

Ethan was born on 4/6/09 with multiple healed/healing fractures as well as a few new ones from the birth (by c-section). He was in the NICU for 11 days and then was able to come home with us. He has had a few fractures since then with his last one at 6 weeks old. He is currently receiving bisphosphonate infusions that help to strengthen his bones. We are also waiting to hear from Montreal Shriners to see if he will be accepted as a patient there. From what we understand this is the place to go if you have OI. They are the best!

He is 4 months old now and he is doing well. He is a happy baby and already he has taught me so much. I don't think I can even properly express the love I have for this little boy. I am in awe of him. When he smiles I melt completely. He is my first child though so most mommies probably feel this way but I just have to gush about what joy he has brought to our lives.

Ethan is on the small side weighing in at 11 lbs and 24 in at 4 months. He is doing well developmentally but due to muscle tone issues he will most likely be delayed in some areas. He meets with a PT 3 x month to hopefully keep him as close as possible to reaching milestones on time. We do daily PT using the recommendations from his therapist. He will need rodding surgery for his leg bones when he starts to pull to a stand since his are quite bowed and we know it is only a matter of time before he fractures again. We are dealing with each issue as it comes.

I remember when I first posted that I felt so lost and heartbroken. I had no idea what was going to happen and I was very scared for my baby. I am now the proud mama of a terrific baby boy and I think he is perfect in every way.

Here are some photos of my little man.

In the NICU
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1 month old (the diaper is size 1 because of his legs - he kept them drawn up)
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2 months old (this was his last fx - tibia)
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3 months old
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4 months old
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Debbie - 32
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Ethan diagnosed with Osteogenesis Imperfecta (brittle bones) type III or IV by DNA
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Postby fuel1316 » Fri Aug 14, 2009 9:53 pm

i love the pics. hes just a sweetheart. im glad youve been updating this. i know i havnt been around on the other boards :? cookie has had alot going on lately.. i should jump on an update everyone

im glad thats hes getting strong and getting some PT. and yay for no recent fractures!! your doing such a great job momma
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