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Bat_Ish_Crazy
member
Sti.ckler Synd.rome
Bat_Ish_Crazy
member
Hello again! I'm just popping in to provide an update on my DD. We discovered when she was about 15m that she was showing abnormal bone growth - skeletal dysplasia. The changes in her bone growth are consistent with what you might expect to see in a person with spondyloe.piphyseal dysplasia. Nothing about her growth points to that, though ... her physical appearance is reminiscent of hypoch.ondroplasia & that is where I have focused a lot of my reading.
We were able to meet with a doctor in Houston (we live in the DFW area) who specializes in skeletal dysplasias. The doctors up here could not provide a diagnoses & we do not want to continue putting off expanding our family while we watch and wait for another year or longer.
The specialist we saw thinks our DD may have Sti.ckler Synd.rome. It is caused by a mutation on the same gene as several types of dwar.fism (spondyloe.piphyseal dysplasia, achon/hypochon.drogenesis, knie.st dysplasia, etc) ... but with each we would expect her to have fallen off the growth charts before now. While she is quite small, she is still on the average height growth charts. The doctor drew some blood to sequence the gene, COL2A1. It's one gene responsible for type 2 collagen production.
Any other mom's here with experience with Sti.ckler?
** Please ignore the randomly placed "."s throughout ... I do not want to be easily found on a google search. **
Me: 28, DH: 33
Conceived DD in <1yr w/o assistance
TTC#2 since 11/2013
DX: PCOS
Benched pending conf of Rubella immunity
Next Cycle: CLOMID round 1
This discussion has been closed.
Re: Sti.ckler Synd.rome
When we met with genetics, they thought our daughter may have had Stickler because of some issues with connective tissue that she was experiencing. However, we have done two blood tests and both came back negative. She may still have it, but insurance won't pay for the third test unless we explore other options, so we are going next week to meet with genetics again.
I know that probably isn't that helpful, but I just wanted to offer our experience. Good luck!
Thank you! DD has seen another geneticist & an orthopedist closer to home that both wouldn't put any opinion out there at all. They just wanted to watch her bones grow & "she would show herself eventually." I'm glad to have an experienced doc with an opinion behind us now ... but it's probably a good idea for me to have a reminder that having the blood drawn doesn't mean we have our answer.
What other possibilities does the insurance company want you to consider before doing the third test for SS? If DDs blood draw comes back negative, we will have to wait a year & do more xrays to see if her bones tell us a little more.
Me: 28, DH: 33
Conceived DD in <1yr w/o assistance
TTC#2 since 11/2013
DX: PCOS
Benched pending conf of Rubella immunity
Next Cycle: CLOMID round 1
Well, we didn't attempt the third blood draw. Our genetic counselor told us that she didn't think they would pay for it. However, like I said, we are meeting with them on Thursday and will have results (hopefully) from our MRI on Wednesday for them to look at. We switched our doctor because this one that we are meeting with on Thursday is supposed to be an "expert" on Stickler.
Our daughter has a couple "red flags" that made them suspect Stickler, although they said that she doesn't "look" like a child with Stickler. She has thin retinas and thick dermis/skin. Since these are both connective tissue things, that is why we tested.
I think they want to eliminate other things before they explore further, but we will find out this week! I am very anxious about the appointments! One of the hardest things to do, is wait and see, which is what seems to be a popular opinion amongst doctors that I've found.
Me: 28, DH: 33
Conceived DD in <1yr w/o assistance
TTC#2 since 11/2013
DX: PCOS
Benched pending conf of Rubella immunity
Next Cycle: CLOMID round 1
Do your children have hearing loss?
I was googling one of Nate deletions (1p33) and found SS typeIV. He has the mid-face hypoplasia, micrognathia, sensoineural hearing loss and a thickened retinas. He is one the short side for height but proportional.
I am going to ask the geneticist and ophthalmologist if this is one possible diagnosis for him. It is possible that one of his deletions only slightly affects the SS gene COL9A2....It would be nice to meet another community of people who have children with similar issues. Right now Nate is considered a SWAN or "syndrome without a name".
We had DDs hearing tested a couple of months ago because she was not really talking ... The ENT said her hearing was within the normal range. I still sometimes think she has trouble understanding & planned to repeat the hearing test in a few months for peace of mind already.
I'm curious to hear what your docs say when you ask about this. I haven't done much reading about COL9A2 ... we are testing for mutations on COL2A1. Has your DS ever had any xrays? If he has, did they notice any abnormalities in his bone growth?
Me: 28, DH: 33
Conceived DD in <1yr w/o assistance
TTC#2 since 11/2013
DX: PCOS
Benched pending conf of Rubella immunity
Next Cycle: CLOMID round 1
Yes we do have abnormalities in bone growth. He had a HUGE HUGE fontanelle and he has a shortened first metacarpel, producing 'a short and thumb' (whatever that means) according to a bone scan done in the NICU. They sent the disk off to a skeletal specialist, but we never heard anything besides that. We were told he was missing a rib, but this is not in the radiologists report on the bone scan so we sort of think they may have confused us with someone else? He also has a couple of bumps on his sternum towards the end, but I googled this and found that it is sort of a typical thing?
The last section of his fingers ARE really short IMO and his thumb is sort of wonky looking...The geneticist says it looks more link a finger than a thumb. We are seeing a hand specialist/ surgeon early April to take a look at the thumbs. They have always been adducted(folded in) during gross motor tasks like reaching above his head and crawling. I suspect that he has a tendon that is not attached properly. He has good use of the thumbs while seated and doing small tasks....
You should consider testing again. The hearing test in the hospital is just a screening and does not test all frequencies. This is especially true if you already have hearing loss in the immediate family. If your little one is still young you could have an ABR done really easily while she sleeps in the carseat.... Insurance should cover this because of the family history....
DDs 2nd toe on both feet is shorter than the 3rd. It's something I've never seen before & was one of the things that really made me feel inclined to start asking questions about her growth. The first geneticist we saw said it is the metatarsal that is short & gives the appearance of a shorter toe.
When DD had her skeletal survey, the radiologist report said the bones showed skeletal dysplasia concerning for spondyloepiphyseal dysplasia or achondroplasia. Of course, if you know anything about dwarfism, these two types are on opposite ends of the spectrum, so that was pretty confusing for me. This new geneticist essentially said that SS results in VERY MILD spondyloepiphyseal dysplasia.
They found short/flat vertebral bodies, flattened acetabular roofs, short radius/humerus/femur/tibia, flared metaphyses, and short iliac bones.
Me: 28, DH: 33
Conceived DD in <1yr w/o assistance
TTC#2 since 11/2013
DX: PCOS
Benched pending conf of Rubella immunity
Next Cycle: CLOMID round 1