Skeletal Dysplasia But Not

16 Replies
Mommy2anangel - October 23

I experienced a miscarriage on 9/29/19. We went in for our level 2 ultrasound to find out our baby’s gender. After a ..less than perfect pregnancy (hyperemesis causing me to lose 26 pounds, anxiety, etc) we felt like finally we had a positive, we could focus our energy to painting baby’s room. As first time parents, we didn’t find it odd that the ultrasound tech spent over an hour looking at our baby, we thought she just couldn’t find baby’s gender. It wasn’t until the high risk doctor came in and told us he had bad new that it hit us. We found out that our baby was a sweet little girl, and also that she apparently had skeletal dysphasia (a form of dwarfism), and that she was in heart failure due to this (her rib cages weren’t growing, which in turn was not allowing her heart & lungs room to grow). At this time, we were hoping for a miracle, knowing that it didn’t matter to us what our sweet baby looked like, we would love her unconditionally regardless. The doctor suggested an amnio, which we did at that time. The doctor then told us that the condition was lethal and our baby had no chance of survival. If our sweet girl survived the pregnancy, she would pass within hours of birth due to her not being able to breathe. We were beyond devastated, how could this happen to us? I spent the next 2 days crying, wanting our sweet baby to survive so we could meet her, but knowing that if she did, she would suffer for the short time she was with us. 2 days after the ultrasound, we went in for a follow up appointment with regular OB and they could not find her heartbeat, an ultrasound confirmed that our baby went to heaven. I had to deliver her, and we spent hours holding her, remembering her every feature. I would strongly suggest this to mom’s of angels.. I will never forget her hands, feet, ears, nose, mouth, etc… She was truly perfect and I think about her little features constantly. Moving forward, the amnio came back normal. We went to a Geneticist. She shared that in her opinion, our sweet girl does not have skeletal dysphasia, her bones are normal sized.in fact, she went as far to say that she had no reason to believe that she had SD. Just to be certain, her xrays were sent to California to a SD specialty group. The results will not be in for at least two months. We are scared of the results. What are the chances that this will happen again? We would love to be parents. To make our sweet baby a big sister, but mentally, don’t feel like we could handle not being able to keep another baby. has anyone been through anything like this? Any insight would be greatly appreciated.....

 

destiny_sr - October 29

Dear Mommy2anangel, My heart goes out to you. I know exactly what you are going through. Our baby was diagnosed with lethal skeletal dysplasia in 2010 and the second opinion we took also came back with the same results. We terminated the little boy at 23 weeks. I have an older son and was looking forward to having a sibling for him....needless to say I was heartbroken. We sent the baby's body to a genetic specialist and were informed that it was a one off or sporadic situation. Today I am 18 weeks into my 3rd pregnancy and have an ultrasound in 10 days time. I am praying really really hard that this baby has no anomalies and that all will go well.....And as you say, I don't think I can bear losing another baby as well. I will pray that all goes well for you and that you have a beautiful healthy baby soon!

 

Mommy2anangel - October 29

Dear destiny_sr, thank you for replying.. So your angel did end up having SD? This is what concerns me, I held ours, saw her limbs, saw her xrays.She didn't appear to have it at all, then after the geneticist agreed.my thought pattern changed.. I don't know what could have caused her pa__sing. Maybe she did have SD and it just wasn't clear to the untrained eye. I wish the results would come back faster and hope that ours was also a sporadic situation. Congratulations on your new pregnancy! I will be praying for you & your sweet baby, I hope that all goes well and your sweet baby is healthy! Maybe one day I'll be posting on this site saying I am expecting a healthy baby!

 

destiny_sr - November 1

I will wait and pray for you Mommy2anangel.....if the amnio was normal, your baby is probably ok.....stay positive.

 

Mommy2anangel - November 12

Hey Destiny, how did your appointment go?

 

destiny_sr - November 12

Thankfully all is well with this baby! I am soooooooooooo relieved! I am in my 20th week now. How far along are you now?

 

Mommy2anangel - November 12

YAY!! I am so happy for you!! I am not pregnant. I lost Aubrey 7 weeks ago. we are waiting for results from the SD group in California before we even try again... I'll let you know when I hear, it will be a few months from now

 

destiny_sr - November 12

Well, now you can plan without fear in your heart. Skeletal dysplasia usually does not strike twice, if it was sporadic the first time!

 

Mommy2anangel - January 22

Destiny- how are things going in your pregnancy?

 

destiny_sr - January 22

Dear Mommy2anangel......Things are so far so good......in week 31 now. Feeling the normal aches and pains of pregnancy. How are you doing? Did you get back the reports from California?

 

Mommy2anangel - January 23

Oh wow! Time has pa__sed quickly! I am doing okay- we are still waiting on the reports... I am very nervous still about it... Aubrey's due date is coming up... February 20th... I was hoping we would get the results before then..

 

little_ethan - February 7

Hey everyone, I was looking up some things on skeletal dysplasia and found this forum. I would like to be the bearer of good news. I had my baby Jan.31,2012. He was diagnosed with hydrops at 27 weeks and we did every test known to man to find the cause, with no results. Having had polyhydramnios I recommend not getting an amnio since it put me into labour due to the tenseness of my abdominal muscles at 31 weeks. If you have made it that far and are high risk you have to do a birth anyways, so I'd recommend just seeing how things pan out. I'm not religious but my little guy held strong so who was I to say otherwise. He made it through the false labour and hung on to his c-section date. I didn't even know what skeletal dysplasia was until he was nearly a year and diagnosed with rickets. He was at CHEO (sick kids) for a month and is followed by nearly every specialist. He had his fitst birthday on Jan 31. If that helps at all for a pregnant woman I am satisfied. I understand what you are going through and nothing is the same, but you know as a parent. I wish you the best of luck with your pregnancies! You are not alone and feel free to contact me or anyone I am sure.

 

Nichola and maddys Mum - February 18

hi , my little girl Madison who is 4 years at 1year of age had been diagnosed with skeletal displasia, but a rare form ,they dont have a name for her yet , her trunk is too small for her torso, she isnt un well ,just un balanced until she grows more and we learn ,more what i thought was fasinating was the fact that you had polyhydromnios, as well , i have no idea why this has happened to my little girl ,and i wonder weither it was because of having polyhydromnios, and i also had obstetrics colistasis(liver issues). my first daughter Nichola was still born due to Amniotic Banding, and i wonder if this is also something to do with polyhydromnios.Im just looking for answers I may never find , would like another baby but scared same will happen.

 

little_ethan - February 18

Hi, I'm sorry to hear you had a stillbirth, no one should have to go through that. Polyhydramnios is not the cause of problems in pregnancy, but rather a diagnostic symptom of a fetal development problem, however major or minor it may be. Essentially your body is naturally swelling in reaction to the abnormal fetus. It sounds as though your miscarriage wasyour first pregnancy...at what point did that happen in the pregnancy?I have no experience with amniotic banding but i will look into it. If it makes you feel any better your body isaware of whats going on and that baby miscarried because it would not have been viable. On that note your daughter is with you because she is a very strong little girl. If you've ever looked into skeletal dysplasia most children don't live past the first year, so take comfort in that she's beaten most odds. As far as you having more children, this is a genetic disease,and if its that rareyou and your husband are most likely both carriers of it. Although you don't show signs and possibly your family history doesn't either, you will have a 25% chance of pa__sing it onto any children. Basically it is a risk you can choose to take, my first boy was perfectly normal. Genetic diseases are all about percentages, and to me 25% was too high to try for a third, but really if you can prepare yourself then take the chance. Your experience is different than mine in that you'vehad 2 problems in pregnancy and only one child. I'msure you want a sibling for her so all i want to do is give you the risk factors so you both can make that decission. Since, as you mentioned, there's no specific name yet, would you be willing to give me some of the signs and symptoms, even history because I'mresearching a lot into this. I hope maybe it could help you find a direction to look with doctors. When it comes to skeletal formation i think its important to deal with diagnosis and treatment of symptoms as soon as possible. Thanks and good luck,

 

little_ethan - February 18

Hi, I'm sorry to hear you had a stillbirth, no one should have to go through that. Polyhydramnios is not the cause of problems in pregnancy, but rather a diagnostic symptom of a fetal development problem, however major or minor it may be. Essentially your body is naturally swelling in reaction to the abnormal fetus. It sounds as though your miscarriage wasyour first pregnancy...at what point did that happen in the pregnancy?I have no experience with amniotic banding but i will look into it. If it makes you feel any better your body isaware of whats going on and that baby miscarried because it would not have been viable. On that note your daughter is with you because she is a very strong little girl. If you've ever looked into skeletal dysplasia most children don't live past the first year, so take comfort in that she's beaten most odds. As far as you having more children, this is a genetic disease,and if its that rareyou and your husband are most likely both carriers of it. Although you don't show signs and possibly your family history doesn't either, you will have a 25% chance of pa__sing it onto any children. Basically it is a risk you can choose to take, my first boy was perfectly normal. Genetic diseases are all about percentages, and to me 25% was too high to try for a third, but really if you can prepare yourself then take the chance. Your experience is different than mine in that you'vehad 2 problems in pregnancy and only one child. I'msure you want a sibling for her so all i want to do is give you the risk factors so you both can make that decission. Since, as you mentioned, there's no specific name yet, would you be willing to give me some of the signs and symptoms, even history because I'mresearching a lot into this. I hope maybe it could help you find a direction to look with doctors. When it comes to skeletal formation i think its important to deal with diagnosis and treatment of symptoms as soon as possible. Thanks and good luck,

 

Nichola and maddys Mum - February 19

they didnt discover my polyhydromnios or my obstetrics colistasis until the end of my pregnancy , they did 2 gestational diabetes checks through my pregnancy because of my size, but there was no positive to having the condition( a year ago(2012) i discovered i have polysistic ovary syndrom,which hormones are effected by insulin issues ect) , they just presumed madison was average size then on delivery day they said 9 pound easily , but she was 6pound 13 ounces the rest of my size was the polyhydromnios .her soft spot started just above her eyebrow and was crooked on an angle all the way back to her crown(this did not close over until she was 3 +) , her left fontanel was larger and seperated and stuck out as if it didnt join with the other 3 sections , with physio from 4 weeks of age this went back into place but her head is still uneven in that section, madison will be 4 in a month her size is, bottom size 1 waist size 00 and her shirts size 2 except they are tight on her stomach. Her stomach is more like size 3. we saw a genetic specialist and they declared she was healthy and we wouldnt know more until she had grown.she has skeletal displasia physically and not a problem with her organs. but she does have a bossed forhead which is fairly normal,and when i say normal i mean not life threatening . madison has only really grown properly in the last year at 2years of age she was 7 and half kgs she is now 13kg .there was a stage where across 3 months she only put on 200grams this was when she was one and a half .she has very weak stomach muscles , and has never used them , only using her legs and upper body strength.so her stomach is large.she is prone to respiratory, urinary tract infections though she has been well for the last 6 months.they have booked us into the genetics specialist again because it has been 2 years since last visit . the genetics specialist only visit approx twice a year and because she is healthy ,she isnt a high priority to them.they dont have a name for her type of displasia as they have never had anyone like her before and i think the only thing they though might be effected was reproduction organs and there being room for them. its frustrating to get from the doctors, "i dont know we will keep checking her and doing physio etc".but i try to be positive as nothing has been life threatening except the febrile seizures she had when very little but she has grown out of them ,like they said she would, thats also a fairly common thing .we continue to work on her stomach muscles with weekly physio apps and all the exercises we do at home.her rib cage creeps up a little and her shoulders roll because of her large stomach.i have moved my pediatrician app forward a month as i noticed her stomach being a little larger and i would like another ultrasound to be sure.the physio has been helping with her balance , as you could imagine she is a little top heavy. Now for my first pregnancy that ended at 22 weeks gestation, as it was my first pregnancy i Knew nothing , the hospital booked me for an app at 17 weeks had a look on monitor all fine , then at 22 weeks i had an ultrasound where we discovered there was no heart beat.immediately the ultrasound technition could see the amniotic bands , doctor had heard of condition but never seen it.. amniotic Banding is when , a piece of fibrous material comes away from the sack and the amniotic fluid forms it in a way to become rubber band like .in most cases even though it is rare , they will find one band and this can cut of circulation to a limb or amputate digits. but my little girl had large ones and lots of them .i had read an article in the that's life or take 5 mags a year ago where they operated on a baby in the womb to remove a band.But my girl had a band that wrapped around her torso, ribs ,neck and skull as she grew it crushed her ,she lost fingers and toes also. They say they can form practically over night from no where. they have no reason why this happens just another mystery. they presumed it would'nt happen again as it was even more rare to have it in consecutive pregnancy , but i researched and it had happened twice in one case i had read.Luckly my second pregnancy didn't turn out the same. they don't think that my first pregnancy was related to any of my condition in my second pregnancy,put maybe polyhydromnios can cause more issue then research has to offer so far.when i gave birth she was beautiful but was disfigure but her face untouched.Sorry it was her 6th anniversary last week and finding it hard to remember the exact words that were told to me is difficult. i would love to know more or that they have research and found more.we are very anxious about having more but genetic specialist have told us that we are compatable, though having polysistic overies and rarely having a cycle will make it difficult .But when making babies it can be out of our hand with the out come . Thank you so much for the information, as doctors only tell you what they think you should here.I'm thankful everyday for both my babies even though one of them could not be with me , i have know what it is like to deliver babies into this world and there are plenty of beautiful people out there that cant even experience pregnancy.look forward to an info you find for everyone not just me.will let you know how madison goes with her appointments . i

 

little_ethan - March 27

I am sorry Nicola and maddy`s mum. I am having troubles with this site and getting a response in. As far as your first baby, that is what a baby will do with no ability to survive, it`s actually a good thing she aborted (a hard thing to say, however, you as a parent of a disabled child should understand). Absolutely there was a problem and nature took its course. Now, skeletal dysplasia, as I have found needs constant monitoring. Are you followed properly by specialists or her paediatrician? We have encountered recently after he became a year old, and decreased a laxative (due to lack of abdominal muscle), he began having bowel movements with white chalky or powdery substances. My thought is that the lack of absorption in the bones from the dysplasia results in a build up of calcium in the body and hence gall or kidney stones. If you have encountered this or anything like this I`d love to hear about it. Thank you, Andrea

 

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