Anyone else's baby been diagnosed with rare chromosome disorder?

[Linny]

I found out a week ago that my 6 week old baby girl has a very rare chromosome disorder called Trisomy 9 Mosiac (T9M) I am in total shock still and trying to get my head around it all.

As it is extremely rare, there is no real idea how much this will affect my little girls life but she will most likely be delayed in most aspects of her learning and development.

I'm struggling to accept it and take it all in. I feel like I'm grieving for a child I thought I was having. Does that make sense?!

Anyone else?

 

[kit10grl]

hi, my DD also has a really rare genetic disorder. There arent any other parents on here at all with a LO with the same as tis so rare. She will proably also have a development delay forever.

I just wanted to say how your feeling is totally normal, the shock and confusion and the grief for the child you thought you were going to have. Its all totally normal. Take your time and feel thsoe emotions because they are very real and valid. Two years on and sometiems i still feel traces of that grief for the child i thought i would have. Most days though are much more positive. I totally love the child i do have even if its different to what i was expecting our lives are actually pretty good.

Once you are ready get yourself well read up on your LO's condition. Hunt out other parents in facebook groups etc I have found talking to other parents in the same boat even if they arent local helps lots. And i did find some parents 'locally' although its still about 60 miles away, we have met up a few times and things which was great. DD's condtion is very complicated and the doctors dont know much about it here so iread everything i could get my hands on and became the local expert and have pushed forward with many aspects of her care that they were dragging there feet on. But at the same time i was careful not to overwhelm myself and made a point of only taking on one new aspect of her condition at a time. For example I got her referred to immunology a year ago, endocrinolgy six months ago and neurology is a new clinic we are attedning just this week for the first time.

It will take time to adjust so dont feel you have to be on the ball about everything just yet. take time to be kind to yourself too.

Feel free to have a read of my blog (link in my sig) and it will hopefully give you an insight into how i was feeling when we were first diagnosed and how we have made progress since then.

x

 

[Bmama]

Hi there, we just found out that my quad screen results were abnormal for trisomy 18, so although I am not in the same boat I am feeling the same shock and confusion as you are. I have to have another blood test to confirm the results, but as of right now the odds for us aren't so good. I feel like I am grieving as well, and I am still trying to wrap my head around it.

to you, we will get through this!

 

[Linny]

hi, my DD also has a really rare genetic disorder. There arent any other parents on here at all with a LO with the same as tis so rare. She will proably also have a development delay forever.

I just wanted to say how your feeling is totally normal, the shock and confusion and the grief for the child you thought you were going to have. Its all totally normal. Take your time and feel thsoe emotions because they are very real and valid. Two years on and sometiems i still feel traces of that grief for the child i thought i would have. Most days though are much more positive. I totally love the child i do have even if its different to what i was expecting our lives are actually pretty good.

Once you are ready get yourself well read up on your LO's condition. Hunt out other parents in facebook groups etc I have found talking to other parents in the same boat even if they arent local helps lots. And i did find some parents 'locally' although its still about 60 miles away, we have met up a few times and things which was great. DD's condtion is very complicated and the doctors dont know much about it here so iread everything i could get my hands on and became the local expert and have pushed forward with many aspects of her care that they were dragging there feet on. But at the same time i was careful not to overwhelm myself and made a point of only taking on one new aspect of her condition at a time. For example I got her referred to immunology a year ago, endocrinolgy six months ago and neurology is a new clinic we are attedning just this week for the first time.

It will take time to adjust so dont feel you have to be on the ball about everything just yet. take time to be kind to yourself too.

Feel free to have a read of my blog (link in my sig) and it will hopefully give you an insight into how i was feeling when we were first diagnosed and how we have made progress since then.

x

Thank you so much for this response. I will defo read your blog. I think the hardest part to get my head around is that nothing was picked up whilst pregnant and I had a few extra growth scans due to gestational diabetes but it wasn't until 36 week scan they showed concern with her growth and at just over 37 weeks they arranged a section. I wasn't told they had any concerns with anything other than her size. I got a low risk for downs etc.

It's not even that she has a disorder. It's that there's not much known about it and the associated health problems that frighten me. They have a list of 'possible' problems that some children already suffer but I'm too scared to google in fear of scaring myself. What I do know is she has a VSD in her heart and a thickening of the artery to lungs but they are not worried too much at this point.What follows is all manner of tests and hospital appointments.

Anyway I'm hoping to join some FB groups when I'm 100% ready to face it. Thank you again x

 

[Linny]

Hi there, we just found out that my quad screen results were abnormal for trisomy 18, so although I am not in the same boat I am feeling the same shock and confusion as you are. I have to have another blood test to confirm the results, but as of right now the odds for us aren't so good. I feel like I am grieving as well, and I am still trying to wrap my head around it.

to you, we will get through this!

Oh hunni, I'm so sorry. I really hope these next set of bloods are more positive for you.

Big hugs, thinking of you x x

 

[kit10grl]

My DD had a VSD too as well as another heart problem. Her condition is a huge spectrum of things that are associated with it. Not all children have all the symptoms and in some rare cases people have gotten into adulthood withot realising they even have it where others are so seriously affected its picked up right away. I was terrified when i first started reading abotu all the things that could be wrong. Our doctors after realsiing she had a syndrome started doing tests to check for the other thigns associated pretty early on so we could get a list together of things that we were dealing with and that made it easier for me, i would get to a chpater in the really thick book i had and think ok she doesnt have that part of the syndrome therefore i dont need to read this one right now and skipped over it to te next relevant part. Until you start to feel ready it really is a case of trusting the doctors to guide you through the first few stages. And thats ok to do that while you get yourself ready to deal with it. Its perfectly fine to just take time to love on your LO and learn about what they need day to day just like any other mum has to, you might ned to learn slightly different things but its still the same process. We had to learn how to tube feed our DD as she physically couldnt eat when shewas born, eventually we learned how to pass her NG tube ourselves something that seemed terrifying the first time they suggested it became second nature to me so much so i could pass it while holding a conversation with my 2 year old about why he wasnt allowed chocolate for dinner. Most people watched me with a horrified look on their faces but it was just something i learned to do for my baby, just like i learned to change a nappy or bathe her.

I was really hard on myself to begin with because i felt i should know how to look aftr her as she was my second but it doesnt work like that every child is different and you learn what they need in time. Everyone wonders if they are doing it right, doing enough, feeling hopeless, thats just part of the normal momma guilt.

Feel free to ask any questions you have and i will try to answer best i can or im always open to listening to a vent aabout doctors and hospitals and friends and family who just dont get it.

 

[Linny]

I keep wondering if there's something I did while pregnant but truth is I'd never been so healthy. DD is our second and our first took a year to conceive. Was a breeze pregnancy wise and labour was natural and quick. She's now 3 and a ball of energy. DD2 wasn't a planned pregnancy but I was over the moon. My OH wasn't fully on board of having a second child but came round when I found out I was pregnant. There is a part of me that wonders if he will resent me when things become tough later down the line. I have some awful thoughts some days and I hate myself at those times. I'm filled with absolute love for her though, I don't want her to have to suffer all the tests that will be coming.

We have cardiologist next week and so I will hopefully understand that part more and she needs a brain, kidney and chest scan. I like the idea of looking into things when I know what she has so I don't overwhelm myself.

Do you ever get to a point when you don't wish things were different. I'm fine one minute then all of a sudden in struck by such a sadness that things have turned out this way. Why me? Why us??! X

 

[kit10grl]

I still feel that way some days to be honest. I thin k i have dealt with it all and then something will catch me out and i feel sad and wish things were different. But not in the way it sounds i never wish DD was different i just wish i could take away all the things that are hard for her, all the surgeries she has been through, all the injections and blood draws etc, and how hard learning the basics of growing up has been for her. There are upsides to that too though, every milestone she hits is a much bigger deal for us than it is for other parents, becasue she has had to work so hard to get there. Its different for everyone though, i have a friend whose twin boys also have a conditon and she is absoluty the most positive person ive ever met, she regrets nothing about her life with the boys and wouldnt change a thing. It just takes time to get there for everyone and you are still very new to this new life.

There is a short poem you should google. Its called 'Welcome to Holland' Some people i know have found it patronising to special needs parents but the first time i read it was just exactly the right moment for me. And from the way you are talking i think it might be helpful for you to read. I found it helpful for me in adjusting my view on how things had changed for us.

As far as your DH resenting you goes I'm sure it will be fine, I have found somedays my husband is actually more accepting of DD's extra needs than i am. He as a very typical man approach, he doesnt wish she was different ecause she is just robyn and she cant help how she is so we just get on with it.

With the cardiologist i will say dont expect them to over explain things, all heart doctors are fantastic with hearts but less good with actual people. They tend to keep descriptions short and technical. Take a notepad with any questions you want answered on it, write things down to google later and if you dont understand something push them to explain it. Also ask if your local hospital has a cardiac liasion service. (ours doesnt) however the local childrens hospital does so we phoen them if we have questions and they are always happy to explain terminology or procedures etc. Not sure where you are exactly but there is bound to be somewhere nearby ish that will have a liasion dept.

 

[ZubZub]

Hi! I am so sorry you are going through this. I don't know anything about Trisomy 9but I know that mosaic means that not every cell has the trisomy. Some "parts" will be affected but others won't be. I know different trisomies have very different characteristics but I wanted to encourage you with a bit about my experience anyway.

I have a daughter with DS. Our blood work came back fine so it was a great shock when she was born. We went through the same grieving that you are going through. The death of your expected hopes and dreams - I went through weeks of thinking I would never be happy again. My DH was angry and constantly pointed out people with "perfect" families. My LO was in the NICU for 3 weeks after birth - she inhaled merconium - and I remember thinking I wanted to run away and just leave her there. It was so hard in the first few months - she wouldn't feed and that six week smile took a lot longer. Actually, I remember it being hard but I can't really remember why anymore . That's a good thing, isn't it? She had open heart surgery at 4 months (VSD, PDA and mitral valve) and hasn't looked back since. The surgeons are amazing.

Good news. She is now nearly 5 and an absolute darling. We adore her - she is such a daddy's girl and has DH wound around her little finger. She has issues, but she also has positives. She is delayed but attends a mainstream pre-primary. She has character traits that I think should be compulsory in the general "normal" population. She thinks of others, she shares without being told, she loves to help (unpacks the dishwasher and puts away the dishes, sometimes even before it's run lol) and she is super enthusiastic about EVERYTHING. Compared to my 8-going-on-16 son, she is so easy!!

I know I have the benefit of hindsight, but it's going to be OK. You will both adore her because she is yours. I've stopped wishing things were different and love her for her. To us, our DD is normal. Your grieving will come to an end, but don't feel guilty for being sad or wishing she was different. One step at a time! XX

 

[Linny]

I still feel that way some days to be honest. I thin k i have dealt with it all and then something will catch me out and i feel sad and wish things were different. But not in the way it sounds i never wish DD was different i just wish i could take away all the things that are hard for her, all the surgeries she has been through, all the injections and blood draws etc, and how hard learning the basics of growing up has been for her. There are upsides to that too though, every milestone she hits is a much bigger deal for us than it is for other parents, becasue she has had to work so hard to get there. Its different for everyone though, i have a friend whose twin boys also have a conditon and she is absoluty the most positive person ive ever met, she regrets nothing about her life with the boys and wouldnt change a thing. It just takes time to get there for everyone and you are still very new to this new life.

There is a short poem you should google. Its called 'Welcome to Holland' Some people i know have found it patronising to special needs parents but the first time i read it was just exactly the right moment for me. And from the way you are talking i think it might be helpful for you to read. I found it helpful for me in adjusting my view on how things had changed for us.

As far as your DH resenting you goes I'm sure it will be fine, I have found somedays my husband is actually more accepting of DD's extra needs than i am. He as a very typical man approach, he doesnt wish she was different ecause she is just robyn and she cant help how she is so we just get on with it.

With the cardiologist i will say dont expect them to over explain things, all heart doctors are fantastic with hearts but less good with actual people. They tend to keep descriptions short and technical. Take a notepad with any questions you want answered on it, write things down to google later and if you dont understand something push them to explain it. Also ask if your local hospital has a cardiac liasion service. (ours doesnt) however the local childrens hospital does so we phoen them if we have questions and they are always happy to explain terminology or procedures etc. Not sure where you are exactly but there is bound to be somewhere nearby ish that will have a liasion dept.

Thank you. I actually googled T9M the evening after diagnosis and came across a blog about a little boy in New Zealand who has the same condition. I learnt so much from reading that (even though I know every child with her condition is different) She copied the 'welcome to holland' to one of her blogs and it did actually help. Once I start properly down this road I might not feel the same about it, but it was nice to read just now.

Thanks for the tips, I'm hoping my sister will be able to come to appointment in case I miss something (she's also a nurse)

I'm in Leeds, I have no idea what services I will have access to. I didn't even think to ask the doctors name though I know I won't be seeing him in particular on a regular basis. I'm yet to be referred to another hospital in which we will be assigned a community pediatrician. Ugh it's all so new, I wish I'd have asked more questions at the time!!

Thanks again x x

 

[Linny]

Hi! I am so sorry you are going through this. I don't know anything about Trisomy 9but I know that mosaic means that not every cell has the trisomy. Some "parts" will be affected but others won't be. I know different trisomies have very different characteristics but I wanted to encourage you with a bit about my experience anyway.

I have a daughter with DS. Our blood work came back fine so it was a great shock when she was born. We went through the same grieving that you are going through. The death of your expected hopes and dreams - I went through weeks of thinking I would never be happy again. My DH was angry and constantly pointed out people with "perfect" families. My LO was in the NICU for 3 weeks after birth - she inhaled merconium - and I remember thinking I wanted to run away and just leave her there. It was so hard in the first few months - she wouldn't feed and that six week smile took a lot longer. Actually, I remember it being hard but I can't really remember why anymore . That's a good thing, isn't it? She had open heart surgery at 4 months (VSD, PDA and mitral valve) and hasn't looked back since. The surgeons are amazing.

Good news. She is now nearly 5 and an absolute darling. We adore her - she is such a daddy's girl and has DH wound around her little finger. She has issues, but she also has positives. She is delayed but attends a mainstream pre-primary. She has character traits that I think should be compulsory in the general "normal" population. She thinks of others, she shares without being told, she loves to help (unpacks the dishwasher and puts away the dishes, sometimes even before it's run lol) and she is super enthusiastic about EVERYTHING. Compared to my 8-going-on-16 son, she is so easy!!

I know I have the benefit of hindsight, but it's going to be OK. You will both adore her because she is yours. I've stopped wishing things were different and love her for her. To us, our DD is normal. Your grieving will come to an end, but don't feel guilty for being sad or wishing she was different. One step at a time! XX

Thanks for replying. The doctor kind of explained the Mosiac aspect and from 50 cells in her blood only 3 had the extra chromosome. I thought that sounded good considering but he went onto explain that it had no bearing on how she will develop at all. That upsets me, having to wait and watch and wonder.

I joined a lovely FB group when pregnant and they are a great bunch of ladies but I somehow feel I don't fit the same. The lovely pics of there smiling babies does make me look at my girl and wish she was smiling too. I know she will though but it's those times I feel sad that things are so different for us.

I can relate to a lot of what you said in those early days so thank you for sharing your story x x

 

[HBGirl]

My DD was just diagnosed with 22q11DS. I can empathise with the anger. I am furious. Why does my DD have to be different? Why must she struggle? Why does she have a tracheostomy and glasses? Why?

Why do other people just get handed perfect babies and they whine about being kept awake at night. Do they know how lucky they are?

My DD is the most sublimely gorgeous creature in the world and it is not fair that she is afflicted.

 

[Linny]

My DD was just diagnosed with 22q11DS. I can empathise with the anger. I am furious. Why does my DD have to be different? Why must she struggle? Why does she have a tracheostomy and glasses? Why?

Why do other people just get handed perfect babies and they whine about being kept awake at night. Do they know how lucky they are?

My DD is the most sublimely gorgeous creature in the world and it is not fair that she is afflicted.

Thanks for sharing HBgirl, I'm sorry for what your having to go through. It's very hard to accept that your child not only is very different to others but the health implications that come with these disorders. I don't want her to suffer. I'm still waiting for referrals and results of tests done and it's really annoying that these things take so much time.

I was told 6 weeks ago then sent away with an info booklet and that's it. No follow up for 3 more weeks and trying to get my head around it all is proving impossible!

Some days I want to crawl out of my skin and let someone else deal with it all. She is such a lovely baby, and I wouldn't swap her for the world but I'm scared for her future. I just want the normal worries...! Are there any FB groups you can join? I found a fabulous one specifically for those with same condition and it's been such a wonderful support! X x

 

[HBGirl]

I have searched but can't find much to be honest. She presents in such a different way (no cardiac or facial issues) that it is hard to find support.

 

[kit10grl]

I have searched but can't find much to be honest. She presents in such a different way (no cardiac or facial issues) that it is hard to find support.

Hi, not sure how much info you were given by your doctors but you might get on better by searching for DiGeorge Syndrome/sequence groups rather than using the 22q11 to search. (sorry if you have done this already but we found our doctors utterly useless in the beginning and gave us no info at all)

Another option for help might be to look into CHARGE syndrome, they are very similar for a lot of symptoms, I have spoken to several people with DiGeorge who were incorrectly diagnosed with CHARGE and vice versa as they have so many characteristics in common. The CHARGE community is super supportive and open and would be happy to give advice and support even if you dont technically fit. The advice on how to cope or manage with the symptoms would be the same regardless of the official diagnosis. There are lots of mummies with kids with trachs and glasses for example. And almost all of our kids (including DD) have colobomas to hugely differing degrees. Robyn has a very large one in one eye but we seem to be lucky in that her functional vision assessment has shown she has really good working vision and the coloboma istn effecting her greatly

 

[HBGirl]

I have searched but can't find much to be honest. She presents in such a different way (no cardiac or facial issues) that it is hard to find support.

Hi, not sure how much info you were given by your doctors but you might get on better by searching for DiGeorge Syndrome/sequence groups rather than using the 22q11 to search. (sorry if you have done this already but we found our doctors utterly useless in the beginning and gave us no info at all)

Another option for help might be to look into CHARGE syndrome, they are very similar for a lot of symptoms, I have spoken to several people with DiGeorge who were incorrectly diagnosed with CHARGE and vice versa as they have so many characteristics in common. The CHARGE community is super supportive and open and would be happy to give advice and support even if you dont technically fit. The advice on how to cope or manage with the symptoms would be the same regardless of the official diagnosis. There are lots of mummies with kids with trachs and glasses for example. And almost all of our kids (including DD) have colobomas to hugely differing degrees. Robyn has a very large one in one eye but we seem to be lucky in that her functional vision assessment has shown she has really good working vision and the coloboma istn effecting her greatly

Thanks for this, I will look into that.

I searched 22q, DiGeorge and VCFS. Not really much on FB. I have, however, searched blogs, both by parents and individuals. That helped hugely. Still not much info on people as mildly affected as my DD.

All this diagnosis has done is help me to switch tack. Be more aware of things like anxiety and depression so I am hyper vigilant of DD's emotional state and ready to cuddle at the first sign of distress etc.

I will definately take your advice, thank you.

(sorry for the threadjack OP)