Little Gems Story

Hi guys, I've been meaning to add my little girls story to this website for a few months now but really was not sure whether I should.. if it really fitted.. but I would like to share it and hopefully one day someone else that finds themselves in a position like this can see they are not alone.... The following story was published in a maganize called "Unique Rare chromsome disorder support group" in March 2010.

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Gemma Louise Burr DOB 17/11/09
Inv Dup Del of 8p

Written by Mother Nicola Burr, Bristol (UK)

As I write this I've got to admit it is still a bit of a shock that our little Gem is finally here with us after what seemed like the longest pregnacy ever.

Gemma's story begins when I was 16 weeks pregnat with her. I was just getting to the stage where I could relax a bit more, the morning sickness was disappearing, I started telling our friends we were expecting baby Burr number 4, I was getting a nice bump and craving olives. Sadly things changed when I had a small bleed. Myself and my husband were told to go to our local hospital, St Michaels in Bristol. By the time we got there the bleeding had stopped and I really was starting to feel like we were wasting their time being there. I answered the nurses questions and she reasured me that it didnt sound like I was having a miscarried but offered us a scan anyway. As well as being worried, I couldnt wait to see how our little bean was doing.

The scan started off really well, we were shown the baby's heart beat and told everything seems fine by a midwife who had a big grin on her face. Then everything changed, I saw her face drop and she seemed to be spending a long time looking in the same area and pushing down harder on my tummy to the point it actually started to hurt. She then informed us that it was the baby's brain she was looking at. At this point I think i stopped listening for a bit as everything seemed a blurr. She then went off to talk to a specialist while we were taken to a side room to wait. When she came back she explained that what she was seeing was extra fluid on our babys brain and that the cerebellum had not formed properly. She said it looked like our baby had spina bifida and that we had to return the next day to see the specialists in the fetal med unit to discuss our options. That night myself and my husband spent hours looking on the internet for all the information we could find on spina bifida. The specialist we saw the next day confirmed he was 95% sure it was spina bifida we were dealing with but could not find a brake on the baby's spine. We were offered an amniocentesis, a termination or to come back for regular scans to see how the baby was developping as it was still very early days. We choose the 3rd option as we knew there were risks with the amnio and from what we had learnt about spina bifida we know our baby still had a chance of leading a happy life.

When we got to week 19 the specialists were getting concerned that they still could not see a break in the spine. We started to get our hopes up that maybe they had been totally wrong about anything being wrong. These hopes were dashed within minutes when we were told, that because there was not a brake in the spine it maybe meant that our baby had a rare condition called Dandy walkers, but because this was so rare (1 in 30,000) it may just be one of many things wrong with our baby and conditions such as Edwards were suggested. At this point we were offered a Amnio again. This time we agreed to it because we felt we needed to know exactly what we were dealing with for ours, our older childrens, and the babys sake. We only had to wait 3 days before we got the first set of results to come through which ruled out Downs, Edwards and T13. We were so relieved. It did not even cross our minds that anything else could be wrong and we started to come to terms with our baby having a Dandy Walkers Cyst.

I was exactly 23 weeks pregnat and enjoying a day at the zoo with my older 3 children when I got a phone call from our specialist to tell me that they had found extra material on our baby's chromosome 8 (at this point they didnt know what the extra material was). He explained that the genetic team in the hospital wanted me and my husband to go into the hosptial as soon as we could to talk to them about their findings and to have blood tests. I dont actually think it sank in what he was saying as I told him i couldnt possibly come in now as the kids were off school and we were at the zoo. He repeated what he said and then it sank in. I did a very quick tour of the zoo, picked up my husband and dropped the kids off to my parents. The genetic team took our bloods and explained they were checking to see if either of us had any abnormities of our chromosomes. At this point I started to worry about our other children, although they are all healthy.. I still had a moments panic.

We had to wait a few weeks for our results to come back clear and in that time I continued to have regular scans of our baby to keep an eye on the fluid and a mri to take a further look at her brain. They found her heart also seemed to have a slighty enlarged muscle on the righthand side which suggested the heart was working harder than it should, so this was also being monitored now. Once all the results were in and they knew exactly what the extra part on the chromosome was we had to once again sit down with the specilists and talk through our option. They explained that some how our babys chromosome 8 had managed to dupicate itself, then turn itself over and then delete a bit off the top. I've got to say that went straight over my head!. We were then told the possible outcome for our daughter. They said she would have moderate to server learning difficutlies, possible facial abnormalities, she would have very little muscle tone and a list of other medical conditions. They said how this information had come from medical studies of 23 other people with a condition like our babys but not exactly the same in the world. We were then again given our options and were told to go away and think about these.

All I can say at this point is THANK YOU UNIQUE!. A friend of mine found the unique website and passed it onto me a few weeks earlier and I'd read a few of the leaflets about chromosome 8. Now we knew exactly what our little girl had we started to read up more on it and contacted a few families with children with a 8p inv dup del, as well as a few local families that were members of unique. The support we got from everyone we talked to was fantastic. Ever family we spoke to said basically the same thing.. although their children had difficulties they were still happy children and a joy to have in their lifes. I was no longer as scared and although always knew we were making the right decision for us to carry on with the pregancy, this helped confirm it and i started to really look forward to welcoming our baby to the world. The specialists at the hosptial were very supportive and caring throughout all this.

At 35 weeks our baby decided to make an early entrance. She came out crying, breathing on her own and weighed 5lb 4oz which is not bad for a 5 week early baby. She was taken straight off to the special care baby unit in St Michaels to be checked over. By the time we made it up to see her she had been put on a drip and was being tube fed as she was not able to feed on her own. This was something we had tried to prepared ourselves for as we were told about how her muscle tone would be low and feeding would be hard. In her first week she had a lot of tests to check different things including, an mri scan to see how the fluid on the brain and dandy walker was doing, heart scans, and tests to check her digestive system as everything they were putting down her would come back up the tube. The mri scan came back to show that Gemma no longer had fluid on the brain or any signs of a dandy walker cyst, it did however confirm that she had ACC (a connection between the two sides of her brain missing). Her heart scan came back to show she had a moderate sized ASD which they explained may close over on its own otherwise there was an operation they could do which will be look at again when shes 6 months. Finally the digestive test and every other test they carried out came back clear.

At 8 days old Gemma had her first go at breastfeeding, I really didnt expect her to be able to do it but she shocked us all by feeding for a good 30 minutes. She was doing fantastic, and I think she was starting to surprise a lot of people with her good muscle tone too. Whenever I tried to change her bum she really did show her disgust by kicking out at me. Normally this would be annoying when changing a newborns bum but in this case I was frilled to bits and a very proud mummy.

Sadly on day 9 the hospital rang us in the early hours on the morning to say Gemma had stopped breathing and they had to put her on a ventalator to help with her breathing. I went straight in to find Gemma had been put back into the intesive care unit and she had lines coming out of every limb and in her head. A doctor and nurse pullied me aside quickly and explained to me how they had done a lumber punction and from the results it looked like Gemma had contracted menigutis but at this stage they didnt know what type she had so had to keep trying different antibotics until they could find one that worked, her blood pressure had also dropped so she was on 3 meds for that too. I called my husband in straight away and we just spent the following few day there watching and feeling totally useless. After 2 days Gemma finally started to respone to the drugs they were giving her and she started to fight the ventaler a bit more. They decided to give her more morphie to relax her a little more to give her body a chance to fight the infection. It was around now that her right arm started to turn a dusky colour and her finger tips went black. Again the doctors and nurses were fantastic and did everything they could to stop this getting any worse, without their quick actions we know we would have lost her. Gemma had blood transfuses and slowly started showing signs of getting better. Her arm went back to the correct colour and the only signs she had left from her ordal was 2 black finger tips.

A week after contracting menigutis she finally came off of the breathing machines and mophie and made her way out of intesive care for the second time. She was then in hospital for another week to finish her course of antibotics and get her feeding again before finally coming home, just in time for her first christmas. Her big brother James (6) and sisters Zoe (5) and Jessica (2) love Gemma to bits. We are so proud of the way they have dealt with the last couple of months.

Gemma is now 10 weeks old and is continuing to do well and amazes us every day. She now weighs 7lb 15oz but shes got plenty of time to catch up. She started smiling the other day which I have to admit did cause a few happy tears. We know things may change in the future for Gemma but at the moment we are just enjoying having a healthy and happy baby. She has definity been worth fighting for.

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Thank you for reading my story .. if you got this far.. sorry i know its a long one ...

Just a small update on how gemma is doing these days.. she is now 7 months and weighing 15lbs. Sadly she did loss a lot of her hearing, we think through the menigitus.. not her chromsome abnormity and she now wears hearing aids. She isnt reaching her milestones and they have now said she has globel development delay but we are getting so much help from specialists from all different areas and this has been caught so early she really is in the best possible position right now.

Shes a little cutie and very happy and thats the main thing to us x

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awww nic gem is a lil star she has done so well with everything she has been through as well as you jules and the kids you have all done a fab job and bet gem is so proud to have fab family like you lot

Inspiring xx

amazing little fighter! credit to you and your family
wishing you lots of luck with the future xx

Hiya

Nice to see you here! How is Gemma getting on? Think about her often.

Fiona, Craig's mum (T8M baby)

Wow hun, what a story xxxx

Thanks for your comments guys.. I think shes lush but I would say that .. i will try and post a pic up later once i work out how to do it.. lol

Hi Fiona.. its lovely to see you on here.. how are you doing? ... Gem is doing well.. shes doing loads better than we thought she would but she is still needing a lot of help.. she has reg physio now as her muscle tone does need a lot of work.. shes 8 months now and still not holding her head well but she is improving all the time bless her and takes it all in her stride.

Shes having a helmet fitting next week to try and help her head movement.. she tends to lay on her right a lot due to it being flat so the hope is with this it will help round it off a little and encourge her to move more to the left too.. fingers crossed x

ahhh good luck xx

before i forget to do this again.. here is picture of little Gem x

oooo she is beautiful xxxx