Jenny's Recount of the First Six Months (taken from her diary)


Jenny was happy with her pigeon pair until she was 39 and suddenly became clucky. She saw 40 as the last opportunity. Her womb would close after that. Joe thought it was a great idea. She became pregnant that month, before she could change her mind, which she was in the process of doing.

Once Jenny got used to the idea she was ecstatic as was Joe. Jenny had the first ultrasound at 6 weeks as she thought she was miscarrying. Expecting the worst but instead, like Melissa, she received the best news - the baby was fine. The next ultrasound was at 9 weeks - everything looked good. This was followed at 13 weeks by the nuchal translucency ultrasound. This scan gives an estimate of risk for DS based on a measurement of the thickness of the fluid-filled space at the back of the baby's neck, as well as the mother's age and the stage of pregnancy. It detects around 60-70 percent of babies with DS and may indicate other fetal abnormalities. Jenny knew being 39 that she had a high risk of DS  (the risk is considered to be 1 in 100). This is due to the aging eggs.

The baby had this thickening and the first question asked was "Do you know that you have a high risk of having a Down Syndrome baby?" Jenny's response was, "Why? Does the baby have the thickening?" To which the response was, "Yes". Now based on that fact, any other couple would probably have been told by the clinician that they have a high risk of the baby having DS...  but in Jenny's particular situation this was not the case. Her other two also had thickening but no DS. The technician thoroughly checked for other signs of Down syndrome but could find none  i.e. heart defects and the bones in the nose, fingers and legs are smaller, so Jenny and Joe went home with the thought that there was a strong possibility that the baby had Crouzons (no thoughts of Downs whatsoever). They were disappointed, but really happy that the baby was doing well - and it was very early days. The next scan at 23 weeks showed no conclusive indication of Crouzons (Downs was not mentioned). The final scan was at 28 weeks and showed that the eyes were very slightly wider apart then average and were slightly more prominent then what they should have been - there were no other indicators (Downs was not mentioned). So we went into the birth presuming that the baby had a mild form of Crouzons. 

Interestingly enough Jenny found out at her 6 week post check up that with the results of the 13 week ultrasound and blood test, that she had a 1 in 5 chance that the baby having DS but the obstetrician had not disclosed this information during the pregnancy. Jenny suspects this was because there were no other indicators of DS on the ultrasound and he knew she was against abortion. If she had known, Jenny would have most likely spent the rest of the pregnancy worrying and stressing out.

In between these times Jenny had a wonderful pregnancy - the healthiest and easiest pregnancy out of the three. She thoroughly enjoyed being pregnant and lapped it up as she knew this was going to be the last time.

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Birth



Jessica was born at 38 weeks by caesarean section. Jenny had a c-section because of the strong possibility of the baby having Crouzon Syndrome. Everything went well with the birth and Jessica was placed on Jenny's chest so she could meet her. Jenny looked into her baby's eyes and could not the see the Crouzons... but she was positive that she saw something else - something that Isheconsidered at that time to be way more sinister. Jenny pushed that fleeting thought away and was thankful to God that her new baby girl was alive and well. Jessica weighed 3330 grams and was 46 cm long.

The pediatrician was busily checking Jessica over and when Joe questioned her as to whether Jessica had Crouzons, the pediatrician answered that she was not sure. The pediatrician conferred with the obstetrician but nothing was said.

After the birth there was the usual wake up call and the rapid adjustment to a newborn - the trial and error of trying to breastfeed, the dreaded waking up for 3 hourly feeds, and the feeling of soreness after the caesar. But there was also extreme joy of showing off the baby to family and friends.

Every question centred around whether the baby had Crouzons or not. Everyday the pediatrician would  pop in and have a quick look at Jessica and would check her head to ascertain whether she had craniosynostosis. Everyday there was the same response - unsure. The only comment the pediatrician made was that there could be fusion occuring because the back of her head was flat (a typical DS characteristic). Jessica also had sandal toes (another DS characteristic) but my other two also have sandal toes. There were other characteristics listed below that the pediatrician either ignored or discounted. The final decision was that there was a possibility she did have Crouzon syndrome but it would be best to have the genetic testing done to confirm it. Jessica was 4 weeks old when we went to see the geneticist.

Now Jenny says on hindsight, that if there was not Crouzon Syndrome in the family, then Jessica would have been diagnosed at birth.

The 4 1/2 days spent in hospital were fairly uneventful with Jessica. She breastfed really well - astonishingly well, and had a really strong suck. One of the nurses said that her suck was the best that she had felt. She slept and only fussed the night before Jenny left hospital. She had jaundice but the pediatrician thought it was within normal limits so she was not tested.

Jenny left hospital tired and sore but content with how everything had turned out to be so far (and of course having no knowledge that the characteristics listed above were from her Downs not from Crouzons).

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After doing the research for this website Jenny has put together the following list of Down syndrome characteristics that Jessica displayed at birth:

* sandal toes

* small head

* flat back of the head

* blue feet and hands (acrocynaosis)

* blue mottling on skin (cutis marmorata)

* rough dry skin on feet (xerosis)

* webbing of toes on one foot

* misshapen ears

* slanty eyes

* small mouth with protruding tongue

* short neck

* short, high-pitched cries

In the following month Jessica also displayed:

* poor muscle tone

* constipation

* reflux

In the following month when Jessica had an echocardiogram (ultrasound) it was found that she had a:

* heart defect (AVSD with a common AV valve)

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0-1 Month



In the first four weeks of Jessica's life a number of problems arose. All three were stressful and impacted on the family. Number one and two problems were Jessica's brother and sister. These went hand-in-hand with problem number three which was Jessica's inability to feed due to severe sleepiness. The household was not a happy one to begin with until these three issues were brought under control.

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Problem Number One - Three year old Nicholas

Nicholas was severely put out by the birth of Jessica. Being the youngest and the only one at home he was used to having a lot of individual and undivided attention. Well this was smashed with the arrival of Jessica. It took a couple of weeks for him to settle down and realise that she wasn't going anywhere and that he was still loved. After he settled down he showered Jessica with love.

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Problem Number Two - Six year old Melissa

Melissa went to school on the day of the birth. The principal came and told her when Jessica arrived. Joe and Jenny had told Melissa Jessica's name the night before so she knew before the school did. Melissa was fine at school and all excited about going to the hospital to see her baby sister. After seeing Jessica she changed. Melissa became lost. She didn't know what her role was anymore in the family and she didn't acknowledge Jessica's existence for 4 weeks.

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Problem Number Three - Jessica would not wake up to feed

The day Jenny and Joe brought Jessica home marked the beginning of a very stressful few weeks on top of her siblings' behaviour (though it must be said that the Jessica stress did impact on the other two). They arrived home around lunchtime on Day 5 (Sunday),  unpacked and Jenny fed her. The rest of the day went well. That night Jessica had a bath and her bedtime routine - no problems. Jenny went to bed and woke up horrified the next morning - it was 5:30 am and Jessica had missed two feeds. It took a couple more hours before Jenny could wake her enough to breastfeed her (10 hours in total). The hospital rang around lunchtime and Jenny explained the problem - they said wake her (which she had been trying to do - every trick in the book - undress her, wet her, wriggle her etc - nothing was working). They said they would let the pediatrician know. Monday night proved the same. Tuesday Jenny was extremely worried and stressed. She contacted the pediatrician who said to bottle feed her and set the alarm for during the night, and to let her know if things maintained the way they were. Tuesday afternoon was better using the bottle and Jessica fed during the night. Wednesday morning she refused to bottle feed - Joe and Jenny panicked. They took her back to the hospital for advice. The pediatrician was on holidays but the hospital contacted her. She told the midwife to show Jenny and Joe how to force feed her with the bottle and they were sent home (Jessica lost a pound in this time). Joe and Jenny thought this was all due to her jaundice and that they would have investigated her levels, but they didn't. They went home frustrated and made the decision that if things didn't improve they would take her to another hospital for advice. The force feeding worked. Jenny would express and Jessica would have the milk in the bottle.

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Seeing the Geneticist and the Diagnosis

At four weeks Joe and Jenny took Jessica to see the geneticist. She took Jessica and did some floppiness tests on her and sat down to have a chat. Jenny wondered what she was doing as they were there to get the paperwork for the Crouzon syndrome DNA test.

The geneticist asked Jenny what she thought Jessica had and she asked Joe as well. Jenny said that she thought she had a mild case of Crouzons based on her 'sandal toes'. The geneticist told them that she wanted to do a chromosomal test as well as the Crouzon test. Jenny had no clue why. Then the geneticist said that she was fairly certain that Jessica had Down Syndrome.

This hit like a bomb inside Jenny's head. Down Syndrome. That sinister thought she'd had when she had seen Jessica for the first time, came back rapidly. There it was raising it's ugly head again!

Joe immediately told the geneticist that he had had the thought as well. Neither of us had been brave enough to verbalise what we've seen in her eyes.

Well here it was - they had to deal with it now. Jessica went and had the blood test and they went home in shock.

Once Joe and Jenny got home they cried and rang family and close friends to share the news. Their friends came over and everyone was in denial.

The next day the phone rang. Jenny was too nervous to answer it, so Joe did. He started to cry so I knew what the results were. My prayers that Jessica did not have the syndrome were not answered. The next wait was to find out whether she also had Crouzons along with it.

Jenny stunned herself with her reaction. She thought she would have accepted the news as she had accepted so many other things in her life. But Jenny didn't. She didn't want a child with Down syndrome. She had told God that if she had to have a child with Crouzons or Downs, give her Crouzons, as she didn't ever want to have a child with Downs. Jenny didn't think she could cope with that. And low and behold, what did God give her? A child with Downs. Jenny was angry - really angry! She was angry with God and she wanted to give Jessica back - she didn't want her - Jenny wanted the child with Crouzons instead. Jenny actually rejected her for a few hours and wouldn't go near her.

Thankfully the next morning Jenny got her act together and fell back in love with her beautiful baby daughter again. Jenny was thankful for not having been told the news for 4 weeks as she had really bonded with her baby girl by then and she knew how much she loved her. That love came back to the surface the next morning.



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1-2 Months

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Feeding

After a few weeks Jessica began to wake up and Jenny continued to express milk and she would have it in a bottle. She tried breastfeeding once Jessica was more awake but she was not very good at it - very poor sucking. Jenny was really disappointed as she had such a good suck whilst they were in hospital.

At 6 weeks the obstetrician prescribed Motilium to help Jenny's milk supply which was fading fast. Because babies with DS are very prone to sickness Jenny wanted her to keep having the breast milk.

At 7 weeks Jenny was reading some information on breastfeeding babies with DS, and it said that if you persevere that at about two months they should be able to breastfeed. So Jenny decided to give it a go and Jess was able to. She could not latch very tightly but was able so Jenny decided to see how she would go.

Jenny could not breastfeed her out in public because of her inability to attach well and the fact that milk would dribble all over Jenny's stomach. Her stronger side she was able to do more efficiently then her weaker side. Jenny did not have enough milk to fully breastfeed her so Jessica was supplemented with formula. She also had reflux which was worse when she was lying horizontal breastfeeding.

The formula prescribed for Jessica was anti-reflux to help her reflux and anti-allergy which helped keep her from being constipated.

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Immunisations

Jessica had her two month immunisations and the Rotar Virus as well, as children with DS are very susceptible to this virus. She coped well with these.

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6 Week Check Up with Pediatrician

Jenny and Joe saw the pediatrician at 6 weeks and Jenny questioned her as to why she had not picked up the Downs. She told Jenny that Jessica had unusual facial features but she could not tell for certain what it was so she did not say anything. She said that Downs crossed her mind but that Jessica had no other outwardly overt characteristics apart from her facial features, sandal toes and flat back of her head i.e. she had normal creases on her hands and she could suck really well. 

She recommended that they contact the state Down Syndrome Association and the local FECS team (early intervention team which consists of a social worker, occupational therapist, physiotherapist and a speech pathologist), which Jenny did. Jenny received a lot of very good information back from the Association and met the social worker and the physiotherapist a couple weeks later for an introductory talk.

Jenny admits it was very difficult to read the information that the Association sent. Joe felt the same way. It was also hard to read anything on the internet to do with Downs - they wanted to educate themselves but all the information was depressing. They both shed tears and  mourned the loss of the child they thought they had, and then moved on to the child who they did have. It took a few months for this process but little by little they were able to look at all the information.

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Milestones

Apart from raising her head when lying on her stomach at 4 weeks, nothing happened until she reached 9 weeks.

At 9 weeks Jessica

* made her first smile but then did not repeat it until she was nearly 4 months old.

* began following objects with her eyes.

* turned her eyes towards interesting sounds.

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3-4 Months

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Feeding

Jenny continued with breastfeeding and supplementation until Jessica was 6 months old. Why? Because she was determined. The other two children had breast milk for 6 weeks due to not being able to attach and suck properly, and Jenny was satisfied with that. But the information around that said that babies with DS are more susceptible to getting sick made Jenny stick the process out. Jenny wanted to get Jess through the bad flu season with as much immunity as she could have.

Breastfeeding and then topping up with formula meant feeding took a long time. But it was worth it, as the rest of the family came down with quite a few bugs over the first 4 months and Jessica didn't.

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Genetics

There were problems with the DNA testing for Crouzons but finally the result came through - negative. Jenny and Joe were so thankful that she only had one syndrome to deal with.

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Down Syndrome Baby group

Jenny and Joe went to the first Down syndrome baby group (with the FECS team) when Jessica was 14 weeks old. Jenny was excited to finally meet other mothers and see other babies. Disappointingly she was the only one who turned up, but because of that she got to spend time with the team. They were all amazed with how good Jessica's gross motor skills were. Jenny left feeling rapped.

The next time they went to playgroup Jessica was 4 months. She had been smiling for a week. They had been desperately hanging out for her smiles. Jenny had been really worried about why wasn't she smiling but she knew that her facial muscles were not strong and she really felt that she needed to strengthen those muscles first before she could smile. So when the smiles finally came tears came to Jenny's eyes. And with those smiles a week later came a giggle too - two blessings together.

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Jessica's Heart Defect

When Joe and Jenny took Jessica back for her 6 week pediatrician check up, they were told that Jess would need to have a heart check up as half of all babies with DS are born with a heart defect. Jenny and Joe were told that nothing could be detected with the stethoscope so there was nothing to worry about. No appointment was forthcoming so Jenny kept ringing the pediatrician until finally one was made, though they had a 1 1/2 month wait.

Jenny and Joe took Jessica to see the cardiologist who upon listening to her heart said that he thought that there wouldn't be a problem.

He did the ECG but was proved wrong with his initial diagnosis. Jessica did have a problem. She had a AVSD (basically two holes that connect to make one large hole) and only one valve where they should have been two. Jenny and Joe were absolutely stunned. Jenny will never forget that moment. She doesn't remember much of what was said, only the feeling of 'why God?'

Once home and Jenny had calmed down she hit the internet to find out what it all meant.

Three weeks later they went to see the cardiac surgeon who explained the operation, and explained that there was a long waiting list, and unless she deteriorates it could take up to a year in wait. Jenny and Joe were to see the cardiologist once a month until the operation happened.

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Milestones

A friend had a baby two weeks after Jessica was born. Jenny found that she had to guard her heart when she saw this baby. She was way ahead of where Jessica was and to be truthful it hurt that Jessica was not at that stage too. Jenny had to tell herself not to compare her, and that Jessica was doing really well.  

At 4 1/2 months Jess weighed 5.85 kg and was 59 cm long.

At 12 weeks Jessica:

* started to make speech-like sounds

* held her head up when sitting on our knee

* rolled over from her tummy to her back

At 14 weeks she:

* reached out to grab a toy

* put things in her mouth

At 4 months Jessica:

* smiled consistently at faces

* giggled

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5-6 months


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Feeding

Jenny continued with breastfeeding and supplementation until Jessica was 6 months old, and Jenny was very satisfied with the achievement.

(Soon after the last diary entry Jenny gave up the breastfeeding as Jessica was not improving as she had hoped. In the end it was much easier for Jessica to take the bottle than the breast. Jenny thinks she probably had a bit of nipple confusion mixed in with it all. Jenny then expressed for 2 more months until her milk dried up.)

Jessica also started solids in this time (at 6 months). Jenny was tentative beginning solids as she wasn't sure how she was going to go. Jenny got a lot of advice and steeled herself for what she thought was going to be a horrible experience. But there was no need for my trepidation because Jess did really well. The main thing Jenny found was that she needed to use a hard small headed shallow spoon. Jenny also had to push her tongue down with the spoon to help her keep the food in her mouth. She pushed some out with her tongue but they just kept on going. Jessica had no problems swallowing.

The first food was custard as that was close in consistency to her thickened formula. Next Jess had baby cereal mixed with the custard which was a lot thicker but she happily ate it. Then they started to introduce different flavours and textures. Pumpkin was not too big of a hit. But Jess liked the chicken and beef combos. The next plan was to introduce more flavours, small lumps and then progress to bigger lumps.

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Jessica's Heart Defect

Jessica continued to see the cardiologist once a month for a checkup for her avsd with a common valve heart defect. No deterioration was occuring which was a miracle with the state of her defect. In fact you would not know she had a serious heart defect as she was putting on weight, she had no serious feeding problems once they put her purely on the bottle (still some leakage around her mouth from the low tone of her facial muscles), she had energy and she did not have cold, clammy sweating. The only thing noted was that Jess was breathing more rapidly and was picking up colds (but IJenny wondered if this was because she was getting a lot less breast milk so not as much immunity). Joe and Jenny were told, the op would occur by Christmas.

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Down Syndrome Baby group

Jenny continued to take Jessica once every three weeks to the baby group with the FECS team (early intervention). To be truthful at times the information was overwhelming and Jenny felt like a first time mother all over again. She had taken milestones for granted with Melissa and Nick. They had both reached their milestones quickly and without any help. One of the first things Jenny found out was that babies with DS need help to achieve their milestones, though they will achieve all milestones but at a slower pace. Once Jenny settled herself down she took the new information to heart and set out to be educated and to help her daughter as much as she could. The FECS team was happy with Jessica's progress.

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Coming to terms with the Down Syndrome

Jenny thought she had come to terms with Jess having DS, but it hit her when Jessica was 6 months old that I hadn't. Jenny was deceiving herself. Jenny was extremely angry that Jess had been born with DS and she was carrying a lot of societal attitudes and prejudices towards DS. The shocking thing is that Jenny didn't know where she'd picked them up - her only guess was from the emphasis that was put on whether her other two children had DS early on in her pregnancies (both started off as babies with DS, which was later ruled out) and that DS was a terrible thing for a baby to be born with.

Talking about her feelings and acknowledging them was freeing. Releasing the anger she felt towards God, who she knew loved her, and would never give her something that she could not deal with, was cleansing.

After acknowledging these feelings Jenny immersed herself with others. Jenny and Joe went on a family picnic with the local Down Syndrome Association, and Jenny met and talked to other mums who had babies with DS. There is nothing better then talking to someone else who is walking in your shoes. These activities were all antiseptic to her soul. 

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Milestones

Jessica kept steadily progressing with her height, weight and milestones. At the end of 6 months she weighed 6.96 kg and was 64.5 cm long. She had gone from the 50th percentile to the 75th percentile on the growth charts.

Jessica continued to practice what she was already doing. Joe and Jenny noticed though that she stopped rolling from her tummy to her back. She would roll onto her tummy and then scream when she got too tired or frustrated. They worked on this with her and at the end of the 6 months Jess started to remember what to do again.

The main milestone reached at nearly 6 months was that Jess rolled from her back to her tummy.

She also started to hold her head up high when she was on her tummy to look at objects.

She reached for and held on to a lot of different types and textures of objects. (And mouthed everything).

At about 6 1/2 months Jess found her feet and she liked to hold them one at time to begin with. By the end of the month she was holding both of them at the same time, and by the end of the month she was even sucking her toes!

She interacted with the family and would follow them with her eyes. She enjoyed grabbing her daddy's goatie and mummy's hair. She also loved holding fingers. Jess loved her brother and sister's attention and would give them big smiles and stare at them. When they talked and sung to her she would make sounds back.

At the end of the 6 months Jessica was beginning to develop more strength in her back and was beginning to sit up straighter but she was unable to sit up unaided.

The other thing Jessica would do was to stand up which she did from early on, jump up and down when being cuddled, almost like she wanted to crawl up our chest and fling herself backwards. We learnt to always have two hands on her.

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Post script: After this last post, Jenny went back to work and life became busy. Jessica did achieve her milestones and went on to do ordinary things. See Jenny's blog Crouzons Downs and Me...Love and Life for more.1