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Macy is 17 months old and was diagnosed with Turner’s Syndrome when she was 1 day old.
I had a normal pregnancy with Macy up until 32 weeks when I went into pre term labour, this was quickly stopped and there were no issues until 37 weeks when my blood pressure kept dipping down resulting in me getting dizzy. I insisted that I couldn’t put up with being dizzy anymore as I felt like I was going to fall over continuously and at 37 weeks pregnant that isn’t a nice feeling. The obstetrician agreed to induce me at 37.5 weeks but warned me that I would likely end up having an emergency c-section because my body wasn’t ready. Throughout my pregnancy I had numerous ultrasounds because they always said Macy was small, I also had testing down for Downs Syndrome which came back normal, all of my ultrasounds were normal other than Macy measure 2-3 weeks behind the entire pregnancy.
Looking back now there was a few common factors of Turner’s Syndrome throughout my pregnancy like Macy measuring small and the pre term labour.
So I was induced, after 28 hours Macy wasn’t budging. I ended up having an emergency c-section. Macy took 5 minutes to resuscitate, this of course felt like an eternity. All I wanted was to hear my baby cry. Eventually I hear the scream we were hoping for. Macy weighed in at 3350gm or 7lb 6oz and 46cm long (a completely normal size for being 2.5 weeks early and having Turner’s Syndrome).
I got to see Macy briefly before the doctors showed concern for the fact Macy was cold (not keeping her body temperature warm enough) and shaking/shivering. Macy was taken to the NICU for a short time while they ran tests on why Macy wasn’t holding her body temperature well. All she had was low blood sugars and needed some food in her tummy so she was soon back with me. I was feeding Macy at some ungodly hour when I noticed that her left foot was double the size of her right so I buzzed the nurse and made light of it thinking it was normal and she just had a chubby foot. The nurse looked at me a bit funny and walked off, a paediatrician soon came back into see me. The paediatrician said they were worried about Macy’s foot. They said that there were two options, that she had a drainage problem in her body which would be the desired diagnosis or Turner’s Syndrome. The way the Paed explained it to me it sounded like a death sentence and that my baby was going to be disabled and unable to live a normal life. Tests were done and it was confirmed that Macy did infact have Turner’s Syndrome. The paediatrician who told me she had Turner’s Syndrome was much better and he explained that all girls and women with Turner’s Syndrome are effected differently and that Macy has classic Turner’s Syndrome which means she is missing an entire X chromosome. The next 24 hours went by in a bit of a blur while Macy had x-rays, ultrasounds, scans, blood tests and heart monitoring. The doctors were content that she was healthy enough to come home and I would return in 2 weeks for her to have further testing to see how severe the effects of Turner’s Syndrome were going to be on her.
Macy suffered from quite bad jaundice until she was 3 weeks old. She underwent about 15 blood tests in those 3 weeks, she had heart, kidney and hip scans numerous times, she was poked, prodded and used as a dummy to show medical staff what to look for in newborns with Turner’s Syndrome, I didn’t realise that as a mother I had the right to tell medical staff not to use my child as a dummy or treat her differently to any other child.
Macy was a completely normal newborn, she slept like an angel, rarely cried, she breast fed well which apparently is rare for babies with Turner’s Syndrome that have a narrow high arched palate. Macy had extremely bad reflux though which we now know was caused by the narrow high arched palate, at the time the doctors were blaming lactose or something else I was eating. At first Macy put weight on quite well but after about 5 or 6 weeks she dropped right off and wasn’t putting any weight on because everything that went down came back up. At 6 months the paediatrician insisted that she move onto a hyper allergenic formula to assist with weight gain, this worked and from then Macy steadily put on a small amount of weight each week.
Every scan and test that Macy had came back clear much to our relief. Macy has no heart defects, no kidney defects and no hip defects (keeping in mind that this could change at any time). Macy doesn’t have a webbed neck which is extra skin at the back of the neck. Macy has a low hairline and slightly droopy eyelids which isn’t noticeable until pointed out. Macy’s ears aren’t low set, she does have swelling to her hands and feet however this is minor and comes and goes, her chest isn’t overly broad but she does have slightly widely spaced nipples, she has upturned toenails which result in major infections and ingrown toenails, her fingernails only upturn when they are left to grow for too long, she is currently under review for surgery for her toes. Macy had major middle ear issues which resulted in numerous hospital visits, loads of antibiotics and requiring surgery for grommets just recently. Her hearing was limited in one ear due to the middle ear problems but since her surgery it is back to normal. Macy has developed normally and has a normal intelligence for a child of her age. Her walking was slightly delayed due to her ears and toes effecting her balance. Macy is also extremely hyperactive which does effect her sleep patterns, she is getting much better though with the persistence of making her have quiet time even when she doesn’t want to sleep and introducing one day a week in childcare, monkey see monkey do, she copies the other children who go to sleep.
Macy is under review by endocrinologists, geneticist, ENT’s, Audiologist, paediatrician’s, cardiologists, paediatric surgeons and her GP. She has regular follow ups to ensure that she remains healthy.
Macy’s future will involve a close relationship with the Royal Children’s Hospital where she will most likely need growth hormone and hormone replacement treatments in the form of daily injections.
Macy is a happy little girl that is full of energy, I don’t let Turner’s Syndrome define her, to me she is my perfect daughter and I expect that other people treat her like a normal toddler too.
To look at, even a specialist cannot tell that Macy has Turner’s Syndrome.
People mostly comment on Macy being small for her age, she is on the smaller side but she is sitting around the 25th percentile for weight and height. Macy’s growth will most likely drop off over the next 2-3 months and we will look at growth hormones in the next 12 – 18 months so that she can reach a taller overall height. For now she is small, that’s all.
The reason I am trying to create awareness for Turner’ Syndrome is because 99% of all medical professionals that we have dealt with have no idea what Turner’s Syndrome is or any interest of knowing which leaves the treatment we get at our local country hospital pretty poor. I think I have spoken to about 5 or 6 people in the last 17 months that actually know what Turner’s Syndrome is so the more people I can make aware, the easier Macy’s life will be as she grows. I want Macy to be accepted and not bullied, I want Macy to live a normal life and I want people to understand that she can be treated like anyone else. After all it is just a missing chromosome.
A lot of people wonder why Macy is always having reviews at the Royal Children’s Hospital, well there is your answer. She has Turner’s Syndrome.

If you want to follow Macy’s journey…
www.facebook.com/MacyJadeTSJourney


Posted by Klsmith91, 17th October 2015


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  • yeah that sure is a lot of time spent going to appt’s for such a small kid! at least you know that she is a great kid and there is no reason to see her differently! she will do things in her own way!

    Reply

  • I was following another little girls journey with Turners Syndrome on Facebook. It was called Willows Organic Oasis, it’s gone now. But it was all about her and her family’s journey with the disease. Such a struggle for this mum, but she did do wonderfully

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  • I think my friend has got this

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  • Thank you for sharing your story. I wish you both all the best for the future!

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  • Thank you for sharing, it mustn’t have been easy. Wish you both all the very best for the future and thank you for enlightening me on Turner’s Syndrome.

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  • It will be a challenge, but it sounds like you’re ready to cope.

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  • Thanks for sharing your story. It’s sad that medical professionals you have dealt with don’t want to know more about the condition. You’re doing an amazing job.

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  • What a rough start for you and Macy. Thank you for sharing your story

    Reply

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