Maisies Story

Our first child…… yipeee we were so excited after just returning from New Zealand.

Ever heard that saying you thought you were going to Holland, had your bags packed and ended up somewhere completley different!

All was going well until 20 week scan when we were told Maisie had bilateral club feet, which we were told would be positional and would be corrected by some physio.

Latter stages of pregnancy Maisie was not a mover and had a low heart rate which each time we went for scan and tracings etc, the standard reply was that Maisie was a laid back baby!! It was mentioned that as my bump was not growing that they may have to get Maisie out early, but then nothing was mentioned.

Birth…… well after a few more miscommunications from the midwife team I went in erlry evening, think they thought I was a hysterical mother! They kept telling me I had a water infection?????? and that I would be discharged the following morning, I was 40 weeks at the time! The following morning after being up all night pacing, I was told I was not going home as I was 8 cm!!!!

The drama began and ended with me having an emergency C section and anaesthetic, so didn’t see Maisie til well after she was born, which again dashed my dreams of this lovely natural birth everyone aspires to!

From there, Maisie was 5lb 10 oz, had folds of skin where her muscle was supposed to be, tinged yellow, low blood sugars, and wouldn’t suck properly. There was also a problem with her platelets, which must have resolved as after about 3 days I was discharged home. A routine check up for the platelets found she had a heart murmour so went to special care baby unit for tests. Nothing revealed so had an appoitment to have an echo done.

Maisie was then put into casts from her thighs the first week, bit different from a bit of physio! We changed them every week. This went on for 3 months then she was put inot boots and bars, looked like a snow boarder…… had some great stares and comments from people out!

Inbetween time her echo diagnosed a pulmonary dysplatic valve. Nothing major so was relieved. Feeding probs continued….

Maisie was floppy and met all her mile stones late from birth. She had an open mouth and protruding tongue and dribbled constantly til about 3 years old, occasionally has a odd dribble now in concentrating etc.

Saw the genetics folk in Uk for her feet heart and low body tone, had the FISH test done with no result.

Then we moved back to New Zealand, we just couldn’t settle back into the way of life in the UK.

Since then we were referred to the Early internvention team, for her low muscle tone etc. Paediatrician, ortho surgeon, heart folk etc etc. Maisie had a fit when she was 1 years old which was then detected she had a UTI, so then saw further test diagnosing reflux bilateral Grade 4 and 5. On antibiotics since. Had some further fits and thay did an EEG which did show some mild epilepsy so started on Epilim, which had an awful effect on her behaviour so we stopped it and no fits since. Had further FISH tests done and at which stage we were told Maisie would probably fit into the group of kids that never get a diagnosis.

A muscle biopsy showed congenital fibre type disproportion, which wasn’t a diagnosis as such but explained why her muscles were low in tone.

As we continued with her development delayed, walked at 22 months etc, we had a brief stint of physio and some OT which never really amounted to much for her fine motor skills.

Of late its been found that her heart is abnormal, not causing any bother at the minute but as the cardiologist said it was a syndromic heart and had not seen one like it??? then who knows which way its going to go…… She also has high blood pressure which we are just waiting to get treated.

She had private speech therepy for a while which helped greatly, her speech is now the area which is developing quickly, granted still way behind but able to communicate, whcih is just amazing and beautiful to hear her. She sings along with music and she really does sound beautful, enough to make your heart melt, and put aside any sad feelings of whats happening.

We finally had her blood sent to UK for microarray testing which gave us the diagnosis of 17q21.3. Some comfort to have a diagnosis especially in New Zealand where if you have a “name” then you are more likely to get government assistance. At the same time little is known about it so difficult to get a grasp of what would happen in the future. Great to have this web site to share all our happiness and concerns with other families.

Maisie in herself, well even though being described as having dysmorphic features, low set ears, srtiking telecanthus???? etc to us she is beautiful. A mop of blond hair and quite angelic like. She is extremley friendly…. says hello to everyone and anyone, however have noticed that she does not understand and frieks if someone is wearing a turban or of a diffrent coloured skin, not sure why. She still does not like loud noises of machinary etc. She gets bothered and is sensitive if anyone around her is upset and wants to make them better. She is very social and outgoing and has great confidence. She is funny and just comes out with the most amazing things again to make your heart melt. She hates having her hair touched and brushed. She loves music and dancing and books. Behaviour wise, well thats been a bit up and down, not sure if it’s through frustration, she still tends to hit us once in a while and makes this angry face when we think oooh shes turned!!! Thankfully now potty trained during the day but not at night which I am sure will come and not getting our knickers in a twist about it.

Maisie now goes to main stream school and she has a teacher aid. The other kids in the class love having her and each want to be her buddies at lunch time etc etc so really relieved. We were not sure which way to go with mainstream or a specail needs school. We might have to change at some point depending on how things go, but hey, thats all along the course of learning and living with Maisie and her uniquenesses.

We have been told many a time that we were given Maisie for a reason….. hated that at the beginning, but now my goodness its changed us as people and has opened our eyes to alot of things, granted some days I still ask why Maisie……. each mile stone she meets is worth so much …… She makes us proud.

Maisie 5 years and 5 months

Submitted by:Maisies parents Nic and Craig