WNC 05Feb14 - MILLA-JAYNE . . . one of only six in New Zealand with a specific chromosome deletion or rearrangement.
Milla-Jayne is one in several million.
The gorgeous 3-year-old has 22q13 deletion syndrome, also known as Phelan-McDermid Syndrome. She is one of only six in New Zealand affected by the disorder and one of 1000 worldwide.
The syndrome is a disorder caused by deletions or rearrangements on chromosome 22. The deletion happens at the terminal end of the chromosome at the location designated q13.3 _ giving the syndrome its name.
Milla-Jayne has one of the largest deletions of people with the syndrome and is the only one not yet walking independently.
Milla-Jayne's mother Trudy hopes by bringing attention to the family's experience since Milla-Jayne's birth, others may take a moment on February 28 to acknowledge International Rare Disease Day.
Trudy and her husband were the parents of two boisterous boys when, four years ago, the family moved from Hamilton to Kawerau.
``Within weeks of arriving in the Eastern Bay I was pregnant and delighted,'' Trudy said.
Other than violent morning sickness, Trudy said her pregnancy was uneventful.
``I had a scan at 36 weeks as both the boys had large heads. Milla-Jayne's head was also large but I didn't think much of it.''
Milla-Jayne arrived fast and immediately set alarm bells ringing for her mother.
``She didn't open her eyes for two days. There were feeding issues and she was quite jaundiced. She also screamed a lot.'' Trudy's concerns were brushed aside by medical professionals who told her Milla-Jayne would ``come right''.
At 3 months Milla-Jayne developed a high temperature and a rash and was rushed to Whakatane Hospital with suspected meningitis.
``They wanted to do a lumbar puncture but I kept repeating she had been unwell since birth. A lovely visiting doctor from Starship came up to me and said the words I had been waiting to hear _ `I'm listening to you','' Trudy said.
The doctor arranged tests and two weeks later the family was called back to the hospital. ``I was sitting on a chair breastfeeding while my husband sat nearby when we were told our daughter had 22q13 deletion syndrome and given a stack of written material. Immediately after being told the doctor said she would give us a little time alone to digest the news.''
Trudy said she cried when she saw the words ``may never talk'' and ``may never walk''. ``I have never felt more scared or alone. It was like here's the diagnosis now off you go and deal with it. I had no idea where to go for information or support,'' she said.
These days the technical words associated with 22q13 deletion syndrome roll off Trudy's tongue _ despite wishing she wasn't familiar with any of them.
``I have to admit the past three years have been tough but we take each day as it comes. Sleep deprivation is something we live with and it doesn't get any easier.''
Milla-Jayne has reached some significant milestones but the frustration of trying to wade through bureaucracy to help her daughter has also reduced Trudy to tears at times. At 17 months Milla-Jayne was sitting up by herself and she can now self-feed. She can use words although often it is just her family who understand what she is saying.
``Just before Christmas Milla-Jayne took her first independent steps in her walker which, for us, was momentous. We've spent thousands of hours behind her walker, pushing, encouraging, but it was only momentous to us which was upsetting to realise,'' Trudy said.
Along with the ups have come the downs.
``Children with 22q13 are expected to reach these milestones within a given period as long as they have the correct equipment and help to get there,'' Trudy said.
``With Milla-Jayne we sometimes feel we've had to fight tooth and nail just to get what she needs.''
The walker to assist Milla-Jayne to reach her goals was delayed by months and access to physiotherapists has been stopped and started during the past three years.
``I looked at buying a walker myself but the $1500 was prohibitive. The same goes for private physiotherapy, it's just not something we can afford on one wage. But not having
them puts you back when you're struggling so hard to go forward.
``I have to admit I've lost the plot a few times with people but it's hard when you often find yourself thinking how much further ahead could Milla-Jayne be if she had received what she needed at the right time. Could she even be walking?''
Trudy knows statistically her daughter may not walk but she says it won't be through lack of perseverance on her or her husband's behalf.
``Every morning we do two hours of physiotherapy with Milla-Jayne with more throughout the day; we swim as often as we can _ she loves being in the water.''
Both her brothers adore her and also spend hours with their sister.
Trudy says their lives have been made richer since having Milla-Jayne and this story is not to gain sympathy or to ask for help. ``We have what we need and I will continue to fight for what I believe is best for my daughter.
``But on International Rare Disease Day I would like people to turn their thoughts to families who are dealing with loved ones with a disease. Sometimes it seems that if you're not dying, people don't really take much notice.
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`And I would also like people to know that sometimes we have bad days, sometimes we are grumpy and sometimes we cry and sometimes just a little bit of a helping hand goes a long way.''