Special Thanks

Mia and her family would like to thank the following

*Claire House For Keeping Mummy Sane
*Dr Briggs & Nurses @ Warrington Childrens Ward
*Nurses on the Neuromedical Ward & HDU Ward @ Alder Hey
*Dr Emma McCann & Team For Finding My Diagnosis
*Sue Lawtons Team For Always Being There For Us
*Foxwood Special School, and all their staff for making Mias time at big school so special
*Alder Hey ICU & Warrington Resus & Theatre Team for saving Mia's life in June 13
*CDKL5 Support Group for always being there for Mummy in the good times & the bad
*The Liverpool Rett mums & daughters for making this journey that little easier

About Mia...

Mia Katie Loudon was born on July 24th 2003 in Warrington Hospital, Cheshire, England. All was well with Mia until she was 2 weeks old. I was about to put Mia in the bath and she has this “thing” in my arms, my gut reaction was that she’d had a fit. It was a Saturday so I called the doctors and explained that I thought my 2 week old baby had just had a fit. The doctors laughed at me and said “2 week old babies DON’T have fits”. He said I was being paranoid and that it will be severe colic!!! I was unsure but he was the doctor! Mia continued to have them and over the coming weeks I continued to take her to the GP, to the dietician thinking it could be a lactose intolerance and even the health visitor and they all told me the same that it was colic. When Mia went for her 6 week check I thought now would be a good time to address my concerns further, when asked did she smile I said no not really but the GP put words in my mouth and ticked the box in Mias “little red Book”, the same then with fixing and following. I said no not really the GP mumbled something and ticked the box. And so on….

When Mia was 10 weeks old I took her back to the doctors one last time with the intention of making him refer me to a specialist. She had 2 fits in the waiting room. When I finally got in to see the GP he said “Well without me seeing one, what would you like me to do? If you’re so bothered take her to accident & emergency”!!!!! So I did.

In A&E Mia had 6 more fits, thankfully the doctors were all there to see them and diagnosed siezures.

2 weeks later after a barrage of tests, eegs and brain scans, Mia was diagnosed with a form of epilepsy called “Hypsarhythmia” or “West Syndrome”. I remember when the doctors told me about Mias epilepsy, I thought my whole world had ended! Little did I know there was much worse news to come!

Mia was also diagnosed by visually impaired teachers and her ophthalmologist as Partially Sighted / Blind. This is because she has never fixed or followed.

When Mia was 14 months old in Sept 2004, we were told she would never walk or talk that she would need adult care for the rest of her life and she would be backward!!! I remember feeling numb and leaving the clinic in floods of tears. My husband would get aggravated with me saying I was a pessimist and was always listening to the negative side of things. But I wasn’t. I was being realistic, I’m her mum and I knew what they were saying was the truth. That’s when I started to grieve for the little girl I was never going to have.

In March 2005 when Mia was a couple months off her second birthday. Her chest got into a terrible state, with every fit she was having Mia was vomiting, large projectile vomits. As you can imagine because this was a regular thing it made a real mess of her chest. Therefore, we agreed that Mia should have her name put down for a Fudoplication. (an operation where the stomach opening is closed up to stop vomit or reflux). This was a necessity for Mia a matter of life or death.

When Mia was 23 months old she went into status for 2 days (a seizure), when she came out of it she has lost her swallowing reflexes. She had previously eaten 3 meals a day orally no problem (mashed consistency) and had learned to drink from a cup. I was told that it was the amount of drugs she had over the last 48 hours and that it would come back I just had to give it time. In the meantime she had to be fed by a NG tube, we also started the Ketogentic diet. Mia vomited constantly. This went on and on then after about 6 weeks in the August 2005 Mia was given a Peg in her stomach! I was totally against this in the beginning but after having to pass NG tubes 2 or 3 times a day because they were blocked or she had pulled them out I was glad of it. 6 Months later she had the Mic-key button fitted!

The following month in September 2005, we were still in hospital I had a phone call on the ward to say that the geneticists were on their way down to see me! The big moment had arrived. I was taken into a room with my primary nurse, the geneticists, Dr Emma McCann and a councillor. They said “as you know Mias DNA was sent away and tested for the Genetic mutation CDKL5, unfortunately it came back positive”. I was so relieved; I swear I physically felt a weight lift from my shoulders. I had spent so long in hospital talking to other mums and families I had kind of come to the conclusion I was never going to find out what was wrong and thought it didn’t matter what was wrong with Mia. After all it wasn’t going to change anything. But when the Dr said that it was positive I never realised how much I wanted it. That was it, it was over. The waiting, the wondering. I then burst into tears with relief.

Mias Fundoplication was a not until July 2006. Thankfully it was a success. Fingers crossed since that day not 1 vomit. At first it was awful to watch Mia wretch, sometimes she goes blue because she is trying to be sick that much. But if we hadn’t had the operation done I truly believe Mia wouldn’t be here today. There is always the risk that the operation could undo but we’ll cross that bridge when we come to it.

In September 2006 we tried the ketogenic diet again, a last ditch attempt before her VNS in Jan 07. By the time December 2006 came it was decided to come off the diet as it had no real effect. Mia was quite poorly at the time, problems with her oxygen levels again. So they decided that as Mia suffers alot with tonsillitis that it was wise to get them out asap. So on December 12th 2006 Mia had her tonsils out. Tonsillitis was the only thing that made Mia sad. She would whimper, and have a sad look about her. Not any more. Mia surprisingly recovered really well from the operation, no infections.

Mia had her VNS fitted on January 23rd 2007. She was down for 3 hours but apparently the operation was text book. They activated the VNS in theatre. Mias fits went through the roof the first month after her operation.

We have since been back to the hospital twice for the VNS turned up and the Magnets issued. (These are used to activate the VNS during a seizure to decrease the intensity of it and bring her out of the seizure feeling less tired and increase alertness.)

Last Updated March 2007.

In Conclusion

Mia has had over 17,500 siezures in her life
Over 25 Admissions to Hospital
5 Operations
3 Admissions to High Dependency
1 Admission to Intensive Care

Key Dates

July 2003 - Mia Born By Planned C-Section

August 2003 - Mias First fit

October 2003 - Diagnosed with Epilepsy “West Syndrome type” or “Hypsarythmia”

September 2004 - First Told of Mia's Prognosis

March 2005 - Very Bad Chest Infection Admitted to HDU & Put On CPAP

July 2005 - Mia Went Into Status For 2 Days & Lost Her Ability to Eat & Drink

July 2005 - Ketogenic Diet Tried For First Time

August 2005 - Mia Given a Gastrostomy

September 2005 - Diagnosis of CDKL5 (Extremely Rare Genetic Mutation), 17th In The World & 2nd In The UK.

February 2006 - Mic-Key Button Fitted

July 2006 - Fundoplication Operation. Very Successful. Never Vomited Again.

September 2006 - Ketogenic Diet Tried For Second Time

December 2006 - Tonsillectomy

January 2007 - Vagal Nerve Stimulator fitted and Switched On.

February 2007 - Vagal Nerve Stimulator Turned Up Again and Magnets Issued

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