Family Stories - Keely

Keely is the third child of three - in 2007, aged 3 she was diagnosed as an X-linked manifesting carrier. Keeley was born 10 days late (the same as the others) after a rubbish pregnancy, I was ill pretty much all the way through with colds that moved in and out of my joints. She was my sixth pregnancy, I had three miscarriages.

At birth Keely was floppy, had the unbilical cord wrapped twice around her neck, and was unable to cry. She was diagnosed with Stridor pretty much straight away as the cry was almost like a whimper. I was moved onto the general ward and during the night Keely started to choke and stopped breathing, she did recover from this herself but she was still moved to the special care baby unit (SCBU).

In SCBU she had a tube put in for feeding and began a series of tests. She had a barium swallow which was fine, an ECG also fine, it was noted at this point that she had an asymetric jaw and her head was on one side and she also had a high roof in her mouth. She was kept in special care for two weeks until she was feeding reasonable amounts by bottle.

When she returned home it was noted that she had reflux which the barium swallow identified but when she was sick, it came back through her nose and mouth simultaneously causing choking. On one occasion Keely did start to choke on her own saliva and stopped breathing again and was rushed back into the SCBU. She was immediately transfered to Leicester Hospital where she had one other choking episode and a general anaesthetic and a camera investigation which diagnosed a floppy larynx (a cause of Stridor) which were told she would grow out of and the cry would improve within two years. This also meant when she did get upset and cried her whole chest cavity would go flat to her back which could potentially cause what they call a pigeon chest. We were left under a consultant, who monitored this.

In the meantime whilst at Leicester she was also diagnosed with a rye neck which we had physiotherapy for, this did rectify itself quite quickly. Its still not completely level but if you didn't know you wouldn't notice.

We went through a 12 month period of sleepless nights as Keely seemed to have a night cough and we were always worried about the risk of choking as previously, she was treated for asthma for this - but it turned out that her soft pallet was dropping down into her throat when she lay down as it also had poor muscle tone and was irritating her throat.

We had problems with her feeding - she wouldn't eat lumps or hard food she would just put it in her mouth and spit it straight back out again. We saw the dietician and the speech and language therapists who refered her for another barium swallow. This revealed that she had limited swallow and that food was pooling at the back of her throat and she was at risk of aspiration, but we persevered and eventually Keely started eating not normally but just what she likes, which the dietician says is fine.

We knew that Keely had problems it took ages for her to sit up by herself and she could never lift her head off the carpet so never crawled. She eventually started to pull herself upright and began to walk very stiff legged at about 18 - 19 months old. We kept seeing the consultant who did checks for Muscular Dystrophy which came back negative - she then suggested we had a muscle biopsy which was done at Birmingham Childrens Hospital in January 2006.

We weren't really prepared for the outcome and before we saw the consultant in February 2006 had never heard of MTM.

Keely has achieved all her mental goals - she struggles with play, and getting to standing from sitting, stairs, she falls over a lot and hurts herself quite easily as she has limited reflexes. She loves drawing, dressing up, going to nursery and is extremely determined which we believe has helped her a lot. We also think if MTM had been diagnosed at birth she wouldn't be the happy and generally normal child that she is.

March 2010: Keely is six years old now and doing really well! DNA tests have shown that I am not a carrier which makes Keely the first case in our family. Which is good news for her sisters as well.

Keely has started main stream school, where she is doing really well, she has a part time helper who aids her getting about, does physiotherapy exercise with her during PE lessons (which has helped a lot with her balance) and watches her in the playground. She also has a designated first aid qualified person to help her at lunchtimes due to the risks of choking whilst eating. Fortunately she has only had to put the training into practice twice! Keely found it difficult to mix with the other children for quite a while due to her fear of being knocked over - thankfully now they understand her and she understands her capabilities a bit better and she is growing in confidence every day. She is very good at art and had a piece of her work exhibited in the local museum for the arts festival. She is also very good at maths and has capabilities far above her age level. She is due to start year two in September 2009.

We also had the added complication that we found out she had 30% hearing loss in both ears, which for a while used to get her into trouble at school as they thought she wasn't listening in class. This is not related to the MTM, but is something that came down through my family as I had the same problems. We took the decision with prior consultation with our consultant to have hearing aids fitted rather than taking the risks associated with anaesthetic and having grommets fitted. Although this has improved her speech tremendously, there are still certain sounds she has problems with.

We decided this year to take the whole family to Florida to Disney as Keely is princess mad and still regularly gets dressed up - even though Hannah Montanna is gradually taking over. We did need a pushchair to help her get around as she got tired in the heat and humidity which we find causes the most problems - but this did not stop her going on the big rides as she is quite tall for her age. She loved the wet rides and having her face painted. We had a fantastic holiday and Keely wants to go back every year!!!!!!!!!!!!

We have also moved house to help with Keely's mobility as our last house had a really steep garden, and this has improved her confidence as she can pretty much move around by herself. Generally everything is great, no real illnesses or chest infections and her last check at Birmingham Childrens Hospital was January this year. It went well, her balance and mobility have not deteriorated. She now only sees the consultant annually and they will monitor her muscle strength and check for any signs of scoliosis. Hopefully things will continue as they are.

November 2012: Keely is now nine and in Year 5 at school. She is still doing really well academically and is in the top stream for mathematics. She still has one to one support at school at break and lunchtimes for her mobility issues, but interacts with her peers quite well with some gentle coaxing from the school. Mealtimes are and will always remain an issue and we have had a few choking episodes fortunately her diet is such that most of the obstructions would dissolve anyway. Science is one of her favourite things and in a recent trip to the Natural History Museum she outwalked her sisters and told us that it was the best day of her life ever!!!!!! She had a telescope for her birthday by request and has moved on a lot from the princess phase.

Keely still sees a consultant twice a year, this now involves a lung function test, mobility test and physical test, she is points scored to check stability and deterioration. She has been on daily small doses of antibiotics for a few years to combat regular water infections which has been caused by the MTM restricting her ability to fully empty her bladder. There has been a slight improvement in her hearing which is still checked every couple of months, but we are waiting the results of an MRI scan which she had in September 2012 investigating fluid in or behind the ear. Keely is beginning to realise her condition and her limitations, she does get upset about not being allowed to her friends parties, school discos unaccompanied. Her major annoyance is the fact that she cannot go to friends’ houses after school and the major, major, major problem not being allowed to SLEEPOVER!!!!!

We try to keep things as normal as possible and Keely certainly tries to act like her sisters

September 2015

The results of Keely’s MRI scan were not good and this resulted in her having a mastoid operation in September 2014, she has ended up with a rebuilt titanium eardrum in her right ear and a grommet in her left ear. Straight after the operation her hearing became 100% in the ear with the grommet but remains 30% reduced in the right. Keely was so happy (not when she came round from the anaesthetic) but when she realised she would not have to wear hearing aids anymore.

Keely is now in secondary school which was a massive transition for her, and did not come without issues. The mobility around school was difficult due to the volume of traffic and also as she was used to being stationary in the same class all day at primary school. We have had assistance from Physiotherapy, SENCO, IDS and her statement has helped with extra help at lunchtimes as she is still unable to swallow.

She now loves PE though which I never believed would happen and she participates as much as she can in lessons and I am told she is very competitive! Academically she has always done really well and this continues, even if is it hard to get her to do her homework as like every young girl she is too busy with her phone, ipad and watching the hunger games repeatedly. Looking forward to choosing her options and progressing to her GCSE’s.

She loves make-up and clothes just like her sisters and friends, and is absolutely amazing with a curling wand and black eyeliner in fact I ask her to do mine for a night out. She is very focused and ambitous and wants to be a fashion designer when she leaves school with her own brand and make up range! She is rapidly turning into a young lady and I can see the attitude developing in line with the other females in the household.

She had a photoshoot for her birthday as a present – the results I think are WOW (but I am biased).