Patient Stories

Ellie's Story

Our names are Jemma and Neil and we are the very proud parents of Ellie Louisa Grace.

Our first child, a boy, was born healthy in June 2005 and we also had another healthy boy younger than Ellie in February 2009. I was 21 and Neil was 22 when we had Ellie. We live in Leigh a small town outside of Manchester in the United Kingdom.

Ellie was born on 11 June 2007, 3 days late weighing 9lb 3oz by emergency C-section. We had absolutely no indication that there was anything wrong with her. We were expecting a "normal" healthy baby girl. All scans where normal. After a long labour it was decided by medical professionals to do an emergency C-section on the grounds of "failure to progress" Ellie was born at 7.30pm. Ellie was helped to breathe and taken straight to special care where she later started to have seizures which were controlled with Phenobarbitone medication.

She was given a scan of her head which revealed nothing abnormal and then was sent for a CT scan which revealed a crescent shaped shadow. Because of this shadow and because the seizures had not stopped it was decided to send her for an MRI scan which showed some sort of damage to the brain.

A doctor came to see us on day 3 and asked me and her father if Ellie looked like anyone in our family; we replied no. He then asked us if we'd heard of achondroplasia. We told him no. He then said dwarfism....... he told us that that the tops of Ellie's arms and legs looked shorter than the bottom parts and her large head gave the impression of dwarfism.... I couldn't stay any longer and left (my heart wanted to stay my legs just walked). Ellie was given x-rays and it was proved that Ellie did not have this.

On day 5 of Ellie’s life Dr Kay Metcalf came to visit another baby and was asked to come and look at Ellie as she was a mystery and none of her doctors knew what was wrong. Dr Metcalf agreed and came to take a look. She told us that Ellie looked like a child with either Sturge-Weber Syndrome or Macrocephaly- cmtc.

Ellie was discharged from hospital on her 11th day of life (I haven’t gone into too much detail on our feelings during the "hospital" time because I just can't - it's still, after 5 years, too raw) We brought Ellie home with an appointment to see Dr Metcalf. Where she told us in her opinion Ellie did in fact have M-CM because she showed all of the features of the syndrome.

I'm not going to lie, we were devastated and I suppose in some ways we still are. I know when we were told this I personally went through a sort of grieving process for the baby we thought we were getting, which I know may sound awful to some of you but is the truth.

Ellie was an angel from the minute we brought her home. She slept soundly (I think this was the medication). She reached little things like smiling and cooing on time. Ellie started to sit on her own at around 12 months old, we literally used to hold her in place then walk away and she'd stay there, it took her a lot longer to go from lying down to sitting all on her own.

Ellie walked at around 3½ -this was on one Xmas Eve and she literally just let go of the sofa and went the length of the room - total and utter joy to us. It took her a lot longer to talk (where people understood her) and this only happened around 6 months ago and after many years of speech therapy. Ellie even learned SignAlong and used this to try to communicate, or would point to a cup for juice.

Ellie has Piedro boots to support her ankles as she has low muscle tone. She also has a 1cm leg discrepancy, and is much larger on her right side compared to her left. Ellie has recently been given her very own pink wheelchair for long distances (she gets a lot of knee pain if she walks too far). Ellie was also born with an open duct in her heart, which was closed in 2010 via key hole surgery.

At the minute Ellie attends mainstream school, she has lots and lots of friends (and I think because we told the parents about Ellie) she has had absolutely no bullying so far. School have helped Ellie to progress in her understanding and physical ability. She is awaiting Statementing at the moment so that she can have 1-1 support. Ellie is very repetitive, she will repeat what she has to say over and over or until you repeat what she has said (I think this comes from the times we couldn't understand what she wanted.... we used to ask her to repeat) so she now does this on auto pilot. She is also very touchy feely, she holds your hand, cuddles or has to have her feet on you 24/7. Ellie was originally on school dinners but she started refusing to eat these so we have her on packed lunches now. She absolutely hates veg and fruit (apart from apples and pears).

Ellie has never needed to be shunted but has also only ever had the one MRI scan. We are at present waiting for an appointment for another MRI but Ellie needs to be sedated. This is only due to her having a 45 minute prolonged seizure in the school holidays - she hasn't had any since.

Ellie is a fantastic sleeper; she goes to bed when told and only gets up when we get up. We have had a few occasions when she needs to be changed in the night or needs to be placed back in bed because she’s woken up. She sleeps in a "normal" single bed (without railings or guards) and has up to now never fell out of it. She is not toilet trained as of yet but we are not pushing her to do this.

Ellie appreciates absolutely everything, I honestly think we could wrap up an empty box and she would love it. She doesn't however have any awareness of "stranger danger" and on a few occasions she has taken hold of stranger’s hands at school and walked in with them (with me shouting and chasing after her).

I have to add that Ellie is a beautiful, well behaved angel. She does as she's told; says please and thank-you and hasn't yet ever cursed.

We as her parents are so proud to call her our daughter!

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About Heidi Heidi Frost lives in the United Kingdom. She is married with three children. The eldest, Jack, was pre-natally diagnosed with profound disabilities when Heidi was 28 weeks pregnant, although he was 8 years old before he was correctly diagnosed with M-CM. Jack is now 17.

Heidi is a full time Mum to Jack and his siblings, and spends her time caring for Jack, attending medical appointments and negotiating the minefield of obtaining necessary services for her son.

Heidi created a website about Jack in 2005 and found that telling Jack’s story was an incredibly positive and healing experience and she is looking forward to assisting other M-CM families to do the same. In her spare time she enjoys writing about her life with Jack on her website and spending time with her husband and children.