Wes and I had only been married for 9 months when we found out I was pregnant. We were overjoyed at the thought of having a little one, it was like the icing on the cake. Anna-Grace made her appearance a week early. When Anna was born the midwife’s wrapped her in a towel and briefly handed her to me saying ‘Her face is clear’. I didn’t have a clue what they were talking about. All I wanted to do was hold my beautiful baby. But this was not to happen! Anna needed some oxygen, they said she was not well, that she had a large birth mark & needed to go to NICU (Giant naevi covering top half of body), It was all then a bit of a blur. I needed attention so had to wait in the room whilst Wes went with Anna. When I finally got to NICU I could at last see my little one. Only she wasn’t so little she was 81bs 13.5oz & just about “fitted into the incubator! She looked so fragile in the incubator & I longed to hold her. The midwives were very kind. They said that once the paediatrician had been I could hold her briefly. Whilst I was in the delivery suite, Wes said that he put his hand through to Anna & she immediately gripped his little finger so tightly that he knew this little girl would be a lot stronger than her parents could ever be.
The doctors had very little knowledge of Anna’s condition & were going onto the internet to get more information; it was scary that they didn’t know what was wrong. They said she will need an MRI scan to see if her brain was affected!
There was no room to stay on NICU, so I had to stay upstairs on the maternity ward. It was upsetting hearing all the mothers & babies together whilst my baby was downstairs. Although exhausted I couldn’t sleep all night as all that was going around my head was will my baby be alright. I longed to be near her.
As soon as it was light, we rushed down to see Anna & there was a room full of doctors & nurses. They said she had a couple of seizures in the night. So, they were going to bring her MRI forward. Anna was put on medication for her epilepsy.
Every day we stayed there the doctors brought us more devastating news. The MRI scan results showed that Anna had melanin pigments on her brain. They said that she would need to be transferred to a bigger hospital for more specialist treatment. The paediatrician said she had found out that Dr Atherton at G.O.S.H. was doing research into the condition so we opted to go there. After two weeks on NICU at Kettering Hospital we went via ambulance to GOSH. It was a relief to get some answers to our now multiple questions.
A couple of nights into Anna’s stay I noticed she was not herself. She wasn’t feeding as well & she had a strange cry. I just felt something wasn’t right. I asked the sister on the ward to come in. She measured Anna’s head and it had swelled slightly. It was quite late in the evening by this time & we were sent down to the Neurosurgery ward for an emergency brain tap. This confirmed Anna’s brain was swelling with fluid & she needed to have an emergency shunt operation. We felt like we had been run over! Exhaustion & anxiety were at their foremost. We had three Neurosurgeons around Anna’s bed explaining what needed to be done & that Anna had developed Hydrocephalus a complication from her Neurocutaneous Melanosis. We looked at one of the Neurosurgeons & we asked if he would operate, he operated the next morning. The Neurosurgeon has been magnificent. It felt like an eternity waiting during the surgery. Anna was transferred to the Neurosurgery ward from then on. The staff on the ward were excellent and ever so kind to us.
Anna had another MRI scan & again the results were not good. I always remember the consultants asked us to leave Anna in her room & come into the parent room. They told us that the scan showed some tumours on Anna’s spinal syrinx. They believed them to be malignant & due to the complexities of them untreatable. After all Anna had been through, I was stunned. I couldn’t take it in. The tumours were so rare they had never been seen inside a human body before. Yet again another completely rare condition.!! They were so very kind when they told us. I remember thinking she can’t go now after all she has been through. Going back into her room & looking at my beautiful baby was heart-breaking, I just hugged & hugged her.
The neurosurgeon removed the tumours & sent them to histology when Anna was 2.5 months old. It was a very long & complex operation as the tumours were attached to the spinal cord. After the operation Anna had to lay flat & wear a specially made spinal jacket to keep her spine straight. We still have the jacket in the loft & will show her it one day. She wasn’t a fan of it at the time as it was made from padded plastic & it wasn’t the most comfortable thing to wear but was necessary. She had to wear the jacket for quite a few months.
We at last had some GOOD news, Anna’s tumours were benign, so the future seemed brighter once again. Our Anna-Grace was such a little fighter that after a week in HDU she recovered well.
A week later Anna got very sick & had green vomit. She deteriorated very suddenly & it was very frightening. Unfortunately, the shunt had got infected in the brain & she needed to have strong Intrathecal Antibiotics to stop the brain fluid infection. It was so very scary seeing all these wires & tubes coming from Anna’s brain with strong drugs being administered this way. I was scared to pick her up, she looked so vulnerable. The nurses were amazing, nothing seemed to faze them. They could see my hesitation, so they helped me to support Anna & encouraged me to feed her as usual. It was a bit tricky, but we managed it together somehow. When she was in my arms, she would look up at me & I could see she was comforted. I just wanted to run away with her & wrap her up in cotton wool. I felt so helpless seeing my baby going through so much in her little life. After 2 weeks of Antibiotics Anna had her second shunt inserted. It was a relief to have all the wires & tubes out of her brain. She looked so little laying there with her head all bandaged up.
We had been in hospital for over two & half months by now & didn’t want to leave Anna’s side. But the nurses could see that we needed to go out & get some air, so they encouraged us to go out with some friends that had come to see us. We went rather reluctantly & I remember it seemed so strange going out & seeing everyone getting on with their lives. It was like we were in vacuum & life was on hold.
We were finally discharged to go home when Anna was 3 months old. Although we were thrilled to at last go home & start our new life as a family, it was a very scary prospect. Anna had such complex needs & through her short life we always had doctors & nurses around but now we were on our own! Our family were a great support, but they all lived far away, We had the most supportive friends & their kindness we will never forget. We soon gained confidence & it was great to start family life at home.
Controlling Anna’s seizures was a challenge when she was a baby due to the weight fluctuations & she would have around 30 to 40 mild seizures a day. We are fortunate that Anna has an excellent Neurologist who managed to control the seizures well with medication & since then she only has the odd breakthrough seizure every now & then.
Anna has always shown such determination & strength. We were told she would never walk & would have severe learning difficulties, but Anna had her own ideas! She taught herself to sit up unaided at 9 months which considering all she had been through was amazing.
Around this time Anna sadly had developed Intra-spinal cysts where the spinal tumours had been. This was drained at GOSH. Anna had to lay flat for 24 hours after the operation. Which when she was younger wasn’t such a mission, but Anna had now learnt to sit up & was very pleased with herself, so I spent the whole night trying to lay her down!! The consultants were amazed she could do this considering what she had just been through!
Anna has another condition called Dandy Walker Variant which really affects her balance. But Anna didn’t let this get in her way, just like everything else that she had to face she worked around it & just got on with a constant smile on her face.
The next few months Anna made good progress she taught herself to stand not like most children by holding on to something but by going to the middle of the room & with real effort & determination she would patiently try to stand up. When we tried to help, she didn’t want it. Eventually she mastered it & was so pleased with her achievement. She started to walk at 18 months old. But due to all her conditions, she would take a few wobbly steps & then would fall to her knees. Then she would just pick herself up again & try once more. All the time with a smile on her face. We had special trousers made to protect her poor little knees.
Due to all the brain conditions Anna’s speech was very delayed. We knew she could understand everything we said & most times we could understand what she wanted but sometimes we couldn’t & you could see the frustration on her face. Anna had speech therapy & eventually she started to speak little sentences. Now she can communicate very well although for strangers I must interpret at times. It is a joy listen to her speak & hear her cheeky sense of humour coming out.
When Anna was 2.5 years old, she developed yet another condition. She was diagnosed with Progressive Syringomyelia. Which is again a condition affecting her spine. We noticed Anna’s mobility was getting less & less & she had started to get severe headaches; she would hold her head & cry. Her Neurosurgeon performed a Forum Magnum Decompression at GOSH which involved taking away some off her brainstem & neck so the fluid could move more freely & not build up. I was heavily pregnant with Kaede our other daughter at the time. Unfortunately, over time the fluid kept increasing so Anna had to have a Syringo-Peritoneal shunt inserted the month before her 4th birthday. It was very scary Anna having two shunts. The later one can be more unstable than the 1st due to where it is. This proved to be the case as a year later the shunt blocked in the stomach & had to be revised at GOSH. Since then, the shunt has managed to keep the syrinx in the spinal area from getting bigger but sadly due to all the damage to her spine caused by these conditions Anna lost her mobility & spent the next few years crawling around. She could no longer sit unaided & needed full care for all her needs. Despite this Anna remains a very determined & happy young lady & has such a zest for life. She is such an inspiration. I am constantly in awe by the way she accepts what has happened to her & get on with life with a great sense of humour & joy.
It was around this time that we met Dr Kinsler when she took over from Dr Atherton. We were so delighted to have Dr Kinsler on board and her research, skills & support have been excellent. She has proved to be a tremendous & constant support to us throughout for which we will never forget.
We have always encouraged her to be proud of her special skin & although she is a lot more conscious of her appearance, we hope this will continue.
Sadly, Anna’s mobility reduced & she could now no longer crawl, she developed Spinal Melanosis. It was thought to be malignant, so she had to have a spinal biopsy to determine the nature of the melanosis. Specialist tests were performed by Dr Kinsler. The tests were to take around 6 – 8 weeks. Waiting seemed an eternity. As the biopsy was from Anna’s spinal cord it was quite a procedure, so Anna took a few weeks to recover. When She was starting to feel better, she would smile up at me & say ‘I’m happy, I’m getting better now Mummy’, it broke my heart, but I would smile & say’ Yes my darling’. Every day I put on a brave face for the children. We started to film the children everyday, so we had memories, it was so very painful!
At the start of the summer holidays, I got a phone call from Dr Kinsler, the results were back & it was the best news ever. The spinal melanosis was Benign. Never had this been the case before. When I put the phone down, I literally fell to the floor in tears of relief. Kaede & Luca came in worried, All I could manage to say was ‘Mummy is so happy’. I couldn’t wait to tell Wes the news. Tears of joy was on his & everyone else faces when they were told. We know things are still not great for Anna, but having that news was amazing. As the melanosis is covering the whole of Anna’s spinal cord it cannot be removed but we hope some treatment will be available to stop it growing.
As Anna grew so did the leptomengeal tumour which was covering her whole spinal cord. It was heart-breaking to see our beautiful daughter lose her mobility and eventually her ability to sit unaided or turn herself over. Anna found this especially hard and would say to me..”Mummy I can’t do it anymore”. Even as I’m writing this, years later, my eyes are filling with tears at the pain it caused hearing those words and being helpless to stop it happening. Anna learnt to shuffle across the floor, but this meant very sore elbows and knees. She was determined to do this by herself but eventually she was unable to do this. Holding onto her independence is so very important for Anna. As a family we do all we could to support her.
When Anna was 13 years old, she started treatment for the leptomengeal tumour which meant weekly trips to Great Ormond Street. It was a six-to-eight-hour car journey each way. We spent half the week on the oncology ward and the second half of the week recovering from the trip. The treatment took its toll on Anna. But despite this Anna still had her cheeky sense of humour and had all the staff laughing. She has the unique ability to light up the room and bring such energy and light to a situation. The doctors were amazing through it all and so kind to Anna.
Anna has become much more aware of her appearance during her teenage years. For a while she didn’t want any photos of herself. We always tell her how beautiful she is, but she would say “No I’m not, delete the picture!” We always reassured her that she is and It’s lovely to see her now finally except her difference and her beauty. She is now happy to have photographs taken. Having friendships with others with CMN and attending some of the charity support events have really been beneficial to Anna.
Anna has become much more aware of her limitations and often gets frustrated that she cannot do something. As a family we try to anticipate her needs and feelings, but we don’t always get them right. We try to give Anna as much independence as we possibly can and do activities that she can have full involvement in. This is very important to Anna and is a natural part of growing into adulthood. It’s a challenge to get this right as Anna needs 1 to 1 help with everything. She now has a motorised wheelchair with specialist seating. We asked if she could have training to drive her chair herself. This would give her so much independence and it’s important that she has control over areas of her life where she is able. Anna attends an amazing special school and they arranged for her to have a training course with whizz kids. I was so moved how Anna took this so seriously. You could see how much this meant to her. After a few months Anna had a driving test. She passed with flying colours! It’s so lovely to see Anna having fun in her chair and the independence it gives her. I have some very special memories of Anna wheeling up and down in the park with her siblings on bikes and scooters. It lifts my heart to see her not as a spectator but joyously taking part.
Anna has regular brain and spinal MRI scans to check the leptomengeal tumour. It is still growing slowly. She has specialist wheelchair seating and my husband and I provide Anna with 24 hour care. Anna gets severe pain and violent leg tremors which need medication and physiotherapist input.
She attends a special school when she is well enough and has an amazing time. They miss her happy bubbly personality when she is not there. School have been so supportive, and Anna spends part of her day in her wheelchair and the other part on a specialist bed. Unfortunately, she is taking more and more time in her bed due to the pressure on her spine.
A few years ago, we were asked by her paediatrician if we’d thought about visiting the local children’s hospice. This was a big jump for us all. I thought hospices were for end stage and we weren’t ready for this. We hesitantly went along for a visit, and it was a very different experience from what we anticipated. Everyone was so friendly, and the place was vibrant and full of laughter. We go a few times a year as a family for respite stays. They have sibling workers at the hospice that work along with Anna’s siblings. This is very important as the whole family are affected when you are living with a terminal diagnosis. It has been a lifeline for us the past 8 years.
Anna is approaching 18 in March which is something we didn’t think possible early on. Every day I look at my beautiful girl and think how blessed we are to have such a wonderful, caring, and inspiring young lady. She has a special gift of touching the heart of all she meets. It’s an honour to be her Mum. Yes, life has thrown more at us as a family than I ever knew would be possible to cope with, but it has also given us such a close happy bond as a family and Anna has enriched our lives more than we could ever have imagined.