case study

Gaucher Case Study – Ellie’s Story (type 2)

In this story Ellie’s father describes Ellie’s short life. Ellie had Type 2 Gaucher disease.

“It was Sunday the 6th of July 2003 at about 04.55 am when my wife Jill went into labour. As our son Cameron was only four years old we called my mum and said we would drop him off on the way to the hospital. We were all excited especially Cameron who could not wait to have a baby brother or sister.

At 07.01 am we had a beautiful blue eyed baby girl Eleanor Lily. As it turned out to be quite a traumatic birth and Ellie was a bit dazed, she was taken to special baby care for observation, everything turned out to be fine or so we thought and she was released the next day. We were so happy and Cameron doted on here. Everything seemed to be perfect until early September, when as my dad was holding Ellie she seemed to stop breathing and turn blue. This was absolutely terrifying. We rushed straight to the hospital, where the doctors’ diagnosed reflux and our baby girl was prescribed gaviscon.

This was just the beginning, Ellie started to have seizures which became more frequent, eventually after being admitted to hospital to have more tests it was found our little girl was having problems swallowing so she was transferred to the Royal Victoria Infirmary in Newcastle. Ellie was put in the special care baby unit as it was thought her feeding and breathing tubes might be reversed so she had to have a bronocohosopy, this came back negative so we were back to square one.

On the 18th November 2003 the doctors suggested Ellie might have a metabolic disorder called Gaucher . “What was this” we said? Ellie would have to have a bone marrow biopsy as if she hadn’t been through enough.

On November 19th 2003, our son Cameron’s 5th birthday he stayed with us in the hospital so we could see him open his presents and see his baby sister. Little did we know this would be a day we would never forget. We received the most devastating news imaginable.

Our little angel Ellie had Type 2 Gaucher disease and she would only have a very short life.

The doctors suggested we keep Ellie in hospital but we knew instantly we wanted to take her home where we could care for her and feel some sort of normality, not just for us but Cameron as well. We obviously could not tell Cameron what was wrong with his baby sister but it’s as if he knew, he helped set her feeding machine up, give her medicine and even suction her, it was unbelievable.

The next months were the most heart breaking of our lives, even though she was terribly ill she still managed to smile and every time she heard her brother’s voice she would get excited.

Even though we were told the outcome of this terrible disease, we could not just do anything so we emailed every possible doctor imaginable from America to Israel, and also took Ellie to Great Ormond Street Hospital in the search for any sort of hope, but to no avail.

On the morning of the 9th February 2004 Ellie’s breathing became worse so we took her to our local hospital where we got the news we had dreaded. For the last three months her throat muscles had collapsed and there was nothing that could be done except try to make her as comfortable as possible. Later that day, with all her family present and in our arms, our precious little girl left us to be an angel.”

Batten’s Disease Case Study – Jamie

“On the 11th October 2003 I gave birth to my beautiful baby girl Jamie, she seemed so tiny and perfect. Over the next 3 years she developed like every other little girl, she was full of mischief, so strong minded and was into everything, I certainly had my hands full!! In February 2007 Jamie had what I now know to be an absence seizure while at nursery, she was taken to hospital but within hours was up and about, and Doctors thought she may have epilepsy but she was not put on medication straight away just in case it wasn’t. Over the next couple of months Jamie had numerous seizures, she was sent for an EEG that confirmed she had epilepsy, Jamie started on an anticonvulsant medicine; this seemed to work to begin with but then she started to fall over and have more and more vacant spells. I used to joke that Jamie had inherited my clumsiness and was in a world of her own but she slowly started to deteriorate and I knew it was something more. By the time we managed to get an appointment with a consultant in October 2007 Jamie was unable to stand up and was in a state of constant seizure. She was admitted to hospital and her epilepsy medicine was changed, yet again within a few days she was up and about.”

“On the 3rd April 2008 my world fell apart when it was confirmed that my beautiful little girl had Classic Late Infantile Batten Disease. After that I was on a roller coaster of emotions, watching Jamie lose her sight, ability to walk, talk and eat. Having to explain Battens to people you meet and fighting for funding for every bit of equipment she needed was completely heart-breaking, but Jamie showed such strength in her own way that helped me get through it too. One of the worst feelings I had was the feeling of being totally helpless as I couldn’t save my daughter, a cure needs to be found for this cruel disease and raising money and awareness is so very important.”

Gaucher Case Study – Mia’s Story (type 3)

“My name is Mia and I am 12 years old. I live with my Mum and Dad, sister Skye (9) and brother Josh (6). We have a dog called Toby. I have lots of interests including riding, on my special tricycle, swimming, cooking (my favourite) but most of all I love being with my friends and I have many!!

Just after my first birthday my Mummy and Daddy found out I had Type 3 Gaucher disease.”

Coming to terms with and coping with Mia’s condition were very challenging in the early days to say the least. She presented with classic neurological symptoms. Stunned, we were hurled reluctantly, into a world totally unfamiliar to us. (Nothing really prepares you). Hospital appointments which included, procedures and investigations became routine. We made frequent visits to Great Ormond Street and our local hospitals. In addition we saw physio -therapists, occupational therapists, dieticians, speech and language therapists etc. We undertook training quite early on so that we could give Mia her enzyme replacement therapy at home. We felt it was important to keep hospital visits to a minimum and keep life as normal as possible. The biggest challenge for Mia and our family came when, at the age of three she was invited to participate in a drug trial. It was a very stressful and as it turns out unsuccessful experiment.

Mia is affected by Gaucher in many ways. She has gross and fine motor skill problems due to stiffness and her general body tone. She is ataxic, has processing difficulties and has saccadic initiation failure (she can’t move her eyes from side to side). She had choking episodes and frequent chest infections when she was younger but has made great improvements in these areas. Mia whilst compromised is bright and very sociable. We’ve noted how she brings out the very best in everyone she meets. “She’s a real inspiration” we’re told frequently.

A few years ago a fourteen year old friend cycled from Hayling Island to Paris in order to raise awareness of Gaucher disease and money for a tricycle so that Mia could join us on bike rides. We are privileged to have friends who have run marathons, rowed oceans, held tennis tournaments, and a charity ball. Friends of Mia have made and sold cakes to raise awareness and funds to try to help beat this disease. We’ve met some incredibly special people. In particular families who like us have had to somehow draw on and identify the positives from an unfortunate situation.

Mia writes; “I now go to a school called St Anthony’s in Chichester which is about 25 minutes from my house. It is a school for people with moderate learning difficulties. I am doing so well there. In my first two terms I have won special awards for my achievements. I am very proud of this. It has an amazing indoor swimming pool; it has good sports facilities and a lovely art room. My favourite lessons are art, drama and cookery. I can do all these things but I find PE the most difficult. This is because my balance is not good and I find it difficult to run but I always try my best at everything. My mummy says that although I have an unfortunate condition I am lucky because I am such a positive person with a great attitude to life and get so much enjoyment from everything I do”.

Batten’s Disease Case Study – Jenson

Jenson Belkevitz is a lively, fun and endearing little boy. At just four and a half years old, he was diagnosed with Late Infantile Battens. Jenson has already gone blind and is starting to experience other symptoms of the disease. Sadly he is unlikely to live to see his teenage years.

Despite his condition, he attends mainstream school in Newport Pagnell where he is a popular member of his class and loves to play with the other children. He adores trains and music and has enjoyed family holidays at holiday parks specially adapted for blind children, with his parents and two older sisters.

One year on from his Batten diagnosis Jenson is still finding amazing ways to adjust to his disabilities but he is a shadow of the boisterous little boy he used to be. These days, although he chatters cheerfully and incessantly, the sounds he utters are mostly baby sounds which only make sense to his close knit family. He has epilepsy – tonic-clonics where he leans or falls to one side. He cannot control his painful shaking legs. He also has Parkinson’s gait which gives him an uneven shuffling walk. And his walking is now severely limited. After a chest his condition has deteriorated so that he can no longer climb up the stairs or walk more than a few steps. He cannot be left alone and because of his constant seizures, his Mum Cheri sleeps with him.

Gaucher Case Study – Liam’s Story (type 1)

I ‘got’ Gaucher Disease for my 40th birthday in 1992 and, in a perverse way; it has turned out to be the best ‘birthday present’ I ever got.

Having presented to my GP in Dublin with extreme tiredness, which I attributed to a combination of heavy smoking and too-long hours working to run a struggling technology company, he advised me see a haematologist as my blood counts were ‘all over the place’. Several visits later and my still mystified haematologist referred me to Prof. Cox and his team at Addenbrooke’s. They confirmed that I had Gaucher disease, something neither I nor my haematologist had ever encountered. The ‘good news’ was that it was Type 1 and had only started to ‘kick in’ and it would another 5-10 years before it really started to impact on me by which time, a treatment, then being trialled, would most likely be available.

Twice a year since, I have been attending Addenbrooke’s for monitoring; and in 1997, they advised that I needed to start treatment as my condition was deteriorating. At this stage I was getting bone crises, my spleen was 16 times larger than normal and I could hardly go an hour without feeling exhausted. After prolonged negotiation and with the assistance of Prof Cox, we finally managed, in September 1998, to get approval from the Irish Health authorities for administration of Cererdase, the first Irish patient to do so.

I had to retire from my job as it was expected that it would take up to two years for the treatment to work, if at all. And this, as much as my medical condition, was a huge shock to my system, which I found very difficult to cope with. I also had the worry of how to provide for a family of 6 children ranging in age from 25 to 7 and my former wife. Fortunately, within 6 months, my condition had stopped worsening and within 18 months I was declared well enough to return to ‘sedentary’ work.

During that recovery time, I had something of an epiphany and vowed that I was not going to waste my reprieve chasing the corporate dollar. I set up a small consultancy with the specific aim of working just enough to pay the basics, having by now realised how little one really needs to get by (especially if you have a supportive partner; now my wonderful second wife). I worked hours that suited me, mostly on projects that interested me and only with people I liked; thus freeing me to pursue other long-held but frustrated ambitions, most of which I have gone a long way to fulfilling over the past decade. I have had time to spend with my family, including several grandchildren. I have been able to give something back through volunteering with my local Credit Union and charities for the elderly and have, through working with Habitat for Humanity, helped build houses for disadvantaged communities in such exotic places as India, Kyrgyzstan, El Salvador and Chile. My time on golf courses has increased immeasurably, though not my scores! And I have been able to indulge my passion for the outdoors through innumerable Hill-walking trips with a local club.

I still need Cerezyme infusions every fortnight but I see it as a minor but necessary inconvenience.

Life is good and I’m greedy for lots more of it. So thank you Gaucher! More particularly, thanks to the geeks of medical science and the wonderful teams at Addenbrooke’s and Dublin’s Mater and last but not least, the Gaucher Association whose support, especially in those dark distant pre-internet days, was invaluable in keeping me informed.

Batten’s Disease Case Study – Laura

Laura was six years old when we first began to think that there might be a problem with her eyesight. She had started to hold her reading books closer to her eyes and was creeping closer to the television. I remember feeling quite upset, thinking that my perfect little girl might need reading glasses. I had no idea what was about to unfold.”

“After a series of medical appointments Laura was misdiagnosed as having a macular dystrophy. This condition purely affects eyesight. It was expected that she would remain partially sighted for decades. By the age of 7 she was completely blind. We were just getting used to blindness when after three years of living with this misdiagnosis, we were given the devastating news that she has Batten Disease. I cannot in such a short letter give an adequate description of how this constant & unrelenting loss of abilities affects everyday life. All I want to do is care for my child, but her needs are constantly changing and she gets more and more dependent. It is absolutely heartbreaking and completely exhausting. I read a quote recently which is this “When a parent dies, you lose your past. When a child dies you are robbed of your future.” I try very hard not to think about the future. The medics have told me what to expect yet I continue to hope that it won’t happen. Thankfully we were not completely alone after receiving Laura’s terrible diagnosis. Within minutes of receiving this devastating news we were handed a Batten Disease Family Association information leaflet about the disease. A major part of the BDFA’s work is in offering emotion support to families. It is hugely valuable to meet with other affected families at BDFA organized family days. This is often the only time you are able to talk and share with people who really understand.”