When I first heard the words ‘Langerhans Cell Histiocytosis’ I sent myself in to a craze researching and reading anything I could find online. At first I came across a lot of medical journals which I didn’t have the capacity to digest. Then I typed in ‘Langerhans Cell Histiocytosis, manchester, England’ and little Ava’s face popped up. I instantly took to facebook, typed her mum’s name in and sent a message. Kirsty replied straight away, I told her we were currently in RMCH and that we thought Jack had LCH. She promised to answer any questions I had and became a sounding board over the coming weeks. i’ll be forever grateful for that.
Here she shares gorgeous Ava’s story;
“This is my Beautiful princess Ava Mae from Miles Platting, Manchester. She was just 5 months old when she was diagnosed with LCH (Langerhans cell histiocytosis) with risk organ involvement of the liver and spleen on the 26th Nov 2012. Leading up to her diagnosis symptoms were unusual abdominal rash, persistent ear infection, several lumps on her head, screaming fits, cold sweats and a large liver and spleen.
We spent weeks going backwards and forwards to the GP; it was only until the second lump appeared that she was referred to the paediatrician who then diagnosed Ava after many tests. Unfortunately, 2 blocks of chemotherapy didn’t work and Ava had a Bone Marrow transplant on the 2nd May 2013 from an unrelated donor. Before her transplant Ava had over 100 blood and platelet transfusions (before the age of 1!) Ava was doing really well and was over 2 years post transplant when she started suffering with horrible head aches and had some speech problems as well as sickness. I took her to the hospital in January 2016 but they just monitored her overnight and sent us home. Things got worse so I went back to the oncology ward ‘day case unit’ and pleaded with our Consultant to scan her.
Luckily he did and they found a large tumour at the back of Ava’s brain blocking fluid and causing lots of pressure. We stayed at the hospital for some time and they de-bulked the tumour. We were allowed home for a week or so and Ava started to deteriorate again so I took her back and scans confirmed too much pressure again so they decided to perform emergency surgery to remove the rest of the Tumour. We were on the HDU unit for about 2 weeks then ward 78 for 2 weeks before we were able to come home. Ava’s recovered really well and started big school that September, it’s been a crazy time but we’re over the worst now. Since finishing treatment she has been diagnosed with Diabetes Insipidus and Growth Hormone Deficiency which are related to the disease. Despite all this she is doing amazing and we love her so much. Ward 84 and the bone marrow unit at Royal Manchester Children’s Hospital will always remain close to our hearts.”
Huge thanks to Sam for taking time to share Tali’s story and helping to raise awareness. it’s not easy to find the time to write with two children, never mind seven! You are a super mum!
I know every story has been hard to read, process and in some cases believe but when Lisa got in touch with me I genuinely wondered how this could happen to one family. Yet again though, in great adversity this family has shown such unbelievable grit, compassion for others and determination to make things better for other families in this situation. truly inspirational.
Poppy & Evie’s Story
Poppy and Evie are identical twin girls. They are three years old. From four months old they showed signs of being unwell. Although they were constantly vomiting and had blood in their nappies they were repeatedly diagnosed by a string of doctors as having an allergy to milk. When they were only 10-months old, Poppy & Evie became seriously ill with gastroenteritis and were admitted to Addenbrooke’s Hospital in Cambridge.
Four weeks later, on Christmas Eve 2015, we were told by a consultant paediatric oncologist that Poppy & Evie were suffering from a very rare form of children’s cancer – Langerhans Cell Histiocytosis (LCH). LCH is the most common of the histiocytic disorders. It is very uncommon and is believed to affect 1:200,000. It is a ‘multi-system’ disease that can simultaneously affect many body systems, such as skin, bone, lymph glands, liver, lung, spleen, brain, pituitary gland and bone marrow. A doctor later told us that the disease had spread extensively, affecting their intestines and bowels, skin and ears. Perversely, it was only by the sheer ‘good fortune’ that an experienced dermatologist recognised a tell-tale symptom (a rash on their tummies and back) that the girls were diagnosed with LCH before the disease had affected their bone marrow, brain or glands. Nevertheless, they were in a very bad way.
Apart from very occasional, brief respites, the girls spent most of 2016 in hospital. They underwent three different series of chemotherapy treatment; each one stronger than the previous. The severity of the treatment is life threatening in itself and they were twice admitted to paediatric intensive care. For most of that time they were confined in one room because the chemotherapy temporarily wipes out the immune system and they become neutropenic, making them susceptible to just about every infection and disease imaginable. The girls had nasal tubes and chest (Hickman Line) tubes inserted for all of that time so that milk and medicines such as the chemotherapy drugs could be administered around the clock. Throughout all of this, Poppy and Evie handled everything that was thrown at them with remarkable bravery and fortitude. Unless they were feeling very unwell indeed they were smiling and laughing. They inspired everyone around them including the doctors, nurses and medical support staff and the parents of other patients in the oncology ward.
In January 2017 we were told that Poppy & Evie were in remission. They then began a 6-month maintenance programme involving a relatively low dose of chemotherapy administered every month during a 4-day stay in hospital. The treatment was designed to eradicate any remnants of the disease that may still have been in their bodies. There are no longer any symptoms or visible signs of the cancer. It has gone. However, LCH is a horrible disease and can be very stubborn. It has a tendency to re-occur so the girls will have regular check-up’s and blood tests virtually until their late teens/early 20’s. Whatever happens, we know that as a family unit and the bravery and strength of Poppy and Evie, we will handle it. They are truly remarkable little girls.
Their nasal tubes and Hickman (chest) lines were eventually removed. They are absolutely thriving. They are full of fun and energy , eating like horses and regular little chatterboxes. They are an absolute joy. Having finished pre-school they will begin attending nursery school in September.
Research into LCH and hystiocytosis is not funded centrally by the government because it is so uncommon. In fact the NHS does not record cases of the disease for statistical purposes. To be fair, it is just one of more than 4000 rare diseases that the NHS have to contend with. However, the lack of awareness within the medical profession as a whole means that a great many cases go undiagnosed or are diagnosed too late. This is where we, and hopefully you, come in because as a family, we are determined to help change that. We want to help other children and their families avoid going through the nightmare that we have experienced and continue to experience. We also want to find a way to say thank you for the fantastic medical care that Poppy and Evie receive from the NHS. There is only one registered charity that raises money for medical research into LCH. The charity is Histio UK . It is run by a wonderful lady, Lynn Jackson. 90% of the funds that they raise go directly into desperately needed medical research. With your help we can make an enormous difference. To achieve our objectives, and to honour their bravery and inspiration, we have established the Poppy & Evie Smile Campaign. All of the money that we raise goes to the Histio UK charity.
Emily tells Luca’s story;
“Luca was 4 months old when we noticed he had a rash which looked like nappy rash. It started to appear on his back, torso and then on his scalp (which looked like cradle cap). He was always full of cold and could never seem to shake it off. He had pea sized lumps in both sides of his neck and after 4 visits to the GP we got referred to a paediatrician for an appointment. However, we never made that appointment because while we were waiting Luca’s lymph nodes became huge…..and I mean HUGE.
Luca was 9 months old when this happened and we rushed him straight to our local hospital were they treated him for bilateral ear infections as the skin in his ears was effected too. They took bloods and observed the lymph nodes. After 3 days and no improvement, they made us an appointment at Royal Manchester Children’s Hospital to see an oncologist who diagnosed him with multisystem LCH within 2 hours. That is were the story starts.
Luca has liver, skin and lymph node involvement. His risk organ is the liver and he had a blood transfusion that night. The following day he had a hickman line inserted along with multiple biopsies of his skin & lymph nodes, he had a bone marrow aspirate and numerous scans.
He then started first line treatment for 12 months, he reacted brilliantly to the treatment and and when the 12 months was over he had his line removed, but it came back within 8 weeks.
It only came back in his skin and lymph nodes and so he had a port fitted and started second line treatment. This was horrendous. The chemo made him so poorly; temperature, sickness, lethargic. We were admitted every 3rd week for 4 days while he had his treatment. He then moved on to 18months of maintenance chemo. They kept his port in so he had monthly port flushes, thumb pricks and consultant checks until he finished treatment in MAY 2018. He had his port removed in July. We have still to ring the end of treatment bell as we don’t want to rush things. He is doing well and started school earlier this month.”
I share Emily’s reluctance to rush in to celebrating that treatment is over, the disease is so sneaky and unpredictable that just when you allow yourself chance to feel things are normal it can come back.
I hope Luca continues to do well and have clear scans.
Sarah tells us about her daughters misdiagnosis and treatment for one of the more rare hsitiocytic diseases JXG.
“Chloe she was diagnosed in January 2018 this year with a rare disease in the histiocytosis family called Juvenile Xanthogranulom (JXG).
Chloe kept getting viral infections and ear infections from the start of January 2017 so I kept taking her to the doctors then on one visit to the doctors we got referred to Blackburn Hospital that same day to see a consultant. This is where they kept treating her with antibiotics as her right ear would hurt with infection and was swollen and she had a very narrow ear canal, but the antibiotics never did anything. They sent Chloe for a CT scan in October where it showed that her skull bone had been affected. We didn’t get to know this information until December. We got a call to go into Blackburn Hospital were they told us we had to stay the night.
The next morning the unthinkable happened and Chloe was diagnosed with Langerhans Cell Histiocytosis. We were transferred to Manchester and Chloe was placed under a consultant called Guy Makin. They took a biopsy in January which showed the diagnosis was actually Juvenile Xanthogranuloma, while she was having her biopsy she also had a hickman line fitted so she could start IV chemotherapy and oral steroids. Chloe had 12 weeks of this treatment but it was not working to stop the disease. So we were advised she needed to try other drugs available on clinical trials in London. She was on this trial for 3 months. Making the decision to go on a clinical trial in London meant went we had to travel every week but in July we moved to monthly trips. She’s had no side affects and is doing great in herself. It’s been very difficult going from chemo to treatment in London as she is under St Thomas for eye checks, Evalina hospital for ECG and echo to monitor her heart but most checks at Royal Marsden were the clinical trial is conducted and she has regular skin & blood checks, MRI and X-rays.
I want to get the awareness out there as much as possible and hope one day to meet someone else going threw same as Chloe and be able to help them.”
Sadie Louise Boak was diagnosed with multi-system Langerhans Cell Histiocytosis in November 2017 it’s been a hard 9 months in and out of hospital for the family.
Before she was diagnosed they were constantly at the doctors with her head, she had what they thought was cradle cap, but far, far worse. She had the same rash in her groin and under arms. She also had multiple ear infections and started to grow teeth that she shouldn’t have had until she was older. When the family finally got her diagnosed she had it in her bones, her spleen and liver. She has had 3 different types of chemo which unfortunately have not worked and last week the family received the news last that she will need a Bone Marrow Transplant.
Good luck to Sadie for her ongoing battle.