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Henry pictured on the front cover was diagnosed with Gauchers disease Type 1 just before his fourth birthday. His mother Lucy tells their story:
2005 was a very mixed year for me, my husband Ian and our two boys, Henry now four years old and Rupert aged two. One of my most prominent memories was when we finally found out what was causing our son Henry's spleen and liver to be so large.
How It All Started
It all started after a visit to our GP.I was concerned that Henry had had an unusually long bout of diarrhoea and it was during this visit, by pure chance, that our GP decided to investigate fully and examined Henry's tummy. He became concerned that he could feel Henry's spleen and referred him to the local hospital to have an ultrasound scan. A month passed and Henry attended his appointment that confirmed his spleen was indeed large. Henry then had a blood sample taken and things went quiet.
It was only about two weeks later when we attended our local hospital, St Mary's in Portsmouth, for a check up on our younger son Rupert, who suffers from asthma, that things took a turn. We were explaining to Rupert's specialist about Henry, when she became curious and asked to feel his tummy. She confirmed that she could feel Henry's spleen. She then examined Rupert's tummy and said she felt nothing. At the time she did not raise any concerns and she discharged Rupert saying all was well with him. We went home.
Later that day we received a telephone call from a registrar at St Mary's who explained that Rupert's doctor was sure that she could feel both Henry's spleen and liver and urged us to return to the hospital immediately for tests. I suddenly realised that this was potentially very serious and became scared.
A Long Wait
That night back at the hospital we were told that one of their concerns was that Henry could have Leukaemia. They explained that they would test for this and other illnesses. Henry had to endure countless and very traumatic attempts at taking his blood while they explained the urgency was due to their fears.
In the early hours of the morning they finally managed to get a sample from the vein in his foot and then we waited for the results. We really could not see that there was anything wrong with our bubbly little boy. He had never shown any signs of being ill, he was a strong baby, continued to grow well, was extremely bright and very aware of everything around him.
We could not find an answer ourselves for what was happening to him, let alone explain it to Henry. He was very confused and we were finding it difficult to hide our emotions from our two very scared and confused little boys. Bruises were pointed out to us. "Do you know how he got these?" they asked to which my honest answer was; 'No. Don't most little boys get covered in bruises from their antics?' 'Have you noticed him being tired? Has he shown signs of being poorly?' Questions that seemed so irrelevant to how Henry was.
I became increasingly frightened, frustrated and very angry with myself. I am fortunate to be a full time mother and spend little time apart from my children. I was so sure that if there was anything wrong with either of my boys, I would notice.
A Difficult Time In the morning and after a sleepless night, the first blood tests results started to come back and showed that his platelet count was low but very little else. Ian and I are not the most medically minded people and the doctors explained that the low platelet count could account for the easy bruising. Again, they alerted us to the thought of it being Leukaemia.
Each result led to further confusion as to what was making Henry's spleen and liver swell and no diagnosis or reason behind all of this was given. Luckily, Henry appeared well enough to the doctors that they let us take him home but we travelled backwardsand forwards to the hospital over the next few days.
Then Henry got chicken pox and we had to return to the hospital as the doctors were keen not to take any chances. They did not know how his immune system would cope and Henry, who by now was terrified of needles, had to endure another canular and was put onto an anti-viral drip.
A four day stay in quarantine commenced and still we could not find the reason or words to explain what was happening to Henry. I can remember when he finally fell asleep, I would be able to let go.
I would lie as close as I could to him and watch him, every breath, twitch, murmur. No one could see me and I could finally let my emotions go. Tears would roll down my cheeks and I found it so hard to stop. It was such a terrifying thought that my adorable Henry was facing such uncertainty.
Finally Some News It seemed a life time but two weeks later a viral blood test result came back for Glandular Fever and showed positive. Our paediatric specialist rang us with the result saying that this may account for his large spleen and liver especially in light of all the other negative blood results. When I put the phone down, I burst into tears of sheer relief. Luckily I had a friend round for a cup of tea who managed to calm me down.
Another few months passed and Henry's spleen and liver appeared to stay the same size. Every day we would look at Henry and convince ourselves that his tummy was reducing in size but upon examination our fears were confirmed that there was no difference at all.
The decision was then made that it was time for Henry to have a bone marrow biopsy to investigate further. In August, we attended Southampton Hospital and another emotional and tough experience was to watch our little boy have his first general anaesthetic. The procedure went well and Henry recovered very quickly; we were allowed home to wait for the test results. Henry as ever stunned us with his amazing resilience and bounced back to his normal, vivacious and happy self.
That night the haematologist rang me with her diagnosis. She said that she was certain that Henry had Gauchers disease but needed this confirmed by a blood test. We had to return to Southampton the next morning where she would explain more about her findings and a further blood sample would be needed which would then be sent to a hospital in London for tests. She told me about the support network and spelt Gauchers so we could go away and look it up on the internet.
Searching for Information That night Ian and I searched for Gauchers disease on the internet. I can remember being so terrified by what I read; after all, I had managed to convince myself that there was nothing wrong. I think I was most scared by the fact that there was no cure.
We went back to Southampton for the blood test and saw the Specialist Haematologist. She explained how very rare Gauchers disease is, a bit about the genetic side of things, all of which just went way over my head and then carried on to explain about the treatment.
I can remember asking if there was a cure. When she said no, I just broke down in tears. I was terribly upset for Henry having to have a lifetime of this treatment and felt so very guilty that I could not find a way to fix it myself.
A couple of weeks later and the day after Henry's 4th birthday, we went to see Dr Ashok Vellodi at Great Ormond Street Hospital. Dr Vellodi examined Henry and diagnosed him with Type 1. He then went on to explain about Gauchers disease and answered our questions. He also introduced us to the fantastic and ever helpful Niamh Finnegan, the Clinical Nurse Specialist, but it just seemed so difficult to take in and I could not think of the right questions to ask.
While with Dr Vellodi, we discussed the likelihood of our youngest son Rupert having Gauchers disease. Rupert was then sent down the hall to have a blood test. After a few weeks' wait, the results came back and stated that Rupert was not affected; they could not say if he was a carrier. By this time we had already managed to find the Gauchers Association and had some fantastic support from Tanya Collin-Histed who explained more about the condition, sent newsletters and chatted with me on the phone.
I also discovered during a conversation with a friend that there was a family local to us who have a daughter with Type 3 Gauchers disease. When I told her about Henry and the recent diagnosis, she nearly fell off her chair. After she had recovered she explained how very rare she understood Gauchers disease was and told me about another family who lived not too far away from us!
Starting Treatment Henry went on to have the magic plug as we all call it (portacath) fitted at Great Ormond Street Hospital. This was another traumatic experience, mostly for Henry, but also for us watching our little boy going under another general anaesthetic.
Again, Henry recovered very quickly and it was no time before he was negotiating with us all including the nurses. About two weeks later his treatment started and we had to visit Dickens Ward at Great Ormond Street Hospital every other Wednesday which turned into an outing for the whole family.
Henry would have his Batman Juice plugged into his magic plug! One of the play specialists Jenny worked very hard with Henry to help him overcome his fear of the needle and a Batmobile challenge with a few other bribes and plenty of baking seemed to do the trick.
Taking the Treatment Home
After eight infusions Henry now has his infusion at home; he thoroughly enjoys having our fantastic nurse James who is teaching me how to take over the infusions. I have managed to take the gigantic step of doing most the procedure and with James' excellent teaching and patience, I will undoubtedly be confident enough to take it over fairly soon. One down side will be that Henry, Rupert and I will miss our two weekly visits from James.
Gauchers News Contents
Source: Gauchers News June 2006.
© Copyright Gauchers Association 2006