Victoria's Story


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In October 1994, Victoria was born, a beautiful 8lb 7oz baby. Eighteen months later after many tests to discover why her spleen was enlarged, she was diagnosed with Gauchers disease. Victoria is now nearly six years old and doing well. Her mother tells her story:


'I want to have a little sister' said my daughter Maria. All her friends had siblings to play with and she wanted one too. When we told her we were going to have a baby, she couldn't have been happier. We all waited anxiously for the baby's arrival.

Finally on 9 October 1994, Victoria was born. She was a beautiful baby and like her sister never any trouble. For 15 months we were very happy and her older sister could not wait until Victoria was older so they could play together.

Things changed during Christmas 1995. A strange rash developed all over Victoria's body and she was running a high fever. I remember the New Year's Eve party. While everybody was having fun, I was in another room holding Victoria in my arms. We were staying with relatives and had to rush back home early to take her to the doctor. We were told that she had Erthema Multiforme (a rash with no explanation why it happens).

Enlarged Spleen

In January 1996 at Victoria's 15 months medical appointment, the doctor noticed her spleen was enlarged. We were sent to the hospital for an Ultrasound and some tests. Victoria's blood levels were a little low so he decided to put her on iron and wait a couple of months. The doctor thought the enlarged spleen could have been caused by the rash she had at Christmas.

We returned for another apointment in April. By that time her belly was so big she looked nine months pregnant and her balance was so bad that she kept falling all the time.

The doctor decided to send us to a specialist in hematology. On 29 April we went to the hospital for some more tests. We were told that there was a possibility of Victoria having leukemia and they wanted to discard that. We went back the next day for a bone marrow biopsy and even more tests.

Victoria could not understand why they were doing all this to her and we felt helpless.

Diagnosis

On 3 May we were told she had Gauchers disease. We had never heard of it before but we tried to find out about it. We read a lot and for three days we prayed that she would be Type 1. On 6 May (my birthday) we returned to the specialist. That was so far the worst day of my life.

The doctor mentioned that there were three types of the disease and talked about some of the symptoms. She said that Type 3's had horizontal ocular apraxia (abnormal eye movement). She then looked at Victoria's eye movement and said that she was certain she was a Type 3. She also said that she would not live to see her twelfth birthday and before that she would deteriorate progressively.

At that very moment I thought my world had stopped and I felt like somebody was squeezing my heart and I couldn't breath.

We decided to contact NIH (National Institutes of Health outside, Washington DC, USA) and have her evaluated there but in the middle of the evaluation we had to come back home because she had got very sick with a virus. We went to the doctor and he said that as long as she was drinking it was okay. Two days later we had to rush to the hospital as she was completely dehydrated.

She was 21 months old and weighed 16 pounds. She barely had any life in her. I thought she was not going to survive. I don't think we had prayed so much in our entire life. I know it was my faith in God that helped us to survive it all. I cried for joy when finally one night a nurse had to sneak into the cafeteria for a piece of bread. Victoria was asking for food.

Enzyme Treatment

Victoria had her first enzyme treatment on 29 August 1996 (her father's birthday). Since then she has been getting better every day. Her spleen and her liver have reduced almost completely. Her blood levels are normal and she is growing at a normal pace.

Last year we started her treatments at home. She loves Sandy the nurse and always lets her put the infusion line into one of her veins with a smile on her face. She is not afraid and she has told me that although the needle hurts a little when it goes in, it doesn't matter. She even flushes the line herself after the needle is inserted and has learnt to regulate the flow. Her nurse tells me that she will soon learn how to do it herself because she is so interested in knowing how to do it.

Victoria is happy because she can finally play with her older sister. Her father calls her his sunshine and she feels very proud of that but the truth is that she always had a radiant smile on her face. If you didn't know it, you would never know that she has Gauchers disease.

I asked her a few days ago if she knew why we always ask God to heal her and she answered me: 'I don't know. ' She is a very happy girl.

We don't know what the future will bring us but we know that she has changed our lives forever and as long as she is with us we will enjoy every minute of it. Life has a new meaning for us; we don't take anything for granted any more. And I know in my heart that God is taking care of her.


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Source: Gaucher's News August 2000.
© Copyright Gauchers Association 2000