joshua

Joshua came home on the 13th March 1998 to his new home. His sister adored him and so did we. People came and visited the new addition to our family and his grandparents doted him. His time at home was short lived though. The following day Joshua went back into hospital with very high temps. They could not tell us why he had high temps though. For 24 hours, I sat by his side very emotional and unsure as to what was happening. The hospital performed tests on him but the tests all came back clear.

The first few months of Joshua's life, he was normal in everyway. We were settling in to our new life with our new baby boy. Then when Joshua was about 3 months old he started to develop a rash. It started in spots. Then what seemed over night, it had spread to his whole little body. We had taken him to our family doctor and was told that the little fellow had bad eczema. He started to get worse. He was itching all the time and his skin was very, very dry. We would just have to touch his skin and it would split and start bleeding. It was breaking my heart seeing my son in so much pain. We went to a specialist with Joshua and the specialist beleive that Joshua did not have eczema but something else, maybe psoriasis but he was still unsure as to what it was. He performed one of many skin biopsy that were to came. After the biopsy, they still were unsure as to what Joshua had. The only thing they were sure off is that he did not have eczema or psoriasis.

We attended a conference in Brisbane , Queensland, Australia and we seen over 30 Specialists in one day. By this stage Joshua's hair, eyebrows, eyelashes and every other hair on his body had fallen out. His skin was so dry and sore. He was bleeding badly in his cracks and new cracks were appearing all the time. The screaming was getting everybody down. The doctors decided after discussing Joshua, that he suffered from P.R.P. (Pityriasis Rubra Pilaris).

By now, Joshua had been in and out of hospital to many times to count. From infections, to loosing weight, not gaining weight, being to irritable and sore to touch, puss sores breaking out over his body, the list goes on. I was slowly loosing my mind. This was meant to happen to other people, not me or my child. You only think things like this happen to other. Well, I guess this time I am the other person! Doctors were telling us different things, "Try this or try that", but it seemed like none of them really cared. One doctor told us that he beleived that Joshua was going to die if something was not done soon. So here I was thinking the worse, thinking my son was going to die becasue no one cared enough to help. Thank God that Doctor was wrong!

We finally got a referal to go to Sydney,NSW, Australia. I thought that this would be a answer to our prayers. Sydney is one of the best Childrens Hospital in Australia. My prayers seemed to go unanswered. We left Sydney with no more answers then we arrived with. In fact, I felt even more frustrated in angry at everybody in the medical field. How can the Government spent thousands and thousands of dollars on people with drug problems and people with alcohol problems , when there problems are self inflicted, when people like Joshua who are born with their medical problems or get medical problems later on life through nobody's fault, there is no help for them. Who is going to help and cure the people like Joshua in this world? Maybe if I were a drug addict, then my son might get same help!

We arrived back from Sydney an we did not know what to do. Everywhere we went for help for our son, nobody could help us. Finally we were referred to The Royal Children's Hospital in Brisbane, Queensland, Australia.

After a couple of visits they finally diagnosed Joshua. He had Nethertons Syndrome. Well I had not even heard of it.

Joshua was diagnosed on the basis of the following:

*Reddening of his skin, eczema , failure to grow in infancy and abnormal appearance of the hair shaft.

* This is a very rare diagnosis and is due to the absence of a protein coded for by the Netherton gene. This protein is most important in ensuring that cells are shed from the top layer of the epidermis of the skin with-in 3- 5 days. If they are retained, as they are on Joshua, then icthyiosos or thickening of the skin occurs. In addition the protein must be effective in stopping the skin becaming inflamed. It is important in the formation of their hair, and may be also important in the development of the immune system because Joshua, (as do children with this condition), have quite a number of viral infections.

* The conditon is autosomal recessive. That is, through nobody fault, my husband and myself are carriers for the Nethertons miscopied gene. When this happens, a baby is born with Netherton Syndrome. Therefore, the risk for each pregancy is 1 in 4, or alternatively there is a 3-4 risk of a normal outcome.

This is Joshua in hospital at the end of 1998. He has very little hair as you can see and noticed how dry his skin is. He has cracks under his nose, that would bled if they were bumped or touched. He was very sore here. Everything Joshua has been through is just remarkable. This little boy is my HERO!

I love you Joshua!