First days of feeding tube.
The decision was made by both our DR and us for Harrison to be transferred out to The Sydney Children's Hospital for further investigations. As Harrison was still only new we were not allowed to take him out there ourselves, he had to be transferred by ambulance. It was so sad watching him being strapped to an adults' big bed when he was only so little. I was so scared of what was ahead. I think I cried almost the whole way. This was a long day I remember it was a Thursday: we had been mucked around all day waiting for the ambulance to take Harri out. They didn't want to feed him before travelling so by the time we eventually got out there about 6pm he was screaming starving - this coming from a baby who never wanted to be fed! It was so frustrating knowing for once he was hungry but we could not feed him till he was settled and tested some more. This Hospital was so different from where we were at our local hosp. This to me was huge and impersonal. Daunting. We were put in a large room with many other families. There were little cribs lined up with a chair either side of them. Restricted visiting was also required here. I didn't like it at all. It came to be about 10pm and my boy was hysterical and starving and still not allowed to be fed, I was tired and became extremely emotional Jason took me home. An hour's drive home without my baby was so hard. Again I cried all the way. I just felt so helpless. We both did.
Friday was a day I will never forget. Harrison was tested all day; blood, hearing, ultrasounds. Doctors in and Doctors out. This proved to be a very long day for us. On the Friday evening Jason and I were taken into a small room off of the ward, with the head Doctor of Nephrology SCH and Genetics, this is where we were told that Harrison had been diagnosed with Branchio-oto-renal Syndrome. We were told that Harrison had small kidneys and that his body would more than likey outgrow them as he gets older and need a transplant. We were told that if one of us carried the gene that we may not be able to have any other children without passing the syndrome on. Therefore we would also have to decide whether or not to have more children or not? We were unfortunately at the time told of the worst case scenario. That night was so surreal to me. We were talking but it was going in one ear and out the next for me. I felt like the walls were closing in on me. To make things worse a lot of what was being said to me was medical jargon and I really did not understand, all I was thinking was I hoped that my husband was listening so that I could ask him all about it when we left. The trip home that night was a dazed and confused one. We went straight to my mum and dad's place' to inform them and gain some love and much needed support. I will always remember that night and not for the better.
Feeding tube and one of the first of many drips administered.
The days to follow were extremely exhausting. Long days in the hospital with what felt like constant bad news. I started to hate getting out of bed every morning and heading back in there. But we had to - for our boy. The following days consisted of weighing his nappies to see how much urine he was losing and how diluted it was - checking the functioning of his kidneys. His bloods were checked daily to see his creatine levels. Tests like these became routine for us. Feeding was still a major drama; he would not take a bottle and was on a drip constantly. He had to be tube fed which was also exhausting. As the many tests came and went we started to learn more about this Syndrome and what symptoms Harrison carried. We found out with several hearing tests that at this stage his hearing was of normal function. I am lead to believe that the loss of hearing is a major symptom of this Syndrome. 90% of carriers possess hearing problems whether they be complete loss or progressively losing their hearing. So for Harrison to have normal hearing at this point definitely made me a little happier. He was tested for kidney reflux and we found no abnormalities in regards to reflux which was another positive. An ultra sound of his kidneys showed that they were a lot smaller than they should be, the size is said to be of concern later in life as his body will grow with puberty and more than likely outgrow the functioning of his kidneys. This is when we will have to look into transplantation. I know there are medical advancements every day but this scares me and I do not look forward to that time in our lives.
After 4 weeks out at the Children's Hospital Randwick, Harrison finally decided to start taking his bottles enough that we could move him back to our local private hospital for a few days before taking him home with us. His bloods were still being tested on a daily basis and his creatine was starting to regulate rather than it being so spontaneous. It was nice to be back close to home, although I was a little scared as I never had really had a very good chance to bond with my special little man. Unfortunately the move was not as special as hoped. When we arrived at our local hospital they were very cautious and put Harri into Quarantine. I understand why they did it now as we came from another hospital and he may have been carrying germs but we just assumed when we got to the hospital that he would be in with us and we could start looking forward to eventually getting our little guy home. We were not told this was going to happen, and at the time it really felt as though we had taken a backward step. They also made me feel very unwelcome when I was actually supposed to be excited about almost getting home. It was like a big inconvenience to them. He was in the Special Care Nursery again in the humidi crib for 24 to 48 hours before they finally agreed to let us have him in with us. If I remember we stayed in there for 3 nights before we were finally allowed to bring him home. Harrison was hospitalized for 5 weeks all up.
In the Nursery at Kareena. Only a few days old.
Once home we had 3 monthly Dr checks at both the SCH and with our local Peadtrician. We also met with the Nutritionist at SCH to make sure Harri was getting all the foods he needed. We have not yet had to make any major changes to his diet. We did have to try several formulas as he had a very sensitive stomach and was a projectile vomiter. Finally we were happy with him to be on Neocate. Dr checks then moved to 6 monthly. His feeding was always a major nightmare. He just didn't like milk and each and every feed was a fight. And the vomiting was just incredible. I began to hate feeding times, it was just such a struggle, we were told to take him into a room so he would not be distracted but it didn't help. Most feeds were a nightmare, even the night feeds.
At 5 months old we went and spoke to a Dr about having his ear pits closed, neck fistulas taken out and his tongue tie snipped as this did not end up being fixed before leaving hospital. The Dr assured us this would be day surgery and he would be fine. At 6 months we went back to SCH for the surgery and Harri was again hospitalized for 2 weeks. After having his tongue tie snipped he decided that he would not take a bottle again! It just never seemed to end. He was put back on drips and tests started again. To be honest I don't really know what happened. I think that when he first went to drink that maybe his tongue was sore and he just decided he would not drink because of that. It didn't take much for him not to drink at the best of times. His ear pits and neck fistulas were closed and removed with no problems. There were a few little stitches and they have healed nicely with no dramas. Being back in the hospital was really hard for me this time round. Too many bad memories. I am so happy to have such a fantastic, beautiful, supportive husband, if it was not for him I would have just about lost it at that time. He stayed most nights in there with Harri even though he had to sleep on an old hessian stretcher that was in the shared visitor's room. As he had been home with us for 4 months we of course bonded with him and found it very hard to leave him in there overnight without one of us being there with him. It was just a waiting game, we thought once his tongue had stopped hurting that he would start drinking again but it just was not happening, we tried to feed him on and off several times a day, they tried to starve him and see if that worked, it didn't. We had speech therapists coming to try and help, but he just was not interested he his was just happy not to eat. . Eventually we had to make his milk up in the form of custard and spoon feed him. As the hospital needed the beds we were finally sent home. So for the next 4 to 5 months our boy was spoon fed milk and solids. This was a NIGHTMARE. It was so time consuming and just so debilitating. We became quite house bound. I can't remember when or how but one day he just decided he would drink again. When we went back for our check up with the Dr he then told us that he had never actually snipped a tongue tie on a child at the age of 6 months, only within days of them being born or much later on in life! Now I know why!
Another drip.
Harrison is now 2 years and 8 months old. He gets his bloods tested every 6 months and we visit the SCH for our regular 12 month check up. He has to take medicine, Bicarb, twice daily for his kidneys. To me, unless I told you that Harrison had this rare Syndrome, you would never know that there were any medical problems with him. He is due for another hearing test at the age of 3 but at present I know that his hearing is fine - he hears things that I don't even hear sometimes! I only worry that it can be progressive, I just hope its not. Other than his left over scars from the removal of his neck fistulas and ear pits there are no other visible signs of this Syndrome.
Harrison now has a younger brother who was born without the Syndrome. He is 15 months old and has no known symptoms. I have noticed that he has 2 little ear pits inside his ears which look like tiny dimples. They are not open holes like Harrison's were and they are in a completely different spot. I have also been told that I have the same dimples in my ears. They have been examined and are said to just be part of our ears. We both do not have any hearing problems. We have been told that they are not suggestive of the syndrome as we both have no other known symptoms. Although I am a little sceptical due to the variation of this syndrome.
After lots of researching on this Syndrome I stumbled across a website; Boys Town National Research Hospital - BOR Syndrome Research Project. I decided to make contact and seek further information from them. I have found the Professor there to be a wonderful caring man who is always willing to help and educate me on this Syndrome. They sent out the paperwork. The research project is designed to identify genes that cause BOR Syndrome and then determine how they cause the Syndrome. We volunteered and donated blood samples from myself, my husband and Harrison. We sent them off early this year 2006 and last week successfully received a result. There was only a 40% chance that a result would even appear but for once luck went our way! We were told that my husband or I DO NOT carry the gene mutation and that Harrison therefore was a de novo case (Spontaneous). As there have been a few cases in my side of the family with kidney problems I always carried the guilt that it had come from me but now I don't have to harbor that anymore. They found a pathologic change in Harrison's EYA1 gene. They found what they call a stop mutation in Harrison's exon 16 of the EYA1 gene. The mutation would knock out the gene and cause a 50% reduction in the level of the EYA1 protein. This we know is sufficient to cause BOR. If you would like further information on this Genetic Research I have provided a link on this site for you to go to.
The day we bought our baby home! 1 month after he was born.