Branchio-Oto-Renal Syndrome - The Cain Foundation

I fell pregnant with Christopher, 2.5 years after my first son Alexander. Having had a very easy first pregnancy, and what seemed like a very easy second pregnancy, I was pretty confident all was well. When I went for my 16 week check up, they took a blood sample to test for Down syndrome (a fairly normal procedure in South Africa). I was not even going to phone to get the results. In fact I was not even going to have the blood test.

Anyway the next thing the doctor called to say that the results indicated that there was a possibility of Down Syndrome. He did however state that the blood test was not very accurate, and that one does get false negatives and false positives. The only way to check was to have an amnio, which is what I then did. The results indicated all was fine. Big sigh of relief! The reason I am mentioning the blood test, is that although the test is for Down Syndrome only, maybe the tests were indicating that there was a problem with the chromosomes?

I had fertility treatment for Christopher, so when I was 16 weeks pregnant I had to move from the Fertility expert to another Gynaecologist. I chose another Doctor, and went for all my Check ups. At about 36 weeks the doctor indicated that Christopher was "quite small". I found this a bit strange, since I come from a family of tall children. My instinct told me something was not well. I decided to go for a second opinion, with a specialist Radiologist.

After scanning the brain and indicating all was well, he moved the scan to the front of the face. I immediately noticed something strange and asked the doctor what the lump was under his nose. My husband and I were told it was "the harelip", as though we knew. The Radiologist also noted that there were small cysts on the one kidney.

Not having much time to absorb the details of having a child with a cleft lip (and possibly a cleft palette), Christopher was born 10 days later. Despite seeing photos on various Websites, it still came as a huge shock to us, when Christopher was born. He had a very sever Cleft Lip and Palette. He was sent straight to Neo natal, where he remained for 8 weeks. He had three major operations to fix the cleft lip and palette, which were all successful although very traumatic for him and the family at the time. (In fact I do not even remember all the details of the operations, as I think we humans were made not to remember bad times).

Three paediatricians later (all who tried to assure me all was fine with Christopher other than the Cleft), I eventually came across a wonderful Nephrologist. After checking him for 10 minutes, he sat me down, and advised me that there was a good chance Christopher had a syndrome. The doctor had identified 6 things that were "wrong" with Christopher. These included cleft lip and palette, protruding belly button, delayed mile stones, low slung ears, problem kidneys, testicular that had not dropped. The Nephrologist advised us, that the medical fraternity start looking for a syndrome, which is the norm if there are more than 2 things "wrong" with a baby.

We then had to take photos of his face and hands, and give a medical history. The information was then sent to a Professor at one of the Teaching hospitals. The wait was then on. 5 days later Christopher was diagnosed with BOR syndrome at 15 months of age. Believe it or not, it was a huge relief for us, because for once we knew what we were dealing with. It made it a lot easier for us to manage Christopher's health and to know what we needed to concentrate on.

Christopher is now a very happy 5 year old boy. He goes for annual check ups with the Nephrologist. (Christopher only has one functioning kidney). If he gets sick, we check his blood pressure, and ensure he does not have an infection that could affect his kidneys. His hearing is a bit of a problem. He got hearing aids last October, as the audiologist identified a mild hearing loss at the lower frequencies. (apparently high frequency hearing loss is more common). The hearing aids will hopefully help with his speech, as he still struggles to talk. There are basically three things affecting his speech and language development: physical impairment because of the Cleft, hearing loss and Dyspraxia (motor planning problem).

We are very fortunate that we have a very good, private school close to our home, that specialises in Children with Speech and hearing problems. He has speech therapy 3 times a week, Occupational therapy twice a week and Physio once a week. I sometimes wonder whether all the therapy is necessary considering that he is a very active child who can kick and hit a ball like any 5 year old, and he screams around on his scooter like a professional.

Christopher has added a new dimension to our lives, that we would not wish to trade in for anything else in the world.

Well done again Fiona, on having the energy to pursue the website, it has been a great source of information. Catch up soon with you

From the Morris's in SA.