Supporting people with Cri du Chat Syndrome and their families

Pepi's Story

by Lucy Santos on 04 January 2017

Pepi

Pepi’s mother writes: 

Pepi was a long awaited child. In 2009, as soon as I fell pregnant, I put him on a waiting list for a nursery that was considered the best in the country. I remembered vividly all terrible places of my childhood and fell in love with Oakfield. I wanted my child there. I enjoyed pregnancy. I felt serene and did not mind my demanding job. I am a doctor and I was a specialist registrar in diabetes and endocrinolgy at Trafford General at the time. At 20 week scan, the first blow came. The radiographer went out to call her supervisor. They told us that Pepi had a single kidney and a small head. The consultant was called and we were referred to Central Manchester Children Hospital Neonathology for further management. A colleague who saw us there did a detailed ultrasound and was generally reassuring. I wanted her to be. I knew that 10% of general population have a single kidney and it does not mean much. Head circumference I did worry about, but she told me that the brain was perfectly formed and I was happy with it. She did not recommend amniocenthesis. I did think about it. Consulted colleagues who were all advising for it, but I was attached to my boy. I had waited such a long time for him. My husband, who is not a medic, was in a state of panic. He wanted me to reassure him, to tell him that our baby was going to be all right. And I did what he wanted me to.

My waters broke on the day I was supposed to present in a conference. A friend who was supposed to give me a lift came and I smilingly apologised and said I had more important things to attend to. I had no pain or contractions and ended up being induced. We had the most wonderful midwife who attended to all 3 of us: my Non-English-speaking mother, my husband who played Bach on the CD in the labour suit, and me. Pepi came to this world almost effortlessly. I looked at him and saw he was not ok despite APGAR score of 9. He had single palmar folds, epicantus, wide nasal bridge and deformed feet. The midwife said: “What a cry! Like a little cat!” That was enough for me. I realised I had the baby who had what I only had read about in text books. I cried a lot. Mum and Sasha were confused. They seeked my reassurance, but I could not give it to them. I could see a long stretch of years in front of us – disability, emotions, pains of all sorts. It made me think of all my swims in the uranium-polluted River Sava after NATO bombing of Belgrade in 1999.  

Bloods were taken and the result came back 5 days later. Pepi had Cri du Chat Syndrome. By that time I had read all about it. I wanted to prepare for the life journey in front of us the best I could. I thought, if this baby had to be born to somebody, it better be me. I can give him enemas at home, I will feed him with a syringe, I will massage his feet so he does not get contractures, I will persuade the Oakfield to take him… Lack of sleep was painful. And cries. Cries could last forever regardless of what I did.  The smell of vomit in my hair and clothes was eternal. I was at home alone with Pepi, there was not much to enjoy but surviving. Making it through the day. And night. I tried to breast feed to the point I had opened wounds on my breasts. I did it to the music – Ladies and Gentleman by George Michael. I imagined Pepi playing trumpet and me sitting in the front row. I loved swimming and I took him to Aqua Babies. They told us we were a hazard. We attended few playgroups in which we had nothing in common with others. I went to Oakfield for a meeting announcing Pepi’s diagnosis. Roisin Moriarty and Oakfield Nursery gave us comfort beyond any. In preparation for the meeting they went onto Cri du Chat Support Group web site and printed out relevant sections. They said that all children had special needs. They said as long as he was not at risk to himself and others, they would have him. At the time, just like now, he was like a little cub. I avoided other people holding him. However, during my meeting with Roisin, Auntie Kit Kat took him. They had a cuddle. Pepi had a poo. She changed him without asking. I loved her. At that point in time I think I loved those two ladies more than my own mother.   

Pepi

As Pepi grew older, they suggested they applied for an inclusion grant and went on to interview a lovely girl who was Pepi’s one to one. She was great with him, but the attendance record was not great. It was never a problem for Oakfield or us. There were some days before holiday when I took Pepi to the nursery and said that I would pick him up after lunch so that he could sleep in the car. They would feed him and change him and he was ready to dose off on a journey to Dorset.  We had a wonderful Paediatrician, Helen Lewis, who gave nods to my ideas like sleeping on the font. Pepi had reflux and the highest risk to his life was aspiration. The risk of aspiration is much higher if baby sleeps on the back. A supportive and keen SALT was trying to persuade me to have Pepi PEG fed. I did not want to. He was swallowing. Yes, there were days when he was not eating at all. Luckily, Pepi was a generally healthy child who only had antibiotics 2 times in his life. We were dealing with most of stuff at home, with Dr Lewis on another end of the phone. Pepi had Ponseti attempted for his complex feet deformity, but ended up not sleeping or eating for 10 days soli, so we took the plaster off. He was still on 50th centile of the growth charts for Cri du Chat and Dr Lewis and I decided against PEG feed. He was, and still is, hypersensitive to touch and he would have only injured himself having it in his tummy.

Pepi

We have been through a lot since. Pepi is now 6 years old. He attends 10 different health services. He bottom shuffles and crawls rather fast. He does not speak, but can show signs for food and toilet. He takes thickened fluids and eats pureed food. He likes gourmet stuff, garlic in particular, aubergines, fish. He is still incontinent, but we are starting potty training this month. He adores music. Swiss Cottage School that he attends is marvellous. They take him swimming, cycling in the park, he has one to one music therapy. I take him to IcanDance on Saturday. He has a “girlfriend” who he does yoga with every morning at the school. She thinks he is called Happy. Being called happy is the biggest achievement of my life.