“My pregnancy was like every other “normal” pregnancy, filled with excitement and anticipation for the new addition to our family.
I give birth at home and get handed my little girl (she is not crying). I look at her and hand her straight back to the midwife “there is something wrong” I say. They rub her and she begins to cry. “She is fine” they tell me, handing her back. I look into her eyes and just cannot connect like I had with my first child. I feel terribly guilty. What is wrong with me? Me and my husband both cuddle her in turns and settle on the name Isabelle. Family come to see her, cooing and complementing us on our beautiful girl.
Something is just not right. I try to breastfeed her. She has trouble latching on – on, off, on, off. We switch to bottles. Maybe this will help? But she takes an ounce and stops, cries, we try again. Maybe wind? Forever winding her, feeding her, trying to settle her. She won’t take her bottle unless we are in a quiet place as she is easily upset by noises. Several visits to the doctors and they diagnosed her with colic. They tell me she is just an unsettled child and there is nothing wrong.
As she grows, milestones are not met. Her eyes will not follow us, she won’t engage and has no interest in toys or books or even us! At 6 months we are weaning and she can not tolerate foods; unless they are super smooth we have no chance. More visits to doctors and midwife clinics and we get the same response “she is just a fussy eater”, “have you tried this…”
Just shy of 1 year old and we are still trying to get her to swallow food with lumps with very slow progression. She will not sleep properly and is often up in the night. Sometimes Isabelle is crying, other times just wants to play! I cannot hack this. She needs me 24/7. I have another child I can’t look after. She takes everything from me. I often get upset at night and cry until I fall asleep. I can’t make sense of it. The doctors say she is fine, that she must be a difficult child and she will grow out of it.
Her 1st birthday! A happy occasion, for most. We however spend the whole night awake. Isabelle just won’t stop crying. Nothing will help. I’m going crazy. I take her to her 1 year check-ups and explain again that she is not meeting her milestones. I must look a state. I am exhausted and at my wits end.
I am back at the doctors that afternoon, my mum with me to back me up as I am barely functioning myself anymore. “She is constipated. This prescription should help. I will also refer her to the Paediatrician.” At last! Someone is listening to me. I’m also being put on anti-depressants. This should help me cope better.
2 months on I get signed off sick from work, get counselling and have my anti-depressants upped. Shortly after I quit my job. My daughter needs me. This will be financially tough for us. I am losing a my salary, so I can be with Isabelle, and help get me back on track. If I don’t sort myself out, how can I look after my kids? It will be so tough. My husband starts to work 6 days a week and longer hours to help with money.
The paediatricians won’t listen to me, nothing is wrong. Again. 6 months on and I finally see a different paediatrician. “Interesting, she is not meeting her milestones. Not sleeping well, and her facial characteristics…. Sticky out ears, large forehead, very long and skinny…” Wow, I’m glad I am getting somewhere, but really she needs to stop picking on all Isabelle’s flaws!
We go back again, and again for further check-ups. Tests, examinations, referrals to physiotherapy as she cannot yet crawl. Speech therapy as she is not yet communicating, MRI scan and finally – genetics tests.
It is just before her 2nd birthday. We get a phone call from our paediatrician. “Could you come to see me.” Well this can’t be good. What have they found. Me and my husband drive up to the hospital to discuss the results “I am so sorry. As you probably have guessed, your daughter’s genetics have come back with a condition. 1P36 deletion syndrome.” She reads it from the leaflet she has on her desk. “I have never come across this before, I have researched it and have this leaflet for you. She will need life long care.” We sit in shock. I dare not look at my husband but I can tell he is trying not to cry. I take his hand and we listen as the list continues. The paediatrician reads points out from the leaflet “developmental delay…hypertonia…feeding difficulties…seizures…disease of the heart/minor heart defects…hearing and vision loss, large soft spot, spine problems, thyroid problems, issues with kidneys, infections, digestive disorders…” I think I have gone numb. I cannot listen anymore. I’m nodding at the words but not really taking it in. Life long care! Life long. Forever. There is no cure, and it could get worse. We leave the hospital. I drive as my husband’s eyes are still red from crying. We start driving home. “Are you ok?” Am I ok? No not really. It is not fair. Why me? I start to cry, hard. My husband calls my parents on the way home to tell them, then we stop at his parents and he goes in to tell them. I stay in the car crying. I don’t want to tell people. I want to protect her. Protect us from the stream of questions even I can’t answer. I get home and get straight onto the computer. I look up a Facebook group and within hours I am added to their closed group – The 1P36 Families. I am welcomed with open arms, floods of wonderful people saying Hi.
We meet up with them in the August. A welcome group of wonderful, beautiful families. Varying in needs, but all so inspirational. For the first time in over 2 years I feel like I belong. These people get it. We are all open and honest with each other. A lifeline.
Today and Isabelle is doing well. She is now walking and although not talking, is learning Makaton. She does have seizures now and is on different medications for various issues related to her genetic condition. We also have to be careful of sensory overload but she is much happier. We understand her. She loves bubbles, and a good old selfie! I still have my moments of sadness, as me and my husband come to terms that the daughter we had dreamed of is now “different”, our lives changed. However we love her unconditionally. We are a strong little family. Times can still be hard with finances, but thanks to The Sandcastle Trust we have now got a Family Annual Merlin Pass. It has helped provide some short term escapes for us, and a way to enjoy life as a family again without the financial burden. Some beautiful pictures of our adventures out that we will treasure forever. I now regularly fundraise and have become more involved with The Sandcastle Trust. I have recently become a trustee. Our family is kept very busy with doctor and therapy appointments for Isabelle along with all those other day to day chores we must get done. Life is much better. We are happy.”
