How We Accessed Services for Our Daughter Who Was Born with a Chromosomal Abnormality

How we accessed services for our daughter who was born with a chromosomal abnormality.

After she was born, our daughter was discharged as a “healthy baby” with a heart murmur.This is not uncommon and often resolves itself in the first few weeks of life so we were told our daughter would need a check up with a neonatologist at 6 weeks old.

At 6 weeks old, we saw the paediatrician and although our daughter appeared to be growing well she was still a little floppy and not quite as ‘awake’ as her older sister had been at that age. Therefore wehad a follow up appointment 6 weeks afterwards to keep an eye on things.

Over the next few weeks we had the routine checks from the health visitor and GP practice. Our daughter’s growth rate was declining. Leading up to the 12 week follow up appointment, she had stopped gaining weight.The health visitor and GPwere waiting to see what the paediatrician thought.

The paediatrician was excellent at recognising that something wasn’t right. She suspected that our daughter had some sort of syndrome because of her heart murmur, growth rate and a few subtle facial features.

The paediatrician referred us to a geneticist and a number of services to help us as we started our journey into the world of having a child with additional needs. Within a few days we were under the care of a dietician, speech and language specialist (for help with feeding/swallowing), physiotherapist and community nursing team(to support us with home tube feeding).

After a long 8 week wait the confirmation of a rare chromosomal abnormality was confirmed.

We saw the therapists and paediatrician on a regular basis and we were also referred on to the appropriate medical specialists at larger London hospitals for Cardiology and Ear, Nose and Throat (ENT).

Next steps…

Once we were in the routine of the regular hospital appointments and life tube feeding at home (with an older sibling in tow), it was up to us to seek more support and non-NHS services.

I searched for local sure start children’s centers and found a support group for children with additional needs. After we began attending this group on a regular basis, we found out about different services and support through word of mouth, includingfinancial support (such as Disability Living Allowance and grants), and Early Years Support. Most of the support was accessible by self-referring as a parent.

We also self-referred for Portage play therapy which was a fantastic service. We would not have heard about it, if it wasn’t mentioned by another family member.

We are now two years down the line. Although we have to go to less appointments, we still come under the umbrella of many services. We have learnt to advocate for our daughter by asking professionals what services are available and pushing for referrals if we think they would benefit our daughter. We have appliedfor funds that we have found by networking with other parents and on forums such as Family Voice Surrey.

What I would have liked to have known at the beginning of the journey…

We were luckythat our daughter was given a medical diagnosis with associated medical conditions so we had automatic access to many services from the referrals made by our paediatrician. However, early on, we weren’t signposted to any support services or non-NHS services. We had to do a lot of our own research so we wish we had known about the Local Offer earlier so we had a one-stop-shop to inform us of what was available in our area for our daughter and the rest of our family.