‘She’ll never walk or talk. Her future is unknown.’: Mother details journey with daughter’s rare chromosomal disorders

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“We were at our weekly growth scan at 34 weeks when the doctor told us, ‘Your baby has stopped growing and the blood flow is not getting to her as expected. We need to get her out ASAP.’ She then went onto say how our baby will be very poorly and will need to go onto intensive care. We agreed to try natural birth before a c-section, as this was my preferred option. We went to the ward and induction began, slow and painful.

The next day, I gave birth to a beautiful baby girl, Dottie, while surrounded by doctors and midwives. I held my baby for seconds before they rushed her straight to neonatal, a ward where premature babies go for intensive care.

New mom holding newborn daughter in hospital
Courtesy of Jemma Hassall

Our time on neonatal was long and heart-wrenching. Seeing our tiny 3-pound, 5-ounce baby hooked to wires and oxygen and having scans and tests felt so helpless. We couldn’t even touch her, she was too delicate. As the days went on, things started to get worse. It’s so true when they say ‘one step forward, five steps back.’ An extra blood test was taken, as a doctor thought she had ‘abnormal facial features.’ They wanted to test for a genetic condition, which would take 4 months before receiving the results. A few weeks went by and we went home.

Newborn baby girl with wires in hospital
Courtesy of Jemma Hassall

As the months went on, our girl started to thrive. She was putting weight on nicely and we loved our little bubble, until we received a letter through the post regarding Dottie’s genetic testing. A letter that stated our daughter had two rare chromosome disorders, 18p deletion and 14p duplication. Our world flipped right around. From this moment on, she had hospital appointments weekly and referrals to all different kinds of specialists and different hospitals with more experience were being made. The scans and tests were relentless, more medical diagnoses started to flood in. So much has happened in such a short space of time, I never had time to process any off it.

Newborn baby wearing white sleeping in crib
Courtesy of Jemma Hassall

We were told she would never walk or talk and her future is unknown. The thing I hate hearing the most is, ‘You just need to wait and see how it affects her.’ She is so rare, the doctors don’t know the answers to our questions. I remember our worst day, the day she stopped breathing. Dottie struggles with feeding—she chokes a lot and we have to intervene to help her. So, ringing for an ambulance while watching our baby turn blue and and limp isn’t anything new to us. But this one day in particular haunts me. We were at the hospital, already having checks, luckily enough! I had given her some calpol as she had a temperature, which she didn’t swallow properly, and when she started to go blue, I realized she wasn’t breathing. My partner (Dottie’s father) shouted for help, I couldn’t bare it.

Toddler girl sitting on carpet
Courtesy of Jemma Hassall

I ran off with my legs like jelly as the doctors took over and gave my girl the help she needed, it is thanks to those doctors she is alive today. As it stands, Dottie will be 3 in July and has two rare genetic disorders, septo-optic dysplasia (three medical conditions under one name, optic nerve hypoplasia, pituitary abnormalities, and dysgenesis of the corpus callosum) She has a cyst on her pituitary gland that is monitored closely. She’s delayed in all areas and sitting at a 9-month-old baby on average and is being monitored for drop seizures. She can not roll, crawl, walk, or talk, but despite what the doctors say, she is so determined and we know she will prove them wrong! The weekly appointments will be for the foreseeable future, she has blood tests every two months, MRI scans every 6 months, and in-between she has regular eye tests, hearing tests, blood tests, EEG tests, and all kinds of other tests.

Brother holding baby sister sitting on floor
Courtesy of Jemma Hassall

We have to do daily therapies, such as physio twice a day, vision therapy twice a day, and massages to help relax her muscles. It’s tough, but this us our life now. She is our absolute hero—despite her difficulties she wakes up every single day with a smile. She is my inspiration in life. One thing I can’t get my head around is society. How society is still so ignorant to disabled children/adults. We have faced many hurtful things, people’s comments and mutters. I try to raise awareness through our Instagram page, but we’ve been subjected to a few trolls. The things they say are disgusting. We were taking my son to school one day and I overheard a woman say to another, ‘Wow, look at that baby head-butting her pushchair,’ and they both laughed. If adults are still laughing at disabled people, then we have no hope. Discrimination should not still be happening! We need to fight for inclusion and change. I do not want my girl growing up in a world where she isn’t accepted.”

Family of four standing in living room smiling
Courtesy of Jemma Hassall

This story was submitted to Love What Matters by Jemma Hassall. You can follow their journey on Instagram. Submit your own story here, and be sure to subscribe to our free email newsletter for our best stories, and YouTube for our best videos.

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