Comfort for Nell

Hello, my name is Katie.

I am a mother of 5 beautiful children.

Penelope Pearl, our 8 year old (and only girl) was diagnosed with a rare, de novo genetic condition in 2018.

There was only one other patient in the world, at the time, with the same diagnosis.

Penelly is profoundly physically and intellectually disabled.

She is non verbal, unable to walk, talk, sit or swallow.

Penelope has optic nerve hypoplasia, dystonia and scoliosis that appears to be worsening by the day.

We are currently waiting on an MRI for Penelope, under general anaesthetic, to progress her scoliosis treatment. Penelope’s name has been on this list since May 2024 with no sign of a date in the near future.

Penelope is tube fed & has a suprapubic catheter, both of which I change, myself, at home.

Penelope is on roughly 13 medications several times a day, and patches for pain management.

Nell requires two pumps, one for food one for water.

P is entirely dependent on her family for all her hygiene and toileting needs. I am awaiting training for bowel washouts to try help with her discomfort. It is a great privilege to care for my daughter and I do so with unwavering love.

From the day Penelope was born, my concerns were ignored and I have tirelessly fought for my daughter to receive the care she deserves.

She couldn’t breast or bottle feed adequately and no one, bar my wonderful GP would listen to my concerns.

At 3 weeks, I took Penelope privately to a professor in dublin for help.

We were referred to another prof privately in Cork.

Upon our second meeting, Penelope immediately underwent extensive testing.

After my concerns about her vision were ignored and minimised by a consultant in Cork, I privately took P to the late professor Michael O Keefe, who identified and diagnosed Penelope’s optic nerve hypoplasia, Penelope was referred P to the wonderful professor Mary King in Temple street childrens hospital.

One day after Nellys second birthday, on Christmas eve, we received her diagnosis and were told it was life limiting.

We were told to make her comfortable and to enjoy our life with her.

Over my daughters lifetime I have advocated for Penelope and her peers.

We have spent thousands trying to ensure her comfort and best quality of life.

Money has been raised for P before, to recoup money we spent on items privately, a fundraiser was set up by a group of fabulous irish brands, Fauna, Goose and shopkidhood.

Once our expenses were covered we donated the excess to charity.

Money was also raised for an activity chair and sensory devices.

We also organised a fundraiser for Jack and Jill children’s foundation in Nells name to thank them and give back a little for all their help.

We acknowledge our privileged position and thank people for their endless kindness, generosity and support.

We have met roadblock after roadblock in the health system and Penelope's quality of life over the last year has declined dramatically.

I am an unpaid family carer, I lift penelope up and down the stairs and try my absolute best for her, but she is in agony.

We have to give her morphine half an hour before we lift her down the stairs for school in the mornings.

Her back causes her such agony, My heart and spirit feel shattered. Penelope is so beautiful, I cant bare to see her in pain.

Nell is the queen of our house and our hearts.

The one thing we were told to do was to keep her comfortable and we are failing.

P was so unwell last year she only attended school for half the academic year. I cared for her at home throughout. Shes failing in-front of our eyes.

and, after many, many messages asking us to fundraise for Penelope, we have decided as a family to do so, for our precious Penelope Pearl.

We have no goal and any money raised will go towards making Penelope comfortable- weather its a downstairs bedroom or accessing help for her scoliosis abroad- any help is greatly appreciated.

We hope to be in a position to once again give back someday.

I will continue to advocate loudly for a better Ireland for our children.

No child should be forced to wait in pain.

With love and appreciation,

The Healy Nolan family