Help Ada

Hi, we are Jodi Palmer and Danny jones, parents of Ada jones. We have decided to make this to try and raise some money to help us fund private genetic testing for our daughter Ada.

Ada was born on 30/03/2025 and we were discharged 2 days later with what we were told is a perfectly healthy baby.

We noticed when she was 5 days old that her left arm is shorter than the right. We made this known to our midwife and she done a full check and found that Ada’s left arm and leg is shorter and has little to no muscle, her left nipple is significantly smaller than the right and her fingers on the left hand at half the size and have no grip compared to the right and 2 of her fingers are webbed. The midwife also found that she has a sacral dimple on her back.

We were called up to the hospital the next day to be checked over where a paediatric doctor took note of everything and found that she had something called a palmar crease on her left hand. They took bloods to check her kidney function and spoke to us about having something called Whole Genome Sequencing for a rare genetic disease. After this they ordered for her to have an MRI scan for her brain and ultrasound for her kidneys and her spine.

When Ada was just 10 days old she had Covid and then when she was 11 days old she had an MRI scan. This day they also took Ada’s and both of our bloods ready to be sent to Southampton to start the genetic testing.

We shortly received the results of the MRI which concluded that the brain is thankfully all good.

When Ada was 4 weeks old we had her ultrasound which we found out that her left kidney is 4mm smaller than the right and a different shape.

Shortly after this when Ada was exactly a month old we went to an appointment due to us pushing that Ada cannot cry she just squeaks, holds her breath and goes blue. At this appointment Ada’s consultant decided that she needed a chest x-ray and an echocardiogram. This concluded that Ada possibly had some fluid on her lungs and that our poor baby had 2 holes in her heart called a VSD (ventricular septum defect) and a PDA (patent duct arteriosus.) These holes should have closed whilst I was pregnant but they didn’t. This finding made sense as to why I had to stop breastfeeding as she was getting too tired and breathless and why she hadn’t gained significant weight as her hearts working too hard she’s losing all the calories she’s having, she was born at 5lbs 12oz and now only weighs 6lbs 12oz at 7 weeks old and has to have prescribed extra calorie milk.

They also found on the x-ray that her left collar bone and ribs may be smaller than the right. We were told we would see a cardiologist from Southampton in a few weeks and have another echocardiogram and discuss further options.

When Ada was 5 weeks old we went to the hospital due to her oxygen dropping significantly at home as we have an owlet sock to reassure us. During this time we were told that Ada’s heart is beginning to fail at only 5 weeks old. She then started diuretic medication to help her.

On the 15th May we met the paediatric cardiologist from Southampton to repeat the echocardiogram and discuss our options. The echo revealed that the holes were still there and the VSD measured 6mm. They told us she would need surgery in the next month to close these holes to prevent Ada’s condition worsening. On the 20th May I received a phone call to tell me they have a date for her open heart surgery, the 27th May when Ada is only 8 weeks old. This surgery would mean they will put her on a bypass and stop her heart, close the holes then start her heart again.

The genetic testing may take up to 1 year to come back with results which is killing us to wait and not know what any of these issues could mean for our baby. This is why we are asking for help to try and get private genetic testing which takes about 6-8 weeks to come back and could help Ada get the answers she needs and appropriate help. It’s so hard not to know what caused any of this as we are so young ourselves and never expected any of this to happen. We are worrying about what any of it means for Ada’s future and trying to understand how none of this was picked up on scans and why is wasn’t noticed in the hospital after she was born. However we cannot thank Dorset County Hospital and Southampton Hospital enough for the care Ada’s has received recently.

If you can’t donate, please share to help us and to raise awareness. Thank you.