- Noonan Syndrome
- Interviews
Lily's interview
How did all start?
Lily had feeding issues at birth as she could not latch. They decided to take her to NICU as her blood sugars dropped and she was under 5lbs. While there they checked her blood and saw she had low platelets. At 4 weeks she had a platelet transfusion. At 6 weeks she had a bone marrow biopsy. They saw she had the mutated gene PTPN11. They took a haute sample to see if it was present in her germline which it was. This confirmed Noonan Syndrome type JMML.
Do you already have a diagnosis? How long did it take you to get it?
Lily was diagnosed at 4 months old
For what medical specialties have you been treated? What has been the most useful specialty for your?
Lily has her heart checked regularly as she has a hole in her heart (ASD- Atrial septal defect) which is self correcting. She has her blood checked regularly as she has Myleoproliferative disorder, which is also self correcting She also gets physiotherapy, hydrotherapy, occupational therapy and speech and language therapy.
They have all helped immensely.
2023 update: Lily was slow to walk and used a kay walker until she walked independently at 3 years old. Lily is now peg tube fed but she can eat as normal. However, she had a number of food allergies which she has since successfully completed the food ladders so she can eat them now, but this along with her Sensory issues and her high palate has led to a lot of food aversion and picky eating.
What has been the most useful thing for you so far?
Lily was given a brace a few months ago to help with her strength while crawling. Within only a short few weeks she was crawling properly and had much better core strength.
What have been your biggest difficulties?
Eating is a struggle. Lily had reflux as a baby and she has a number of allergies which took a while to diagnosis so it's no wonder she has oral aversion. She also has a very high palate and only has 4 teeth so far at 20 months so it's a challenge eating.
How has your social and family environment reacted? Have your social or family relationships changed?
Lily is the strongest person in the entire family. If any of us are struggling we look to Lily and she gives us strength. With everything she goes through and she always manages to have a smile
Finally, what advice would you give to a person in a similar situation?
Smiling makes everything better. You can have the inner strength more than you ever realised
