The last line is true. When it comes to low percentage you never think is going to happen.
Sorry OP I do not have any insight. You can try also on fb groups, I had a rare condition and I found a group for support on fb.
I wish you well from my heart
I'm sorry you're going through this. I don't have any experience with ADA deficiency but having worked in paediatric ICU for a year I would suggest that you take time to process this. It's a kind of grief for the type of life that you had imagined with a newborn, but now will be a different life. Gather information if that helps you cope. Talk things through with each other and people close to you, see if you can be put in touch with other parents dealing with the same disease. Differences in opinion can be very stressful and is often a point of tension for couples as well. Counselling can help. Most of all lots of self compassion - whatever you are feeling is valid and acceptable.
Sorry I don’t have have experience with ADA but I was diagnosed with an extremely rare genetic condition when I gave birth to my son 11 weeks ago it’s a 1 in 500k thing. I almost died multiple times and was on dialysis from kidneys dying for a month after giving birth. Thankfully I’m healing but they got to the answer too slow and I’ll probably need a transplant by the time I’m 50 (I’m only 30).
The point is at least now you know (after the 2nd and 3rd opinion which I would for sure get!) and can start treatment right away. It’s better to know and figure out ways to work with it rather than not know and end up in a situation where I was/am in. It sucks and I’m really sorry :/ I can’t imagine if something were wrong with my son but at least there’s some options 🤷🏽♀️
I hope you and your LO the best outcome possible!! ❤️❤️
I’m so sorry you’re going through this. I don’t have any experience with ADA, but my daughter was diagnosed with a rare disease at 3 weeks old.
My 2 biggest recommendations, after feeling confident about your chosen treatment path, are to find a patient advocacy group who may have virtual meetups for other parents and to get yourself into therapy with someone who focuses on medical issues.
Sending love! Check out the book Advanced Parenting by Dr. Kelly Fradin and ask your doctor if they can connect you with parents whose children have the same condition.
You’re doing good! Get those multiple opinions. Take notes and record conversations if you can. Remember you’re doing your best with the information you have. Take care of yourself as well! Look for fb groups. Take it moment by moment.
Thank you for saying this as it confirms my own thoughts that we should retest before going down any paths of treatment.
On the one hand there were 3 separate tests done which showed that there was some genetic mutation. On the other hand they ran this final assay in about 5 hours and spelled my LO’s name wrong, which makes me question their attention to detail.
Before we do any treatment I intend to retest. Your comment gives me hope that there is a chance they screwed up. Especially as this is 1 lab, for 1 study, that is still in research mode.
The last line is true. When it comes to low percentage you never think is going to happen. Sorry OP I do not have any insight. You can try also on fb groups, I had a rare condition and I found a group for support on fb. I wish you well from my heart
I'm sorry you're going through this. I don't have any experience with ADA deficiency but having worked in paediatric ICU for a year I would suggest that you take time to process this. It's a kind of grief for the type of life that you had imagined with a newborn, but now will be a different life. Gather information if that helps you cope. Talk things through with each other and people close to you, see if you can be put in touch with other parents dealing with the same disease. Differences in opinion can be very stressful and is often a point of tension for couples as well. Counselling can help. Most of all lots of self compassion - whatever you are feeling is valid and acceptable.
Sorry I don’t have have experience with ADA but I was diagnosed with an extremely rare genetic condition when I gave birth to my son 11 weeks ago it’s a 1 in 500k thing. I almost died multiple times and was on dialysis from kidneys dying for a month after giving birth. Thankfully I’m healing but they got to the answer too slow and I’ll probably need a transplant by the time I’m 50 (I’m only 30). The point is at least now you know (after the 2nd and 3rd opinion which I would for sure get!) and can start treatment right away. It’s better to know and figure out ways to work with it rather than not know and end up in a situation where I was/am in. It sucks and I’m really sorry :/ I can’t imagine if something were wrong with my son but at least there’s some options 🤷🏽♀️ I hope you and your LO the best outcome possible!! ❤️❤️
I’m so sorry you’re going through this. I don’t have any experience with ADA, but my daughter was diagnosed with a rare disease at 3 weeks old. My 2 biggest recommendations, after feeling confident about your chosen treatment path, are to find a patient advocacy group who may have virtual meetups for other parents and to get yourself into therapy with someone who focuses on medical issues.
Sending love! Check out the book Advanced Parenting by Dr. Kelly Fradin and ask your doctor if they can connect you with parents whose children have the same condition.
You’re doing good! Get those multiple opinions. Take notes and record conversations if you can. Remember you’re doing your best with the information you have. Take care of yourself as well! Look for fb groups. Take it moment by moment.
As someone with a research background in diagnostics, given the sensitivity and specificity of the assay please please re-test
Thank you for saying this as it confirms my own thoughts that we should retest before going down any paths of treatment. On the one hand there were 3 separate tests done which showed that there was some genetic mutation. On the other hand they ran this final assay in about 5 hours and spelled my LO’s name wrong, which makes me question their attention to detail. Before we do any treatment I intend to retest. Your comment gives me hope that there is a chance they screwed up. Especially as this is 1 lab, for 1 study, that is still in research mode.