u/Blessedwith5_boys

Hello everyone I’m new to this community. My baby was born last October and after a month in the NICU at one of the Children’s Hospitals in California, he was diagnosed with a very rare metabolic genetic disorder idh2 type 2. This was a new genetic mutation confirmed to not have been passed down by dad or myself through genome sequencing. He suffered from seizures and it was discovered that his heart was severely dilated. They said the right side was normal but the left was so big and that it barely even rocked. His ejection fraction at one point was less than 10%. He was started on this medication by the metabolic team that they have used on the 2 other kids that have the same rare condition that the hospital is treating and it has shown some improvement in their cardiomyopathy so they decided to give my baby that med. The medication basically normalizes the toxic acid from the bad gene and reduces seizure frequency, improves social function and heart function. My son was sent to CHLA back in November and he was denied a heart transplant because of his developmental delay, seizures and underlying mitochondria disorder. The hospital told me to tell my family and other 4 kids that we need to celebrate Thanksgiving and Christmas early because he wasn’t going to make it. He was never coming home is what the words were to me. To nurses and doctors surprise he was stable enough to be discharged almost 6 months later home on hospice because his heart is still weak and I don’t know what to do. He has outpatient appointments with the specialists from the hospital and everyone is like surprised that he was able to have his NG tube removed and now drink from a bottle again, something they said he would never do again and he is not having anymore clinical seizures but his heart is just not improving. They tell me to just increase his cardiac meds or switch them and come back in 4 weeks. Today’s visit the cardiologist just told me again that his heart function is scary and it’s barely squeezing and it’s more about how he looks and he looks good to her. She said she is just so surprised at how much he has compensated. She said his heart is severely depressed and I guess what I’m asking is would there be another hospital that would take him as a candidate, I have 4 other minor kids and I just want to know if there are other doctors that will help him with a transplant or another option that can help his heart instead of just giving meds and seeing how things go. He is now 9 months old and he is really fighting but I don’t feel like doctors are helping much. He was discharged from Children’s Hospital of Orange County.

I’m feeling really defeated and unnerved after my baby’s cardiologist appointment this morning. I’d like to give everyone some background first because so many things have happened leading up to this it seems. When my baby was almost ready to get discharged from the NICU after 164 days I was trained on administering all of his meds through his Ng tube he had placed in his nose at the time. Seizure meds, heart meds and a very specialized medicine which is being used off label for his mitochondrial disease were all sent home with us. I learned the schedules for the dosing and ensured that he got what he needed when it was time. They asked me about my preferred pharmacy and I let them know I have a CVS within 5 minutes walking distance from my house which obviously is so convenient for his refills. His mitochondrial medication which is very very expensive but thankfully covered and paid for in full by his insurance was almost out and I called it in right away to my local pharmacy. Days later I was told that that medication will only be available at the Children’s Hospital pharmacy and the reason is because it’s so hard to get and it’s very expensive so I could pick up some of his meds at CVS but that one in particular I have to go almost 45 minutes to get it. That was the first time he was without it for a couple of days because they had to get another refill approved from the prescribing doctor and then wait for the medication to arrive. Right before his next refill was due my vehicle got repossessed because I couldn’t make my payments as I couldn’t go back to work after his shift nursing stopped which left me with a huge loss of income. I still managed to get him to all of his outpatient appointments at the hospital some of which are back to back in the week and he has established care with a great pediatrician up to date on all vaccines. I informed his metabolic specialist at the hospital that I’m now without reliable transportation temporarily is there any way the medication can be delivered to me or even ready for pickup on a day when he has an appointment because I have 4 other children the youngest are 2 and 3 and I don’t have family in the area and they referred me to a social worker there. The pharmacy said no they don’t deliver. The social worker called me and said her team is worried that he has been without his medication(even though his metabolic doctors told me that it’s not a concern if he is without it for a couple of days just get it asap). I had a worker from another agency offer to drive down and pick up the medication as a courtesy. Fast forward to his appt today she arrives and I’m a little surprised to see her but she asks how things are going and I tell her things are ok Justin is more energetic and alert and I’m just glad he is doing well. She goes on to say again that her team is worried and if this happens again they will probably get CPS involved. I let her know I have attempted to rectify the issue in multiple ways but I can’t force the pharmacy to deliver it or send it to a closer one. I said he never misses his appointments, he is growing appropriately, his seizures have been well controlled, all of his other meds I pick up on time. I’m not abusing my child I just need a more convenient way to obtain one of his meds. If I didn’t have 4 other children yes I could hop on a couple of buses to get the medication but why are THEY making things more complicated. She says I don’t think you are abusing your kid and you are a good mom but maybe they can help you explore some options. Again CPS should be used for neglect and abuse and millions of people have their prescriptions delivered right to their door it’s not fair to punish me when I’m heavily involved in my baby’s care and the only reason they won’t send it to another pharmacy is because it’s very pricey. I tried to keep my composure I did cry a little because when you know how hard you worked to get your baby home and then maintain his needs on the outside and it feels like in her eyes it’s not enough. I wasn’t overly emotional I did hold a lot of what I was feeling inside because I’ve read about stories where even being too emotional can be used against you. I did not expect to be a single mother I wish I could just call dad or a nearby family member but that’s not my case. If it was an emergency then yes I would call 911 immediately to get him to a hospital no questions asked. I’m just so lost. I make sure I’m up for his feeds in the middle of the night and I rarely get sleep but I don’t complain I never expected motherhood to be easy and I just feel like this one thing I fell short on and her solution is CPS. Unbelievable. Also his doctors aren’t concerned, during each visit they are happy with the improvements that he is making and whenever they ask me about his medication routine or about changes to his dosing another doctor could have made I’m quick to give them the information they are always happy that I have the routine figured out.

Hi everyone, I wanted to first say that Justin is still doing really well at home and I’m grateful for the fact that I’m not driving back and forth to the hospital like before and I feel for all of the parents that are still in that situation just wishing they could bring their babies home. I just decided to vent a little and also share some things we’ve been dealing with maybe others could have a heads up just in case they find themselves in a similar situation or even share some advice for me. As a single parent now I’m really feeling the need to lean on this community now more than ever I just need I guess some encouragement and some love. Justin was discharged from the NICU with home nursing that provided care for 8 hours a day Monday through Friday. My employer of over 8 years decided that I should be able to come to the office to work since he has a nurse for those hours despite them knowing the emotional roller coaster I was on since his birth and how bad things were. I was very grateful to still have my job but when you almost lose your baby you start to prioritize family and being more present. I really wanted to bond with my baby more and still assist in his care even when the nurse was present but I ended up going back to the office to keep my job and to start earning a paycheck again. Eventually Justin had a swallow study and passed it and was given the ok to have his NG tube removed yaayyy. I wasn’t prepared for his nursing to stop immediately. I was informed that because he doesn’t have anything like a feeding tube, trach etc he no longer qualified. I was even told by someone to keep the tube to keep the services but why would I subject my baby to painful stuff that is not necessary just so it would make my life a little more convenient I don’t think so. He wanted his bottle so I gave him his bottle. So now I am not able to go to work at all but what’s really upsetting is that he still has not started any of his early intervention services. He was assessed and approved for services with Harbor Regional probably 2 months ago and I was informed by his caseworker during that time that services should start about a week after approval. Whenever I check in with her she says she is waiting to hear back from 2 potential therapists to see if they are going to graduate their kids or not so they can take Justin on to their schedule and she really wants Justin to have these specific therapists. He was approved for OT/PT each once per week and I’m so anxious to get him started. Sure I stretch him and talk to him often and try to do a little tummy time but I’m not trained and if he qualifies they should start him asap. On another note, he has shown some feistiness lol and I love it. I will put him down in his crib or his baby seat and he will start fussing and will literally stop as soon as I lay him on my chest it’s just so cute. He also doesn’t have any teeth yet at 8 months but I’ve been told that it could be completely normal and it also can be due to his condition but I ultimately just want him to have access to everything that can help him be his best self. Realistically I cannot do this alone as much as I wish I could. Thanks so much everyone for reading my rant 😊

My baby spent the first 5 and a half months of his life in the NICU due to a very rare metabolic disorder that caused brain, heart damage and developmental delays. I was instructed prior to his discharge by a social worker in the NICU to apply for SSI and IHSS and I thought to myself ok that will help since I haven’t been able to return to work because he has so many needs and I wouldn’t even trust another daycare to manage them even if they willingly accepted him. I applied about a week after discharge, got one of his specialist and ignorantly thought I would be getting back pay from the application date for all of the care that he requires. The caseworker assigned to my case called me earlier today to schedule an assessment for tomorrow and actually told me right away that it’s highly unlikely that I will qualify to get ihss for him because of his age and even if I do some medical care it would be considered paramedical and I would need to wait for a denial and then have that form filled out by a doctor and I just am surprised. I understand that this is my baby and nobody should pay me to take care of him however with his complex medical conditions, no daycare would probably be even qualified to watch him and I can’t return to work because I’m caring for him. Why would the hospital even suggest I apply for IHSS if the likelihood of me getting anything would be like zero? I am feeling discouraged because I’ve heard stories of some people actually getting a lot of hours for their babies and others that don’t. I’d also like to add that his condition wasn’t not expected even by the doctors, I had planned to return to work soon after I delivered him like I did with my other kids but things didn’t go as planned and I used my savings and my paid family leave to go back and forth to the hospital for almost 6 months so I really thought that I would be finally getting some help with backpay. I am sorry if I overshared I’m just really bummed and not too optimistic.