Thursday, September 27, 2018
Baby Harmoni's Diagnosis of CEP Congenital Erythropoietic Porphyria.
Last year in October 2017, Me and my fiance found out we were pregnant with our first child & we could not have been more excited. After waiting so long at 38 weeks our sweet little girl Harmoni Grace was here weighing 8 pounds 1 oz and twenty one and a half inches long.
A short few hours after Harmoni was born she had what the nurses thought was what they call a brick dust diaper, which is normal in babies just not nearly as dark as Harmonis was or the quantity.
We soon learned she was also born jaundice, so she was sent to the NICU to spend two days to help with the jaundice and to get to the bottom of the brick dust diaper. After two very long days and some testing doctors could not find anything wrong with Harmonis urine so we were cleared to head home.
As excited as we were to bring our baby girl home we just knew something wasn't right. For two whole months after that me and my fiance spent almost every day in Valley Children's Hospital trying to get to the bottom of all of her problems and symptoms.
Almost every time we took her in for vomiting, the red diaper, her being lethargic, and not eating they sent us home and told us we have a colic baby and we should hold her more and we would have to let her cry it out sometimes, that answer was never good enough for me. As a mother I knew something just wasn't right. Finally, after many trips to the emergency department we get admitted due to her hemoglobin being extremely low.
I can remember that day was a nightmare being questioned left and right and having a whole team of doctors come in to tell you your two-month-old has a hemoglobin that should be at her max limit which is a 13.6 but she is at the lowest a person should get a 7.0.
Doctors began to tell us that she will need a blood transfusion and we will be in the hospital until we can find the source of the bleed. This admission we spent almost two weeks in the hospital with the best doctors on our team to find some possible answers to what is going on with our baby girl.
On the fifth day the team of doctors came in, sat us down, & let us know they might have an answer to all of this madness going on with our sweet girl. They informed us they think Harmoni has Porphyria, and in that moment, I think we reacted in any way any parents would with hearing a big medical term without knowing any knowledge of what it is or what comes with it.
After a little more information from several different doctors we were able to take a deep breath and brace ourselves for whatever was to come next. The next few days consisted of meeting with a hematologist and genetics doctor and TONS of testing.
The results would take some time to come back.
We were finally discharged when harmonies hemoglobin was at a safe level. We were advised her levels would have to be checked every two weeks to make sure her hemoglobin stays at a safe level and to make sure she won’t need another transfusion.
On September 6th she went in to test her levels and sure enough they were low again, so we were once again admitted for a transfusion and a Broviac Line placed. After two days Harmoni was safe enough to come home once again with the same routine of checking her blood levels every two weeks. On September 11th we got her results and it was confirmed she has Congenital Erythropoietic Porphyria.
Now, we are waiting for calls back to get into UCSF to meet with specialists to take the next step to helping her.
Even though she was diagnosed with porphyria will do everything in our power as her parents to make sure she in no way shape or form feels any different than others. And at only three months old our little girl is the strongest little girl I have ever met, we refuse to let this kick her butt, so we will always make sure she is Porphyria strong.
Thank you for sharing through a parent’s eye how special and wonderful your baby Harmoni is to you. Harmoni you are very special to us and how wonderful it is to have such loving and caring parents fighting for you.
To learn more about Congenital Erythropoietic Porphyria (CEP) please call our office at 1-866-APF-3635 or view our website www.porphyriafoundation.org
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