Wow, I can’t believe it has been a year since we got Daphne’s Diagnosis
Where it has felt like 10 years with the most stressful, life changing experience, other parts have seemed to fly by and not lend enough time to get things done.
I think I am ok now with saying I consider us lucky in finding out so quickly, it only took 5 months. I/we as parents probably were a delay in that and it could have been even faster. I read so often families go years looking for answers and are left not knowing.
So how did we know?
Daphne was born a healthy baby with normal APGAR scores (9 and 8 I believe) but was just sleepy and did not want to eat right away.
I jokingly said she got that from Rich because he loves to nap and sleep and always seems sleepy.
One delivery nurse was especially concerned with this and kept making a big deal out of it, trying to force her to eat, doing blood tests, bringing a supplement bottle for us to try thinking breastfeeding was not going to work and I was so annoyed but also a little curious why she was so concerned. We stripped her down, put cold wash cloths to her feet to try and wake her, did skin to skin, everything you can think of, so much that her body temp started to drop and then we had to add heated blankets. After about 7 hours approximately Daphne started eating just fine. The concern was over and we moved on. We did stay in the hospital a second night just to make sure everything was ok and it was.
We noticed right away that she preferred to look one direction over the other and her pediatrician said just turn her head and rotate the direction she faces in her crib to get her to use both sides. We did this and it seemed to work.
Daphne always felt a little floppy and soft but was progressing and gaining so there was not a concern. I remember at about 3 months old her head control was not where I believed it should be and so I decided to change my hold on her and face her out with her back against me so she had to engage her neck muscles. This seemed to help.
She rolled over on time, was scooting backwards and a chunky happy little baby.
She even started sleeping through the night at 9 weeks and I thought I was in heaven.
Around 4 months she seemed to want to eat a lot and seemed interested in our food so I tried cereal but she was not interested and she was not anywhere close to sitting up. I took a break then tried again at 5 months. Again she was not close to sitting up and did not want the food. I discussed everything with her Pediatrician and got the “every kid does it differently”…yeah yeah but they still hit it within a range and I did not see signs that even that would happen.
Right before her 6 month check-up we were at a Christmas Party with friends and like most moms, my friend and I were talking about Daphne hating tummy time which is normal I know but the level she hated it at was different and her tilted/weak head control and she said you know it looks like Torticollis, they showed me the special hold to help correct it which Daphne hated and gave me the name of a physical therapy place to get an evaluation. I had never heard of Torticollis, read up on it and it sounded a little like Daphne’s newborn symptoms but she did not present 100% that way at 6 months but I was desperate for an answer.
I talked to her pediatrician about it and she said I don’t think she has Torticollis let’s give her another month and if she is still not sitting up let’s send you to Neurology and PT. I kind of freaked, took it into my own hands, scheduled two PT evals before we left for Christmas Break and was told maybe she had silent reflux (maybe the reason for hating tummy time) and maybe torticollis but low tone for sure. So that seemed like an easy fix, she started an acid reflux med and we made an appointment with a GI Doc. Daphne hated the med and after a couple of days there was no difference like we were told we would see so we stopped.
We also saw an Orthopedic and got an X-ray of her hips to makes sure they were okay and not preventing her from anything.
We went to the GI Doc, she did not think she had any serious issue with reflux as all babies had it to a certain degree and Daphne was not throwing up, she just did not like tummy time. The Doc was smart, old school and in touch, we also were talking to her about weight gain and she said add oatmeal cereal to her bottles as the rice industry was crap, feed her olive oil and avocado to beef her up and referred us to Neurology and a feeding evaluation.
At this point she is 7 months old and this is Jan 2016 that all of this is happening. We went to this Neurologist who I recognize as brilliant now but back then I hated her. She was talking to Rich about SMA, which if you don’t know anything about it, read for 1 minute, all those babies DIE before 1 year old so I did not want to hear anything she had to say. She also spoke of a Metabolic/Mitochondrial Dysfunction and referred us to CHOC Metabolics, ordered a bunch of blood work, MRI, skin biopsy and I freaked out. I said no to the MRI and skin biopsy, we decided to go least invasive to invasive as needed.
Jan 30th Daphne had a ton of bloodwork done, so much that the Phlebotomy staff made us come back to finish it because we would have exceeded the amount she was allowed to have taken if we did it all in the same day. That was hard to swallow and the start of learning the ins and outs of blood draws the good, bad and the ugly.
Our doctor at CHOC was very knowledgeable and our genetic counselor was the best of the best and so sweet and knowledgeable of the disease and able to dumb down anything the docs said. It was a flood of information, lots of bloodwork, family trees being mapped, at this stage it seems like such a blur and I would really have to pull out the binder to map out the entire process. It felt like all we were doing was going to doctor appointments.
They ordered a chromosomal micro array blood test on Daphne and it revealed a duplication of chromosome 3. Rich and I were tested and I was the carrier of that, it is a trait for adolescent seizures but I did not have them so hopefully Daphne will not either.
Then they ordered genetic blood testing of 319 genes. It would take 6 weeks to get the results. It was approximately $14,000 and we ended up paying around $800, the testing companies have this thing where they own the results so they subsidize the cost, gee thanks!
She also went to a Cardiologist with the diagnosis of a suspected Mitochondrial Disease to check her heart. It was “clear” but they wanted to check her again in 6 months. We went back and learned that she had a PFO and that is common in babies and it closed but they did not tell us that.
Around this time and I am really skimming over all the appointments, I took the girls to Hawaii with my parents. Daphne was so fussy the entire trip, would scream in the car, was not content most of the time, even if being held so it was a struggle of s trip. I tried to recreate a picture I have of Adelaide in Hawaii at 3 months with Daphne in the same dress and pose at 10 months but she couldn’t do it. When we got back we had a followup with the neurologist and Metabolic group and they said benign infantile hypotonia, the best diagnosis possible.
BUT then days after getting back she had a regression. She had an EEG at some point and I cannot remember if it was pre or post regression. It was probably pre and was ok. Some abnormalities were found but I did not think it was much of anything and she was not having seizures so it was relatively okay. However after the regression our Neurologist panicked put in expedited orders for an MRI even though the Metabolics department was it willing and that happened within a day or so versus the over a month wait CHOC was offering.
The MRI results showed Leukodystrophy and we were devasted. That is a degenerative white matter Disease. That was a tough day but little did we know that 16 days later we were going to find out the worst news and our lives as we knew it would never be the same.
I remember freaking out about her Birthday Party planned and a dear friend asking if I wanted to cancel it and I said no, it may be the only one she ever has. A thought I never thought I would have.
All the specialists reviewed the MRI, we went into overdrive sending her results to all kinds of specialists, asking them to review her information to shed light on any possibility. Nobody responded.
We made an appointment with the San Diego doc urgently and got in 1 day after her 1st Birthday and he told us the suspected Mito Disease, Leukoencephalopathy with Thalmus and Brainstem involvement with High Lactate (LTBL), which we later learned was the diagnosed disease. He told us all the grim facts and words that I can barely say to this day without crying, “there is no cure, no treatment and it is fatal”. He said there is nothing we can do, clinical trials do not start until age 2, it was a NEW disease with only 12-15 diagnosed in the world and at that time it was about 3 years old, it is expected that this disease is one of the main causes of SIDS babies and just goes un-diagnosed. He said he sits on the National board for approving clinical trials so he knew all available and there was not even anything for this disease. He discussed some case studies with us, suggested some vitamins and sent us on our way.
I cannot even begin to describe the hate that I had for that man! I described every flaw he had, was so angry over his dismissal of Daphne and just sending us home to watch her die. I said I never want to see him again.
After having time to absorb the diagnosis the only positive at that time we could find was knowing what to research. Rich and I both spent so much time researching, it was exhausting and overwhelming and all day we would email each other new links, read and read and prepare questions to ask the doctors at our next appointments.
It was months and months of research, talking to other Mito families, finding another mom with a son with the same disease.
We learned so much in such a short period and are close to experts at this point.
The road to diagnosis was by far the toughest event I have ever gone through. We went through so much and I didn’t think it was fair that most families would not have the knowledge and access to resources like we did and knew I wanted to find a way to make a big impact on the disease, so one day after hearing so many families complain about their struggles with doctors, insurance companies and costs of supplements, I knew that was my mission. Mito is unpredictable and uncontrollable so the ability to make persons with it feel the best that they can and be able to afford it was the basis for Daphne’s Lamp.
I am a day late in completing this post as I was celebrating my longest best friends wedding. It is amazing how life replaces one of the worst days of your life with the happiest day. Yesterday I spent the day catering to my dear friend and making sure everything went flawlessly. I was thankful to be busy, if I would have had even a moment I probably would have cried.