Tag: care

NeuroMet Clinic

All has been relatively calm in the house, except…..

Daphne is TEETHING!

Adelaide has a high fever (hopefully just a cold but she had the stomach bug over 4th of July weekend)

AND

Daphne has been partying with Rich late night a couple times this week.

In all seriousness Daphne has been teething for months.

I asked another Mito mom if she thought it took longer than normal for her daughter’s teeth to come in and she said yes.  Her daughter is 21 months and she only gets about a week break in between teeth.  She is currently working on her molars.  I do not know how Daphne is ever going to get molars.  Right now at least 3 of her top teeth are coming in, probably all four but I can see the points of 3 of them.  Her gums have been red and swollen since before her 1st Birthday.  I feel for the little girl but for the most part she has been happy, she just has her days.

Yesterday she was fussy all day at the sitters and did not sleep, last night she was up from 1:30-4.  Today she slept at the sitters and I hope she sleeps tonight.  The teeth look like they have made some progress.

It’s a real bitch when your body sucks at making energy and you require energy to push your teeth through.  Mito SUCKS!

Doctors….

We haven’t seen them in awhile.

It’s annoying and causes anxiety and lots of questions.

I also think its been kind of nice.  We have gotten to settle down from all the running.

We go to the doctor next week.  Our 1st appointment at the Neuro Metabolic Clinic.

Here starts the “Care”

So I will remind everyone I am NOT on Team Metabolic Group.

They really annoy me and I try my best to be polite and respectful but I am starting to near the end.

I like or did like our Genetic Counselor but she is also annoying me.

Like I said we have a lot of questions and have sent various emails so I compiled all of them and sent one collected email with all remaining open items, and then Rich found another research article and passed it along with some questions and the doctor replied perhaps they can wait for an appointment because it is becoming difficult to keep track of all the emails and effectively treat the patient.

Perhaps I am bias and selfish but I just compiled everything for you and items were addressed except the latest article Rich just sent them.

My guess is they are embarrassed that Rich is finding research, (stay tuned for a post on this), that they know nothing about.  They do not acknowledge the articles he has sent because they do not know.  It is beyond frustrating.

It’s like politics in a company and I deal with that during the day, I cannot and will not have that with my daughter and her health.

I did take a little work approach with the Docs and created a RAIL (rolling action item list) to have every single little comment, issue and question we have addressed and it will remain open until I decide it gets closed.

Some may think I am OCD but I just like things a certain way and to be completed and not overlooked.  I do not see OCD.

So the latest email asked about which Neuro we will use the 1st, 2nd or 3rd one we have seen or a new one in their group.

We did not like Neuro 1, Neuro 2 was great and the biggest advocate for Daphne and one of the best physicians we have seen to date but he does not know anything about Mito, Neuro 3 is Dr. H and I do not like him much but he is like a Mito Genius per the Mito Community but I do not want to rely solely on him so I agreed to the Neuro in the Clinic for now.  After all we have to meet them first before I can hate them 😉

During this appointment Daphne will get more bloodwork and a skin biopsy….eek!

I have put the biopsy off for awhile now.  I mean who wants to hold down their baby and get a hole punched out of them.  Yes she will be numb, but still I cannot even stand for her to get her blood drawn.

We will also talk to a variety of specialists and maybe just maybe the Medical Director of the Group to understand all the supplements we have asked about and they just gave the dose and said start them 1 week apart without any conversation.  The total number of supplements would be 8, really docs, really?!  We have trouble getting two into her.  The 3rd has been a nightmare and pretty much non-existent.  We may be breaking them down and I do not feel bad about it at all.

This is our baby.

Our sweet little 13 month old that has a stupid horrible disease.

That has a group of doctors that do not seem to care.

That seem to just act like they are maintaining her comfort and not trying to cure her.

That have the most minimal hours of any doctors office I have ever visited.

I do not know what they do when they are not in appointments, which is only like 2 days a week half days.  They better be researching and exhausting all means to help their patients.  If I find out any different they will certainly wish they had never met me.  I am working very hard at making connections in the Mito Community, setting up a family social in the area and getting a grand rounds for families and doctors.

God give me Patience and Strength!

So stay tuned….

Desiree

 

Transition

On Monday we had our first appointment with the Metabolic Doc since we received the Diagnosis.

As Rich said you could see us transition from diagnosing to CARE.  This was a little hard for me to accept.

I mean we have been caring for her everyday and just because they put a name to her condition, doesn’t change how we CARE for her.  The docs may be smarter than us in knowing what to expect but I will not settle for that.  I will not just wait for the symptoms to appear.  I plan to help Daphne defy the odds and have the best possible life she can.

Ok…I’ll try to hold my anger back a little.

I actually was not too angry during the appointment.  It was the first time I actually liked this Doc.  He seemed to have more compassion and cared about Daphne.

They watched her laugh and giggle the entire appointment and she even drank a bottle in front of them.  She likes a quiet place for eating, including meals, she is easily distracted.

They said she seemed more interactive and happier than before.  Which we agreed.

We discussed the next steps.

It appears we will now be seen by the Neurometabolic Clinic which is a group of specialists all needed to care for Daphne.

Neurologist, Dietitian, Nutritionist, Social Worker and Metabolic Docs to name a few.

We asked about current supplements she is on as well as other supplements we have read about or heard other mito kids are on.

Our metabolic doc is not too knowledgeable on supplements, so I hope the Dietitian or Nutritionist will be.

We asked about emergency preparedness plans, general treatment plans because mito kids are different and cannot take some antibiotics and if there is an incident of anything we will know exactly what bloodwork to run and what IV fluids to use (the norm does not work for mito kids, it can actually make them worse), next MRI, bloodwork, testing for Rich and I and the skin biopsy.

The Doc said we can wait approx 1 year for another MRI (unless she has a change) so Daphne can have time to produce more Myelin (the white matter in her brain).  Apparently some newborns do not have much Myelin which is why they have Parkinson like symptoms and kids produce most of their Myelin by age 8 but can continue producing it until age 20.

We will take a skin biospy sample from Daphne in the new clinic once we get an appointment which will help them better understand how her body is functioning.  SO they say and they better be right for me to agree to punch a hole in her.

Rich and I will get tested for the genes that Daphne has to one see how our family will be impacted and to help them understand more about Daphne.  After Rich and I are tested then our parents will get tested.

Daphne not only has the two mutated EARS2 genes which is rare but 4 other genes that are rare but luckily she does not have the pair to make them a problem.  This information is pretty unreal!

There is a National Symposium in Seattle starting today that Rich and I were talking about attending but decided not to this year.  He wanted the science portion and I wanted the family stuff and we did not want to travel with Daphne and have a lot going on here so we are sitting it out this year.  Our San Diego Doc and our Genetic Counselor are both going so I hope they bring back information for us.  I know it will not be the same as if we are attending but it will have to do for now.

There are two great websites full of more information than you could possibly want:

http://www.umdf.org and http://www.mitoaction.org

UMDF has a mito_first Handbook that explains Mitochondrial Disease

MitoAction has a good Mito 101 Handbook as well but I cannot find it again.

Desiree