I'm new here.

SockMonkeySam · March 2014

I have read some, and lurked for a few days, and now ready to say Hi.

My name is Amye, and I have 1 year old twins. My daughter Riley was just dignosised with Mitcondrial diease last week.. we are devestated but ready to fight for her.

I don't know how much more my family can take.. in 2010 we lost twins to still birth ar 23 weeks. In 2012 we lost our 3 month old son Zachary to a daycare accident, and now my little girl is sick. How much will God keep throwing at me to see how strong we are.

I feel like giving up. Everyone keeps saying your so strong.. no I'm not. I'm barely holding on, but know I have to put on the brave face and fight for my daughter. As we know right now her twin brother is not affected, but we are all getting tested at Boston Childrens on May 13.

So I'm here, I don't know my next steps. I feel so lost in all of this. I did create a blog for Riley, if you want to follow along her Journey.. and our Journey

https://littlemrsroo.blogspot.com/

thefuturemrskudla · March 2014

Hi and welcome,
I am glad you joined us, this is a very supportive forum. I am sorry for your losses. Life sucks sometimes. I know; I lost my whole family (at the time) within a 1 1/2 year period, and, when DS was born years later, DH and I were shocked at his "multiple congenital anomalies." You will be a good advocate for your DD, there will be joyful times, we are "here" for you.

Junebug060609 · March 2014

Hi Amye

I am glad to see you here (for the support), but I wish you had no need to intro.

I didn't know you all had that testing coming up. So many T&Ps that all three of you come out of that in the clear.

SockMonkeySam · March 2014

Thank you. I hope to get support and give support.

realisticdreams · March 2014

Mitochondrial disease has been thrown out as a possibility for dd1. I honestly don't know and/or understand that much about it. Welcome to the board. Sorry for your losses.

HopeAlive3 · March 2014

Oh friend, I'm so sorry... I can't imagine what a difficult time this must be for you. Do you have anyone supporting you as you go through this?

algalphys · March 2014

Welcome...I am sorry for all that has been thrown at you. HUGS

ToastieSimons · March 2014

Welcome! I understand where you are coming from for a different reason. I was diagnosed with cancer right before I got married. This led to me being diagnosed with a rare genetic bone disorder. My first son was born super stiff and then we got a rare genetic diagnosis at 15 months which was the day after I found ou I was pregnant with DS2. 8 weeks later I found out I was a carrier. When DS2 was 6 weeks old he was diagnosed with the same condition. I remember feeling like everything that was happening wasn't real and I would wake up one day. I remember feeling like how could I possibly handle anymore. I have not lost a child so I obviously could not understand the depth of that pain, but the ladies here have had all different experiences. We can all sympathize with you, offer advice or just a listening ear if you need it. I hope you are able to draw strength and support from this group. I am so sorry for your losses, I remember praying for you sweet Zachary.

Assembly_Reqd · March 2014

Welcome. My heart hurts for you and your family. We are here for you.

kcisthebombdotcom · March 2014

Welcome. So sorry for all that your family has gone through in such a short time.

mightmom13 · March 2014

Sorry you have already gone through so much and a sick Mito kid is very scary!

Myself (I have a mitochondrial disease, still in testing) and at 18 months presented with going from walking to crawling - I could no longer walk. I was vomiting violently and could not stay hydrated. My pediatrician at the time sent me and my parents to the Children's Hospital in the capital city here. They were told after my first CT scan that I had a brain tumor and had maybe 6 months, they tested again and I don't know how the mistake was made but no tumor. I stayed in for at least a week in those lovely crib cages for testing/re-hydration. I was in and out for a lot of my life until my parents got a handle on everything (it is easier now as that was the 80's and no one new much). I don't know much about my child-hood but what I remember as my folks won't say much.

I basically have GA2 with "mitochondial myopathy" and am being tested more as DD is presenting/presented much the same. First let me say - I have a fulfilling life, obviously carried my daughter, and though she may be mito as well and we have our challenges - our life is pretty good. There are many different ways Mito can manifest so if you want to let me know her symptoms or severity of what you are going through I would be happy to help. It is a bit scary at first when you do not know much but this is a great site to start learning: https://www.umdf.org/site/c.8qKOJ0MvF7LUG/b.7929671/k.BDF0/Home.htm

Feel free to PM me or ask questions on here even if you don't want to share your story yet or don't know what to share. I am an advocate for DD and myself and try to keep as many people as want to be informed on Mitochondrial disease informed!

SockMonkeySam · March 2014

Thank you @Mightmom13

Riley started being diffrent around 9 months. Her and Carter were born both over 7 lbs each. Around 9 months we were sleep traiing her as she will only sleep at 20 minuets a time, one day the crying just completely stopped.

We had gone to the local hospital here in NH for what we thought were sezuires and she was hooked up to a EEG overnight. I was told her rolling her eyes in the back of her head and stiffing up was "normal" at that point she weighted almost 18 lbs ( 9/10 months)

As she started lacking in sitting up unassisted or talking we sought the help of easter seals who come twice a week to work with her. She is just starting to really crawl, but still has the lack of upper body control.

She still doesn't cry, show pain, or up until last week smile.

She is also down to 15 lbs, we have been trying so hard to find a liquid she can keeep down, as I have been told by so many ER doctors.. Find something she likes. She tolerates Pedisure.. and lots of solid food. Any milk, water, juice, formula or Soy and Almond milk will send her into vomiting.

She sleeps 20 minuets at a time.. then if she does fall asleep around 2-3 AM she will (if allowed) sleep until noon or longer.

She shakes, and her eyes twitch. Her MRI showed 2 small white dots on the back of her brain stem.. we have a meeting in boston May 13th to do blood tests and family history and have her twin tested.

I was flat out told she is going to die. No cure.. nothign they could do. I don't accept this. I foght so hard for these kids I am not stopping now.

I have looked up some info, and when you tell people what hand you've been given the flood of links and posts hit you and opening up some of them just makes me want to cry. I am not ready to have my child with a feeding tube or sick dying in a bed. I am so overwhelmed.

thetwinkies&Vivi · March 2014

Hi and welcome here. I'm so sorry for all that your family has been through. I don't have experience with mitochondrial issues, but just wanted to offer my support and prayers. This board is extremely knowledgeable and very helpful.

ncsubride · March 2014

Hi

I have boy/girl twins they are 5 1/2 years old. My son has MITO - feel free to message me if you want.

mightmom13 · March 2014

SockMonkeySam said:

Thank you @Mightmom13
Riley started being diffrent around 9 months. Her and Carter were born both over 7 lbs each. Around 9 months we were sleep traiing her as she will only sleep at 20 minuets a time, one day the crying just completely stopped.
We had gone to the local hospital here in NH for what we thought were sezuires and she was hooked up to a EEG overnight. I was told her rolling her eyes in the back of her head and stiffing up was "normal" at that point she weighted almost 18 lbs ( 9/10 months)
The stiffening up and rolling eyes are not normal, I will say more below but from what it sounds like she has some neurological stuff going on - which is common in mitochondrial diseases. There can be both day and sleep neurological issues. I would suggest a sleep study to look for some stuff. My daughter had an EEG and the short one came back normal but they said to expect that. She has lots of starting spells that increase during the sunny months.
As she started lacking in sitting up unassisted or talking we sought the help of easter seals who come twice a week to work with her. She is just starting to really crawl, but still has the lack of upper body control.
Low tone is HUGE in mitochondrial kids (I say kids but I still have low tone myself and work on my core as much as I have time to do). DD hated tummy time because it was so hard. At 8 months maybe she could roll to her back, but could not for the life of her roll back over to her stomach. She also went through helmet therapy for plagiocephaly because she laid on the same side so much and had torticollis of the neck on the one side. Her left side is still a lot stronger than her right (as is mine) and she is already starting to compensate. She has orthodics now to help with her gait and stabilization - she was in physical therapy (PT) but got discharged however will be getting re-evaluated via the school system soon.
She still doesn't cry, show pain, or up until last week smile.
She is also down to 15 lbs, we have been trying so hard to find a liquid she can keeep down, as I have been told by so many ER doctors.. Find something she likes. She tolerates Pedisure.. and lots of solid food. Any milk, water, juice, formula or Soy and Almond milk will send her into vomiting.
It sounds like the thickness of the Pedisure may be playing a big part - you might want to have GI check her out; my daughter vomited profusely on formula or thinned out milk. Since she has had 2 swallow studies and is on what is called nectar thick liquids - swallowing issues are also not uncommon in mitochondrial. This means that if that were the case or similar with your daughter thickening her liquids would allow her to have more of a variety. You can even thicken coffee - I am in the healthcare field and work in a hospital so I see and know a lot from that perspective as well. She also started to prop herself up on her blankets and animals when sleeping to help with her GERD so now I have her on many pillows kind of sitting up as she sleeps.
She sleeps 20 minuets at a time.. then if she does fall asleep around 2-3 AM she will (if allowed) sleep until noon or longer.
DD started out her life waking up and not sleeping at all during the day - I mean at all! I was exhausted, then they told me she should sleep or rest like every 2 hours and luckily she at least rested and I got her into a sleep schedule. Now that is completely off, but I am not exactly sure why, however, she still cannot stay awake for long periods of time in the car either mid morning, mid afternoon, or evening. Mito kids also can have chronic fatigue or fatigue easily - I still get really really exhausted at times. It is a miracle I am still working 12 hour shifts.
She shakes, and her eyes twitch. Her MRI showed 2 small white dots on the back of her brain stem.. we have a meeting in boston May 13th to do blood tests and family history and have her twin tested.
I was flat out told she is going to die. No cure.. nothign they could do. I don't accept this. I foght so hard for these kids I am not stopping now.
Did they say what the black dots were? There is no cure for mitochondrial disease, however, lots of people live with it. Some say it is degenerative - but not always in the way you would think; depends on the case. I have to do a ton of up keep on my body or I get tossed into the hospital but being a single mom to DD and her having health and other issues - that is no longer an option so I learned what I have to do for my body the way I was born. Again, though no "cure" the effects of the diseases/disease process are treatable. Can they cure cancer - no but look how many survivors there are. So if that is what they are trying to say by she is going to die get another opinion and yes keep fighting.
I have looked up some info, and when you tell people what hand you've been given the flood of links and posts hit you and opening up some of them just makes me want to cry. I am not ready to have my child with a feeding tube or sick dying in a bed. I am so overwhelmed.
Links are tough and if you don't want to go there yet then don't, that is perfectly ok. I would just try and look at the facts of what your docs are saying not the what ifs or we think this or this could and "probably" will happen. You know your kid, mito always seems to manifest in a giant regression and that is super scary. IMHO - find a genetics and metabolism clinic/doc/team ASAP. If it is a team, they should have a nutritionist, it only a doc get their recommendation for one. Demand to get in ASAP - if these are all neruo or ER docs they most likely do not understand a lot about mito. The good part is that even late, your DD is hitting milestones, she IS crawling, she DID just start to smile. Also, you are totally apt to have a social worker on your side, every state has some sort of early intervention program that is low/no cost to kids under 3 so see about a total evaluation and what help (speech, physical, occupational therapies) you can get. There are advocates out there too - so keep asking - just keep asking and keep fighting - encourage your daughter too as well!
I am here if you need anything.

mightmom13 · March 2014

I also wanted to add - I am one person with mitochondrial disease and it can manifest in many ways and be mild like mine (though I still could not run/walk/sometimes stand still as a child due to my neuro stuff) and treated with meds or more severe. I have learned that DD could be more severe than me due to how it can mutate. So there are a lot of stories out there and mine is just one but I hope your daughter has a good outcome!

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