Flying back to Cali

I got to see a few of my friends that I love dearly, I wish I had time to see all of them and even other family I did not get to see….sooner than later I hope.

Enjoy some pictures of our time together and note that I missed my flight running to get these kids fidget spinners and sunglasses, apparently the 45 minutes before a flight check-in is time for your luggage to get from point A to point B ๐Ÿ™„, so we had time to go shopping. 

That one time

I got to spend time with my dad and little bro.  It was so nice (a little tiring going west coast to east coast, but still great)

I was busy doing my conference thing all day so one night we galavanted around the monuments until 2am ๐Ÿ˜ด

I highly recommend it, it was so cool and no crowds!


The next day they said to meet them at a park where they were listening to jazz and drinking Sangria, sounded great except for the 90 degree temp and 150% freaking humidity.  I did it despite sweating through my clothes ๐Ÿ˜œ

Then is was back to the hotel to change clothes, have great sushi and walk through the Trump Hotel.

The most impressive bar full of gorgeous decanters.

There were several of these chandeliers.


He leased the old post office and my that building is gorgeous, despite my thoughts towards the man, well done on the decor. 

On our final day they drug me to an art museum…I will be honest, I am not much into history or museums ๐Ÿ˜ด, we then ended with amazing Peruvian food


On our drive home in my hometowns NEW Sheetz I bought pepperoni rolls and a no bake cookie, they were horrible but I was feeling nostalgic and really looking for Caporale’s roll.

We ended my visit with a family boat ride, dinner and some sibling time with Isaac’s lovely girlfriend Emily, this never happens.


xoxo desiree

UMDF Symposium – D.C.

Last week I had the opportunity to attend the UMDF Symposium in D.C., what an amazing experience.

The evening I arrived was registration and prep for Day on the Hill.  I really had no idea what to expect.  Upon arriving later than I wanted due to a delayed flight, I made it in time for the prep session in which we got a packet of information and were organized by regions of the country.  A few minutes into the welcome from the staff, I started to get a sense my perception of the day was not going to be the way I had thought it would be.  I opened the packet to find two pages of talking points and a group of named individuals that I would be attending meetings with along with the names of the Congress member and the person we were meeting with.  I was slightly crushed at this discovery, intimidated by the information, feeling like an undereducated Mito mom for not hearing of any of these issues and the nervous that I was not going to get my agenda taken care of.  I immediately was feeling defeated and sad that I left Daphne and Rich in California and was questioning my purpose.  Of course I kept this to myself and just tried to listen and focus on the job at hand.  I felt like a puppet of sorts for a great cause nonetheless but still not what I was expecting. 

I stressed that evening trying to read and understand the information, talked to Rich and mainly tried to calm myself down.


The next day, bright and freaking early for a Californian, WITHOUT Starbucks, I got on a bus loaded with advocates headed for the Capitol.  Ironically on the bus we were sitting in our group.  So I was also intimidated by Dr. Boles who was in my group and a well-known and respected Mito doc in California, near me.  We walked what felt like forever to the other side of the Capitol to the Hart Building and did not really prep much on what to say, grabbed some breakfast and waited to meet with Senator Feinstein’s staff member, Dr. Pete Curran.  I think everyone in our group was a little nervous, it was the first time for everyone and we really didn’t know each other.  We have brief introductions on how we are involved and then started with the scripted Asks.  Little did I know that my mission ran alongside beautifully with the UMDF topics so I was thrilled.  After our first meeting and having more confidence we realized our group was rock solid!  We had a Mito Doc, a mom of a 22yr old woman who is undiagnosed, a diagnosed and legally blind 42 year old that was just impacted 1 yr prior who also used to be Chief of Staff to a Govenor in Australia and myself, a mama to a beautiful 2yr old girl.  There wasn’t a question we couldn’t answer and not an angle that we couldn’t relate to.  Basically you go through the asks and depending on Republican or Democrat you have different requests and ways to approach a subject.  The hardest part was explaining what a Mitochondria is to those that were completely clueless and no fault to them because that was me over a year ago.  Each staff aid seemed to have different knowledge on the topics and thankfully the health care reform act vote was delayed so we could still have the day.  We typically had 30 minutes to give our presentation, pass out materials and answer any questions, not much time if you think about it.  We were asked to snap a picture from each meeting and #dayonthehill so they could get all the pictures. 


Next we met with Senator Kamala Harris’ aid.  He was clueless on what a Mitochondria is, did not even introduce himself and did not seem interested in anything we had to say but for this meeting we had a lobbyist with us and thankful for this meeting that we did, she understood him and he understood her so our portion was short and sweet.  I think Kamala may be too new and young to take a position on anything Mito related but I will try. 

Our next appointment required us to hike back across the complex, a portion of the grounds were closed due to we think a session being held and visitors and he new fad of protesting.


We were dropped off at Garfield Circle, walked over to Hart, then to Cannon and then Rayburn.  Once in the buildings the walls were long as well getting to each office.  I regretted wearing heels and noticed every single staff member had flats on ๐Ÿ˜ฉ.  The underground tunnels were only available within the house and or senate but we could not take the connection between since 9/11.  The heat and humidity were unreal.

The aid for MiMi Walters was nice and engaging, hopefully we can make strides with her.

Our third visit was with Congresswomen Chu herself, this was exciting as it was our first meeting with the elected official and not an aid.  She was knowledgeable on Mitochondria since she had her PHD in clinical psychology so we could skip that part of our talk and just focus on the asks and a quick background on us.  The personal stories seemed to hold more merit then the science or the asks, but of course you couldn’t have one without the other.  She however only had 10 minutes for us.  The lobbyist prepped me on what to ask her to get to my local government to make my ask a reality.  I was so excited!!  Maybe this is a good time to tell you what ‘my ask’ was…


Mitochondrial Diseases’ do not have a cure or treatment or an FDA approved drug.  They are progressive and ultimately fatal.  This has created the issue of no interest in researching the disease or creating a treatment.  It would not be “profitable.”  However to slow the progression of the disease and make patients feel and function to the best of their ability the Mito Cocktail is needed.  This is comprised of over the counter vitamins and supplements.  Since they are over the counter, insurance e companies will not pay for them, although the dosing is significantly higher than the normal recommended dosing an adult would take.  So this alone makes it very expensive for families to afford.  On average families pay between $500-$1,000 per month.  My first thought for a ask was for these costs to hit your out-of-pocket max so a zero dollar deductible could be reached sooner for already approved tiered drugs so families could get a little relief.  After hearing a few days before this the long arduous process of getting a bill in place, I decided to focus on my other and more main ask and that is to get another bill in place like the one currently in play in Massachusetts, to have Insurance companies pay for the Mito cocktail.  It had been in a favorable position but has been amended a couple times and I believe this can happen in California and then make efforts for it Nationally.  Dr. Boles really explained why this was worthwhile versus going for the orphan drug expense that can be at least $10,000 per month. 

I was so thrilled that somebody I spoke to actually got it, most I mentioned this to looked at me like I was crazy. 

The day was going great and we were on a pretty good high, until our last appointment.

It started off rough, we tried to get in early, so we didn’t have to wait 2 hours, they would not even entertain us unless the Congressman’s constituent was with us, umm what?! Not once during the day did anyone ask that.  

This guy was a real special person, a very radical Republican who loved Ronald Reagan and made Trump seem normal.  Almost every inch of his wall was covered in memorabilia (mostly Reagan and 3 surf boards).  He told us he just turned 70 two days before.  He did not let us introduce ourselves, we were late getting in and he immediately asked what we were asking for.  We knew the approach to take with a Republican (cost savings) so Dr. Boles took that angle.  Our first request was for him to join the Mitochondrial Disease Caucus, he shot it down before we could even finish saying the name, he said caucuses are worthless and a waist of money and he would never join, “oh great” I thought.  Then we quickly mentioned the NIH and DOD efforts just to highlight, asked him to lead the NIH letter and he questioned us hard about it reallocation of funds for NIH and we explained it was not for that but just inclusion of he Mito community into the studies.  Next came the Medical Nutrition Equity Act and my specific ask and he shot those down, all of this talking was by Dr. Boles and his actual constituent was another Doc and she was silent in awe of his behavior.  He said he would never sign a bill that told Insurance companies they had to pay for something but would rather pay the $10,000 a month and have Medicare or medical pay for it, we were so frustrated and confused by his behavior.  He complained about government insurance and how hey had to switch to Obama care and it was expensive out-of-pocket for him, I was dying.  Then he told a story about when his daughter was 9yr old got Leukemia and went through Chemo and how much he paid and not to worry she was cured and was going to be fine.

I was seriously about to jump out of my seat in anger and could see the jaws on the floor around me and pulled out my phone, got my latest family picture up and interrupted the conversation and said “I am so grateful that your daughter was able to get treatment and that there is an FDA approved drug for her, let me introduce you to my 2yr old daughter who has a very rare Mitochondrial disease that has no cure, no treatment and is progressive and fatal and Insurance does not pay for her.”  I am pretty sure my spiel went on a little more but it has taken me this long to cool down.  I did start to breakdown but sucked it up and finished.  I did not breakout a picture of Daphne all day, the others were respectful, this guy was not.  The reality is though we will likely need him and I can’t burn that bridge.  We did have to excuse ourselves from his office to catch the bus and that was after almost 45 minutes, I think in one way or another we made an impression.  He made my glass of wine taste even better that night ๐Ÿท.  I had to give him some endearing comment about his similarity to a certain guy in his office, he loved it ๐Ÿ˜–.


Oh and the picture had to be from the waist up per his young wife so his belly did not show.

The rest of the conference was about networking and attending sessions which was great.  I need to follow-up with everyone I talked to yet and will but also trying to manage my inbox from work ๐Ÿคฆ๐Ÿผโ€โ™€๏ธ.

Every two years UMDF goes to the Capitol, if anyone is interested in joining me, just let me know.

Xoxo desiree

Summer has started

I can hardly believe that Adelaide just finished 3rd grade but this sweet, sassy, independent and amazing little lady is officially a 4th grader.


The last day of school resulted in me picking her up early from after school care per her request and then getting begged by her friend to bring her home as well which gave me an excuse to get them Snow 2 Go (my guilty summer pleasure of the most delicious shaved ice I have ever had).

The first movie in the park (outdoors on a big screen with snacks and kids running around everywhere)  luckily it was Daphne’s favorite movie and where she was a little unsure at first she ended the night in all smiles, and stomping her foot to the music.

Today we surprised Rich with Deep Sea Fishing with a very early wake up at 4am then brunch at one of our favorite spots afterwards. 

Daphne didn’t like two of the guests on the boat but luckily fell asleep and missed he entire fishing experience and woke up moments before we docked.  Thankful she was happy for the boat ride and brunch!

I would have loved to have slept on that boat, rocking waves, the sounds of the waves and the cool salty air, yes please!  That girl was in heaven!

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We did not catch any fish we could keep but Rich an Adelaide did both catch a couple Sculpin.  Did you know the fins are toxic if they hit you, as the skipper said not toxic like your going to die but it’s going to hurt really bad!

Everyone was tired except Daphne and took a nap when we got home. 

I hope all the dads out there had a great day!

Xoxo desiree

Family Photos

A few weeks ago and VERY last minute our local photographer offered a mini session and the timing was perfect with Daphne’s 2nd Birthday. ย  Daphne’s and my dress arrived the day before and I forgot shoes for my non-walking tiny footed girl so the grass hid her feet well.

The day of the pictures was very busy, the entire weekend was but especially the day of, we hosted Adelaide’s end of the year swim soccer party/Daphne’s 2nd Birthday at our house. ย Daphne decided to party the night before, my way of describing her not sleeping, waking in the middle of the night and wanting to play/talk very loud for HOURS then sleep with us so we get just a sliver of an edge of our king size bed. ย It was killer she was up from about 2-4am.

Despite her efforts the days events went on as scheduled and so did the family pictures which turned out pretty well knowing what we were dealing with. ย Daphne did not want to cooperate and was over it by the time it came for her single shots, we may try again with just her.

Here are a couple of my favorites and I have to say, my girls are just dreamy!

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xoxo desiree

Gymnastics Competition

5 years of gymnastics has gotten Adelaide to this point.

I am so proud of her in all that she has accomplished.  We purposefully chose a small mom and pop type studio that focuses on building her confidence and inner person versus the big mega gym that is all about competing.

This is their version of a competition.

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BIG NEWS ALERT

After 3 tough months battling the insurance company to continue coverage for Daphne’s medicine (N-Acetyl-Cysteine) that may partially reverse her disease…
I WON!!!
Excitement is an understatement ๐Ÿ™Œ๐Ÿป
My last update on this topic was winning the appeal to get a 3 month courteous fill to give me time to fight them, many hours on the phone with various agents, trying to figure out the right form and process, trying to get the doctors office to do their part because in the end I can do all the work except complete the final paperwork, so annoying but thankful they stuck it through with me and I will be sending them a sweet ๐ŸŽ‚ treat for being so sweet (a little exaggerated ๐Ÿ™„), but my dad always taught me “you attract more bees with honey”!
A special shout out to Paula at the insurance company.  I fell in love with the first agent I made an appeal with several months ago but Paula took it to a whole new level and really cared and took ownership in helping me.

You may think it’s easy but seriously some people and processes are setup just to be difficult just to make you quit, I swear.  

Follow me for a minute here…. 

Believe me it’s true, in my own job I see it and even play off it ( sorry not sorry sometimes) so that is just the case in other careers as well.  

One thing that has always given me the edge to not giving up are those people that say “Who’s going to own it?  Are you going to own it?”  They are saying this knowing good and well they should be the ones owning it but you being the better person, steps up and says, yes I will.

In the back of your head your doing this, because 1. You’re so good at it ๐Ÿ˜œ, 2. You will learn valuable lessons along the way, 3. At some point in the future it will benefit you.

So thank you to all those who have done this.  You have gotten me to this point.  Thank you for teaching me how to help others want to do this as well. My rule in dealing with the insurance folks is to be nice, courteous, understanding, listen, be realistic in what I am asking for and take ownership of the issue.  Paula did all of those things and more.  She called me everyday when she said she would, to check on the status and she made the final step to get this approved happen!  Paula my dear, you have just made my dreams for Advocacy for Daphne’s Lamp a reality.  

I think this shirt was made for me and every other Mito mama I have met!

***It’s not my most glamorous picture but I will be honest I am usually in pajamas by 6pm and tonight squirmy little Daphne would not cooperate very well but that’s my life.

This is just the beginning, I am going to D.C to meet with Congress June 29th and I will be pushing for the next big thing.

Until I have to appeal again in another year, I am making steps to make this fight even easier, stay tuned for those details.

This is for my daughter Daphne and what the future of those involved in with #daphneslamp will look like. I don’t take NO for an answer and I will put up one hell of a fight, so get ready. Get on board with the movement it’s going to be BIG!

#mitostrong ๐Ÿ’š #daphnestrong

One thankful and Happy Mama tonight ๐Ÿ˜Š

The Road to Diagnosis

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?

THE BIRTH

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.

FIRST MONTHS

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.

Xoxo desiree

Charlies Fight

This is very important to me and if you are a parent it should be very important to you as well.

There is a little boy in the UK with a rare Mitochondrial Disease that is being denied treatment by the government and the hospital that is caring for him.

The hospital is stripping the parents of their parental rights for this baby.

He was supposed to have his ventilator turned off last night at Midnight to die, but the parents have an appeal in with the Supreme Court who will make a ruling June 8, 2017, this is their last option.

The parents have raised the over 1 million pounds needed to transport him to the US to a doctor that is willing to try a life saving drug on him that has worked for other children.

There is a US Facebook Group where you can follow along called Charlies Army USA.

There is alsoย www.charliesfight.org

Charlies mums facebook page is public: ย Connie Yates

ITV London documented the parents fighting for their sonย you can watch the video here Charlies Fight

There are several petitions to sign, they do help so do it:

Petition 1

Petition 2

Petition 3

I would not lead you all down the wrong path, I promise. ย Please take a few moments to sign the petitions and follow the facebook groups.

This issue and disease hits home. ย I would have to die before I would let anyone tell me how they were going to care for my child let alone tell me they were going to kill her!

If you have any questions let me know and I can get them answered.

xoxo Desiree