Oct 2011 - EXTRA HELP!!! Brian Lounsberry, Stefanie Heaser, Carrie Demmon

In October we hired extra-help to help us teach our little one, Aliyah. (Brian started in Aug 2011) It hurts me when I try to teach her how to play with her toys because she would not understand how to. I just want to play with her and not worry about her differences and compare her with other children her age. Which is why we wanted extra help since sometimes I found myself crying because my little one at age 2 wouldn't scribble on paper for me or knew how dolls were played .... back in Nov.2011

We have interviewed aggressively and found great people to be part of Aliyah's life.

Carrie

"I met Aliyah almost a month ago. When I first met her, she cried and was distant. She was close to her mom. When I worked with her for the first time, I took her to the playground. Lizette walked with us to the playground. Once Lizette left, Aliyah got upset. She resisted me and wasn’t interested in the playground. She cried and tried to leave the playground. I was resilient, and I didn’t give up. I’ve continued working with Aliyah and each time the experience gets better. There are still moments when she cries or wants to play with her mom, Aliyah knows who I am and enjoys playing with me. She has come to me with her arms raised and smiles and laughs. We have had wonderful moments at the playground, and I’ve even seen growth in her understanding. She is beginning to learn to sit down at the top of a slide. I love to watch her explore when she sees a dog, cat, or new toy. I’ve heard Aliyah use the sounds p, b, and she has even expressed the sound ‘t’. She also likes to click her tongue. I love singing with Aliyah, and I am enjoying being a part of her life. It is challenging to work with her which makes me appreciate the work Lizette and Sean do each and every day." 10/23/11

Brian

"When we started (mid Aug) she wanted to communicate but couldn't find a way, also wanted to play with peers an could't and making sounds was about 3-5 sounds. First thing I did was see her in her home setting, she loves books and toys with sounds/music so I started a step ahead of myself. ABA No tear learning which is immitation to learn on a baseline then after she pass trialed in then mastered at a 90% rate on 3 separate sessions. But 1st we had learn immitation play.

So I spent a week on just simple stuff: touch nose, tummy, eye, tounge, ear, hair. had to oversome putting fingers in her mounth. So we started on her favorite toy dolls and then after a week she had dropped 90% of fingers in her mouth. Then started to do immitation play like on top, under, in, out on a toy then mimic the sounds out of stuff mouth, takes about 3 separate sessions to say the sound.

Sounds she can now say:

ah, bah, cah, duh, fff, ga, la, ll, ma, mm, pa, sss, wah, and the top of mouth "click sound"

Goals we are working on: basic 2 yr old

2 word communication- its verbal prompted better when we started with han over hand everything. ex. I'd stop music- che say more music, signed after learning the sign n making it to the best of her abilities.Full moition with gross motor and fine motor. ex. right hand zips up, left hand zips down. don't know why it happens.

Also working on teeth sound like ta, and some tough ones like zah and close ones to ga, like ja, ya, and also trying to make an O sound with an O movement. We started thursday 9/15 signing mom by placing her thumb to touch her chin and it took 5 sessions to touch her chin with her thumb st 50% hand over hand. But she smiles when is a sign mom because she wants to learn it. Also, she wants to play with her baby brother, been working on nice touch with 1 or 2 fingers and no pinching with anyone else too. Also learned to wave properly and blow a kiss with ma sound. " 9/21/11

Stefanie

I started working with Aliyah in the Fall of 2011 not knowing exactly what I was getting in to. This is what I observed: a little girl who did not know how to play with dolls, could not put her jacket, hat, socks and shoes on, did not verbalize, could not identify a puppy, a cat, or a fish, did not use sign language, and did not know how to jump into a swimming pool. At this point she was still eating solid food, but her seizure disorder was getting worse.

Today I observe the exact opposite. Aliyah is the most resilient little two and a half year old I have ever had the pleasure to work with. This is what I observe now, just 4 months after I started working with her; Aliyah can say "mama" and "papa." Not only can she identify cat, dog, and fish, she can actually say "puppy." Her verbalizations have increased from just a few a day to constantly talking and making sounds. When we are ready to leave home, she sticks out her feet to put her shoes on and she puts her own coat, hat, and mittens on. Aliyah went from hitting her baby doll to feeding, burping, and rocking it. When Aliyah wants more of something or simply wants to tell you that she's happy, she uses sign language to communicate. She even jumps into the pool! She's two and a half! It's incredible! It's heartbreaking to see her condition get worse, but it's absolutely amazing to see her achieve so many things people thought she would never be able to. The possibilities are endless for this little girl and I do not doubt that she will achieve them all.

Nov 9.2011 APPOINTMENT AT JOHNS HOPKINS!!!!

AFTER CALLING WEEK AFTER WEEK, WELL MORE LIKE EVERY DAY, WE FINALLY HAD AN APPOINTMENT ON Nov. 9th.2011. FINALLY... FINALLY.... THE SQUEAKY WHEEL ACTUALLY WORKS!!!! NO KIDDING!!!!

I knew we were moving to the east coast and was in fear of traveling to a new setting where we would need to start from scratch especially now that I was starting to trust Dr.Joshi with Aliyah.

We FAXED EVERYTHING... LITERALLY EVERYTHING.. FROM ALL FOUR HOSPITAL THAT Aliyah HAS BEEN HOSPITALIZED IN AND HER PEDIATRIC CLINIC.

WE GAVE THEM EVERYTHING.... ALL of her video-EEGs, MRI, blood work results, IQ testing, reports from her occupational - physical - speech therapists. Anything that had to do with my baby I gave it to them.

The social worker from Johns Hopkins gave us flight vouchers and a free place to stay called "Believe in Tomorrow's Children's House" (Very similar to the Ronald McDonald House).

I cannot tell you the high hopes I had before coming to Maryland. Hoping Dr.Kossoff would tell us Aliyah's condition is "treatable" meaning manageable......... well more like fixable. Unfortunately that was not the case- not at all.

Basically he looked over Aliyah's history and told us we are doing everything we should be doing and is happy with the work Dr.Joshi is doing. And told us we were very fortunate with the work Dr.Alsayouth did on my baby when she was first diagnosed. He said we were fortunate we fought aggressively with the medications from the beginning.

He told us to go up on the Keto-diet to the 4 to 1 ratio. He told us NOT to do Nitrazapam and mentioned how most likely Vigabratin will not do much for her because of her age being 2. He told us we could go back to topomax or try depakote. That was basically our conversation. :( Nothing more we could do.

He let us know he has patients that are seizure free but have not progressed cognitively. I told him I want to move to Maryland and not to New Jersey because of his expertise. But he let me know there isn't much for them to do for Aliyah... again and again. I do believe Aliyah will be in great hands with Dr.Kossoff! As Aliyah was in GREAT CARE under Dr.Joshi supervision and guidance.

I didn't care we were still going to move. Just in case Aliyah's condition would be a life long one. I needed Aliyah to be seen by a highly recognized institution. Everyone is always telling me you can't go wrong with John's Hopkins. :)

I AM GOING TO DO THIS MOVE FOR MY DAUGHTER!!!!! WHO KNOWS WHAT HER INFANTILE SPASMS MAY LEAD TO!!!!!

I am not going to deny. I was devastated after the appointment . I felt that some well most of my HOPE was taken from me. But I was going to keep on being optimistic. Hopefully Aliyah's IS miraculously goes away... I don't know at that point I was leading more towards God and less towards her neurologists.

I really wanted this appt. so it could have been an easier transition from Dr.Joshi to Dr.Kossoff. Now we know who he is and he knows who we are once we established residency in Maryland.

Below is Aliyah's future neurologist Dr.Eric Kossoff once we move to Marlyland.

NOV. 4, 2011 AS A MOM I FEEL USELESS....

I am so close to finishing my degree in Microbiology, and plan on moving from Iowa to Maryland so that Aliyah can be near Johns Hopkins and be closer to my family because we are in need of emotional support through this rough time. My mother- I feel is the one person who feels my pain, though my husband shows it in different ways. I need someone to help me get through this. My daughter's life has changed.

Some one once told me to lower my expectations for Aliyah, at the time I was furious and within myself was like: HOW DARE SHE!!!! WHO DO YOU THINK YOU ARE TO TALK TO ME LIKE THAT? I AM THE MOTHER OF THIS BEAUTIFUL CHILD. I WILL NEVER GIVE UP HOPE. I HAVE HOPE ALIYAH CAN OVERCOME THIS AND BEAT THIS. I BELIEVE IN THE LORD'S POWER. HE MAY "CURE" ALIYAH AND REMOVE THIS ENTIRE NIGHTMARE FROM OUR FAMILY.

From then on I knew I needed to move to the east coast to be closer to my mother so that she can help me keep my sanity!!! GOD, PLEASE HELP ME! I know I have been in the dark and have deeply envied other parents and their joyful times. Why Aliyah? Why? Why any child? Why? I hate it when I find myself asking that stupid question to which I will never find out.

I feel useless, a wreck, weak, beaten down, and shaken down. But Aliyah cries when I cry. She loves to cuddle with me. My little one is worth all of this pain and so much more. I just wish I could take her spot. I would do anything... anything for her. All I want is for her to get better! Damn I hate this WHY WHY WHY!!!

Ever since I was a child and played with my dolls I planned out my "future" daughter's life(now Aliyah). And now people are making me resign and rethink a different plan for Aliyah.... not this year... and possibly not next year.... When will we heal as a family? When will this pain ever end...?

I had no idea how much a mother could possibly love her children..... I am blessed to be the mother of my children~ Aliyah and Bruce

Aliyah with her feeding tube

Poor baby, she had no idea why she had a tube hanging out of her belly, she knew if she pulled it pain would struck.

At the hospital they taught us how to feed her, "gravity feeding", meaning no apparatus that calculated/monitored her feedings. The hospital helped us locate an agency that supplied the syringes and tubes.

Half of her meals were formula and half were her oral keto meals. The nurse told us we could tape her tube to her belly but it left marks and messed with Aliyah;s delicate skin, so now I attach it to her diaper and most of the time she wears onsies so her tube won't be in the air.

Her little brother, Bruce who at the time in november was 7 months, found her tube interesting and always wanted to pull on it so I would make sure he never had a hold of it.

I have hired someone to give her swimming lessons. We had to wait 2weeks after surgery until Aliyah's tube can be submerged in water. She loves the pool!!! Eventhough it hurts me to see her have the feeding tube at least I can say I am doing everything in my power to see Aliyah is getting the best treatment out there!

Dr. Joshi wanted us to stay in the 3.5 ratio until further notice during the time of her tube placement.

FEEDING-TUBE....NOV.2.2011

Yes, we were going back and forth whether or not to go with the feeding tube. Aliyah was eating again. She was no longer throwing up and enjoying what she was taking in. So we decided to cancel the surgery appointment for the G-Tube placement... But soon enough after 1 week of eating her meals she began to throw up. The kept on telling us it was her body rejecting it.

Dr. Joshi called and told us it was either putting in the G-tube or no diet and going with a new treatment of Vigabratin. We believed in the diet so much we agreed to go with the feeding tube just so Aliyah could stay with the diet.

On Nov.2.11 Aliyah was under anesthesia to have her g-tube placed. When she woke up she was very irritable. Nothing calmed her down, she kept on wanting to hit her head.

When we were discharged half of her meals were solids and half of her meals was the Keto Cal formula. We no longer had to fight her to drink her cream or medicine. All liquids went through her tube.

HOSPITALIZED AGAIN! Sept 26-29th ... SHE CAN'T STOP VOMITING...

We could not stop her from vomiting now anything she had in came out immediately. EVEN WATER!!! I called her local ped. and they told me to call her neurologist, and they told us to drive to Iowa CIty ASAP!

Blood work showed she was too "ketotic", to help her from throwing up they prescribed her strong anti-acid medication and continued using the increased dosage of Poly k-crystals. She was under IV and did not eat for 2 days, they prepared the KetoCal formula but she hated the taste.

On the second day she appeared to be hungry, so we gave her a little bit of hotdog, she ate it so fast but her body still threw it back up she could not control this. It was scaring her.

When I told them I have been syringing her cream Dr.Joshi was upset and said I was regressing her learning in eating. But I rebuttal by saying it was the only way I can get her to drink/taste the cream.

She came back and advised me to deeply consider a G-TUBE.

NO! I DID NOT WANT MY DAUGHTER TO HAVE SOMETHING MORE TO SET HER ASIDE FROM THE "NORMAL" CHILDREN. PLUS I HATE THE IDEA OF SCARS ON MY BABY!!!!

But since she couldn't intake any of her food I had no option but to accept it. Since there was no slot for an operation on Aliyah's G-tube they scheduled us for next week to have the G-tube implanted on my baby.

I felt useless.... my poor baby is going through so much.

Even though she was going though so much this was around the time she was calling for me... calling me.. "mama" ...

I may be smiling in this picture but believe me I feel desperate and unstable.... But around Aliyah, I have to put my best face out for her. 

Blood clots..... Sept 23.2011

Aliyah has received her flu shot. After being one week and a half of being seizure-free, 15 minutes after her influenza shot she began to seize again, first time in the glorious 1.5 weeks of being seizure free.

Also she began to throw up her meals. It first started up she was gagging. She then did not want to eat anymore. Yes. I did "force" fed my daughter. I needed the diet to be just right!!!! :(

Damn the hot dogs and damn the cream. :( I loved the results it gave Aliyah but she was throwing u all of her meals for 3 days straight. And to top everything else off we found little blood clots in her urine. I called the doctor's office, of course the nurse told me to keep a close watch. Again another blood clot in her diaper. This time we rushed to the hospital.

There they took an x-ray which what the pediatric feared to have seen kidney stones. So then Aliyah was ambulanced from Mary Greeley to the University of Iowa Children's Hospital. They had put a bag to collect urine to collect sample, by the time we arrived about 1.5 hrs later, we saw another blood clot a little less than a quarter size.

They ran some blood work and checked to see if Aliyah had passed a kidney stone.

Urology and G.I. both came back and told me they saw nothing but Neurology told me they did see two small spots as did the pediatric back in our home town. But I went with the specialist had to say. What they did do for us was TOOK ALIYAH OFF OF TOPOMAX because it increasing her chances of developing more stones and INCREASING THE DOSE OF CITRAE POLY-K CRYSTALS since in her blood work and urine samples it showed Aliyah was losing much of her calcium intake out in her urine, increasing the dose will help in maintaining it in her body. We were then discharged, they told us not to push her eating. She did eat sometimes but I no longer force fed her because she would have thrown up.

A GREAT DAY TODAY!!!! SUCH A GREAT DAY!!!!!

I just don't know WHERE to begin!!!

She is understanding more and more everyday!!!!! I am sooooooooooooooooooo happy for her..... all this happiness is making my chest hurt!!!!

When I asked Aliyah to give me a kiss she puckered up :)...
She tries to handle door knobs!!!!! I am pretty sure she is understanding the reason behind them!!! :)

I am almost certain she knows her name!!! FINALLY!!! and when I ask her to follow me , most of the time she does!!!!

She always wants to be right next to me..... literally RIGHT NEXT TO ME!!! I LOVE IT!!!! ABSOLUTELY LOVE IT!!!! I love being her best friend!!!! I love her unconditional love!!!

I don't know why I am crying but I have soooo much joy right now..... I was told by her specialist she may never be able to communicate with me and today she has more than ever!!!!!!!!!!! she is proving everyone wrong!!! little by little... I will be patient... I will wait patiently for the day she calls me mommy :) Everyday I wait for that one word!!!!!

I just have to be patient.... I know she will be alright.... I know I will make a safe and beautiful future for her!!! I just do....

(Words I am almost sure she understands!!!)
Sit
outside
up
thirsty/ drink

No/stop
(Maybe knows)
shoes
diaper

food

(Currently working on)

clap

hi/ bye (we are working on her waving)

I know many of you lovely parents are asking about Aliyah's speech, occupational, and physical therapy updates.... I will try my best to get these posted soon....

Please have faith on your bundle of joy!!!! and continue to be a strong advocate for them!!! together I know we can cope and try to be the best parents for our children .....

Exploring a Treatment for Epilepsy | Video - ABC News

Exploring a Treatment for Epilepsy | Video - ABC News

Sept.7.2011 Email from Dr.Joshi over Aliyah's genetic results/tests

Hello Lizette and Sean,

I hope all is well and Aliyah continues to make progress.

I have now received almost all the results for the tests recently sent.

All are negative so far.

These are as follows:

Chromosomal assay- negative for ring 20

CMA pending.

CSF negative for GLUT1 DS

CSF- normal amino acids, low HVA, other metabolites normal, no evidence of folinic acid responsive seizures

Urine- normal pipecolic acid

Urine organic acids no pattern specific for disease

SCN1A- negative for deletions/ duplications

Rett syndrome sequencing- negative

MERFF- ( myoclonic epilepsy ragged red fibre testing sent to Athena) negative.- mutations for MERRF 8244;8356;8363;8296

Redox panel- negative

CSF lactate and pyruvate- normal

Normal pyridoxal 5’ phosphate in CSF

CDKL5- pending

I think at this time, I would wait to see her response before commencing on more testing as any more testing now will be invasive ( muscle biopsy for example) and she is looking like she has cryptogenic spasms.

Have great day!

Charuta Joshi MBBS, FRCPC

Clinical Associate Professor

Division of Pediatric Neurology

2506 JCP, UIHC

200 Hawkins Drive

Iowa City 52242

Aug.19.11 Lumbar Puncture, PET SCAN, Video EEG AND SEIZURE LOG Aug 5- Sept 6.2011

Lumbar puncture (she had to be hospitalized

during this stay Aug. 19.2011):

She already had LP testing done but because Dr.Joshi wanted to use it for other

genetic testing Aliyah former doctor didn't recommend, that batch of culture was

already degraded since it has been over a year.

The PET scan was done so we can see if we could LOCALIZE where her seizures start

so that that section can be removed if possible, but unfortunately Aliyah seizures are

to generalized nothing can be done. But Dr.Joshi did say that maybe just maybe we

can localize it because perhaps the seizures appear to start all at the same time but

in reality they may not be, a difference make in less than a nano second. That type

of technology is not available in Iowa, Dr. Joshi made a comment that maybe she

can refer us to go to Chicago to get it checked.

During that hospital stay they did a video EEG of Aliyah. Her IS was still there. This

is when Dr.Joshi recommended the increase of the diet to either 3.5 to 4.0 but to wait

for another couple of days just in case the ratio she is on kicks in. We received bad news

during our discussion over Aliyah's EEG. She told us that Aliyah would most likely not have

an IQ of 100 since she is over 2 years old and still with IS.

YES.... I WAS DEVASTATED.... WHAT PARENT WANTS TO HEAR THAT!!!!

SUMMARY OF ALIYAH'S SEIZURE LOG

WE HAD NO IDEA WHAT WE WERE GOING TO FACE!!!

WORK , WORK and MORE WORK!!! But we were okay with it as long as the ketogenic diet was going to make Aliyah seizure free....

AUG 1st-4th: The day we were discharged we didn't see any head drops, my assumption was because she was so tired and sleeping throughout the day....... But the next day we did see head drops :(

8/5 3 head drops

8/6 4 head drops

8/7 3 head drops

8/8 5 head drops

8/9 7 head drops

8/10 3 head drops

8/11 4 head drops

8/12 *2 head drops + evening seizure log lost

8/13 6 head drops

8/14 9 head drops

8/15 5 head drops

8/16 3 head drops

8/17 *7 head drops + lost count of seizure log

8/18 ** more than 8 head drops (difficult to catch because was admitted at the hospital too many doctors and nurses couldn't keep an eye on my baby's head drops)

8/19 ** more than 2 head drops (had an Lumbar puncture done was given glucose, it was necessary to have the procedure done)--- KETONES LOW

couldn't keep better count because of the 2.5 hr drive back home, then she slept rest of the day

8/20 * more than 11 head drops, too many evening seizure log

8/21 * more than 4 head drops, 16 eyes shifts (this I started to include eyes shifting to the side)

<<<< COMPLETELY OFF ACTH AND ON HYDROCORTISONE (HAVE A GAME-PLAN TO WEAN HER OFF OF THIS ONE)>>>>

8/22 2 head drops

8/23 3 head drops

8/24 4 head drops, 3 eyes shifts

8/25 1 head drops

8/26 N/A :)

8/27 14 head drops, 6 eye shifts (HUGE cluster of 18 seizures, and 2 individual)

<<<< Tweaked from 3.0:1 ratio to 3.25:1 ratio >>>>

8/28 6 head drops, 3 eye shifts

<<<< Tweaked from 3.25:1 ratio to 3.5:1 ratio >>>>

8/29 N/A :)

8/30 1 head drop, 1 eye shift

8/31 1 head drop, 5 eye shifts (also couldn't tell if she was having absence spells)

9/1 1 head drop, 2 eye shifts

9/2 3 head drop

9/3 1 eye shift

9/4 N/A :)

9/5 1 eye shift (maybe absence spells)

9/6 2 eye shifts

*** I THINK 3.5:1 ratio did the trick!!!!!!

I must note that corn puffs was given to my daughter by her therapist, she forgot
my daughter was on a strict diet. Aliyah suffered by having clusters of seizures....
The counts were lost, but the awful experience is still remembered...

This just made us more alert who was around her and to be strict more than ever
when it comes to her diet.

Response email from Dr. Joshie Aug, 10th

Hello Lizette and Sean,

I am sorry to hear that Aliyah had to be admitted. I can completely feel your anguish. I know that you have been great advocates for Aliyah and knew that something was not right from the get go.

I have now looked at all her notes in the electronic chart.

I have yet to see recent labs that may have been done in child serve.

I am still catching up with all the backlog emails etc but decided to write to you so you know what I am thinking.

Your appointment with me is not till the 19th August and I decided to write so we can get organized on what needs to be done.

This is a LONG e email but you will ne able to review it- AND WE CAN STILL TALK LATER- instead of me talking to you FIRST and then you feeling overwhelmed with extra information

Re diagnosis:

1. Aliyah had hypsarrhythmia initially and then modified hypsarrhythmia in f/u. she has drops/ continued myoclonic seizures. In infancy these are called infantile spasms and later are also called epileptic spasms- a type of myoclonic seizure. Thus the terms are used as a continuum.

2. I had also spoken to you about admitting her and starting from scratch at the last visit- with doing a lumbar puncture etc as some of the initial tests were screening tests done in DesMoines.

3. At the last clinic visit, I sent off blood tests for the Rett syndrome and SCN1A. The Rett syndrome test is negative but the SCN1A is still pending…

4. I was hoping that I could tie in some of the additional genetic testing after I had received these test results back- however as Aliyah got worse, you were already admitted before we could coordinate the tests.

5. Regarding your friend’s suggestions, for the patients with GEFS+, there is a strong family history of fever related seizures and also the initial presentation of the child is fever related seizures.

6. For the “ female version” of the SCN1A I think the friend is referring to a condition for PCDH19. Again patients with this condition present with a lot of fever related seizures- not something that Aliyah has done.

7. However, I am not averse to closing the doors on any possibility- but when the tests are very expensive- with a chance of you having to bear some costs, I wish to start with the best fit and then move from there.

8. If Aliyah has a genetic cause for epilepsy, the chance of a “cure” is small as it is not possible to alter genes. Thus if we do the tests in a step wise fashion although you may wait upto 3 weeks for each test, please do not feel that you are wasting precious time in terms of treatment.

9. Considering the fact that Aliyah can have a genetic cause for her seizures, I have purposefully avoided discussing with you some medications that can worsen such seizure types (Dilantin, Tegretol etc).

I am aware that this (GENETIC PROBLEM) is possible for Alyah and will continue to check her as you also have a little one at home.

10. In upto 70% of patients with infantile spasms a cause can be found. I am more interested in testing her for a cause that is treatable by medication immediately. So I would propose testing her with lumbar puncture first as the tests to be done on the spinal fluid can not be done on blood and if there is a chemical abnormality in her fluid (this is a different issue from the genetic test), we can try to correct it.

I am very open to discuss Aliyha’s case with your friend’s epilepsy doctor- with your permission- so we can brain storm together to get Aliyah better- if you think this is what needs to be done.

Re EEG:

I am going to order an EEG for Aliyah and we can also do the LP during the admission for the EEG. If the EEG shows that the drops are coming from ONE focus, I shall order additional tests ( called PET scan)

Charuta Joshi MBBS, FRCPC

Clinical Associate Professor

Division of Pediatric Neurology

2506 JCP, UIHC

200 Hawkins Drive

Iowa City 52242

Weaning off from ACTH and on the KETOGENIC DIET

Our nutritionist, Karla Mracek wasn't expecting to start Aliyah on the Ketogenic Diet so soon... she had set up an appointment 3 weeks from our day of admittance to the hospital.... She came into our room and asked us to start the Modified Atkinson Diet instead and come back in 3 weeks as schedule.. because she was busy starting the Keto Diet with 3 other patients during our stay....

Of course I was furious............ I know for a fact that when I first spoke with her 3 weeks prior to Aliyah's admittance I told her we were ready to start the Diet since ACTH wasn't looking promising... But she didn't count that as declaring anything because Aliyah was still weaning off of ACTH!!!

I did not want the Modified Atkins Diet.... I did not want me daughter to have 40 seizures a day for the next 3 weeks..... I could not believe she asked me to wait... I could not believe it!!! Yes everyone I did "B####" at her... Believe me I did not mean to!!!! I was just very frustrated!!!! I needed something done for my daughter!!! I asked her what was so hard other than setting up recipes that computer software generated!!!! What is so hard to ask the nurses to collect blood samples? What would be so hard for me to check her ketones in her urine? WHAT IS SOOOOOO HARD ABOUT IT!!!! MY DAUGHTER WAS SEIZING!!!!I ASKED IF THERE WAS ANOTHER NUTRITIONIST THAT CAN START ALIYAH ON THE DIET... she said no, she was the only one qualified/experienced...... At last she did say how she will try to fit us in during our stay there!!!!

Dr. Matthews came in our room and told us we were going to start the diet... also mentioned how Karla cried (I felt awful.. I really did) and how we should give her a break! Well who was going to give my daughter a break???? I will do anything to get things going in order to get Aliyah seizure-free even if I have to step on a couple of toes for my baby.... Aliyah can scream out "Help me"... she can't say "I want these seizures to stop"... I am her voice.....

When Karla came in we thanked her so much!!!! We are fortunate she has a BIG HEART!!!! I just hope she knew I was acting like a mommy / human... Anyone put in my shoes would have done the same .... When you are denied the possibility of your child becoming better and asked to wait a couple of weeks for that possibility..... no parent should have that patience!!!! YOUR CHILD IS IN NEED OF SERIOUS ATTENTION!!!!!

Today I still appreciate Karla and Dr. Joshie!!! :)

The first day- August 1st:

Karla gave us literature to read: The Ketogenic Diet by John M. Freeman and a pamphlet that explained briefly the diet. She also gave us a weighing balance that measures grams to take home and a food itinerary for us to follow for the next 3 days. The book said she would need to fast for 24 hours, but she disagreed with this part of the protocol because she believed it was not needed for her body needed that part for a quicker onset of ketosis, also because Aliyah did not eat for a full day because of her constipation prior to the start of the keto diet. She explained the reason for Aliyah’s admission, in order to monitor her seizures during the diet, make sure all of her medications were carbohydrate-free and sugar-free, and of course to guide us for the first couple of days in person.

“The typical ketogenic diet, called the "long-chain triglyceride diet," provides 3 to 4 grams of fat for every 1 gram of carbohydrate and protein. The dietician recommends a daily diet that contains 75 to 100 calories for every kilogram (2.2 pounds) of body weight and 1-2 grams of protein for every kilogram of body weight. If this sounds complicated, it is! That's why parents need a dietician's help.” (http://www.epilepsy.com/epilepsy/treatment_ketogenic_diet)

Her first meal was a Keto Egg Nog at 12pm

The meal consisted of :

40 grams of cream

27 grams of whole milk

22 grams of liquid egg

2 grams of Splenda

3 drops of pure vanilla extract

3pm meal was Hot Dog, Cheese, and vegetable

25 grams cooked carrots

25 grams cooked hot dog (Classical beef frank)

10 grams American Cheese

63 grams heavy cream

5pm Keto Egg Nog

”The kinds of foods that provide fat for the ketogenic diet are butter, heavy whipping cream, mayonnaise, and oils (e.g. canola or olive). Because the amount of carbohydrate and protein in the diet have to be restricted, it is very important that the meals be prepared carefully. No other sources of carbohydrates can be eaten. (Even toothpaste might have some sugar in it!). For this reason, the ketogenic diet is supervised by a dietician.” (http://www.epilepsy.com/epilepsy/treatment_ketogenic_diet)

****Karla gave us a list of Low carb and carb-free products.

We had to change and be aware of ointments, moisturizers, Lip Balms, sunscreen, toothpaste, fluoride supplements, dentist office products, shampoo, hair conditioners, pain relievers, laxatives, baby wipes, antacids, foot powders, insect repellants, deodorants, soaps and hand sanitizers, shaving cream, non-carbonated beverages without sucralose (splenda), electrolyte replacement beverages, sweeteners…. These were some that were mentioned to us to look out for.

Second day- August 2nd:

I asked the neurologist on call Dr, Bossuk to order a helmet for my daughter so that if she does fall when in daycare her head would be protected.

I also asked him for his opinion on my daughter’s case. He believed Aliyah might have a normal life since she is running, walking, climbing, and making verbal noises ma, ba, pa…. But no one knows right now, she is too young to make judgment. This was all good news for us because it gave us hope… He did make it clear it was only going to be determined by the activity of her seizures. We needed to find a way to control her spams….

8am – Keto Egg Nog

12pm- Keto Meal

5pm- Keto Meal

7pm- Keto Egg Nog

Aliyah was extremely tired, Karla explained it was because of the change in energy intake… from glucose to keto.

Shee slept for most of the day. When she was awake she had 9 head drops, sometimes she would have fallen on her face if I was not around to catch her during her head drop. Her ketone levels was low.

Third day- August 3rd: ALIYAH’S BIRTHDAY!

8am – Keto Meal

12pm- Keto Meal

2:30pm- Keto Snack

5pm- Keto Meal

7pm- Keto Snack

For her 2 yr old B-day she couldn’t have a traditional b-day cake …….. This is when I first realized our lifestyle will change.

*** Aliyah was still under high dosage of ACTH so she was ALWAYS HUNGRY!!! At the time we were on the process of weaning ACTH off her system since it didn’t help in controlling or diminishing her seizures… At first there was a little hope because we saw some decrease in her head drops but then they came back strong while taking high dosage of ACTH …. Also we were told ACTH may have been the reason why her blood pressure was so high and why she was so badly constipated.

Aliyah showed no head drops and her ketone level was moderate.

Being discharged --- August 4^th

Karla gave us a website to go to adjust, make up new recipes of meal and snacks. www.Ketocalculator.com

Along with our user name and password so we can access the website. She already set up how many calories Aliyah needed to intake daily (1100 calories) and started her off 3:1 ratio (Aliyah Keto Diet “dosage”)

“A ketogenic diet “ratio” is the ratio of fat to carbohydrate and protein grams combined. A 4:1 ratio is more strict than a 3:1 ratio, and is typically used for most children. A 3:1 ratio is typically used for infants, adolescents, and children who require higher amounts of protein or carbohydrate for some other reason.” (http://www.epilepsy.com/epilepsy/treatment_ketogenic_diet)

Aliyah showed no head drops and her ketone level was high.

She was still tired due to the transition.

We were asked to commit to the diet for at least 3 months. We promised to be as strict as we can be.

Ketogenic Diet

Our nutritionist, Karla Mracek wasn't expecting to start Aliyah on the Ketogenic Diet so soon... she had set up an appointment 3 weeks from our day of admittance to the hospital.... She came into our room and asked us to start the Modified Atkinson Diet instead and come back in 3 weeks as schedule.. because she was busy starting the Keto Diet with 3 other patients during our stay....

Of course I was furious............ I know for a fact that when I first spoke with her 3 weeks prior to Aliyah's admittance I told her we were ready to start the Diet since ACTH wasn't looking promising... But she didn't count that as declaring anything because Aliyah was still weaning off of ACTH!!!

I did not want the Modified Atkins Diet.... I did not want me daughter to have 40 seizures a day for the next 3 weeks..... I could not believe she asked me to wait... I could not believe it!!! Yes everyone I did "B####" at her... Believe me I did not mean to!!!! I was just very frustrated!!!! I needed something done for my daughter!!! I asked her what was so hard other than setting up recipes that computer software generated!!!! What is so hard to ask the nurses to collect blood samples? What would be so hard for me to check her ketones in her urine? WHAT IS SOOOOOO HARD ABOUT IT!!!! MY DAUGHTER WAS SEIZING!!!!I ASKED IF THERE WAS ANOTHER NUTRITIONIST THAT CAN START ALIYAH ON THE DIET... she said no, she was the only one qualified/experienced...... At last she did say how she will try to fit us in during our stay there!!!!

Dr. Matthews came in our room and told us we were going to start the diet... also mentioned how Karla cried (I felt awful.. I really did) and how we should give her a break! Well who was going to give my daughter a break???? I will do anything to get things going in order to get Aliyah seizure-free even if I have to step on a couple of toes for my baby.... Aliyah can scream out "Help me"... she can't say "I want these seizures to stop"... I am her voice.....

When Karla came in we thanked her so much!!!! We are fortunate she has a BIG HEART!!!! I just hope she knew I was acting like a mommy / human... Anyone put in my shoes would have done the same .... When you are denied the possibility of your child becoming better and asked to wait a couple of weeks for that possibility..... no parent should have that patience!!!! YOUR CHILD IS IN NEED OF SERIOUS ATTENTION!!!!!

Today I still appreciate Karla and Dr. Joshie!!! :)

The first day:

Karla gave us literature to read: The Ketogenic Diet by John M. Freeman and a pamphlet that explained the diet. She also gave us a weighing balance that measures grams. and a Food ittinirary for the next 3 days.

BLOOD PRESSURE AND road to seizure-free game plan

We arrived to the Children's Hospital at 9:35pm....

The nurses recognized us from last year! We were a wreck Dec.2010 and still are today.... I guess it wouldn't be hard at all to point us out from the crowd.

First thing is first they took her vitals, her blood pressure was in the upper 120s... Luckily it dropped... for now.... They did another enema and this time it helped out so much...... She felt much more comfortable.

The on call neurologist, Dr, Matthews was in and wanted to DRASTICALLY CHANGE ALOT OF THINGS!!!!!

Other than Aliyah's constipation I have been calling her neurologist's nurse and letting her know my daughter's seizure activity have increased DRAMATICALLY ... about 40 head drops a day. Sean and I concluded it was due to the weaning off in Topomax to 0 mg/day. (Dr. Joshie did this because she strongly thinks Topomax wasn't doing anything for her, and keeping her delay in speech/communication, Aliyah has been on Topomax for over 9 months in high dosage and the seizures were still occurring)

Dr. Matthews wanted to increase to topomax 130mg, decrease keppra , and introduce clonazepam. I asked her if it would be okay to put herin 50mg of topomax because that is the dose that Sean and I saw most improvement on, she argued we needed to forcefully attack her seizures with high dosage. Dr. Joshie was not in because she was on vacation... So we had to listen to what all the other neurologist on staff were suggesting.....

Sometimes I think they are not human and are insensitive to the parents and children. Reason being I wanted to know her opinion over Aliyah's case... She started to lecture me as if I didn't know what her diagnosis was. And asked me to be realistic that my child may be disabled. She was so negative over my baby girl .... She was verbally picturing my daughter's future for me..... She was beginning to shred my dreams for Aliyah... Dr. Mathews was ripping my hopes of my baby leading a normal life..... After she was done "verbally hurting us" I let her know Aliyah formal neurologist and current neurologist who was at vacation told us Aliyah still has a very good chance to lead a normal life or as close as we can get it. She argued that she needed to be the one to tell us what might be..... I felt she backed away because I let her now two other neurologist who have actually sat down and read and studied Aliyah's case disagreed with her .

The next day Dr. Matthews let us know of our plans during Aliyah's stay at the hospital.

She was to have several types of x-rays

1. to check for enlargement of her heart.

2. her stomach to see if there is a problem in motility

3. hip decay due to the use of ACTH

several blood tests and checking on her levels of ions, and a kidney ultasound.

Her heart, kidneys, and hip looked normal. They determined there was a problem in motility in her tummy, and her potassium level was low.

Dr. Matthews said once they fixed her constipation problems, by enamas and miralax they will begin to put her on the Ketogenic Diet on Monday, August1st. The nurse were letting us know from the beginning we were going to stay in the hospital for 7-8 days. In order to start the diet, they need to monitor her for 3 days in the hospital.

"The ketogenic diet, consisting of high-fat foods and very few carbohydrates, is believed to trigger biochemical changes that eliminate seizure-causing short circuits in the brain’s signaling system. Used as first-line therapy for infantile spasms and in children whose seizures cannot be controlled with drugs, the diet is highly effective but complicated and sometimes difficult to maintain. It can temporarily raise cholesterol, impair growth and, in rare cases, lead to kidney stones, among other side effects.....The evidence is based on a study of 101 patients ages 2 to 26 years treated with the ketogenic diet for a minimum of 16 months and for up to eight years at Hopkins Children’s between 1993 and 2008. At the time of the follow-up, patients were off the diet anywhere between eight months and 14 years. Nearly 80 percent of the patients remained either seizure-free or had their seizures reduced by half. Most patients’ seizures did not worsen even years after stopping the diet." (http://www.hopkinschildrens.org/high-fat-ketogenic-diet-to-control-seizures-is-safe-over-long-term.aspx)

Ambulance

July 25-July 28 2011

On July 25th my daughter started to face constipation problems, miralax didn't help. I took her in to see her ped July 26th. Her nurse did an enema. It did not help much, they instructed us to give her half a capful of miralax. We came in again in the next day... This time it looked like my little girl was in REAL PAIN. They did another enema... It helped some but not enough to relief her.. they told us to give her a capful of miralax.. nothing... it didn't help much....

Frustrated I took her in to see her ped again.... At the office they wanted me to give it more time to let miralax do it's "thing"... but before the nurse was ready to dismiss us I asked if someone could take Aliyah's blood pressure since the nurse at her daycare was on vacation...

She took it once using a blood pressure monitor....... The reading came back too high.... The nurse said maybe because was fuzzy.... The second reading when she was calm was still too high... around the 160s systolic... The nurse told me to wait..... 40 mins later after waiting she took another reading.... It came back in the 150s....... 30 mins later the nurse took her blood pressure manually it was in the high 140s..... She brought in another nurse to compare reading .. she also took a reading in the high 140s..... By this time I knew something was wrong.... They weren't telling me of none of her reading including her very first one, I am guessing so I wouldn't worry...

The doctor stepped in to let me know she sent out for an ambulance to take her to the Iowa City Children's Hospital, 2.5 hrs away. She already called in her neurologist over there and told me they are expecting her. She explained to me that she was worried Aliyah may have a stroke... With readings that high it can be dangerous. An adult with those readings have really bad headaches, she couldn't believe how Aliyah was handling the pain...

Aliyah was very irritable but we all thought it was because of her constipation. Aliyah did very good when the paramedics came in and strapped her up for the long ride... I sat right next to her in the ambulance. Never did I think I would be in an ambulance for my 2 yr old... I just wanted that night mare to end.

Understanding words

We have decreased topomax from 100mg a day to 50 mg a day.

Weaned her off the prednisolone and continue giving her the medium dose of ACTH.

She now understands the words jump and spin, she also understands the sign for sit down.

Even though she doesn't speak yet at least she is understanding the meaning of words and sign, letting me know her brain is actively functioning.

She also knows what shoes are for..... I see this as progress and am very happy for her.

We are working on her understanding the words diaper, outside and drink/thirsty.

She has been grunting a whole great deal more. But I see this as her trying to communicate with me.

I will remain having faith in the LORD.. Life is good.. Especially with my daughter in it :)

Quick update... ACTH

My daughter is going to begin taking ACTH (daily injections).

I cannot believe this to be true.. This is what we wanted her to be on since we first discovered she had Infantile Spasms on Oct 2010 but sue to insurance we could not.

The price for ACTH is $150,000 for the entire set of vials needed for the duration of the treatment, luckily her insurance is there to help us through the economic barriers.

We are trying to buy a house but I doubt that will happen.... We need to be sure we are financially stable for her... getting a pre approval is too much of a headache right now....

My daughter comes first in every way.......

Yes a backyard would be great for her childhood...

Yes a small pool for her would be great during this HOT summer.

YES WE DO NEED THE SPACE!

But I just want her healthy...... I want to make sure we do everything in our power to help our little girl.

Today we gave Aliyah her first shot of ACTH on her thigh... It was horrible pinning her down so that I can make sure she doesn't kick or hit me with her hands.... It was difficult for me to see her cry... I don;t know if I could follow through and do this on a daily basis... BUT I HAVE TO!!!!!

PRAYING THIS WILL HELP TREAT MY DAUGHTER'S CONDITION!!!!!!!!!!!!

PLEASE JOIN ME .... PRAY FOR My LITTLE GIRL!!!! She deserves a chance to be Aliyah!!!!

OVERWHELMED

I can't take this......

I wish her spasms went away!

Do any of you feel beaten up when you see other kids pass their mild stones while your child is being left behind, to the point that it is becoming more noticeable? I do.....

Aliyah is turning 2 this August... She will start daycare and I do plan on throwing a big Birthday for her, and on inviting all of her new friends.... I am planning on buying a bounce house, hire face painters, hire people to dress up as ELMO and Cinderella for pictures, and so much more!

The reason being this might be the one birthday she can pass as a normal child... By three it may be too noticeable and I am afraid the children may be mean to her, and the parents I JUST DON'T KNOW. I hope they understand.... I may not have a chance to throw her a sweet 16.... I didn't have one but ever since I knew I was having a little girl .. I secretly planned her sweet 16, graduation party from High School and College, wedding, children's baptism... EVERYTHING......

Am I losing it? I need more faith, I need to pray some MORE!! I need more prayers for my daughter!!! My heart is aching so much, I need to be strong for her and my 2 month old. But this pain is taking the best out of me.... Why? Why my little girl? why are there illnesses out there? why to earth's little angels? I would do anything to trade spots with her....

I love my baby girl and will do anything to protect her......

I feel like I am going crazy, I can't talk to my husband about this, he has closed himself up about her infantile spasms.... All I know it is a relief to be expressing myself through this blog... I need someone to listen to me.

HER INFANTILE SPASMS CAME BACK!

I knew there was something wrong I JUST KNEW THERE WAS!!!!
Something kept on telling me her "chin drops" were not normal, they were not Paroxysmal Tonic Upgaze they looked too similar to her developing seizures of IS.... So I did what any parent would do, ask Aliyah's regular physician to refer Aliyah to see a chils neurologist in Iowa City for a second opinion....... They booked us for November 27,2011, at the time it was the first week of April. I accepted it and called every week, sometimes twice a week to see if there was any cancelations. LUCKILY last week they called back asking Aliyah to come in on June 8th. (5 months and some weeks before her scheduled appt.) We already had plans to go to Iowa City because Aliyah had an appt to be evaluated for Autism, the evaluating team suggested she did not have autism. (what a relief)


But on June 8th, Dr. Joshi told us what Sean and I were in denial of.... Aliyah's infantile spasms came back. She told us ALiyah's neurologist did not diagnose her correctly, that Dr. Alsayouf did not read her EEG and saw her spasms occuring.

At first I just heard siezures.....then Dr. Joshi said spasms... I was confused ......so I flat out asked her if Aliyah has infantile spasms again....... SHE DID.......... I could not believe it...... my heart dropped. I felt like my daughter was lied to, valuable time of healing was taking from us.....


My family is having a hard time taking this in.
We started with the steriods again, increased Keppra and will eventually take away Topomax... Dr. Joshi said Topomax hinders cognitive developmental skills and speech/communication learning. Aliyah was on the max dose no wonder she doesn;t know simple command or who her mom of dad are.



Please pray for my little girl..... we need prayers.......... I want my daughter healed....

ALIYAH VERSUS INFANTILE SPASMS

My baby has been losing motor control, dropping her head along with rolling her eyes back just like she did when she intially had IS. Her specialist said it is nothing, but it looks just like she is having her IS seizures...... She does this quite often.

Her development skills are delayed. She is now 21 months and in her evaluation was at a 9 month old rate. Her psychologist told us she is falls into the moderate mental retardation category.

"Moderate mental retardation - About 10% of the mentally retarded population is considered moderately retarded. Moderately retarded individuals have IQ scores ranging from 35-55. They can carry out work and self-care tasks with moderate supervision. They typically acquire communication skills in childhood and are able to live and function successfully within the community in a supervised environment such as a group home."


As a parent I can't take this in. Before she was born I had plans, goals, ideas for her.... I feel IS is destroying her future. I wish there is something I could do. There is no known cause why IS came into her life. All I know is that I feel useless, I just wish I could make everything better for her. I wish all the happiness in life for her. I keep on wondering will she be able to maintain a life once I am gone, who will be there for her? what other hardships will she find? Will she find love? be able to have kids?

I wish it was me fighting these battles for her... If only I had the option of trading places with her. I would give anything for her to lead a normal life!!! My little girl..... I never saw this coming when I found out I was pregnant. I dreamt of taking her to ballet lessons, teaching her how to play the violin, teaching her spanishm teaching her calculus once she reached 9th grade, I wanted to teach her everything I know and much more...............