I want to introduce you to the most Sweetest Little Angel in the world…Her name is Sara-Beth, and when I say Angel I mean just that. July 11, 2006 God sent me the most beautiful baby in the world. Not realizing it then but we were about to embark on a whole new adventure we were not ready for. She was ready to make her grand entrance into this world, by one hand at a time… She started into this world by her right hand, then shoulder and head… At 5 minutes old she rushed for her 1st MRI. Once they came back and said everything was ok, that she was just bruise and swollen from the delivery, my heart was so happy…. All I could say was Thank you Lord for a healthy beautiful little girl…
Our World was turned upside down:
At 2 weeks old I noticed that she could not use the bathroom we took her for the check up and her doctor sent her to the hospital to get an x-ray done. She has stool and air stuck in her system. We went home with some medicine to try and help her go to the bathroom. We even try the old remedy. But nothing would help her go. Secondly we started noticing that her belly was getting bigger and hard.
From 1-month-old 1 ½ years old she was in and out of the hospital and to the Primary Doctor, that everyone knew us… I was like a routine go in the hospital just hooked up on medication and breathing treatment she would get and projectile vomiting. We would take 2weeks at a time in the hospital. When she was 13 months old she has her 1st surgery they removed her tonsils and adenoids and put tubes in both ears. She was placed on breathe treatments 3x a day due to she was wheezing and had a Constance cough every day and they never could find out why. At 18 months old she was taken by ambulance to Little Rock Children’s Hospital when we got there they look all over her and did x-rays and ultrasounds. They told me she has an ileums and it will go away as she get bigger, just to keep her on Mirlax (like a laxative) every day 17mg once a day with her juice.
She was also sent by Helicopter to ST. Louis Children’s Hospital in 2009, she was throwing up and her stomach was distended and also her sugar lever kept dropping. Once we arrived in ST. Louis they started testing again.
Day by day her belly got bigger and bigger and could not figure out what was going on… We tried Lebourn Hospital and they also ran all kinds of blood work, x-rays, ultra-sounds and came up at the end of 3 months of testing telling us they could not find anything wrong with her. As a mother I thought I was going crazy, I am I imaging that my daughter has something wrong with her… I asked that question to myself over, over and over again. Finally we talk it over with her primary doctor to send us to St. Louis Children’s’ Hospital. We met with the Gastroenterologist and the moment we walked into his office he looked at Sara-Beth and said “She has a hemihyperthropy Disease… Me & her father looked at each other and said what? Her whole right side of her body is longer as well as wider than the left. So we had to get ultrasound every 6mth. In order to make sure that there were no tumors growing in her belly on the kidneys/liver…
The rest of 2008-2010 a she was admitted into the Hospital several different times that I truly loss counts.
March 2010 we were sent to Columbus Ohio to do a week long testing. Finally after all the test we were given we have a Name Dolicolon ( which mean a very long and twisted large intestines) we were told that in the future they could do surgery to un twist it and cut so that she would not be in anymore paid. Once we returned home from the trip all the doctors had no clue what to do. So we were back at square one with only a name to place with the condition. Still today we sit up with her in server pain and movement in her stomach we have to take her in and out of the doctor offices and hospitals.
August 2010, God sent an opportunity for me to transfer with my company to Houston, TX. I prayed about it and researched all the hospitals in the world and everyone said Texas Children’s was the best. So I committed to helping out daughter get the best treatment possible. We decided to move to Houston, TX. After finding the 1st GI we knew the first moment meeting him, that he would be the one to help our baby girl.
Since September 2010 we have gotten more answers then every before. We are finally getting names of the conditions. And the doctors have limited her pain, she still has the pain but we are able to deal with it more knowing what needs to be done. Yes we have added several more syndromes to the list
She had her 2nd Surgery on September 2011—Tethered Spinal cord which was found by her GI Dr. going a MRI of her spine, due to she was having pain in her legging and that would be numb. She also started having kidneys problems and a lot UTI’s. Since the surgery no pain in the legs and kidneys are doing better.
3rd Surgery January 13, 2012- January 19th stayed in hospital-Button placement in lower intestine to help flush out the stool. With this we would be able to help her use the bathroom and she would not be so distended and in pain… But 2 weeks after coming home from the hospital the school called me and said that she was in serious pain and throwing up. We had to rush her back to the ER for stomach distended and pain. They ran MRI, CT and ultrasound to see if there was a blockage somewhere in the intestines. They admitted her in the hospital around 4:30am the 4th of January
On February 6, 2012 her 4th surgery took placed—partial colostomy
We had to rush her back to the ER for stomach distended and pain. They ran MRI,
CT and ultrasound to see if there was a blockage somewhere in the intestines, they admitted her in the hospital around 4:30am the 4th. We found a new and wonderful surgeon and she talked with us about doing an Ilceocostomy. She scheduled the surgery on Monday the 6th. Partial colostomy, they cut at the section small/large intestines the stoma was placed and now she used the bathroom in a bag that is attached to her. She has mucus that flows out of her rectum all day long due to her enlarge colon. They also place the G-tube into her stomach so that we can give her medicine through it. And in June 2011 they replacement the G-Button for a J/G button in order to feed her formula at night
While we stayed in the hospital she was recovered from the surgery that took a bad toll on her body, she has several fevers, and oxygen levels kept doing down. We were visited by her Genetics Dr. and told us that the blood test came back and she test positive for Genetic Gene Mutation call a PTEN. Which she is 80% prone to get breast cancer and other different kinds of cancer that they are still studying to this date, she is 1 of a hand full of patients they have found with some of the PTEN that she has.
We have recently went to an Orthopedic Surgeon and how out the indeed her right side is bigger in diameter and also length. She is currently getting fitted for an insert for her left shoe. We will have to go back every 6mothns for X-rays to see how much has changed. Once again with PTEN/Hemiphyertrophy it also causes one limb to grow at a rapid pace. We have to wait it closely because it can just grow over night.
2013 Surgeon decided it was best to go ahead and remove her colon, they found out the her colon was 5ft (normal one is 2ft) so by going this surgery we hope that it will give her insides more move to move. It did help with the discharge from her rectum and she was able to go a full day at school with panties J no pull-ups which are a big step. We are still struggling with her belly be distended just can’t keep it down, the formula that they put her now is not giving her enough nutrition to help support her body so that we are talking about putting her on TPN.
2014 started a whole new set of testing and doctors.
After they placed the PICC line her body started opening up all new problems. It was never healthy before so it kind of attacked the new and good nutrients it was getting, she started to have severe pain in both legs and knees and swelling her then was placing in a wheelchair due to not being able to stand nor walk even 5 feet. She was in the bed all the time. After doing blood work, bioscopy’s they have said she has severe arthritis in both legs joints. Then in August first day of school, they had to call the ambulance to come get her from school. We arrived at the ER, and found that her Red Blood cells were depleting. She is now anemic. Since August 2014 until present day, she has had to have 3 blood transfusion and 3 iron infusions. She is bleeding somewhere within the GI tract but the doctors as unable to locate where.
January 2015 call received. Traveling February 1-6, 2015
We have now received the 2nd call from Pittsburgh Children’s Hospital to bring her there again for a 1 week stay to do more testing, blood work, and evaluation in order to get placed on the transplant waiting list. We are praying this will be a good visit and they say yes so that my little girl can finally be the little girl she should be. We have come to the hall of hopes. And in our case we are now have to fry back to Pittlsburgh Children’s hospital. This time for evaluated for the Transplant. It is day 3 of blood work, ultrasounds. And XRAYW, AND We are no closer to understand what is happing with my daughter. No they are saying with that PTEN gene she is already 75-85% prone to have certain types of cancers. If we were to think about doing is to respecting the intestines. l that we would probably up that %. All they have talked about re section might work, but will not know until all the other doctors are able to talk. So this week was another upset. But we did find out that it is not safe to go through with the transplant. We will go back home Houston,TX and see what the next step will be.
On the right side as well. MRI, Ultrasounds, Barium X-ray, Rectal Biopsy, Upper & Lower GI Motility Renal Monometery.
- Twin River Medical Center on an off from birth to September 2010.
- Test, sickness with stomach
- Little Rock Children’s Hospital:
- Sent by ambulance due to stomach was bloating and sugar level dropped. 2007
- Little Rock children’s Hospital:
- February 2008
- She was rushed by ambulance they thought there was a in her large intestines.
- St. Louis children’s Hospital:
- Life flighted in 2008, seen at this facility From 2008-2010
- Nationwide Children’s Hospital Columbus, Ohio
- Found out she has a Dolico colon (extremely large and twisted colon. Bacteria Overgrowth
- Test- Motility Renal Monometery
- Rectal Biopsy
- Texas Children’s Hospital: 2010
- Run test: MRI- found out she had a Tethered Spinal Cord and nerve damage to her kidney & bladder, had surgery on August 8 to remove some of the bone and cord to relieve pressure off the kidney & bladder.
Doctors she is currently seeing:
- Pediatric Surgery
- Pediatric Neurosurgeon
- Occupational Therapist
- Allergy & Immunology
- Cardiology Non-Invasive
- Docusate 3x a day
- Amoxicillin/Clavulanate (Augmentin) 3x a day
- Miralax 2x day
- Infant gas drops: 3ML l 3xday
- *Nutritional Supplements (complete pediatric) 1000ml night 91ml/per hour( she is not taking this right now NOT DOING..
- Cisapride (study not FDA approved) we are not sure if she will be able to take this or not. Starting date 8/21/12… stopped taking due to bad reaction. Set back
- Sirolimus PO Soln. 2014
- Sulfamethoxazole/trimethoprim 2014
- Gabapentin 3.4.ml 3x day for pain
- Epinephrine injection as needed
- Acyclovir 15ml 4x day
Problem list: Everything she has been diagnosed with since birth:
- Constipation—2weeks old
- Tethered Spinal Cord 11-29-2011
- Macrocephaly 2008
- Hemihypertrophy 2008
- Gastrointestinal Dysmotility 2008
- Pseudo-obstruction of Intestine 6-6-2012
- PTEN Gene Mutation 7-19-2012( Exome sequencing test final tests 6/27/14) PTEN, GANGLIONEUROMATOSIS, MACROCEPHALY, HEMIHYPERTROPHY,
- KLIPPEL TRENAUNAY WEBER, REACTIVE ARTHRITIS (most sever case ever know. Very rare.
- Plexiform Neurofibroma 7-19-2012
- Ganglioneuromatorsis 7-19-2012
- In both legs, rb/iron very low, started 1st iron infusion august 22, 2014, did not work rushed back to ER August 25 ‘RB dropped ordered blood transfusion.
- Neurogenic bladder
- Seborrheic dermatitis
- Anemia due to chronic blood loss(GI Bleeding) Red blood count keeps dropping she has had 2 blood transfusions in the last month in a half.(8/25/14 started)
- Abdominal distention
- Herpes Simplex Recurrent HSV (herpes simplex virus)
- Altered level of consciousness black outs not sure why
- AVM (arteriovenous Malformation)
- (14mths old) September 2007– Tubes placed in ears, tonsils removed and also her adenoids
- (5yrs old)September 2011—Tethered Spinal cord
- (5 yrs old)January 13, 2012- January 19th stayed in hospital
- G-Button placement in lower intestine to help flush out the stool, this didn’t work
- (5 yrs old) February 6, 2012—Partial colostomy
- (6 yrs old) February 2013 full Lap, surg, colectomy, total, w/o Proctectomy Colon surgery
- (7 yrs old) PICC line, total TPN dependent. Biopsy done on right knee also on in the intestines.
- (8 yrs old) iron infusion, blood transfusion- changed the PICC line to a Central line.
- Biopsy Synovium Knee Joint | 6/26/2014
- Ileoscopy Thru Stoma,biopsy | 6/25/2014
- Upper GI Endoscopy, biopsy | 6/25/2014
- Sigmoidoscopy,biopsy | 6/25/2014
- Insert Tunneled Cv Cath | 6/25/2014
- Ileoscopy Thru Stoma,biopsy | 9/17/2014
- Upper GI Endoscopy, biopsy | 9/17/2014