Monday, February 24, 2014

Trisomy 5q

Rare chromosome disorder.
Long arm : within the 15p15.33 band there is a deletion of 0.133 Mb followed by a duplication of 0.710 Mb followed by a deletion of 0.119 Mb
Short arm: duplication of 5q33.2q35.3

Congenital heart defect, growth failure, failure to thrive, low birth weight, low set of ears, small chin, small jaw, short neck, plagiocephaly, developmental delay in all area.

Chromosomal microarray analysis
Partial karyotype and FISH studies of both parents it is not inherited it is a de novo event.

Vsd repair at 9 months. Amiodarone to control tachycardia and episodes of SVT.
Weekly therapy to help on development ( speech , OT, physical, nutritionist, early interventionist)
Feeding tube to help on gain weight.

Naylah is the only one we know of in her medical circle with this diagnosis.
Other documents are from the 1980s where not much detail is given.

Personal Story:
naylahNaylah was diagnosed with trisomy 5q at about 5 months but her journey as a fighter started at my 20 weeks checkup which she was diagnosed with coarctation of the aorta. Chances were that at birth she would be going through her first heart surgery. From then, We would go weekly to the Obygyn to make sure she was growing strong. At 37 weeks of pregnancy, they decided to induce me since she wasn’t gaining weight.

She was born on May 2nd 2012, Pink and full of life, surgery wasn’t needed. The coarctation was mild but we would go frequently to the cardiologist to make sure she was growing healthy. She also had a mild ASD and a VSD that we were hoping would close on its own as she was growing. Naylah had failure to thrive her first 9 months of life was just like a newborn she would eat every two hours, play shortly and go to bed. That was our daily routine along with many cardiology and pediatrics appointments.

At about 5 months her cardiologist thought her head was too small and her ear sets too low. To us she looked perfect but he suggested to take her to a geneticist to see if she had any abnormalities. A few weeks later results came in. Naylah was diagnosed with trisomy 5q. She has deletion within the 15p15.33 band there is a deletion of 9.133 Mb followed by a duplication of 0.710 Mb followed by a deletion of 0.119 Mb along with duplication of 5q33.2q35.3 . Being a rare genetical disorder that left us at blank. Not knowing where her deletion were, what they cause and what the extra one will make. She is the only one we know of in her medical circle with that.

Soon after that to help her with whatever delay she may have, we started home therapy. She is being seen weekly by speech, occupational, physical therapists and nutritionist. To help us understand better the way she function.

At 9 months Naylah went through her first surgery she had a VSD repair causing too much blood flow and was also diagnosed with tachycardia were she does episodes of SVT( which brings her heart to a rate in the 240s and +). She recovered very fast from surgery but that was the scariest moment of our lives. After 15 days we got to bring our baby back home, and was now on Ameodarone to help control her heart rate.

New hopes came in thinking she would finally start sleeping trough the night and having more energy for others activities. It helped but the heart wasn’t the issue so we question her genetical disorder. We always see things this way if it’s not the heart it’s the trisomy 5q. At 10 months she started sitting. That was a big moment of pride. At 12 months to help her gain weight (14lbs 4oz)and sleep better we went to see a gastronomist who recommended a feeding tube. So we went for it. Anything to help her out, next day out of the hospital Naylah slept for 12 hours straight. We didn’t, we were actually so use to her waking up at all times that our body got use to it. Another big step for our warrior. At 16 months Naylah started crawling. Yes, she is behind in a lot,but every child is gifted they just unwrap their packages at different time. Our daughter is determinate, and she has been doing all the milestones needed at her own time frame. She is doing everything she is suppose to but at her own time. She might not crawl at 6 months like most kid do,take her first steps by her 1st birthday, say mama or dada like she is suppose to, eat a whole meal by mouth without having trouble with it, but the most important thing to remember is that She has an amazing team behind her and we are her biggest fan and source of support.

Every new thing she does shows us she has the willingness to do so. A friend once told me it takes a village to raise a kid. Sure enough she was right, no way we could of made so much progress without family/ friends support and all her medical team. She has a total of about 20 different specialists working with her, with us. Here are some of the characteristics of a child with trisomy 5q. Small head, plagiocephaly ,small jaw/mouth/neck,failure to thrive, developmental/ physical delay, heart disease and physical appearance which on her are unnoticeable unless you know where your ear lobs are suppose to be;) . The only case we know of is from the 1980′s. Where they don’t give us much detail of how the little girl on the article developed, what she accomplished and how her life growing up is like. It’s very brief and very unknown. She might not have had the same loss of chromosome as our daughter. Only time will tell but we know so far. She came to win to fight and we are never giving up.

Contributed by MOM Daniella
For more information click HERE

Monday, February 17, 2014


Our daughter Brieanan was diagnosed with hydrocephalus at just 10 months old, less than 3 days later she suffered a massive global stroke (which actually did more damage than the cancer itself), three days later she underwent an almost 10 hour surgery to remove her tumor and once it was biopsied she was subsequently diagnosed with anaplastic ependymoma a grade 3 brain cancer. She has undergone many surgeries, scans and therapies, spent over 75 days in the hospital over an 8 month period and is just an amazing little girl. She's our miracle tumor trooper!

secondary hydrocephalus, vomiting, focal seizures, loss of milestones, infantile spasms, drastic weight fluctuations, nystagmus

Testing and Diagnosis:
Ultrasound, MRIs, bloodwork, CT scans
Diagnosed with hydrocephalus Aug 24th 2012
Diagnosed with large brain tumor Aug 29th 2012
Suffered massive global stroke Sept 1st 2012
Diagnosed with anaplastic ependymoma Sept 5th 2012
Diagnosed with epilepsy Sept 2012
Diagnosed with paralyzed vocal cords 2012
Diagnosed with Cortical blindness Oct 2012
Diagnosed with subdural hematomas March 2013
Diagnosed with Cortical vision impairment Spring 2013

External emergency shunt for immediate relief of hydrocephalus and the resulting stroke

Complete tumor resection, no chemo/radiation because of age (10 months) and the amount of brain tissue already damaged from stroke we couldnt risk more irreversible damage for a treatment that might not be necessary or might not work

VP shunt placed for long-term treatment of hydrocephalus

Trach placed due to paralyzed vocal cords

G-tube placed secondary to trach

Port-O-Cath placed for future lab work and possible chemo

Subdural shunt placed for long term treatment of the two large subdural hematomas

Complications and infection due to shunt tubing perforating bowel and both shunts externalized during 2 week intensive antibiotic course

Hydrocephalus was found to be self-regulating so VP shunt was removed

Subdural hematomas were cleaned out and subdural shunt also removed
(very rare to have these shunts removed as most shunts are left in even when not needed any longer because of the risk of infection to the brain and CSF during surgeries and recovery)

Currently has MRIs every 3 months to check CSF and to check for recurring tumors

Also undergoes vision, physical, speech and occupational therapy and is on anti-seizure medication


Personal Story:
unnamedOn August 29th, our daughters 10 month birthday, we found out that she had a fairly large brain tumor which was causing hydrocephalus the pressure from which caused a global brain stroke just three days before the tumor was able to be removed.

Luckily the tumor came out completely and after many scans and MRIs she is cancer free, but we still are dealing with the aftermath of the stroke which did more damage than we could ever have imagined. She has a trach to breathe, a g-tube to eat, a shunt to drain excess fluid from her brain to her belly, and she has a port-o-cath for any treatments she might have to go through. Luckily we did not have to go through chemo or radiation, but it is still a hard lot to deal with. She went from being a perfectly normal developing 10 month old to a newborn hooked up to countless machines and undergoing many treatments. But she is strong, and determined and stubborn, THANK GOD. She is progressing, slowly but surely, however it will be a long road to finding out whether or not our little miracle tumor trooper will ever be back with us 100% recovered. Our perfect little girl was taken away from us and we don't know if we will ever get her back like we remember her.

However, we are so thankful that we still have her, being in the PICU at the childrens hospital we saw many little ones lose their battles, and saw many families mourning children that had not even made it to highschool, but that doesn't take the pain away from our thoughts, and doesn't make our memories any less traumatic. No mother should ever have to see her baby, not even a year old, on a table with wires and tubes before she had even been able to say Mama. No parents should have to sit in a meeting room and see an MRI covered in white, showing the drastic brain damage their 10 month old has suffered, and be told that we would be lucky if she even woke up again. Its moments like that, they make you look back and realize how good you had it just a week before and look forward and realize you have no idea what the future holds for your child.

After spending almost 2 months straight in the hospital from Aug 29th to October 18th, we came home and tried to get settled in to our new life, trying to make a new normal. It was definitely hard. My normal now is scheduling countless doctors appointments, making sure B gets her medical supplies on time, making sure her medicines are refilled and keeping up with insurance calls and supply companies and therapy visits (on top of keeping up with housework and infant twins!) We have four amazing nurses that take care of B 24/7 so that we can in fact get back to a "normal" life. I was a stay at home mom and took her everywhere I went, so it was and still is super hard adjusting to the fact that I cant just pack up and take my little girl everywhere I go anymore, without a ambu-bag, supply bag, emergency trach bag and suction machine, and also a nurse.

So now we have a new normal, a medically special needs 2 year old, 6 month old twin boys and home nurses that are like family. I dont know what its like to be alone in my home anymore. I dont know when I might end up in the hospital and away from the twins for weeks at a time. Our life is an anything goes roller coaster at this point. We definitely never expected this but we are so happy to have our miracle tumor trooper still with us, being stubborn, doing things they said she might never do again, and being a princess and a diva at the same time.

Our family motto: Take NOTHING for granted!
Submitted by MOM Erica Jerome

Monday, February 10, 2014

Rubinstein Taybi Syndrome

Rubinstein Taybi syndrome is a rare genetic disorder first described in the 1960s. It effects approximately 1 in 100,000-300,000 people. Spectrum disorder varying from mild to severe. They haven't figured out exactly what causes this, some have chromosomal deletions, some don't. More often than not a deletion in the CREBBP gene in the 16th chromosome.

Rubinstein Taybi syndrome is characterized by developmental delay both physical and mental. Common physical traits are a red wine spot on the forehead, beaked nose, downward slanting eyes, “grimacing” smile, broad and often angulated thumbs and great toes, fetal pads on fingers and toes, excess hair.

Heath problems include heart defects, failure to thrive, tethered spinal cord, reflux, dental issues, increased risk for cancers and tumors,chronic constipation, eye and hearing problems. Most prominent is speech delay. High risk of being non verbal. Autistic like tendencies such as stimming and tics. Sensory disorder common.
Behavioral problems.

Those with rts are often extremely happy outgoing people who love music and swimming. Their love, joy and strength is truly unmatched.

FISH testing can determine diagnosis but often just clinical diagnosis.
Follow ups required are pulmonary cardiology, audiology, genetics, gi, eye.

There are no treatments but management depending on health.

Special Friends Foundation
RTS Confessions

Personal Story:
bast1My pregnancy was typical. No problems. No history of problems in family. They day I gave birth the first thing the nurses told me when she came out was she had abnormal thumbs. My daughter also had a double toe and VSD. I was referred to genetics. I got an appointment the day she turned two weeks. The geneticist examined her and then told me she had rubinstein taybi syndrome. Of course I had never heard of this. I asked what this means. Was it something I did? No. Its not hereditary. It just happens. He said it means she will be moderately to severely mentally retarded. I burst into tears. Holding my tiny angel, so fragile. So innocent. What did she do to deserve this? Of course the answer was nothing. After him and the counselor hugged me, he asked me if I wanted to continue talking or if id rather make a follow up. I asked him to continue. He started telling me all the appointments I needed to make. The therapies I needed to seek. The potential health risks right now. After the appointment was over I called her father and told him to leave work and come home. We spent that day crying in each others arms holding our daughter.

With the wisdom of my aunt it got better quickly. She told me I needed to mourn the loss of the child I thought I would have. I needed to grieve the loss of the dreams I had for her. She told me it was like a death. She told me to give myself two weeks to cry. Then I needed to get up, find my strength and fight. Before those two weeks were up I lost her too. But I still found myself standing and doing as she said.

bast2Now my daughter is just shy of 16 months. We've had vsd, enlarged kidney valve, failure to thrive, feeding tube, projectile vomiting, chronic constipation, reflux, double toe removal, mris, neuroblastoma, adrenalectomy, tethered spinal cord, planning heart surgery and thumb correction. Education therapy, physical, speech, occupational, sensory processing disorder diagnosis, mild sleep apnea, restless nights, fused labia. We have also realized how lucky we are that that list is all we’ve had. We’ve grown. We’ve found strength. We’ve had accomplishments and progress. We discovered love beyond most peoples capability. We found a family in our fellow rts parents. We’ve been happy. Our daughter is unbelieveably beautiful. Shes sweet and gentle. Shes so happy.

We’ve found acceptance. I wouldn’t change her. I wouldn’t want her to be anyone else. Who she is, is already perfect.
Contributed by MOM Stephanie Bast

Monday, February 3, 2014

HIE, CP, Epilepsy, FTT, GERD, dysphagia

Emerson went without O2 during a traumatic birth and HIE resulted.

She had to be resuscitated and intubated at birth, spent 6 weeks in the NICU, had no suck/swallow, hypotonic and hypertonic muscle tone, hearing loss and visual impairment.

She was diagnosed with Cerebral Palsy, Epilepsy, Failure to Thrive, GERD and dysphagia

We do a combination of traditional (OT, PT, vision, developmental) and alternative therapies (CME, VitalStim, Hippotherapy, MNRI, CranioSacral) and also stem cell therap. She has come a long way!

Stem Cell Therapy Center
Therapy Center

Personal Story:

Contributed by MOM Dawn Hamilton
For more information click HERE