1. I have a cold
2. A lot is on my mind...
I've been up since 3:30am and now that it is 5:00 I think blogging will help.
Some of you may already now that Keira is attending a special preschool and has been going for a couple weeks now. She loves it and is doing great. She goes Monday - Thursday from 8:30-11:00. She gets speech therapy and occupational therapy and has the most wonderful teachers. We are so grateful that she was accepted to such a wonderful preschool.
Ever since Keira was born she has hit milestones late. She rolled over, crawled, and walked late. She has been very behind in speech and was recently evaluated. She is on the level of a 20-25 month old. Keira is 3.5 years old. Within the last year I have made comments that having the 3 girls is like triplets and has been a challenge since Keira is on the same level as the babies... who are now 20 months old. *I still call them the babies... and probably always will. :)
There have been a lot of challenges a long the way with Keira. Some of them you may not even know. I'll list a few...
Struggled with eating as soon as she came into this world.
Poor feeding - Small appetite and often didn't even care for eating.
Very colicky baby.
Wouldn't self feed till she was around 16-18 months old.
Failure to thrive.
Never made it on the growth chart. Always small and underweight.
Constipation. Started at 6 months old and continued to get worse.
Has been on Miralax since around that time to prevent constipation.
Sensitive to light.
Delayed in speech.
Delayed in Potty Training.
Being delayed in speech is the biggest challenge. Not being able to communicate has been the hardest battle. It is overwhelming for Keira and can be overwhelming for Mom and Dad (US) too! It is sad when Keira is trying to communicate and gets frustrated when we don't understand. We are working on it and Keira is trying really hard to say new words. She says about 50-60 of them but only uses single words.
We have had many doctor appointments over the last couple of years as we have always known that something just wasn't right.
FINALLY ......... A DIAGNOSIS!!!
Brody received a call the other day from the hospital with results.
Keira has POTOCKI-LUPSKI SYNDROME also known as PTLS.
I want to share some information and bring some awareness to it. We still have more doctor appointments and haven't been seen since the diagnosis. This information was found on a reliable support group site. There are only about 50 some known cases in the world. Very rare but also some have probably been undiagnosed.
Here is some information so we can all understand Keira a little better. :)
Potocki-Lupski Syndrome
(PTLS)
Characteristics and What to Expect
CHARACTERISTICS
note: Not all children present with the same symptoms. The severity varies according to the size of the duplication, if there is another chromosomal issue (such as CMT- Charcot-Marie-Tooth) and the children make wonderful developmental changes with maturity in age, and surroundings.
HEALTH CONCERNS:
Poor feeding
(with infants and toddlers. this changes in early childhood)
Failure to thrive
(in infants)
Reduced body weight
(the kids remain slender and low on the height/weight scale until the teen years)
Low muscle tone
(yet they have strength)
Poor fine motor skills
Quiet during and after birth
(little to no crying. described by parents as if they were sleeping or observing during delivery)
Hypersensitivity to light (photophobia)
"Lazy eyes" (exotropia of one or both eyes)
(which may need to be corrected with surgery)
Hypersensitive to sound
(which hearing needs to be monitored yearly, since it tends to diminish slightly as they reach late teens)
Connective tissue disorder
(weakening in the muscles, tendons, and other connective tissue as they age)
Aortic root dilatation (the large artery coming off the heart)
(the kids that have this- some are just monitored, others are on beta blocker medicine. monitoring done every 1-2 years)
Sleep Apnea
Dental issues
(malocclusions, early eruption and loss of teeth, poor formation or no formation of enamel)
High arched palate (roof of mouth)
Oropharyngeal Dysphagia (causing swallow difficulties)
Gastroparesis (slow emptying of stomach)
Poor coordinated movement of the tongue
(which can hinder formation of some words)
Submucous cleft palate (roof of mouth)
Kidney issues
Extra long intestinal tract
(which can cause constipation issues)
Acid reflux (GERD)
Head aches/migraines
Early puberty
Scoliosis
Sensory issues (self stimulating and self soothing)
decreased sensation to pain, but increased sensation to light touch
(when they are injured, the kids can be calmed by almost anyone. They may need a reminder (to "cue")
Wide bridge of the nose (between the eyes)
(wider with those who have the added CMT)
Slender, anterior curve to the nose, which broadens as they age
Slight curve to the little finger
Poor feeding
(with infants and toddlers. this changes in early childhood)
Failure to thrive
(in infants)
Reduced body weight
(the kids remain slender and low on the height/weight scale until the teen years)
Low muscle tone
(yet they have strength)
Poor fine motor skills
Quiet during and after birth
(little to no crying. described by parents as if they were sleeping or observing during delivery)
Hypersensitivity to light (photophobia)
"Lazy eyes" (exotropia of one or both eyes)
(which may need to be corrected with surgery)
Hypersensitive to sound
(which hearing needs to be monitored yearly, since it tends to diminish slightly as they reach late teens)
Connective tissue disorder
(weakening in the muscles, tendons, and other connective tissue as they age)
Aortic root dilatation (the large artery coming off the heart)
(the kids that have this- some are just monitored, others are on beta blocker medicine. monitoring done every 1-2 years)
Sleep Apnea
Dental issues
(malocclusions, early eruption and loss of teeth, poor formation or no formation of enamel)
High arched palate (roof of mouth)
Oropharyngeal Dysphagia (causing swallow difficulties)
Gastroparesis (slow emptying of stomach)
Poor coordinated movement of the tongue
(which can hinder formation of some words)
Submucous cleft palate (roof of mouth)
Kidney issues
Extra long intestinal tract
(which can cause constipation issues)
Acid reflux (GERD)
Head aches/migraines
Early puberty
Scoliosis
Sensory issues (self stimulating and self soothing)
decreased sensation to pain, but increased sensation to light touch
(when they are injured, the kids can be calmed by almost anyone. They may need a reminder (to "cue")
Wide bridge of the nose (between the eyes)
(wider with those who have the added CMT)
Slender, anterior curve to the nose, which broadens as they age
Slight curve to the little finger
NEUROBEHAVIORAL
Learning differences ( they can be very literal)
Very social with familiar and non-familiar people
Happy, friendly children. Smiles all the time!
Speech delays
Developmental delays
(when they have a growth spurt, it is big, then followed by a plateau)
OCD behaviors
(they love to line up their toys, baby dolls, stuffed animals, shoes, etc)
Autism-like behaviors
Elevated levels of anxiety
ADD/ADHD
(which tends to calm down greatly in late teen years)
Happy, friendly children. Smiles all the time!
Speech delays
Developmental delays
(when they have a growth spurt, it is big, then followed by a plateau)
OCD behaviors
(they love to line up their toys, baby dolls, stuffed animals, shoes, etc)
Autism-like behaviors
Elevated levels of anxiety
ADD/ADHD
(which tends to calm down greatly in late teen years)
Memory issues
(long term memory is unbelievable. there is a deficit with short term memory)
I.Q. has a wide range
Extreme passiveness
Delays in toilet training
(often resolved around age 5)
Learn by imitating
(they learn best by watching and interacting with "typical" kids, especially with speech)
They are excellent with electronics (cell phones, computers, iPads, itouches)
(long term memory is unbelievable. there is a deficit with short term memory)
I.Q. has a wide range
Extreme passiveness
Delays in toilet training
(often resolved around age 5)
Learn by imitating
(they learn best by watching and interacting with "typical" kids, especially with speech)
They are excellent with electronics (cell phones, computers, iPads, itouches)
NOTE: Many of these children are extremely routine oriented and organized. They function better when they have daily activity predictability and are allowed to direct their focus ("Stim") on something they enjoy (like lining up toy cars or shoes,) so they are not overstimulated, similar to obsessive-compulsive behavior. This diminishes and is easier to alter as they reach adolescence and adulthood.
These beautiful children may have speech delays, but they are excellent observers. They may not pay attention to what is said, but they understand what you are asking of them. They may not play with other children, but they will play next to them and watch the interaction. Love them and let them shine in their own way!
These beautiful children may have speech delays, but they are excellent observers. They may not pay attention to what is said, but they understand what you are asking of them. They may not play with other children, but they will play next to them and watch the interaction. Love them and let them shine in their own way!
Frequently Asked Questions (FAQs)
What causes PTLS?
The duplication on chromosome 17p11.2 is caused by an error that happens during the formation of the egg or sperm. There is nothing that a parent might have done to cause this condition, nor is there anything that a parent could have done
What does a gene look like?
Each chromosome has grey and white bands. The duplication occurs in the upper arm on chromosome number 17. It is located in the "p" (which is the upper part) in the 11.2 area. This duplication can range from very small to very large, and reach into the area bands, like with CMT (Charcot Marie Tooth).
What should I expect in the future for my child with PTLS? Every individual with PTLS is unique and it is impossible to know exactly what to expect. However, most individuals will have some level of independence, but still have some degree of developmental delay. In addition, many individuals display some behaviors similar to those seen in patients with autism spectrum disorders.
Does this mean that my child with PTLS will have autism?No, but they might show some features such as difficulty with interpersonal skills, repetitive behaviors (like OCD), or other unusual behaviors, and anxiety issues.
Is there a cure for PTLS? This is not a disease. Because the duplication of genetic material exists in every cell of the body, there is no way to “cure” the syndrome at present. However, physical / occupational / speech therapy can help children overcome some of the developmental delays. If significant cardiac defects or sleep apnea are detected, these can often be treated medically or surgically.
Are the offspring of the child with PTLS at risk? This question can only be answered by your geneticist or genetic counselor. There is a 50% chance of your PTLS child passing it on to their child.
Where can I get more information about PTLS? Since this syndrome has only recently been described, physicians are still in the process of learning about it. Joining the family support group is also a great way to share information and ideas. If you would like to share information with your primary physician, Baylor College of Medicine, Houston, will provide you with a reprint of their recently published article upon request.
Any helpful tips to help me? These children are happy children. Many of them seem to progress extremely well when they are around other "typical" children they can imitate. Though they may not interact, they do observe and this helps greatly with speech development. Be patient and know your child has great possibilities. It seems that 4-5 years of age it when many of them take a huge leap in their development. The developmental milestones will come in large waves. Please do not measure your child's progress with others. Your child will mature and with maturity comes many wonderful changes.
It is amazing to us how many things make sense to us now. If you read thru this information and if you know Keira... you will find a few things funny and cute. Keira is definitely a happy sweet girl who always smiles. She is loving and kind to everyone she meets. Keira also loves to line things up from all sorts of toys and objects. I find this very cute. I'm glad I have a happy sweet-smiley girl. :)
We have doctor appointments to come and will keep our family and friends posted. We plan on getting Keira started in more speech therapy and really want to get her the help she (and WE) all need to get things moving forward. Please keep Keira in your thoughts and prayers as we are all learning more about her and PTLS.
Much thanks and love to all who have been concerned for Keira and always checking in on her. :)
Here are a few pictures of Keira on her first day of preschool.
October 4, 2012
Keira's "ALL ABOUT ME" Poster
