A lot has happened since 2012. My beautiful baby girl is now 11 years old!!!! She had some speech delays & even lost some words between the age of 2 -3 years old. All along her pediatrician & I knew that she was slightly behind her peers, but we weren't overly concerned. We just felt like she was developing at her own pace, so took a laid back approach to things. By the time I brought her for her 3 year check up I was concerned. We received a referral for speech therapy for evaluation, but it was incredibly difficult to get an appointment. The therapist suggested to me by the pediatrician, was private pay only (didn't accept insurance). I reached out to 2 different hospiytals & got on their waiting lists. I got Patty Cakes on a waiting list for Speech Therapy at Children's Hospital, but after 6 months of waiting for that I gave up & started contacting other hospitals & asking questions. I was able to get an appointment for a speech evaluation at Ochsner hospital fairly quickly! Within a month of talking to the receptionist we had an appointment - no waiting list! She was initially diagnosed with severe expressive & receptive language delays. She saw a Speech Language Pathologist for an hour once per week. Her SLP said that she was seeing some unusual things, & felt perhaps she might be Autistic. At the time I firmly believed that she did NOT have Autism. She was friendly, interactive, affectionate, & made some eye contact. Her pediatrician also did not think that she was on the spectrum. The SLP referred us to a neurologist. The neurologist didn't feel that she was on the spectrum, but thought it would be a good idea for her to get checked out by genetics just in case there was an explanation for her speech & developmental delays. We saw a geneticist, who said that she was a beautiful & perfect little girl, with absolutely no markers for a genetic abnormality, & he did not want to test her at that time, but he did want to follow her. She saw him a second time a few months later, & he still didn't want to do any genetic testing. He asked us to come back again in a few months. More on this later....
This is what my baby girl looked like at 3 years old. Olan Mills took these pictures.
I reached out to the Psychology Dept at Children's Hospital for testing. They had a long waiting list, but said they'd add her to the list & I'd hear back from them in 6 - 9 months. 6 months later I still hadn't heard anything, so I gave them a call, & the woman I spoke to said that I should have patience, the list was quite long, & they would get back to me. At 9 months I called again & spoke to somebody different, who repeated the same thing. I asked how much longer I would have to wait. She did not know. I asked if she could please verify that my daughter was actually on the list, & tell me how far down the list she was. She tried, but said the list was massive, & she could not locate her. She suggested putting her name BACK on the list again, which meant another 6 - 9 month wait....
I wanted to get Patricia tested through the Psychology Dept at Ochsner, but was told that the psychology dept didn't accept my insurance. I had Patricia evaluated through Child Search shortly after she started private ST (Speech Therapy), & they placed her in ST at a local public school, twice per week, for an hour & a half each session. She was doing private ST on top of the school based therapy, which amounted to a total of 3 speech therapy sessions per week. They wouldn't allow her into pre-k because she still wasn't potty trained. More on that later.....
We were seeing a certain SLP privately who eventually got married & moved away. My daughter saw her for maybe 3 months total, & honestly I was glad that we were going to change SLP's because there was a personality conflict there. It just wasn't a good mesh with my daughter. Patty Cakes was a happy little girl, but she would scream at the top of her lungs, as the SLP took her down the hall to therapy. I could hear her screaming through closed doors, all the way at the end of the hallway, for the entire duration of the therapy. It sent up red flags for me. I was told that it was separation anxiety due to her age, but she never behaved this way with anyone else or had difficulty separating from me with anyone else. We were reassigned to the Director of the Speech Dept! I love, love, loved this woman! I can't say enough good things about her. After seeing Patricia for 6 months or so, the diagnosis changed slightly. She said that she thought she had a certain amount of childhood apraxia of speech as well, so the coding changed on the bills. She stayed with her until she retired - close to 5 years. Then she was re-assigned to another SLP who had a public school background. All in all, she had close to 8 years of speech therapy! She definitely does have Childhood Apraxia of Speech! She made improvements over the years, but still has speech intelligibility issues. Patty Cakes was released from ST last Summer. I wasn't in favor of this because I still can't understand her at times, & I'm closer to her than anyone! However, it was argued that she was tired of ST, not as cooperative anymore, & she needed a break. It was suggested that we take a break, make an appointment in a year for re-evaluation, & perhaps start again. There was no guarantee that she'd get the same SLP again. We're in a holding pattern now & even though I work with her myself (always have), I'm seeing some regression at 11 years old. More on this later....
At one point on this journey, our insurance company decided that they were no longer going to cover my daughter's ST appointments, but didn't bother to inform us of that! I didn't find out until I had the rude awakening through a hospital bill! I tried to fight the insurance company on it, but was told that the panel of specialists they consulted said that based on my daughter's diagnosis they did not feel that ST would benefit her, & that she would not improve. WHAT?!? If I had known any of this, things could have been handled so much differently. The SLP obviously felt that she would improve! What is the point of going to ST if you don't expect improvement? It's incredibly difficult to fight insurance companies! Believe me, I tried. We ended up switching the kids over to Medicaid (no shame at all in admitting that!). It was a HUGE blessing & if you qualify, & if it improves your children's health care, why have shame about it? Medicaid covered what my private insurance would not!!!
My husband was laid off & we had COBRA for a few months. About a week before we lost insurance through COBRA, we saw the geneticist again. I asked him about the testing & he still did not want to do it. I explained the situation with my husband's job, & that we'd only have insurance another week, our deductibles were met, & that I really wanted to know one way or another. He suggested we apply for Medicaid, but said that Medicaid typically would not cover the extensive testing that he wanted to do. I begged him to please do it, while we still had insurance that would cover it. Thankfully, he agreed! However, he said that he doubted there would be anything of concern because she showed no markers. We went straight to the lab to get her blood drawn.
Just before Christmas 2014, when Patty Cakes was almost 4, we received her results. We went in to meet with her geneticist, & I knew something was wrong as soon as he walked in the door. He said "As you know, I did not believe that she had any genetic variances at all. She is perfect & beautiful, & it's important that you remember that. However, I was stunned when I received her results. She has not one, but two genetic abnormalities." It was a shock! Patty Cakes has XXX Syndrome & 15q11.2 microdeletion. He said that he was less concerned about Triple X because some women go their entire lives without ever knowing they have it, until they are tested for some random reason. It is possible to live a normal life & be unaffected by it. However, it is equally possible to have some known issues. Triple X girls are known for being tall & thin, with long legs, & unusually attractive. They can have clinodactyly (curvature of the pinky), epicanthal folds (folds of skin around the eyes), Speech delays, developmental delays, heart & kidney malformations, learning delays, Autism, & more. The 15q11.2 is her wild card. He had no idea how it would affect her, since it is additive with the Triple X, & she is the only known person in the entire world to have both together. He told me the odds of having both together, but I can't remember anymore. It was unusually rare. 15q11.2 is a relatively new genetic abnormality, & they still don't know a lot about it. In fact, we participated in the Burnside Butler research study to try to better help the understanding of it. It was only discovered around 10 years ago, but they do know that it affects the central nervous system. It also causes speech delays, developmental delays, & learning delays, so she has a double whammy against her for speech delays. We finally had an explanation for her speech difficulties! However, 15q11.2 icrodeletion is also associated with Epilepsy, ADHD, ODD, Autism, Schizophrenia, & more. It is not to say that everybody with 15q11.2 has these issues, but you are more likely to develop them, so they are monitored more closely.
This is my baby girl at 4. Shout out to the ultra talented to Robert Galiano of Gulfport MS for the pictures.
At 4 years old, Patricia was still seeing both Private SLP, as well as going to the school based ST. She was followed by neurology, genetics, had a hearing exam, her eyes examined, & was now exhibiting jerky movements of her arms that came with grunting & kicking, as well as spacing out. She would zone out for up to 15 seconds, & during that time she was unresponsive to clapping, waving your hand in front of her face, saying her name over & over again, or touching her. When she would snap out of it she was unaware of anything that happened. Sometimes she would complain of a headache or being tired, & often wanted to sleep. The school based SLP's observed this & were concerned, so the neurologist ordered a sleep deprived EEG. Nothing was found. The jerky movements happened more & more frequently, & she would become annoyed if you tried to stop her from engaging in the movements. The SLP at school tried weighted blankets, but they didn't really help. The neurologist ordered a brain MRI, and that was normal as well. Her speech was improving, but at 4 years old she was still very delayed. Here is a video of Patricia talking at 4. You may have to copy & paste the link into your browser. I don't think it's clickable - sorry.
https://youtu.be/KEry5kXPjTo
Patricia did not attend pre-k, as mentioned earlier. She was originally accepted for ST through Child Search, but after her genetic abnormalities were found, I submitted that to Child Search as well. The neurologist wrote a letter to them explaining that it affected every cell in her body, including her brain. She explained that it was a neurological condition. Patricia was eventually sen by an OT & found to need therapy. The OT referred to PT, who also said she required therapy. I submitted this to Child Search as well. When Child Search evaluated her, they did have an OT & PT evaluate her, but they didn't feel that she needed services through the school system. When I brought in the private evaluations, that all changed! The evaluation was updated to suggest APE (adapted PE) to address her PT needs & to include OT sessions when she began school. In other words, if I hadn't be proactive & fought for these services, they never would've been offered by the school system! They were nice enough to rush the evaluation's completion in time for me to have an IEP at the school board, prior to her beginning school. I met with the head of the Special Ed Department for my Parish & she said that because of where Patricia's birthdate fell, it was up to me if I wanted to put her in pre-k or kindergarten. I thought pre-k would be best due to her delays & level of maturity. She agreed. She wrote the IEP up and the IEP stated that she was to be in pre-k. I bought school uniforms for pre-k. On the 1st day of school, her special ed teacher informed me that she could not be in pre-k & must attend kindergarten. This was the beginning of a long history of fighting with my daughter's school. I learned the hard way that special ed parents have to fight hard for their children to receive appropriate services & to get the schools to do the right things for their children! I called the woman who wrote up my daughter's IEP & she asked "Is your daughter still 5 years old?" I said yes. She asked when her birthday was, & I told her. She said "Then she can absolutely be in pre-k, & the IEP is a legal & binding document! I was brand new to all of this, & because I was unsure of how to handle this, I allowed the school to convince me to hold a new IEP meting. The Principal said "This is why we don't like for the school board to hold IEP meetings. They often promise things that we can't fulfill. IEP meetings really ned to be held at the school the child will be attending." If I could go back in time, I would've perhaps consulted "Wrightslaw: Special Education Law", talked to Families Helping Families, or consulted a lawyer. All I can say in my defense is that I was green & slightly intimidated by all of this. Frankly, I think public schools rely on special parents feeling this way! It makes it easier for them to manipulate the situation to their advantage. At any rate, they pulled the wool over my eyes, & forced my daughter into kindergarten. They claimed that children don't learn anything in pre-k - that it's just playing & social skills. I asked if they didn't learn the alphabets & counting. The Principal admitted they did, but said my daughter could get this in kindergarten too. I have deep regrets about allowing them to bully me into placing her in a grade that she wasn't ready for!
This is Patty Cakes on her 1st day of school.
To be continued......
